| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.89315314_89315318del | CA7723934 | FANCI,POLG | c.3570_3574del (p.Ser1191ArgfsTer18) c.3312_3316del (p.Ser1105ArgfsTer18) c.3849_3853del (p.Ser1284ArgfsTer18) n.5434_5438del c.73+1391_73+1395del c.3981_3985del (p.Ser1328ArgfsTer18) n.3054_3058del c.3807_3811del (p.Ser1270ArgfsTer18) n.3430_3434del c.3669_3673del (p.Ser1224ArgfsTer18) c.*193_*197del (n.*193_*197del) c.3145_3149del n.432_436del n.3856_3860del c.3504_3508del (p.Ser1169ArgfsTer18) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89315313_89315327dup | CA2630253287 | FANCI,POLG | c.3569_3583dup (p.Phe1194_Lys1195insThrSerArgAspPhe) c.3311_3325dup (p.Phe1108_Lys1109insThrSerArgAspPhe) c.3848_3862dup (p.Phe1287_Lys1288insThrSerArgAspPhe) n.5433_5447dup c.73+1381_73+1395dup c.3980_3994dup (p.Phe1331_Lys1332insThrSerArgAspPhe) n.3053_3067dup c.3806_3820dup (p.Phe1273_Lys1274insThrSerArgAspPhe) n.3429_3443dup c.3668_3682dup (p.Phe1227_Lys1228insThrSerArgAspPhe) c.*192_*206dup (n.*192_*206dup) c.3144_3158dup n.431_445dup n.3855_3869dup c.3503_3517dup (p.Phe1172_Lys1173insThrSerArgAspPhe) | gnomAD v4 |
| 15 | g.89315318C>A | CA492067748 | FANCI,POLG | c.3574C>A (p.Arg1192=) c.3316C>A (p.Arg1106=) c.3853C>A (p.Arg1285=) n.5438C>A c.73+1388G>T c.3985C>A (p.Arg1329=) n.3058C>A c.3811C>A (p.Arg1271=) n.3434C>A c.3673C>A (p.Arg1225=) c.*197C>A (n.*197C>A) c.3149C>A n.436C>A n.3860C>A c.3508C>A (p.Arg1170=) | |
| 15 | g.89315318C= | CA2194534441 | FANCI,POLG | c.3574C= (p.Arg1192=) c.3316C= (p.Arg1106=) c.3853C= (p.Arg1285=) n.5438C= c.73+1388G= c.3985C= (p.Arg1329=) n.3058C= c.3811C= (p.Arg1271=) n.3434C= c.3673C= (p.Arg1225=) c.*197C= (n.*197C=) c.3149C= n.436C= n.3860C= c.3508C= (p.Arg1170=) | |
| 15 | g.89315318C>G | CA393744677 | FANCI,POLG | c.3574C>G (p.Arg1192Gly) c.3316C>G (p.Arg1106Gly) c.3853C>G (p.Arg1285Gly) n.5438C>G c.73+1388G>C c.3985C>G (p.Arg1329Gly) n.3058C>G c.3811C>G (p.Arg1271Gly) n.3434C>G c.3673C>G (p.Arg1225Gly) c.*197C>G (n.*197C>G) c.3149C>G n.436C>G n.3860C>G c.3508C>G (p.Arg1170Gly) | gnomAD v4 |
| 15 | g.89315318C>T | CA251645 | FANCI,POLG | c.3574C>T (p.Arg1192Ter) c.3316C>T (p.Arg1106Ter) c.3853C>T (p.Arg1285Ter) n.5438C>T c.73+1388G>A c.3985C>T (p.Arg1329Ter) n.3058C>T c.3811C>T (p.Arg1271Ter) n.3434C>T c.3673C>T (p.Arg1225Ter) c.*197C>T (n.*197C>T) c.3149C>T n.436C>T n.3860C>T c.3508C>T (p.Arg1170Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89315319G>A | CA251642 | FANCI,POLG | c.3575G>A (p.Arg1192Gln) c.3317G>A (p.Arg1106Gln) c.3854G>A (p.Arg1285Gln) n.5439G>A c.73+1387C>T c.3986G>A (p.Arg1329Gln) n.3059G>A c.3812G>A (p.Arg1271Gln) n.3435G>A c.3674G>A (p.Arg1225Gln) c.*198G>A (n.*198G>A) c.3150G>A n.437G>A n.3861G>A c.3509G>A (p.Arg1170Gln) | ClinVar dbSNP gnomAD v4 |
| 15 | g.89315319G>C | CA393744683 | FANCI,POLG | c.3575G>C (p.Arg1192Pro) c.3317G>C (p.Arg1106Pro) c.3854G>C (p.Arg1285Pro) n.5439G>C c.73+1387C>G c.3986G>C (p.Arg1329Pro) n.3059G>C c.3812G>C (p.Arg1271Pro) n.3435G>C c.3674G>C (p.Arg1225Pro) c.*198G>C (n.*198G>C) c.3150G>C n.437G>C n.3861G>C c.3509G>C (p.Arg1170Pro) | |
| 15 | g.89315319G= | CA2194534445 | FANCI,POLG | c.3575G= (p.Arg1192=) c.3317G= (p.Arg1106=) c.3854G= (p.Arg1285=) n.5439G= c.73+1387C= c.3986G= (p.Arg1329=) n.3059G= c.3812G= (p.Arg1271=) n.3435G= c.3674G= (p.Arg1225=) c.*198G= (n.*198G=) c.3150G= n.437G= n.3861G= c.3509G= (p.Arg1170=) | |
| 15 | g.89315319G>T | CA393744685 | FANCI,POLG | c.3575G>T (p.Arg1192Leu) c.3317G>T (p.Arg1106Leu) c.3854G>T (p.Arg1285Leu) n.5439G>T c.73+1387C>A c.3986G>T (p.Arg1329Leu) n.3059G>T c.3812G>T (p.Arg1271Leu) n.3435G>T c.3674G>T (p.Arg1225Leu) c.*198G>T (n.*198G>T) c.3150G>T n.437G>T n.3861G>T c.3509G>T (p.Arg1170Leu) | gnomAD v4 |
| 15 | g.89315320A>C | CA492067766 | FANCI,POLG | c.3576A>C (p.Arg1192=) c.3318A>C (p.Arg1106=) c.3855A>C (p.Arg1285=) n.5440A>C c.73+1386T>G c.3987A>C (p.Arg1329=) n.3060A>C c.3813A>C (p.Arg1271=) n.3436A>C c.3675A>C (p.Arg1225=) c.*199A>C (n.*199A>C) c.3151A>C n.438A>C n.3862A>C c.3510A>C (p.Arg1170=) | |
| 15 | g.89315320A>G | CA492067764 | FANCI,POLG | c.3576A>G (p.Arg1192=) c.3318A>G (p.Arg1106=) c.3855A>G (p.Arg1285=) n.5440A>G c.73+1386T>C c.3987A>G (p.Arg1329=) n.3060A>G c.3813A>G (p.Arg1271=) n.3436A>G c.3675A>G (p.Arg1225=) c.*199A>G (n.*199A>G) c.3151A>G n.438A>G n.3862A>G c.3510A>G (p.Arg1170=) | |
| 15 | g.89315320A>T | CA492067759 | FANCI,POLG | c.3576A>T (p.Arg1192=) c.3318A>T (p.Arg1106=) c.3855A>T (p.Arg1285=) n.5440A>T c.73+1386T>A c.3987A>T (p.Arg1329=) n.3060A>T c.3813A>T (p.Arg1271=) n.3436A>T c.3675A>T (p.Arg1225=) c.*199A>T (n.*199A>T) c.3151A>T n.438A>T n.3862A>T c.3510A>T (p.Arg1170=) | |
| 15 | g.89315320dup | CA2630253288 | FANCI,POLG | c.3576dup (p.Asp1193ArgfsTer18) c.3318dup (p.Asp1107ArgfsTer18) c.3855dup (p.Asp1286ArgfsTer18) n.5440dup c.73+1386dup c.3987dup (p.Asp1330ArgfsTer18) n.3060dup c.3813dup (p.Asp1272ArgfsTer18) n.3436dup c.3675dup (p.Asp1226ArgfsTer18) c.*199dup (n.*199dup) c.3151dup n.438dup n.3862dup c.3510dup (p.Asp1171ArgfsTer18) | gnomAD v4 |
| 15 | g.89315321G>A | CA393744687 | FANCI,POLG | c.3577G>A (p.Asp1193Asn) c.3319G>A (p.Asp1107Asn) c.3856G>A (p.Asp1286Asn) n.5441G>A c.73+1385C>T c.3988G>A (p.Asp1330Asn) n.3061G>A c.3814G>A (p.Asp1272Asn) n.3437G>A c.3676G>A (p.Asp1226Asn) c.*200G>A (n.*200G>A) c.3152G>A n.439G>A n.3863G>A c.3511G>A (p.Asp1171Asn) | |
| 15 | g.89315321G>C | CA393744690 | FANCI,POLG | c.3577G>C (p.Asp1193His) c.3319G>C (p.Asp1107His) c.3856G>C (p.Asp1286His) n.5441G>C c.73+1385C>G c.3988G>C (p.Asp1330His) n.3061G>C c.3814G>C (p.Asp1272His) n.3437G>C c.3676G>C (p.Asp1226His) c.*200G>C (n.*200G>C) c.3152G>C n.439G>C n.3863G>C c.3511G>C (p.Asp1171His) | |
| 15 | g.89315321G>T | CA393744692 | FANCI,POLG | c.3577G>T (p.Asp1193Tyr) c.3319G>T (p.Asp1107Tyr) c.3856G>T (p.Asp1286Tyr) n.5441G>T c.73+1385C>A c.3988G>T (p.Asp1330Tyr) n.3061G>T c.3814G>T (p.Asp1272Tyr) n.3437G>T c.3676G>T (p.Asp1226Tyr) c.*200G>T (n.*200G>T) c.3152G>T n.439G>T n.3863G>T c.3511G>T (p.Asp1171Tyr) | |
| 15 | g.89315322A>C | CA393744696 | FANCI,POLG | c.3578A>C (p.Asp1193Ala) c.3320A>C (p.Asp1107Ala) c.3857A>C (p.Asp1286Ala) n.5442A>C c.73+1384T>G c.3989A>C (p.Asp1330Ala) n.3062A>C c.3815A>C (p.Asp1272Ala) n.3438A>C c.3677A>C (p.Asp1226Ala) c.*201A>C (n.*201A>C) c.3153A>C n.440A>C n.3864A>C c.3512A>C (p.Asp1171Ala) | gnomAD v4 |
| 15 | g.89315322A>G | CA393744698 | FANCI,POLG | c.3578A>G (p.Asp1193Gly) c.3320A>G (p.Asp1107Gly) c.3857A>G (p.Asp1286Gly) n.5442A>G c.73+1384T>C c.3989A>G (p.Asp1330Gly) n.3062A>G c.3815A>G (p.Asp1272Gly) n.3438A>G c.3677A>G (p.Asp1226Gly) c.*201A>G (n.*201A>G) c.3153A>G n.440A>G n.3864A>G c.3512A>G (p.Asp1171Gly) | |
| 15 | g.89315322A>T | CA393744700 | FANCI,POLG | c.3578A>T (p.Asp1193Val) c.3320A>T (p.Asp1107Val) c.3857A>T (p.Asp1286Val) n.5442A>T c.73+1384T>A c.3989A>T (p.Asp1330Val) n.3062A>T c.3815A>T (p.Asp1272Val) n.3438A>T c.3677A>T (p.Asp1226Val) c.*201A>T (n.*201A>T) c.3153A>T n.440A>T n.3864A>T c.3512A>T (p.Asp1171Val) | |
| 15 | g.89315323C>A | CA393744703 | FANCI,POLG | c.3579C>A (p.Asp1193Glu) c.3321C>A (p.Asp1107Glu) c.3858C>A (p.Asp1286Glu) n.5443C>A c.73+1383G>T c.3990C>A (p.Asp1330Glu) n.3063C>A c.3816C>A (p.Asp1272Glu) n.3439C>A c.3678C>A (p.Asp1226Glu) c.*202C>A (n.*202C>A) c.3154C>A n.441C>A n.3865C>A c.3513C>A (p.Asp1171Glu) | |
| 15 | g.89315323C>G | CA393744705 | FANCI,POLG | c.3579C>G (p.Asp1193Glu) c.3321C>G (p.Asp1107Glu) c.3858C>G (p.Asp1286Glu) n.5443C>G c.73+1383G>C c.3990C>G (p.Asp1330Glu) n.3063C>G c.3816C>G (p.Asp1272Glu) n.3439C>G c.3678C>G (p.Asp1226Glu) c.*202C>G (n.*202C>G) c.3154C>G n.441C>G n.3865C>G c.3513C>G (p.Asp1171Glu) | |
| 15 | g.89315323C>T | CA492067779 | FANCI,POLG | c.3579C>T (p.Asp1193=) c.3321C>T (p.Asp1107=) c.3858C>T (p.Asp1286=) n.5443C>T c.73+1383G>A c.3990C>T (p.Asp1330=) n.3063C>T c.3816C>T (p.Asp1272=) n.3439C>T c.3678C>T (p.Asp1226=) c.*202C>T (n.*202C>T) c.3154C>T n.441C>T n.3865C>T c.3513C>T (p.Asp1171=) | |
| 15 | g.89315324T>A | CA393744712 | FANCI,POLG | c.3580T>A (p.Phe1194Ile) c.3322T>A (p.Phe1108Ile) c.3859T>A (p.Phe1287Ile) n.5444T>A c.73+1382A>T c.3991T>A (p.Phe1331Ile) n.3064T>A c.3817T>A (p.Phe1273Ile) n.3440T>A c.3679T>A (p.Phe1227Ile) c.*203T>A (n.*203T>A) c.3155T>A n.442T>A n.3866T>A c.3514T>A (p.Phe1172Ile) | dbSNP |
| 15 | g.89315324T>C | CA393744710 | FANCI,POLG | c.3580T>C (p.Phe1194Leu) c.3322T>C (p.Phe1108Leu) c.3859T>C (p.Phe1287Leu) n.5444T>C c.73+1382A>G c.3991T>C (p.Phe1331Leu) n.3064T>C c.3817T>C (p.Phe1273Leu) n.3440T>C c.3679T>C (p.Phe1227Leu) c.*203T>C (n.*203T>C) c.3155T>C n.442T>C n.3866T>C c.3514T>C (p.Phe1172Leu) | |
| 15 | g.89315324T>G | CA393744709 | FANCI,POLG | c.3580T>G (p.Phe1194Val) c.3322T>G (p.Phe1108Val) c.3859T>G (p.Phe1287Val) n.5444T>G c.73+1382A>C c.3991T>G (p.Phe1331Val) n.3064T>G c.3817T>G (p.Phe1273Val) n.3440T>G c.3679T>G (p.Phe1227Val) c.*203T>G (n.*203T>G) c.3155T>G n.442T>G n.3866T>G c.3514T>G (p.Phe1172Val) | |
| 15 | g.89315324T= | CA2194534450 | FANCI,POLG | c.3580T= (p.Phe1194=) c.3322T= (p.Phe1108=) c.3859T= (p.Phe1287=) n.5444T= c.73+1382A= c.3991T= (p.Phe1331=) n.3064T= c.3817T= (p.Phe1273=) n.3440T= c.3679T= (p.Phe1227=) c.*203T= (n.*203T=) c.3155T= n.442T= n.3866T= c.3514T= (p.Phe1172=) | |
| 15 | g.89315325T>A | CA393744714 | FANCI,POLG | c.3581T>A (p.Phe1194Tyr) c.3323T>A (p.Phe1108Tyr) c.3860T>A (p.Phe1287Tyr) n.5445T>A c.73+1381A>T c.3992T>A (p.Phe1331Tyr) n.3065T>A c.3818T>A (p.Phe1273Tyr) n.3441T>A c.3680T>A (p.Phe1227Tyr) c.*204T>A (n.*204T>A) c.3156T>A n.443T>A n.3867T>A c.3515T>A (p.Phe1172Tyr) | |
| 15 | g.89315325T>C | CA393744715 | FANCI,POLG | c.3581T>C (p.Phe1194Ser) c.3323T>C (p.Phe1108Ser) c.3860T>C (p.Phe1287Ser) n.5445T>C c.73+1381A>G c.3992T>C (p.Phe1331Ser) n.3065T>C c.3818T>C (p.Phe1273Ser) n.3441T>C c.3680T>C (p.Phe1227Ser) c.*204T>C (n.*204T>C) c.3156T>C n.443T>C n.3867T>C c.3515T>C (p.Phe1172Ser) | |
| 15 | g.89315325T>G | CA393744717 | FANCI,POLG | c.3581T>G (p.Phe1194Cys) c.3323T>G (p.Phe1108Cys) c.3860T>G (p.Phe1287Cys) n.5445T>G c.73+1381A>C c.3992T>G (p.Phe1331Cys) n.3065T>G c.3818T>G (p.Phe1273Cys) n.3441T>G c.3680T>G (p.Phe1227Cys) c.*204T>G (n.*204T>G) c.3156T>G n.443T>G n.3867T>G c.3515T>G (p.Phe1172Cys) | gnomAD v4 |
| 15 | g.89315329_89315334del | CA2573151239 | FANCI,POLG | c.3585_3590del (p.Ile1196_Lys1197del) c.3327_3332del (p.Ile1110_Lys1111del) c.3864_3869del (p.Ile1289_Lys1290del) n.5449_5454del c.73+1376_73+1381del c.3996_4001del (p.Ile1333_Lys1334del) n.3069_3074del c.3822_3827del (p.Ile1275_Lys1276del) n.3445_3450del c.3684_3689del (p.Ile1229_Lys1230del) c.*208_*213del (n.*208_*213del) c.3160_3165del n.447_452del n.3871_3876del c.3519_3524del (p.Ile1174_Lys1175del) | ClinVar dbSNP |
| 15 | g.89315326C>A | CA393744720 | FANCI,POLG | c.3582C>A (p.Phe1194Leu) c.3324C>A (p.Phe1108Leu) c.3861C>A (p.Phe1287Leu) n.5446C>A c.73+1380G>T c.3993C>A (p.Phe1331Leu) n.3066C>A c.3819C>A (p.Phe1273Leu) n.3442C>A c.3681C>A (p.Phe1227Leu) c.*205C>A (n.*205C>A) c.3157C>A n.444C>A n.3868C>A c.3516C>A (p.Phe1172Leu) | |
| 15 | g.89315326C>G | CA393744723 | FANCI,POLG | c.3582C>G (p.Phe1194Leu) c.3324C>G (p.Phe1108Leu) c.3861C>G (p.Phe1287Leu) n.5446C>G c.73+1380G>C c.3993C>G (p.Phe1331Leu) n.3066C>G c.3819C>G (p.Phe1273Leu) n.3442C>G c.3681C>G (p.Phe1227Leu) c.*205C>G (n.*205C>G) c.3157C>G n.444C>G n.3868C>G c.3516C>G (p.Phe1172Leu) | |
| 15 | g.89315326C>T | CA492067798 | FANCI,POLG | c.3582C>T (p.Phe1194=) c.3324C>T (p.Phe1108=) c.3861C>T (p.Phe1287=) n.5446C>T c.73+1380G>A c.3993C>T (p.Phe1331=) n.3066C>T c.3819C>T (p.Phe1273=) n.3442C>T c.3681C>T (p.Phe1227=) c.*205C>T (n.*205C>T) c.3157C>T n.444C>T n.3868C>T c.3516C>T (p.Phe1172=) | gnomAD v4 |
| 15 | g.89315327A>C | CA393744726 | FANCI,POLG | c.3583A>C (p.Lys1195Gln) c.3325A>C (p.Lys1109Gln) c.3862A>C (p.Lys1288Gln) n.5447A>C c.73+1379T>G c.3994A>C (p.Lys1332Gln) n.3067A>C c.3820A>C (p.Lys1274Gln) n.3443A>C c.3682A>C (p.Lys1228Gln) c.*206A>C (n.*206A>C) c.3158A>C n.445A>C n.3869A>C c.3517A>C (p.Lys1173Gln) | |
| 15 | g.89315327A>G | CA393744729 | FANCI,POLG | c.3583A>G (p.Lys1195Glu) c.3325A>G (p.Lys1109Glu) c.3862A>G (p.Lys1288Glu) n.5447A>G c.73+1379T>C c.3994A>G (p.Lys1332Glu) n.3067A>G c.3820A>G (p.Lys1274Glu) n.3443A>G c.3682A>G (p.Lys1228Glu) c.*206A>G (n.*206A>G) c.3158A>G n.445A>G n.3869A>G c.3517A>G (p.Lys1173Glu) | |
| 15 | g.89315327A>T | CA393744731 | FANCI,POLG | c.3583A>T (p.Lys1195Ter) c.3325A>T (p.Lys1109Ter) c.3862A>T (p.Lys1288Ter) n.5447A>T c.73+1379T>A c.3994A>T (p.Lys1332Ter) n.3067A>T c.3820A>T (p.Lys1274Ter) n.3443A>T c.3682A>T (p.Lys1228Ter) c.*206A>T (n.*206A>T) c.3158A>T n.445A>T n.3869A>T c.3517A>T (p.Lys1173Ter) | |
| 15 | g.89315328A= | CA2194534452 | FANCI,POLG | c.3584A= (p.Lys1195=) c.3326A= (p.Lys1109=) c.3863A= (p.Lys1288=) n.5448A= c.73+1378T= c.3995A= (p.Lys1332=) n.3068A= c.3821A= (p.Lys1274=) n.3444A= c.3683A= (p.Lys1228=) c.*207A= (n.*207A=) c.3159A= n.446A= n.3870A= c.3518A= (p.Lys1173=) | |
| 15 | g.89315328A>C | CA393744734 | FANCI,POLG | c.3584A>C (p.Lys1195Thr) c.3326A>C (p.Lys1109Thr) c.3863A>C (p.Lys1288Thr) n.5448A>C c.73+1378T>G c.3995A>C (p.Lys1332Thr) n.3068A>C c.3821A>C (p.Lys1274Thr) n.3444A>C c.3683A>C (p.Lys1228Thr) c.*207A>C (n.*207A>C) c.3159A>C n.446A>C n.3870A>C c.3518A>C (p.Lys1173Thr) | |
| 15 | g.89315328A>G | CA393744735 | FANCI,POLG | c.3584A>G (p.Lys1195Arg) c.3326A>G (p.Lys1109Arg) c.3863A>G (p.Lys1288Arg) n.5448A>G c.73+1378T>C c.3995A>G (p.Lys1332Arg) n.3068A>G c.3821A>G (p.Lys1274Arg) n.3444A>G c.3683A>G (p.Lys1228Arg) c.*207A>G (n.*207A>G) c.3159A>G n.446A>G n.3870A>G c.3518A>G (p.Lys1173Arg) | dbSNP gnomAD v4 |
| 15 | g.89315328A>T | CA393744737 | FANCI,POLG | c.3584A>T (p.Lys1195Met) c.3326A>T (p.Lys1109Met) c.3863A>T (p.Lys1288Met) n.5448A>T c.73+1378T>A c.3995A>T (p.Lys1332Met) n.3068A>T c.3821A>T (p.Lys1274Met) n.3444A>T c.3683A>T (p.Lys1228Met) c.*207A>T (n.*207A>T) c.3159A>T n.446A>T n.3870A>T c.3518A>T (p.Lys1173Met) | |
| 15 | g.89315329G>A | CA492067812 | FANCI,POLG | c.3585G>A (p.Lys1195=) c.3327G>A (p.Lys1109=) c.3864G>A (p.Lys1288=) n.5449G>A c.73+1377C>T c.3996G>A (p.Lys1332=) n.3069G>A c.3822G>A (p.Lys1274=) n.3445G>A c.3684G>A (p.Lys1228=) c.*208G>A (n.*208G>A) c.3160G>A n.447G>A n.3871G>A c.3519G>A (p.Lys1173=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.89315329G>C | CA393744740 | FANCI,POLG | c.3585G>C (p.Lys1195Asn) c.3327G>C (p.Lys1109Asn) c.3864G>C (p.Lys1288Asn) n.5449G>C c.73+1377C>G c.3996G>C (p.Lys1332Asn) n.3069G>C c.3822G>C (p.Lys1274Asn) n.3445G>C c.3684G>C (p.Lys1228Asn) c.*208G>C (n.*208G>C) c.3160G>C n.447G>C n.3871G>C c.3519G>C (p.Lys1173Asn) | |
| 15 | g.89315329G>T | CA393744742 | FANCI,POLG | c.3585G>T (p.Lys1195Asn) c.3327G>T (p.Lys1109Asn) c.3864G>T (p.Lys1288Asn) n.5449G>T c.73+1377C>A c.3996G>T (p.Lys1332Asn) n.3069G>T c.3822G>T (p.Lys1274Asn) n.3445G>T c.3684G>T (p.Lys1228Asn) c.*208G>T (n.*208G>T) c.3160G>T n.447G>T n.3871G>T c.3519G>T (p.Lys1173Asn) | |
| 15 | g.89315330A= | CA2194534458 | FANCI,POLG | c.3586A= (p.Ile1196=) c.3328A= (p.Ile1110=) c.3865A= (p.Ile1289=) n.5450A= c.73+1376T= c.3997A= (p.Ile1333=) n.3070A= c.3823A= (p.Ile1275=) n.3446A= c.3685A= (p.Ile1229=) c.*209A= (n.*209A=) c.3161A= n.448A= n.3872A= c.3520A= (p.Ile1174=) | |
| 15 | g.89315330A>C | CA393744749 | FANCI,POLG | c.3586A>C (p.Ile1196Leu) c.3328A>C (p.Ile1110Leu) c.3865A>C (p.Ile1289Leu) n.5450A>C c.73+1376T>G c.3997A>C (p.Ile1333Leu) n.3070A>C c.3823A>C (p.Ile1275Leu) n.3446A>C c.3685A>C (p.Ile1229Leu) c.*209A>C (n.*209A>C) c.3161A>C n.448A>C n.3872A>C c.3520A>C (p.Ile1174Leu) | |
| 15 | g.89315330A>G | CA7723936 | FANCI,POLG | c.3586A>G (p.Ile1196Val) c.3328A>G (p.Ile1110Val) c.3865A>G (p.Ile1289Val) n.5450A>G c.73+1376T>C c.3997A>G (p.Ile1333Val) n.3070A>G c.3823A>G (p.Ile1275Val) n.3446A>G c.3685A>G (p.Ile1229Val) c.*209A>G (n.*209A>G) c.3161A>G n.448A>G n.3872A>G c.3520A>G (p.Ile1174Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89315330A>T | CA393744745 | FANCI,POLG | c.3586A>T (p.Ile1196Phe) c.3328A>T (p.Ile1110Phe) c.3865A>T (p.Ile1289Phe) n.5450A>T c.73+1376T>A c.3997A>T (p.Ile1333Phe) n.3070A>T c.3823A>T (p.Ile1275Phe) n.3446A>T c.3685A>T (p.Ile1229Phe) c.*209A>T (n.*209A>T) c.3161A>T n.448A>T n.3872A>T c.3520A>T (p.Ile1174Phe) | |
| 15 | g.89315331T>A | CA393744757 | FANCI,POLG | c.3587T>A (p.Ile1196Asn) c.3329T>A (p.Ile1110Asn) c.3866T>A (p.Ile1289Asn) n.5451T>A c.73+1375A>T c.3998T>A (p.Ile1333Asn) n.3071T>A c.3824T>A (p.Ile1275Asn) n.3447T>A c.3686T>A (p.Ile1229Asn) c.*210T>A (n.*210T>A) c.3162T>A n.449T>A n.3873T>A c.3521T>A (p.Ile1174Asn) | |
| 15 | g.89315331T>C | CA393744753 | FANCI,POLG | c.3587T>C (p.Ile1196Thr) c.3329T>C (p.Ile1110Thr) c.3866T>C (p.Ile1289Thr) n.5451T>C c.73+1375A>G c.3998T>C (p.Ile1333Thr) n.3071T>C c.3824T>C (p.Ile1275Thr) n.3447T>C c.3686T>C (p.Ile1229Thr) c.*210T>C (n.*210T>C) c.3162T>C n.449T>C n.3873T>C c.3521T>C (p.Ile1174Thr) |