SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.38396898C>A | CA373513454 | ALDH1B1 | c.1150C>A (p.Leu384Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.38396898C= | CA1847333449 | ALDH1B1 | c.1150C= (p.Leu384=) | |
| 9 | g.38396898C>G | CA373513456 | ALDH1B1 | c.1150C>G (p.Leu384Val) | |
| 9 | g.38396898C>T | CA373513458 | ALDH1B1 | c.1150C>T (p.Leu384Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.38396899T>A | CA373513464 | ALDH1B1 | c.1151T>A (p.Leu384His) | |
| 9 | g.38396899T>C | CA373513462 | ALDH1B1 | c.1151T>C (p.Leu384Pro) | |
| 9 | g.38396899T>G | CA373513460 | ALDH1B1 | c.1151T>G (p.Leu384Arg) | |
| 9 | g.38396900C>A | CA465127968 | ALDH1B1 | c.1152C>A (p.Leu384=) | |
| 9 | g.38396900C= | CA1847333454 | ALDH1B1 | c.1152C= (p.Leu384=) | |
| 9 | g.38396900C>G | CA465127969 | ALDH1B1 | c.1152C>G (p.Leu384=) | |
| 9 | g.38396900C>T | CA465127966 | ALDH1B1 | c.1152C>T (p.Leu384=) | dbSNP gnomAD v2 |
| 9 | g.38396901C>A | CA373513466 | ALDH1B1 | c.1153C>A (p.Leu385Ile) | gnomAD v4 |
| 9 | g.38396901C= | CA1847333456 | ALDH1B1 | c.1153C= (p.Leu385=) | |
| 9 | g.38396901C>G | CA373513467 | ALDH1B1 | c.1153C>G (p.Leu385Val) | |
| 9 | g.38396901C>T | CA373513469 | ALDH1B1 | c.1153C>T (p.Leu385Phe) | dbSNP gnomAD v4 |
| 9 | g.38396902T>A | CA373513472 | ALDH1B1 | c.1154T>A (p.Leu385His) | dbSNP |
| 9 | g.38396902T>C | CA373513474 | ALDH1B1 | c.1154T>C (p.Leu385Pro) | |
| 9 | g.38396902T>G | CA373513476 | ALDH1B1 | c.1154T>G (p.Leu385Arg) | |
| 9 | g.38396902T= | CA1847333464 | ALDH1B1 | c.1154T= (p.Leu385=) | |
| 9 | g.38396903C>A | CA465127971 | ALDH1B1 | c.1155C>A (p.Leu385=) | |
| 9 | g.38396903C>G | CA465127972 | ALDH1B1 | c.1155C>G (p.Leu385=) | |
| 9 | g.38396903C>T | CA465127973 | ALDH1B1 | c.1155C>T (p.Leu385=) | |
| 9 | g.38396903_38396905delinsCTG | CA1847333467 | ALDH1B1 | c.1155_1157delinsCTG (p.Leu385=) | |
| 9 | g.38396904T>A | CA373513482 | ALDH1B1 | c.1156T>A (p.Cys386Ser) | |
| 9 | g.38396904T>C | CA373513478 | ALDH1B1 | c.1156T>C (p.Cys386Arg) | |
| 9 | g.38396904T>G | CA373513480 | ALDH1B1 | c.1156T>G (p.Cys386Gly) | |
| 9 | g.38396906_38396907del | CA1847333470 | ALDH1B1 | c.1158_1159del (p.Cys386TrpfsTer23) | dbSNP |
| 9 | g.38396905G>A | CA373513484 | ALDH1B1 | c.1157G>A (p.Cys386Tyr) | |
| 9 | g.38396905G>C | CA373513486 | ALDH1B1 | c.1157G>C (p.Cys386Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.38396905G= | CA1847333471 | ALDH1B1 | c.1157G= (p.Cys386=) | |
| 9 | g.38396905G>T | CA373513488 | ALDH1B1 | c.1157G>T (p.Cys386Phe) | |
| 9 | g.38396906T>A | CA373513490 | ALDH1B1 | c.1158T>A (p.Cys386Ter) | |
| 9 | g.38396906T>C | CA465127974 | ALDH1B1 | c.1158T>C (p.Cys386=) | gnomAD v4 |
| 9 | g.38396906T>G | CA373513492 | ALDH1B1 | c.1158T>G (p.Cys386Trp) | |
| 9 | g.38396907G>A | CA373513498 | ALDH1B1 | c.1159G>A (p.Gly387Ser) | |
| 9 | g.38396907G>C | CA373513494 | ALDH1B1 | c.1159G>C (p.Gly387Arg) | dbSNP |
| 9 | g.38396907G= | CA1847333476 | ALDH1B1 | c.1159G= (p.Gly387=) | |
| 9 | g.38396907G>T | CA373513496 | ALDH1B1 | c.1159G>T (p.Gly387Cys) | dbSNP |
| 9 | g.38396908G>A | CA373513500 | ALDH1B1 | c.1160G>A (p.Gly387Asp) | |
| 9 | g.38396908G>C | CA373513502 | ALDH1B1 | c.1160G>C (p.Gly387Ala) | |
| 9 | g.38396908G>T | CA373513504 | ALDH1B1 | c.1160G>T (p.Gly387Val) | dbSNP |
| 9 | g.38396908_38396909delinsGC | CA1847333480 | ALDH1B1 | c.1160_1161delinsGC (p.Gly387=) | |
| 9 | g.38396909del | CA324234 | ALDH1B1 | c.1161del (p.Gly388GlufsTer23) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396909C>A | CA465127976 | ALDH1B1 | c.1161C>A (p.Gly387=) | |
| 9 | g.38396909C= | CA1847333483 | ALDH1B1 | c.1161C= (p.Gly387=) | |
| 9 | g.38396909C>G | CA465127977 | ALDH1B1 | c.1161C>G (p.Gly387=) | dbSNP |
| 9 | g.38396909C>T | CA192998682 | ALDH1B1 | c.1161C>T (p.Gly387=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396910G>A | CA5064064 | ALDH1B1 | c.1162G>A (p.Gly388Arg) | dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.38396910G>C | CA373513509 | ALDH1B1 | c.1162G>C (p.Gly388Arg) | |
| 9 | g.38396910G= | CA1847333490 | ALDH1B1 | c.1162G= (p.Gly388=) | |
| 9 | g.38396910G>T | CA373513511 | ALDH1B1 | c.1162G>T (p.Gly388Ter) | |
| 9 | g.38396911del | CA373513513 | ALDH1B1 | c.1163del (p.Gly388GlufsTer23) | |
| 9 | g.38396911G>A | CA373513515 | ALDH1B1 | c.1163G>A (p.Gly388Glu) | |
| 9 | g.38396911G>C | CA373513517 | ALDH1B1 | c.1163G>C (p.Gly388Ala) | |
| 9 | g.38396911G= | CA1847333496 | ALDH1B1 | c.1163G= (p.Gly388=) | |
| 9 | g.38396911G>T | CA373513519 | ALDH1B1 | c.1163G>T (p.Gly388Val) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.38396912A= | CA1847333500 | ALDH1B1 | c.1164A= (p.Gly388=) | |
| 9 | g.38396912A>C | CA465127769 | ALDH1B1 | c.1164A>C (p.Gly388=) | |
| 9 | g.38396912A>G | CA5064065 | ALDH1B1 | c.1164A>G (p.Gly388=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396912A>T | CA465127774 | ALDH1B1 | c.1164A>T (p.Gly388=) | |
| 9 | g.38396913G>A | CA373513527 | ALDH1B1 | c.1165G>A (p.Glu389Lys) | |
| 9 | g.38396913G>C | CA373513523 | ALDH1B1 | c.1165G>C (p.Glu389Gln) | gnomAD v4 |
| 9 | g.38396913G>T | CA373513525 | ALDH1B1 | c.1165G>T (p.Glu389Ter) | |
| 9 | g.38396914A>C | CA373513529 | ALDH1B1 | c.1166A>C (p.Glu389Ala) | |
| 9 | g.38396914A>G | CA373513530 | ALDH1B1 | c.1166A>G (p.Glu389Gly) | gnomAD v4 |
| 9 | g.38396914A>T | CA373513532 | ALDH1B1 | c.1166A>T (p.Glu389Val) | |
| 9 | g.38396915G>A | CA465127779 | ALDH1B1 | c.1167G>A (p.Glu389=) | gnomAD v4 |
| 9 | g.38396915G>C | CA373513534 | ALDH1B1 | c.1167G>C (p.Glu389Asp) | |
| 9 | g.38396915G>T | CA373513536 | ALDH1B1 | c.1167G>T (p.Glu389Asp) | |
| 9 | g.38396916C>A | CA373513541 | ALDH1B1 | c.1168C>A (p.Arg390Ser) | |
| 9 | g.38396916C= | CA1847333504 | ALDH1B1 | c.1168C= (p.Arg390=) | |
| 9 | g.38396916C>G | CA373513539 | ALDH1B1 | c.1168C>G (p.Arg390Gly) | gnomAD v4 |
| 9 | g.38396916C>T | CA5064066 | ALDH1B1 | c.1168C>T (p.Arg390Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396917G>A | CA5064067 | ALDH1B1 | c.1169G>A (p.Arg390His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396917G>C | CA373513543 | ALDH1B1 | c.1169G>C (p.Arg390Pro) | |
| 9 | g.38396917G= | CA1847333513 | ALDH1B1 | c.1169G= (p.Arg390=) | |
| 9 | g.38396917G>T | CA373513545 | ALDH1B1 | c.1169G>T (p.Arg390Leu) | |
| 9 | g.38396918T>A | CA465127782 | ALDH1B1 | c.1170T>A (p.Arg390=) | |
| 9 | g.38396918T>C | CA465127781 | ALDH1B1 | c.1170T>C (p.Arg390=) | dbSNP gnomAD v4 |
| 9 | g.38396918T>G | CA465127780 | ALDH1B1 | c.1170T>G (p.Arg390=) | |
| 9 | g.38396918T= | CA1847333517 | ALDH1B1 | c.1170T= (p.Arg390=) | |
| 9 | g.38396919T>A | CA373513547 | ALDH1B1 | c.1171T>A (p.Phe391Ile) | |
| 9 | g.38396919T>C | CA373513549 | ALDH1B1 | c.1171T>C (p.Phe391Leu) | |
| 9 | g.38396919T>G | CA373513551 | ALDH1B1 | c.1171T>G (p.Phe391Val) | |
| 9 | g.38396920T>A | CA373513556 | ALDH1B1 | c.1172T>A (p.Phe391Tyr) | |
| 9 | g.38396920T>C | CA5064068 | ALDH1B1 | c.1172T>C (p.Phe391Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396920T>G | CA373513554 | ALDH1B1 | c.1172T>G (p.Phe391Cys) | gnomAD v4 |
| 9 | g.38396920T= | CA1847333521 | ALDH1B1 | c.1172T= (p.Phe391=) | |
| 9 | g.38396921C>A | CA373513559 | ALDH1B1 | c.1173C>A (p.Phe391Leu) | gnomAD v4 |
| 9 | g.38396921C= | CA1847333530 | ALDH1B1 | c.1173C= (p.Phe391=) | |
| 9 | g.38396921C>G | CA373513561 | ALDH1B1 | c.1173C>G (p.Phe391Leu) | dbSNP |
| 9 | g.38396921C>T | CA5064069 | ALDH1B1 | c.1173C>T (p.Phe391=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396922G>A | CA5064070 | ALDH1B1 | c.1174G>A (p.Gly392Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.38396922G>C | CA373513565 | ALDH1B1 | c.1174G>C (p.Gly392Arg) | gnomAD v4 |
| 9 | g.38396922G= | CA1847333536 | ALDH1B1 | c.1174G= (p.Gly392=) | |
| 9 | g.38396922G>T | CA373513567 | ALDH1B1 | c.1174G>T (p.Gly392Trp) | dbSNP gnomAD v4 |
| 9 | g.38396923G>A | CA373513569 | ALDH1B1 | c.1175G>A (p.Gly392Glu) | |
| 9 | g.38396923G>C | CA373513571 | ALDH1B1 | c.1175G>C (p.Gly392Ala) | |
| 9 | g.38396923G>T | CA373513572 | ALDH1B1 | c.1175G>T (p.Gly392Val) | |
| 9 | g.38396924G>A | CA5064071 | ALDH1B1 | c.1176G>A (p.Gly392=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.38396924G>C | CA465127785 | ALDH1B1 | c.1176G>C (p.Gly392=) | |
| 9 | g.38396924G= | CA1847333541 | ALDH1B1 | c.1176G= (p.Gly392=) | |
| 9 | g.38396924G>T | CA465127783 | ALDH1B1 | c.1176G>T (p.Gly392=) | |
| 9 | g.38396925G>A | CA5064072 | ALDH1B1 | c.1177G>A (p.Glu393Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.38396925G>C | CA373513577 | ALDH1B1 | c.1177G>C (p.Glu393Gln) | |
| 9 | g.38396925G= | CA1847333547 | ALDH1B1 | c.1177G= (p.Glu393=) | |
| 9 | g.38396925G>T | CA373513579 | ALDH1B1 | c.1177G>T (p.Glu393Ter) | |
| 9 | g.38396926A>C | CA373513581 | ALDH1B1 | c.1178A>C (p.Glu393Ala) | |
| 9 | g.38396926A>G | CA373513584 | ALDH1B1 | c.1178A>G (p.Glu393Gly) | |
| 9 | g.38396926A>T | CA373513582 | ALDH1B1 | c.1178A>T (p.Glu393Val) | gnomAD v4 |
| 9 | g.38396927G>A | CA465127787 | ALDH1B1 | c.1179G>A (p.Glu393=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.38396927G>C | CA373513586 | ALDH1B1 | c.1179G>C (p.Glu393Asp) | |
| 9 | g.38396927G= | CA1847333553 | ALDH1B1 | c.1179G= (p.Glu393=) | |
| 9 | g.38396927G>T | CA373513588 | ALDH1B1 | c.1179G>T (p.Glu393Asp) | |
| 9 | g.38396928C>A | CA373513590 | ALDH1B1 | c.1180C>A (p.Arg394Ser) | |
| 9 | g.38396928C= | CA1847333561 | ALDH1B1 | c.1180C= (p.Arg394=) | |
| 9 | g.38396928C>G | CA373513592 | ALDH1B1 | c.1180C>G (p.Arg394Gly) | dbSNP |
| 9 | g.38396928C>T | CA5064073 | ALDH1B1 | c.1180C>T (p.Arg394Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396929G>A | CA5064074 | ALDH1B1 | c.1181G>A (p.Arg394His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396929G>C | CA373513595 | ALDH1B1 | c.1181G>C (p.Arg394Pro) | |
| 9 | g.38396929G= | CA1847333564 | ALDH1B1 | c.1181G= (p.Arg394=) | |
| 9 | g.38396929G>T | CA373513597 | ALDH1B1 | c.1181G>T (p.Arg394Leu) | |
| 9 | g.38396930T>A | CA5064075 | ALDH1B1 | c.1182T>A (p.Arg394=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.38396930T>C | CA465127788 | ALDH1B1 | c.1182T>C (p.Arg394=) | |
| 9 | g.38396930T>G | CA465127789 | ALDH1B1 | c.1182T>G (p.Arg394=) | |
| 9 | g.38396930T= | CA1847333579 | ALDH1B1 | c.1182T= (p.Arg394=) | |
| 9 | g.38396931G>A | CA373513600 | ALDH1B1 | c.1183G>A (p.Gly395Ser) | |
| 9 | g.38396931G>C | CA5064076 | ALDH1B1 | c.1183G>C (p.Gly395Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.38396931G= | CA1847333585 | ALDH1B1 | c.1183G= (p.Gly395=) | |
| 9 | g.38396931G>T | CA373513602 | ALDH1B1 | c.1183G>T (p.Gly395Cys) | |
| 9 | g.38396932G>A | CA192998815 | ALDH1B1 | c.1184G>A (p.Gly395Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396932G>C | CA373513606 | ALDH1B1 | c.1184G>C (p.Gly395Ala) | |
| 9 | g.38396932G= | CA1847333586 | ALDH1B1 | c.1184G= (p.Gly395=) | |
| 9 | g.38396932G>T | CA5064077 | ALDH1B1 | c.1184G>T (p.Gly395Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.38396933T>A | CA465127796 | ALDH1B1 | c.1185T>A (p.Gly395=) | |
| 9 | g.38396933T>C | CA5064078 | ALDH1B1 | c.1185T>C (p.Gly395=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396933T>G | CA465127793 | ALDH1B1 | c.1185T>G (p.Gly395=) | dbSNP |
| 9 | g.38396933T= | CA1847333591 | ALDH1B1 | c.1185T= (p.Gly395=) | |
| 9 | g.38396934T>A | CA373513610 | ALDH1B1 | c.1186T>A (p.Phe396Ile) | |
| 9 | g.38396934T>C | CA373513612 | ALDH1B1 | c.1186T>C (p.Phe396Leu) | |
| 9 | g.38396934T>G | CA373513614 | ALDH1B1 | c.1186T>G (p.Phe396Val) | dbSNP |
| 9 | g.38396934T= | CA1847333592 | ALDH1B1 | c.1186T= (p.Phe396=) | |
| 9 | g.38396935T>A | CA373513616 | ALDH1B1 | c.1187T>A (p.Phe396Tyr) | |
| 9 | g.38396935T>C | CA373513618 | ALDH1B1 | c.1187T>C (p.Phe396Ser) | |
| 9 | g.38396935T>G | CA373513620 | ALDH1B1 | c.1187T>G (p.Phe396Cys) | |
| 9 | g.38396936C>A | CA373513622 | ALDH1B1 | c.1188C>A (p.Phe396Leu) | |
| 9 | g.38396936C>G | CA373513624 | ALDH1B1 | c.1188C>G (p.Phe396Leu) | |
| 9 | g.38396936C>T | CA465127801 | ALDH1B1 | c.1188C>T (p.Phe396=) | gnomAD v4 |
| 9 | g.38396937T>A | CA373513626 | ALDH1B1 | c.1189T>A (p.Phe397Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396937T>C | CA373513628 | ALDH1B1 | c.1189T>C (p.Phe397Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.38396937T>G | CA373513630 | ALDH1B1 | c.1189T>G (p.Phe397Val) | |
| 9 | g.38396937T= | CA1847333594 | ALDH1B1 | c.1189T= (p.Phe397=) | |
| 9 | g.38396938T>A | CA373513632 | ALDH1B1 | c.1190T>A (p.Phe397Tyr) | |
| 9 | g.38396938T>C | CA373513636 | ALDH1B1 | c.1190T>C (p.Phe397Ser) | |
| 9 | g.38396938T>G | CA373513634 | ALDH1B1 | c.1190T>G (p.Phe397Cys) | |
| 9 | g.38396939C>A | CA373513638 | ALDH1B1 | c.1191C>A (p.Phe397Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396939C= | CA1847333601 | ALDH1B1 | c.1191C= (p.Phe397=) | |
| 9 | g.38396939C>G | CA373513640 | ALDH1B1 | c.1191C>G (p.Phe397Leu) | |
| 9 | g.38396939C>T | CA465127804 | ALDH1B1 | c.1191C>T (p.Phe397=) | gnomAD v4 COSMIC |
| 9 | g.38396940A>C | CA373513642 | ALDH1B1 | c.1192A>C (p.Ile398Leu) | gnomAD v4 |
| 9 | g.38396940A>G | CA373513646 | ALDH1B1 | c.1192A>G (p.Ile398Val) | |
| 9 | g.38396940A>T | CA373513644 | ALDH1B1 | c.1192A>T (p.Ile398Phe) | |
| 9 | g.38396941T>A | CA373513648 | ALDH1B1 | c.1193T>A (p.Ile398Asn) | |
| 9 | g.38396941T>C | CA373513650 | ALDH1B1 | c.1193T>C (p.Ile398Thr) | |
| 9 | g.38396941T>G | CA373513652 | ALDH1B1 | c.1193T>G (p.Ile398Ser) | |
| 9 | g.38396942C>A | CA465127809 | ALDH1B1 | c.1194C>A (p.Ile398=) | |
| 9 | g.38396942C= | CA1847333606 | ALDH1B1 | c.1194C= (p.Ile398=) | |
| 9 | g.38396942C>G | CA373513655 | ALDH1B1 | c.1194C>G (p.Ile398Met) | |
| 9 | g.38396942C>T | CA465127810 | ALDH1B1 | c.1194C>T (p.Ile398=) | dbSNP |
| 9 | g.38396943A>C | CA373513656 | ALDH1B1 | c.1195A>C (p.Lys399Gln) | |
| 9 | g.38396943A>G | CA373513658 | ALDH1B1 | c.1195A>G (p.Lys399Glu) | gnomAD v4 |
| 9 | g.38396943A>T | CA373513660 | ALDH1B1 | c.1195A>T (p.Lys399Ter) | |
| 9 | g.38396944A= | CA1847333610 | ALDH1B1 | c.1196A= (p.Lys399=) | |
| 9 | g.38396944A>C | CA373513663 | ALDH1B1 | c.1196A>C (p.Lys399Thr) | |
| 9 | g.38396944A>G | CA5064079 | ALDH1B1 | c.1196A>G (p.Lys399Arg) | dbSNP ExAC gnomAD v2 |
| 9 | g.38396944A>T | CA373513666 | ALDH1B1 | c.1196A>T (p.Lys399Met) | |
| 9 | g.38396945G>A | CA5064080 | ALDH1B1 | c.1197G>A (p.Lys399=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.38396945G>C | CA373513669 | ALDH1B1 | c.1197G>C (p.Lys399Asn) | |
| 9 | g.38396945G= | CA1847333620 | ALDH1B1 | c.1197G= (p.Lys399=) | |
| 9 | g.38396945G>T | CA373513671 | ALDH1B1 | c.1197G>T (p.Lys399Asn) | |
| 9 | g.38396946C>A | CA373513673 | ALDH1B1 | c.1198C>A (p.Pro400Thr) | |
| 9 | g.38396946C= | CA1847333624 | ALDH1B1 | c.1198C= (p.Pro400=) | |
| 9 | g.38396946C>G | CA5064081 | ALDH1B1 | c.1198C>G (p.Pro400Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.38396946C>T | CA373513675 | ALDH1B1 | c.1198C>T (p.Pro400Ser) | |
| 9 | g.38396947del | CA645561340 | ALDH1B1 | c.1199del (p.Pro400LeufsTer11) | COSMIC |
| 9 | g.38396947C>A | CA373513679 | ALDH1B1 | c.1199C>A (p.Pro400His) | |
| 9 | g.38396947C>G | CA373513680 | ALDH1B1 | c.1199C>G (p.Pro400Arg) | gnomAD v4 |
| 9 | g.38396947C>T | CA373513682 | ALDH1B1 | c.1199C>T (p.Pro400Leu) | |
| 9 | g.38396948T>A | CA465127817 | ALDH1B1 | c.1200T>A (p.Pro400=) | gnomAD v4 |
| 9 | g.38396948T>C | CA192998829 | ALDH1B1 | c.1200T>C (p.Pro400=) | dbSNP |
| 9 | g.38396948T>G | CA465127815 | ALDH1B1 | c.1200T>G (p.Pro400=) | dbSNP gnomAD v4 |
| 9 | g.38396948T= | CA1847333627 | ALDH1B1 | c.1200T= (p.Pro400=) | |
| 9 | g.38396949A= | CA1847333628 | ALDH1B1 | c.1201A= (p.Thr401=) | |
| 9 | g.38396949A>C | CA373513685 | ALDH1B1 | c.1201A>C (p.Thr401Pro) | |
| 9 | g.38396949A>G | CA5064082 | ALDH1B1 | c.1201A>G (p.Thr401Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.38396949A>T | CA373513687 | ALDH1B1 | c.1201A>T (p.Thr401Ser) | |
| 9 | g.38396950C>A | CA373513690 | ALDH1B1 | c.1202C>A (p.Thr401Asn) | |
| 9 | g.38396950C>G | CA373513691 | ALDH1B1 | c.1202C>G (p.Thr401Ser) | |
| 9 | g.38396950C>T | CA373513693 | ALDH1B1 | c.1202C>T (p.Thr401Ile) | |
| 9 | g.38396951T>A | CA465127824 | ALDH1B1 | c.1203T>A (p.Thr401=) | |
| 9 | g.38396951T>C | CA465127820 | ALDH1B1 | c.1203T>C (p.Thr401=) | |
| 9 | g.38396951T>G | CA465127822 | ALDH1B1 | c.1203T>G (p.Thr401=) | |
| 9 | g.38396952G>A | CA373513699 | ALDH1B1 | c.1204G>A (p.Val402Ile) | |
| 9 | g.38396952G>C | CA373513697 | ALDH1B1 | c.1204G>C (p.Val402Leu) | |
| 9 | g.38396952G>T | CA373513695 | ALDH1B1 | c.1204G>T (p.Val402Phe) | |
| 9 | g.38396953T>A | CA373513701 | ALDH1B1 | c.1205T>A (p.Val402Asp) | |
| 9 | g.38396953T>C | CA373513703 | ALDH1B1 | c.1205T>C (p.Val402Ala) | |
| 9 | g.38396953T>G | CA373513705 | ALDH1B1 | c.1205T>G (p.Val402Gly) | |
| 9 | g.38396954C>A | CA465127834 | ALDH1B1 | c.1206C>A (p.Val402=) | |
| 9 | g.38396954C>G | CA465127830 | ALDH1B1 | c.1206C>G (p.Val402=) | |
| 9 | g.38396954C>T | CA465127832 | ALDH1B1 | c.1206C>T (p.Val402=) | |
| 9 | g.38396955T>A | CA373513708 | ALDH1B1 | c.1207T>A (p.Phe403Ile) | |
| 9 | g.38396955T>C | CA373513709 | ALDH1B1 | c.1207T>C (p.Phe403Leu) | |
| 9 | g.38396955T>G | CA373513711 | ALDH1B1 | c.1207T>G (p.Phe403Val) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.38396955T= | CA1847333632 | ALDH1B1 | c.1207T= (p.Phe403=) | |
| 9 | g.38396956T>A | CA373513717 | ALDH1B1 | c.1208T>A (p.Phe403Tyr) | |
| 9 | g.38396956T>C | CA373513714 | ALDH1B1 | c.1208T>C (p.Phe403Ser) | gnomAD v4 |
| 9 | g.38396956T>G | CA373513715 | ALDH1B1 | c.1208T>G (p.Phe403Cys) | |
| 9 | g.38396957T>A | CA373513719 | ALDH1B1 | c.1209T>A (p.Phe403Leu) | |
| 9 | g.38396957T>C | CA465127835 | ALDH1B1 | c.1209T>C (p.Phe403=) | dbSNP |
| 9 | g.38396957T>G | CA373513721 | ALDH1B1 | c.1209T>G (p.Phe403Leu) | |
| 9 | g.38396957T= | CA1847333636 | ALDH1B1 | c.1209T= (p.Phe403=) | |
| 9 | g.38396958G>A | CA373513723 | ALDH1B1 | c.1210G>A (p.Gly404Ser) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.38396958G>C | CA373513724 | ALDH1B1 | c.1210G>C (p.Gly404Arg) | |
| 9 | g.38396958G= | CA1847333638 | ALDH1B1 | c.1210G= (p.Gly404=) | |
| 9 | g.38396958G>T | CA373513726 | ALDH1B1 | c.1210G>T (p.Gly404Cys) | |
| 9 | g.38396959G>A | CA5064083 | ALDH1B1 | c.1211G>A (p.Gly404Asp) | dbSNP ExAC gnomAD v2 |
| 9 | g.38396959G>C | CA373513732 | ALDH1B1 | c.1211G>C (p.Gly404Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.38396959G= | CA1847333648 | ALDH1B1 | c.1211G= (p.Gly404=) | |
| 9 | g.38396959G>T | CA373513730 | ALDH1B1 | c.1211G>T (p.Gly404Val) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.38396960T>A | CA465127841 | ALDH1B1 | c.1212T>A (p.Gly404=) | |
| 9 | g.38396960T>C | CA465127840 | ALDH1B1 | c.1212T>C (p.Gly404=) | |
| 9 | g.38396960T>G | CA465127842 | ALDH1B1 | c.1212T>G (p.Gly404=) | |
| 9 | g.38396961G>A | CA373513734 | ALDH1B1 | c.1213G>A (p.Gly405Ser) | |
| 9 | g.38396961G>C | CA373513736 | ALDH1B1 | c.1213G>C (p.Gly405Arg) | |
| 9 | g.38396961G>T | CA373513738 | ALDH1B1 | c.1213G>T (p.Gly405Cys) | |
| 9 | g.38396962G>A | CA373513740 | ALDH1B1 | c.1214G>A (p.Gly405Asp) | dbSNP gnomAD v4 |
| 9 | g.38396962G>C | CA373513743 | ALDH1B1 | c.1214G>C (p.Gly405Ala) | |
| 9 | g.38396962G= | CA1847333651 | ALDH1B1 | c.1214G= (p.Gly405=) | |
| 9 | g.38396962G>T | CA373513744 | ALDH1B1 | c.1214G>T (p.Gly405Val) | |
| 9 | g.38396963_38396964dup | CA2579342654 | ALDH1B1 | c.1215_1216dup (p.Val406AlafsTer6) | gnomAD v4 |
| 9 | g.38396963C>A | CA465127844 | ALDH1B1 | c.1215C>A (p.Gly405=) | |
| 9 | g.38396963C= | CA1847333656 | ALDH1B1 | c.1215C= (p.Gly405=) | |
| 9 | g.38396963C>G | CA465127843 | ALDH1B1 | c.1215C>G (p.Gly405=) | dbSNP gnomAD v4 |
| 9 | g.38396963C>T | CA5064084 | ALDH1B1 | c.1215C>T (p.Gly405=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396964G>A | CA5064085 | ALDH1B1 | c.1216G>A (p.Val406Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396964G>C | CA373513749 | ALDH1B1 | c.1216G>C (p.Val406Leu) | |
| 9 | g.38396964G= | CA1847333664 | ALDH1B1 | c.1216G= (p.Val406=) | |
| 9 | g.38396964G>T | CA373513751 | ALDH1B1 | c.1216G>T (p.Val406Leu) | |
| 9 | g.38396965T>A | CA373513757 | ALDH1B1 | c.1217T>A (p.Val406Glu) | |
| 9 | g.38396965T>C | CA373513755 | ALDH1B1 | c.1217T>C (p.Val406Ala) | |
| 9 | g.38396965T>G | CA373513753 | ALDH1B1 | c.1217T>G (p.Val406Gly) | |
| 9 | g.38396966G>A | CA465127849 | ALDH1B1 | c.1218G>A (p.Val406=) | gnomAD v4 |
| 9 | g.38396966G>C | CA465127848 | ALDH1B1 | c.1218G>C (p.Val406=) | |
| 9 | g.38396966G>T | CA465127850 | ALDH1B1 | c.1218G>T (p.Val406=) | |
| 9 | g.38396967C>A | CA5064086 | ALDH1B1 | c.1219C>A (p.Gln407Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.38396967C= | CA1847333666 | ALDH1B1 | c.1219C= (p.Gln407=) | |
| 9 | g.38396967C>G | CA373513760 | ALDH1B1 | c.1219C>G (p.Gln407Glu) | gnomAD v4 |
| 9 | g.38396967C>T | CA373513762 | ALDH1B1 | c.1219C>T (p.Gln407Ter) | dbSNP |
| 9 | g.38396968del | CA2690019381 | ALDH1B1 | c.1220del (p.Gln407ArgfsTer4) | gnomAD v4 |
| 9 | g.38396968A>C | CA373513764 | ALDH1B1 | c.1220A>C (p.Gln407Pro) | |
| 9 | g.38396968A>G | CA373513766 | ALDH1B1 | c.1220A>G (p.Gln407Arg) | |
| 9 | g.38396968A>T | CA373513768 | ALDH1B1 | c.1220A>T (p.Gln407Leu) | |
| 9 | g.38396969G>A | CA465127856 | ALDH1B1 | c.1221G>A (p.Gln407=) | |
| 9 | g.38396969G>C | CA373513770 | ALDH1B1 | c.1221G>C (p.Gln407His) | dbSNP gnomAD v4 |
| 9 | g.38396969G= | CA1847333674 | ALDH1B1 | c.1221G= (p.Gln407=) | |
| 9 | g.38396969G>T | CA373513772 | ALDH1B1 | c.1221G>T (p.Gln407His) | gnomAD v4 |
| 9 | g.38396970G>A | CA5064087 | ALDH1B1 | c.1222G>A (p.Asp408Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.38396970G>C | CA373513775 | ALDH1B1 | c.1222G>C (p.Asp408His) | |
| 9 | g.38396970G= | CA1847333677 | ALDH1B1 | c.1222G= (p.Asp408=) | |
| 9 | g.38396970G>T | CA373513778 | ALDH1B1 | c.1222G>T (p.Asp408Tyr) | |
| 9 | g.38396970_38396971dup | CA2690019382 | ALDH1B1 | c.1222_1223dup (p.Asp408GlufsTer4) | gnomAD v4 |
| 9 | g.38396971A= | CA1847333679 | ALDH1B1 | c.1223A= (p.Asp408=) | |
| 9 | g.38396971A>C | CA373513779 | ALDH1B1 | c.1223A>C (p.Asp408Ala) | |
| 9 | g.38396971A>G | CA192998886 | ALDH1B1 | c.1223A>G (p.Asp408Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396971A>T | CA373513783 | ALDH1B1 | c.1223A>T (p.Asp408Val) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.38396972T>A | CA373513786 | ALDH1B1 | c.1224T>A (p.Asp408Glu) | |
| 9 | g.38396972T>C | CA465127861 | ALDH1B1 | c.1224T>C (p.Asp408=) | |
| 9 | g.38396972T>G | CA373513784 | ALDH1B1 | c.1224T>G (p.Asp408Glu) | |
| 9 | g.38396973G>A | CA373513788 | ALDH1B1 | c.1225G>A (p.Asp409Asn) | |
| 9 | g.38396973G>C | CA373513790 | ALDH1B1 | c.1225G>C (p.Asp409His) | |
| 9 | g.38396973G= | CA1847333684 | ALDH1B1 | c.1225G= (p.Asp409=) | |
| 9 | g.38396973G>T | CA373513793 | ALDH1B1 | c.1225G>T (p.Asp409Tyr) | dbSNP gnomAD v4 |
| 9 | g.38396974A>C | CA373513796 | ALDH1B1 | c.1226A>C (p.Asp409Ala) | |
| 9 | g.38396974A>G | CA373513799 | ALDH1B1 | c.1226A>G (p.Asp409Gly) | |
| 9 | g.38396974A>T | CA373513801 | ALDH1B1 | c.1226A>T (p.Asp409Val) | gnomAD v4 |
| 9 | g.38396975C>A | CA373513809 | ALDH1B1 | c.1227C>A (p.Asp409Glu) | |
| 9 | g.38396975C>G | CA373513805 | ALDH1B1 | c.1227C>G (p.Asp409Glu) | |
| 9 | g.38396975C>T | CA465127866 | ALDH1B1 | c.1227C>T (p.Asp409=) | |
| 9 | g.38396976A>C | CA373513811 | ALDH1B1 | c.1228A>C (p.Met410Leu) | gnomAD v4 |
| 9 | g.38396976A>G | CA373513814 | ALDH1B1 | c.1228A>G (p.Met410Val) | gnomAD v4 |
| 9 | g.38396976A>T | CA373513817 | ALDH1B1 | c.1228A>T (p.Met410Leu) | |
| 9 | g.38396977T>A | CA373513820 | ALDH1B1 | c.1229T>A (p.Met410Lys) | |
| 9 | g.38396977T>C | CA192998901 | ALDH1B1 | c.1229T>C (p.Met410Thr) | dbSNP |
| 9 | g.38396977T>G | CA373513824 | ALDH1B1 | c.1229T>G (p.Met410Arg) | |
| 9 | g.38396977T= | CA1847333689 | ALDH1B1 | c.1229T= (p.Met410=) | |
| 9 | g.38396978G>A | CA373513828 | ALDH1B1 | c.1230G>A (p.Met410Ile) | gnomAD v4 |
| 9 | g.38396978G>C | CA373513833 | ALDH1B1 | c.1230G>C (p.Met410Ile) | |
| 9 | g.38396978G>T | CA373513830 | ALDH1B1 | c.1230G>T (p.Met410Ile) | |
| 9 | g.38396979A>C | CA465127868 | ALDH1B1 | c.1231A>C (p.Arg411=) | |
| 9 | g.38396979A>G | CA373513835 | ALDH1B1 | c.1231A>G (p.Arg411Gly) | |
| 9 | g.38396979A>T | CA373513837 | ALDH1B1 | c.1231A>T (p.Arg411Ter) | |
| 9 | g.38396980G>A | CA373513840 | ALDH1B1 | c.1232G>A (p.Arg411Lys) | dbSNP |
| 9 | g.38396980G>C | CA373513843 | ALDH1B1 | c.1232G>C (p.Arg411Thr) | |
| 9 | g.38396980G= | CA1847333695 | ALDH1B1 | c.1232G= (p.Arg411=) | |
| 9 | g.38396980G>T | CA373513846 | ALDH1B1 | c.1232G>T (p.Arg411Ile) | |
| 9 | g.38396981A>C | CA373513849 | ALDH1B1 | c.1233A>C (p.Arg411Ser) | |
| 9 | g.38396981A>G | CA465127876 | ALDH1B1 | c.1233A>G (p.Arg411=) | |
| 9 | g.38396981A>T | CA373513850 | ALDH1B1 | c.1233A>T (p.Arg411Ser) | |
| 9 | g.38396982A= | CA1847333696 | ALDH1B1 | c.1234A= (p.Ile412=) | |
| 9 | g.38396982A>C | CA373513855 | ALDH1B1 | c.1234A>C (p.Ile412Leu) | |
| 9 | g.38396982A>G | CA192998907 | ALDH1B1 | c.1234A>G (p.Ile412Val) | dbSNP |
| 9 | g.38396982A>T | CA373513858 | ALDH1B1 | c.1234A>T (p.Ile412Phe) | |
| 9 | g.38396983T>A | CA5064088 | ALDH1B1 | c.1235T>A (p.Ile412Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.38396983T>C | CA373513864 | ALDH1B1 | c.1235T>C (p.Ile412Thr) | |
| 9 | g.38396983T>G | CA373513867 | ALDH1B1 | c.1235T>G (p.Ile412Ser) | |
| 9 | g.38396983T= | CA1847333698 | ALDH1B1 | c.1235T= (p.Ile412=) | |
| 9 | g.38396984T>A | CA465127879 | ALDH1B1 | c.1236T>A (p.Ile412=) | |
| 9 | g.38396984T>C | CA465127880 | ALDH1B1 | c.1236T>C (p.Ile412=) | dbSNP gnomAD v4 |
| 9 | g.38396984T>G | CA373513869 | ALDH1B1 | c.1236T>G (p.Ile412Met) | dbSNP gnomAD v4 |
| 9 | g.38396984T= | CA1847333702 | ALDH1B1 | c.1236T= (p.Ile412=) | |
| 9 | g.38396985G>A | CA373513871 | ALDH1B1 | c.1237G>A (p.Ala413Thr) | |
| 9 | g.38396985G>C | CA373513874 | ALDH1B1 | c.1237G>C (p.Ala413Pro) | |
| 9 | g.38396985G>T | CA373513876 | ALDH1B1 | c.1237G>T (p.Ala413Ser) | |
| 9 | g.38396986C>A | CA373513879 | ALDH1B1 | c.1238C>A (p.Ala413Asp) | |
| 9 | g.38396986C= | CA1847333706 | ALDH1B1 | c.1238C= (p.Ala413=) | |
| 9 | g.38396986C>G | CA373513881 | ALDH1B1 | c.1238C>G (p.Ala413Gly) | |
| 9 | g.38396986C>T | CA373513884 | ALDH1B1 | c.1238C>T (p.Ala413Val) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.38396987C>A | CA465127884 | ALDH1B1 | c.1239C>A (p.Ala413=) | |
| 9 | g.38396987C= | CA1847333714 | ALDH1B1 | c.1239C= (p.Ala413=) | |
| 9 | g.38396987C>G | CA465127885 | ALDH1B1 | c.1239C>G (p.Ala413=) | |
| 9 | g.38396987C>T | CA5064089 | ALDH1B1 | c.1239C>T (p.Ala413=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.38396988A>C | CA373513898 | ALDH1B1 | c.1240A>C (p.Lys414Gln) | |
| 9 | g.38396988A>G | CA373513900 | ALDH1B1 | c.1240A>G (p.Lys414Glu) | |
| 9 | g.38396988A>T | CA373513904 | ALDH1B1 | c.1240A>T (p.Lys414Ter) | |
| 9 | g.38396989A= | CA1847333718 | ALDH1B1 | c.1241A= (p.Lys414=) | |
| 9 | g.38396989A>C | CA373513907 | ALDH1B1 | c.1241A>C (p.Lys414Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.38396989A>G | CA373513910 | ALDH1B1 | c.1241A>G (p.Lys414Arg) | gnomAD v4 |
| 9 | g.38396989A>T | CA373513911 | ALDH1B1 | c.1241A>T (p.Lys414Ile) | |
| 9 | g.38396990A>C | CA373513914 | ALDH1B1 | c.1242A>C (p.Lys414Asn) | |
| 9 | g.38396990A>G | CA465127888 | ALDH1B1 | c.1242A>G (p.Lys414=) | |
| 9 | g.38396990A>T | CA373513917 | ALDH1B1 | c.1242A>T (p.Lys414Asn) | |
| 9 | g.38396990_38396993delinsAGAG | CA1847333726 | ALDH1B1 | c.1242_1245delinsAGAG (p.Lys414=) | |
| 9 | g.38396991G>A | CA373513920 | ALDH1B1 | c.1243G>A (p.Glu415Lys) | |
| 9 | g.38396991G>C | CA373513925 | ALDH1B1 | c.1243G>C (p.Glu415Gln) | gnomAD v4 |
| 9 | g.38396991G>T | CA373513922 | ALDH1B1 | c.1243G>T (p.Glu415Ter) | |
| 9 | g.38396994_38396996del | CA588147963 | ALDH1B1 | c.1246_1248del (p.Glu416del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396992A>C | CA373513929 | ALDH1B1 | c.1244A>C (p.Glu415Ala) | |
| 9 | g.38396992A>G | CA373513935 | ALDH1B1 | c.1244A>G (p.Glu415Gly) | |
| 9 | g.38396992A>T | CA373513931 | ALDH1B1 | c.1244A>T (p.Glu415Val) | |
| 9 | g.38396993G>A | CA465127890 | ALDH1B1 | c.1245G>A (p.Glu415=) | gnomAD v4 |
| 9 | g.38396993G>C | CA373513937 | ALDH1B1 | c.1245G>C (p.Glu415Asp) | |
| 9 | g.38396993G>T | CA373513940 | ALDH1B1 | c.1245G>T (p.Glu415Asp) | |
| 9 | g.38396994G>A | CA373513944 | ALDH1B1 | c.1246G>A (p.Glu416Lys) | |
| 9 | g.38396994G>C | CA373513949 | ALDH1B1 | c.1246G>C (p.Glu416Gln) | |
| 9 | g.38396994G>T | CA373513946 | ALDH1B1 | c.1246G>T (p.Glu416Ter) | |
| 9 | g.38396995A>C | CA373513953 | ALDH1B1 | c.1247A>C (p.Glu416Ala) | |
| 9 | g.38396995A>G | CA373513959 | ALDH1B1 | c.1247A>G (p.Glu416Gly) | |
| 9 | g.38396995A>T | CA373513955 | ALDH1B1 | c.1247A>T (p.Glu416Val) | |
| 9 | g.38396996G>A | CA465127894 | ALDH1B1 | c.1248G>A (p.Glu416=) | |
| 9 | g.38396996G>C | CA373513962 | ALDH1B1 | c.1248G>C (p.Glu416Asp) | |
| 9 | g.38396996G>T | CA373513965 | ALDH1B1 | c.1248G>T (p.Glu416Asp) | |
| 9 | g.38396997A= | CA1847333732 | ALDH1B1 | c.1249A= (p.Ile417=) | |
| 9 | g.38396997A>C | CA373513968 | ALDH1B1 | c.1249A>C (p.Ile417Leu) | |
| 9 | g.38396997A>G | CA5064090 | ALDH1B1 | c.1249A>G (p.Ile417Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396997A>T | CA373513971 | ALDH1B1 | c.1249A>T (p.Ile417Phe) | |
| 9 | g.38396998T>A | CA373513977 | ALDH1B1 | c.1250T>A (p.Ile417Asn) | |
| 9 | g.38396998T>C | CA373513979 | ALDH1B1 | c.1250T>C (p.Ile417Thr) | gnomAD v4 |
| 9 | g.38396998T>G | CA373513982 | ALDH1B1 | c.1250T>G (p.Ile417Ser) |