1 | M | c.1627C>T (p.Gln543Ter); c.3825C>G (p.Tyr1275Ter) | − | + | − | − | − | | | |
2 | M | c.3825C>G (p.Tyr1275Ter); c.2755T>A (p.Ser919Thr), c.4239_4240dupTC (p.His1414LeufsTer18) | | + | | | | | | |
3 | M | c.2303G>A (p.Arg768Gln); c.3476T>G (p.Ile1159Ser) | | + | | | | | | jaundice free after infant, recurrent jaundice at 8.5 years |
4 | F | c.3825C>G (p.Tyr1275Ter); c.1399G>A (p.Val461Ile) | | + | − | − | − | | | |
5 | M | c.298C>T (p.Arg100Ter); c.3928C>T (p.Arg1310Ter) | | + | − | − | − | | | persistent jaundice at 10 years |
6 | M | c.3825C>G (p.Tyr1275Ter); c.1322_1325dupTGTG (p.Trp442CysfsTer37) | | + | − | − | − | | | transient prolonged prothrombin time (international normalized ratio [INR]) |
7# | M | c.1177C>T (p.Arg393Trp); c.1177C>T (p.Arg393Trp) | | + | 2 cm | 1 cm | − | | + | jaundice free at 7.5 months |
8# | F | c.1177C>T (p.Arg393Trp); c.4024T>C (p.Ser1342Pro) | − | + | − | − | − | | | subclinical jaundice at 4.3 months |
9# | F | c.1177C>T (p.Arg393Trp); c.4024T>C (p.Ser1342Pro) | + | + | 2 cm | − | − | + | | persistent jaundice at 6.2 months, subclinical jaundice at 7.3 months and 9.4 months |
10 | F | c.1815+3_1815+6dup; c.1813delinsCAGGT (p.Ala606ValfsTer17) | | + | − | − | − | | | |
11 | F | c.1281T>G (p.Asp427Glu); c.4025C>A (p.Ser1342Tyr) | | + | − | − | − | | | |
12# | M | c.1177C>T (p.Arg393Trp); c.2980delA (p.Ile994LeufsTer29) | | + | | | | | | persistent jaundice at 8.9 months |
13 | M | c.3825C>G (p.Tyr1275Ter); c.1177C>T (p.Arg393Trp) | | + | | | | + | | mother had itching during pregnancy, jaundice free at 11.0 months |
14# | M | c.632+2_632+5delTAGG; c.4239_4240dupTC (p.His1414LeufsTer18) | | + | | | | | | |
15# | M | c.2302C>T (p.Arg768Trp); c.4024T>C (p.Ser1342Pro) | + | + | 4 cm | 2 cm | − | + | | premature delivery, subclinical jaundice at 7.4 months |
16# | M | c.3825C>G (p.Tyr1275Ter); c.4146+1G>T | − | + | 2 cm | 2 cm | − | | | persistent jaundice at 2.2 years |
17# | F | c.1177C>T (p.Arg393Trp); c.4145A>G (p.Gln1382Arg) | | + | | | | | | jaundice free at 8.0 months, subclinical jaundice at 1.0 year |
18# | F | c.2821delG (p.Glu941LysfsTer5); c.4313+1G>T | − | + | 3 cm | − | − | | | low muscle tension |
19 | F | c.1018C>A (p.Pro340Thr); c.1968-1G>A | | + | 2.5 cm | 2.5 cm | − | | | |
20# | M | c.1177C>T (p.Arg393Trp); c.2063T>C (p.Met688Thr) | + | + | 2.3 cm | − | 2.3 cm | + | + | jaundice free at 5 months |
21# | M | c.4250delC (p.Ser1417PhefsTer14); c.4256T>G (p.Val1419Gly) | | + | | | | | | jaundice free at 4.1 months |
22 | M | c.1177C>T (p.Arg393Trp); c.3660delC (p.Ser1222GlnfsTer3) | | + | 1 cm | − | − | | | jaundice free at 4.7 months |
23# | F | c.4384G>A (p.Glu1462Lys); c.4384G>A (p.Glu1462Lys) | + | + | | | | | | |
24# | M | c.2755T>A (p.Ser919Thr); c.2883+1G>A, c.4239_4240dupTC (p.His1414LeufsTer18) | − | + | | | | | | subclinical jaundice at 3.3 years |
25# | F | c.1177C>T (p.Arg393Trp); c.1177C>T (p.Arg393Trp) | + | + | 3 cm; | 2.5 cm | − | + | + | |
26# | F | c.3259-1G>A; c.3191T>A (p.Ile1064Asn) | | + | | | | | | |
27# | M | c.3825C>G (p.Tyr1275Ter); c.1177C>T (p.Arg393Trp) | | + | 2 cm | 3 cm | − | + | + | persistent jaundice at 4.9 months |
28# | M | c.338T>C (p.Leu113Pro); c.338T>C (p.Leu113Pro) | + | + | 1 cm | − | − | + | + | premature, hypoglycemia, convulsion, atrial septal defect, retarded brain development |
29 | M | c.2443C>T (p.Arg815Ter); c.2078G>A (p.Gly693Glu) | | + | − | − | − | | | persistent jaundice at 7.0 months |
30# | M | c.1177C>T (p.Arg393Trp); c.1177C>T (p.Arg393Trp) | − | + | | | | | | premature delivery; hypoglycemia; atrial septal defect |
31# | M | c.2302C>T (p.Arg768Trp); c.3988-3C>G, c.1457C>T (p.Thr686Ile) | | + | − | − | − | | | jaundice free at 9.6 months, subclinical jaundice at 2.5y |
32# | M | c.2755T>A (p.Ser919Thr); c.4239_4240dupTC (p.His1414LeufsTer18) | + | + | 2.5 cm | 1.5 cm | − | | | jaundice free at 1.4 years |
33# | F | c.3825C>G (p.Tyr1275Ter); c.2201T>C (p.Leu734Pro) | + | + | | | | | | |
34# | M | c.2366C>T (p.Ser789Phe); c.2362_2363delCT (Leu788ValfsTer13) | − | + | | | | | | transient prolonged prothrombin time (INR) |
35 | M | c.4239_4240dupTC (p.His1414LeufsTer18), c.1462C>T (p.Gln488Ter), c.2755T>A (p.Ser919Thr) | + | + | 4 cm | 3.5 cm | − | | | |
36 | F | c.4384delG (p.Glu1462ArgfsTer8); c.298C>T (p.Arg100Ter) | | + | − | − | − | + | | N/A |
37 | M | c.2026G>C (p.Gly676Arg); c.1939G>T (p.Glu647Ter) | + | + | − | − | − | | + | jaundice free after infancy, recurrent subclinical jaundice at 3.2 years after fever |
38# | F | c.3825C>G (p.Tyr1275Ter), c.2755T>A (p.Ser919Thr), c.4239_4240dupTC (p.His1414LeufsTer18) | | + | − | − | − | | | |
39 | F | c.3928C>T (p.Arg1310Ter); c.1882C>T (p.Arg628Ter) | − | + | 4 cm | 2.5 cm | − | | | |
40# | F | c.1177C>T (p.Arg393Trp); c.1177C>T (p.Arg393Trp) | + | + | 2.5 cm | 3.5 cm | 2 cm | + | | transient prolonged prothrombin time (INR) |
41# | F | c.338T>C (p.Leu113Pro); c.2855_2858delTTAA (p.Ile952ArgfsTer5) | | + | 3 cm | − | − | | | jaundice free at 5.1 months |
42# | F | c.4239_4240dupTC (p.His1414LeufsTer18); c.2755T>A (p.Ser919Thr), c.4343G>A (p.Gly1448Asp) | − | + | 1.5 cm | 3 | − | | | hypoglycemia, persistent jaundice at 7.5 months |
43# | F | c.1177C>T (p.Arg393Trp); c.2980delA (p.Ile994LeufsTer29) | | + | − | − | − | + | + | subclinical jaundice at 3.9 months |
44# | F | c.3825C>G (p.Tyr1275Ter); c.2077G>A (p.Gly693Arg) | − | + | 2 cm | − | − | | | |
45# | F | c.3928C>T (p.Arg1310Ter); c.116delA (p.Tyr39SerfsTer40) | − | + | 2 cm | 2 cm | − | | | |
46# | M | c.1939G>T (p.Glu647Ter); c.4384delG (p.Glu1462ArgfsTer8) | − | + | 3 cm | − | − | | | |
47# | F | c.3196C>T (p.Arg1066Ter); c.2439+5G>A | − | + | 2 cm | − | − | | | |
48# | M | c.3825C>G (p.Tyr1275Ter); c.3825C>G (p.Tyr1275Ter) | − | + | − | − | − | | | |
49 | M | c.4465_4473delinsGGCCCACAG (p.Ile1489_Ile1491delinsGlyProGln); c.2302C>T (p.Arg768Trp) | − | + | 2.5cm | 2.5 cm | − | | | |
50# | M | c.389G>A (p.Trp130Ter); c.3196C>T (p.Arg1066Ter) | + | + | 2.5 cm | 2 cm | − | | | |
51 | M | c.1939G>T (p.Glu647Ter); c.3928C>T (p.Arg1310Ter) | − | + | − | − | − | | | |
52# | M | c.2830G>T (p.Glu944Ter); c.4465_4473delinsGGCCCACAG (p.Ile1489_Ile1491delinsGlyProGln) | − | + | 2 cm | − | 2 cm | | | |
53# | M | c.1078G>T (p.Gly360Ter), c.4239_4240dupTC (p.His1414LeufsTer18), c.2755T>A (p.Ser919Thr) | + | + | 3 cm | 4 cm | − | + | + | |