UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.31816819A>C | CA363414593 | HSPA1A,HSPA1L | c.1063A>C (p.Asn355His) c.568A>C (p.Asn190His) c.-14+4194T>G (n.-14+4194T>G) | gnomAD v4 |
| 6 | g.31816819A>G | CA363414597 | HSPA1A,HSPA1L | c.1063A>G (p.Asn355Asp) c.568A>G (p.Asn190Asp) c.-14+4194T>C (n.-14+4194T>C) | |
| 6 | g.31816819A>T | CA363414588 | HSPA1A,HSPA1L | c.1063A>T (p.Asn355Tyr) c.568A>T (p.Asn190Tyr) c.-14+4194T>A (n.-14+4194T>A) | |
| 6 | g.31816820A>C | CA363414601 | HSPA1A,HSPA1L | c.1064A>C (p.Asn355Thr) c.569A>C (p.Asn190Thr) c.-14+4193T>G (n.-14+4193T>G) | |
| 6 | g.31816820A>G | CA363414603 | HSPA1A,HSPA1L | c.1064A>G (p.Asn355Ser) c.569A>G (p.Asn190Ser) c.-14+4193T>C (n.-14+4193T>C) | |
| 6 | g.31816820A>T | CA363414604 | HSPA1A,HSPA1L | c.1064A>T (p.Asn355Ile) c.569A>T (p.Asn190Ile) c.-14+4193T>A (n.-14+4193T>A) | |
| 6 | g.31816821C>A | CA363414606 | HSPA1A,HSPA1L | c.1065C>A (p.Asn355Lys) c.570C>A (p.Asn190Lys) c.-14+4192G>T (n.-14+4192G>T) | |
| 6 | g.31816821C>G | CA363414608 | HSPA1A,HSPA1L | c.1065C>G (p.Asn355Lys) c.570C>G (p.Asn190Lys) c.-14+4192G>C (n.-14+4192G>C) | |
| 6 | g.31816821C>T | CA449806051 | HSPA1A,HSPA1L | c.1065C>T (p.Asn355=) c.570C>T (p.Asn190=) c.-14+4192G>A (n.-14+4192G>A) | |
| 6 | g.31816822G>A | CA363414617 | HSPA1A,HSPA1L | c.1066G>A (p.Gly356Arg) c.571G>A (p.Gly191Arg) c.-14+4191C>T (n.-14+4191C>T) | gnomAD v4 |
| 6 | g.31816822G>C | CA363414611 | HSPA1A,HSPA1L | c.1066G>C (p.Gly356Arg) c.571G>C (p.Gly191Arg) c.-14+4191C>G (n.-14+4191C>G) | gnomAD v4 |
| 6 | g.31816822G>T | CA363414615 | HSPA1A,HSPA1L | c.1066G>T (p.Gly356Trp) c.571G>T (p.Gly191Trp) c.-14+4191C>A (n.-14+4191C>A) | |
| 6 | g.31816823G>A | CA363414622 | HSPA1A,HSPA1L | c.1067G>A (p.Gly356Glu) c.572G>A (p.Gly191Glu) c.-14+4190C>T (n.-14+4190C>T) | |
| 6 | g.31816823G>C | CA363414623 | HSPA1A,HSPA1L | c.1067G>C (p.Gly356Ala) c.572G>C (p.Gly191Ala) c.-14+4190C>G (n.-14+4190C>G) | |
| 6 | g.31816823G>T | CA363414628 | HSPA1A,HSPA1L | c.1067G>T (p.Gly356Val) c.572G>T (p.Gly191Val) c.-14+4190C>A (n.-14+4190C>A) | |
| 6 | g.31816824G>A | CA449806066 | HSPA1A,HSPA1L | c.1068G>A (p.Gly356=) c.573G>A (p.Gly191=) c.-14+4189C>T (n.-14+4189C>T) | |
| 6 | g.31816824G>C | CA449806064 | HSPA1A,HSPA1L | c.1068G>C (p.Gly356=) c.573G>C (p.Gly191=) c.-14+4189C>G (n.-14+4189C>G) | |
| 6 | g.31816824G>T | CA449806062 | HSPA1A,HSPA1L | c.1068G>T (p.Gly356=) c.573G>T (p.Gly191=) c.-14+4189C>A (n.-14+4189C>A) | |
| 6 | g.31816825C>A | CA363414633 | HSPA1A,HSPA1L | c.1069C>A (p.Arg357Ser) c.574C>A (p.Arg192Ser) c.-14+4188G>T (n.-14+4188G>T) | |
| 6 | g.31816825C= | CA1619307538 | HSPA1A,HSPA1L | c.1069C= (p.Arg357=) c.574C= (p.Arg192=) c.-14+4188G= (n.-14+4188G=) | |
| 6 | g.31816825C>G | CA363414636 | HSPA1A,HSPA1L | c.1069C>G (p.Arg357Gly) c.574C>G (p.Arg192Gly) c.-14+4188G>C (n.-14+4188G>C) | |
| 6 | g.31816825C>T | CA363414639 | HSPA1A,HSPA1L | c.1069C>T (p.Arg357Cys) c.574C>T (p.Arg192Cys) c.-14+4188G>A (n.-14+4188G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.31816826G>A | CA363414645 | HSPA1A,HSPA1L | c.1070G>A (p.Arg357His) c.575G>A (p.Arg192His) c.-14+4187C>T (n.-14+4187C>T) | |
| 6 | g.31816826G>C | CA363414647 | HSPA1A,HSPA1L | c.1070G>C (p.Arg357Pro) c.575G>C (p.Arg192Pro) c.-14+4187C>G (n.-14+4187C>G) | |
| 6 | g.31816826G>T | CA363414643 | HSPA1A,HSPA1L | c.1070G>T (p.Arg357Leu) c.575G>T (p.Arg192Leu) c.-14+4187C>A (n.-14+4187C>A) | |
| 6 | g.31816827C>A | CA449806072 | HSPA1A,HSPA1L | c.1071C>A (p.Arg357=) c.576C>A (p.Arg192=) c.-14+4186G>T (n.-14+4186G>T) | |
| 6 | g.31816827C= | CA1619307539 | HSPA1A,HSPA1L | c.1071C= (p.Arg357=) c.576C= (p.Arg192=) c.-14+4186G= (n.-14+4186G=) | |
| 6 | g.31816827C>G | CA449806076 | HSPA1A,HSPA1L | c.1071C>G (p.Arg357=) c.576C>G (p.Arg192=) c.-14+4186G>C (n.-14+4186G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.31816827C>T | CA449806074 | HSPA1A,HSPA1L | c.1071C>T (p.Arg357=) c.576C>T (p.Arg192=) c.-14+4186G>A (n.-14+4186G>A) | |
| 6 | g.31816828G>A | CA363414650 | HSPA1A,HSPA1L | c.1072G>A (p.Asp358Asn) c.577G>A (p.Asp193Asn) c.-14+4185C>T (n.-14+4185C>T) | |
| 6 | g.31816828G>C | CA363414652 | HSPA1A,HSPA1L | c.1072G>C (p.Asp358His) c.577G>C (p.Asp193His) c.-14+4185C>G (n.-14+4185C>G) | |
| 6 | g.31816828G>T | CA363414655 | HSPA1A,HSPA1L | c.1072G>T (p.Asp358Tyr) c.577G>T (p.Asp193Tyr) c.-14+4185C>A (n.-14+4185C>A) | |
| 6 | g.31816829A>C | CA363414660 | HSPA1A,HSPA1L | c.1073A>C (p.Asp358Ala) c.578A>C (p.Asp193Ala) c.-14+4184T>G (n.-14+4184T>G) | |
| 6 | g.31816829A>G | CA363414663 | HSPA1A,HSPA1L | c.1073A>G (p.Asp358Gly) c.578A>G (p.Asp193Gly) c.-14+4184T>C (n.-14+4184T>C) | gnomAD v4 |
| 6 | g.31816829A>T | CA363414667 | HSPA1A,HSPA1L | c.1073A>T (p.Asp358Val) c.578A>T (p.Asp193Val) c.-14+4184T>A (n.-14+4184T>A) | |
| 6 | g.31816830C>A | CA363414670 | HSPA1A,HSPA1L | c.1074C>A (p.Asp358Glu) c.579C>A (p.Asp193Glu) c.-14+4183G>T (n.-14+4183G>T) | |
| 6 | g.31816830C>G | CA363414673 | HSPA1A,HSPA1L | c.1074C>G (p.Asp358Glu) c.579C>G (p.Asp193Glu) c.-14+4183G>C (n.-14+4183G>C) | |
| 6 | g.31816830C>T | CA449806086 | HSPA1A,HSPA1L | c.1074C>T (p.Asp358=) c.579C>T (p.Asp193=) c.-14+4183G>A (n.-14+4183G>A) | |
| 6 | g.31816831C>A | CA363414677 | HSPA1A,HSPA1L | c.1075C>A (p.Leu359Met) c.580C>A (p.Leu194Met) c.-14+4182G>T (n.-14+4182G>T) | |
| 6 | g.31816831C>G | CA363414678 | HSPA1A,HSPA1L | c.1075C>G (p.Leu359Val) c.580C>G (p.Leu194Val) c.-14+4182G>C (n.-14+4182G>C) | |
| 6 | g.31816831C>T | CA449806088 | HSPA1A,HSPA1L | c.1075C>T (p.Leu359=) c.580C>T (p.Leu194=) c.-14+4182G>A (n.-14+4182G>A) | |
| 6 | g.31816832T>A | CA363414688 | HSPA1A,HSPA1L | c.1076T>A (p.Leu359Gln) c.581T>A (p.Leu194Gln) c.-14+4181A>T (n.-14+4181A>T) | |
| 6 | g.31816832T>C | CA363414691 | HSPA1A,HSPA1L | c.1076T>C (p.Leu359Pro) c.581T>C (p.Leu194Pro) c.-14+4181A>G (n.-14+4181A>G) | |
| 6 | g.31816832T>G | CA363414695 | HSPA1A,HSPA1L | c.1076T>G (p.Leu359Arg) c.581T>G (p.Leu194Arg) c.-14+4181A>C (n.-14+4181A>C) | gnomAD v4 |
| 6 | g.31816833G>A | CA449806093 | HSPA1A,HSPA1L | c.1077G>A (p.Leu359=) c.582G>A (p.Leu194=) c.-14+4180C>T (n.-14+4180C>T) | |
| 6 | g.31816833G>C | CA449806094 | HSPA1A,HSPA1L | c.1077G>C (p.Leu359=) c.582G>C (p.Leu194=) c.-14+4180C>G (n.-14+4180C>G) | |
| 6 | g.31816833G>T | CA449806095 | HSPA1A,HSPA1L | c.1077G>T (p.Leu359=) c.582G>T (p.Leu194=) c.-14+4180C>A (n.-14+4180C>A) | |
| 6 | g.31816834A>C | CA363414704 | HSPA1A,HSPA1L | c.1078A>C (p.Asn360His) c.583A>C (p.Asn195His) c.-14+4179T>G (n.-14+4179T>G) | |
| 6 | g.31816834A>G | CA363414702 | HSPA1A,HSPA1L | c.1078A>G (p.Asn360Asp) c.583A>G (p.Asn195Asp) c.-14+4179T>C (n.-14+4179T>C) | |
| 6 | g.31816834A>T | CA363414699 | HSPA1A,HSPA1L | c.1078A>T (p.Asn360Tyr) c.583A>T (p.Asn195Tyr) c.-14+4179T>A (n.-14+4179T>A) | |
| 6 | g.31816835A>C | CA363414709 | HSPA1A,HSPA1L | c.1079A>C (p.Asn360Thr) c.584A>C (p.Asn195Thr) c.-14+4178T>G (n.-14+4178T>G) | |
| 6 | g.31816835A>G | CA363414711 | HSPA1A,HSPA1L | c.1079A>G (p.Asn360Ser) c.584A>G (p.Asn195Ser) c.-14+4178T>C (n.-14+4178T>C) | |
| 6 | g.31816835A>T | CA363414714 | HSPA1A,HSPA1L | c.1079A>T (p.Asn360Ile) c.584A>T (p.Asn195Ile) c.-14+4178T>A (n.-14+4178T>A) | |
| 6 | g.31816836C>A | CA363414718 | HSPA1A,HSPA1L | c.1080C>A (p.Asn360Lys) c.585C>A (p.Asn195Lys) c.-14+4177G>T (n.-14+4177G>T) | |
| 6 | g.31816836C= | CA1619307540 | HSPA1A,HSPA1L | c.1080C= (p.Asn360=) c.585C= (p.Asn195=) c.-14+4177G= (n.-14+4177G=) | |
| 6 | g.31816836C>G | CA363414721 | HSPA1A,HSPA1L | c.1080C>G (p.Asn360Lys) c.585C>G (p.Asn195Lys) c.-14+4177G>C (n.-14+4177G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.31816836C>T | CA449806101 | HSPA1A,HSPA1L | c.1080C>T (p.Asn360=) c.585C>T (p.Asn195=) c.-14+4177G>A (n.-14+4177G>A) | |
| 6 | g.31816837A>C | CA363414724 | HSPA1A,HSPA1L | c.1081A>C (p.Lys361Gln) c.586A>C (p.Lys196Gln) c.-14+4176T>G (n.-14+4176T>G) | |
| 6 | g.31816837A>G | CA363414726 | HSPA1A,HSPA1L | c.1081A>G (p.Lys361Glu) c.586A>G (p.Lys196Glu) c.-14+4176T>C (n.-14+4176T>C) | |
| 6 | g.31816837A>T | CA363414739 | HSPA1A,HSPA1L | c.1081A>T (p.Lys361Ter) c.586A>T (p.Lys196Ter) c.-14+4176T>A (n.-14+4176T>A) | |
| 6 | g.31816838A>C | CA363414746 | HSPA1A,HSPA1L | c.1082A>C (p.Lys361Thr) c.587A>C (p.Lys196Thr) c.-14+4175T>G (n.-14+4175T>G) | |
| 6 | g.31816838A>G | CA363414749 | HSPA1A,HSPA1L | c.1082A>G (p.Lys361Arg) c.587A>G (p.Lys196Arg) c.-14+4175T>C (n.-14+4175T>C) | |
| 6 | g.31816838A>T | CA363414752 | HSPA1A,HSPA1L | c.1082A>T (p.Lys361Met) c.587A>T (p.Lys196Met) c.-14+4175T>A (n.-14+4175T>A) | |
| 6 | g.31816839G>A | CA449806105 | HSPA1A,HSPA1L | c.1083G>A (p.Lys361=) c.588G>A (p.Lys196=) c.-14+4174C>T (n.-14+4174C>T) | gnomAD v4 |
| 6 | g.31816839G>C | CA363414757 | HSPA1A,HSPA1L | c.1083G>C (p.Lys361Asn) c.588G>C (p.Lys196Asn) c.-14+4174C>G (n.-14+4174C>G) | gnomAD v4 |
| 6 | g.31816839G>T | CA363414761 | HSPA1A,HSPA1L | c.1083G>T (p.Lys361Asn) c.588G>T (p.Lys196Asn) c.-14+4174C>A (n.-14+4174C>A) | |
| 6 | g.31816840A>C | CA363414786 | HSPA1A,HSPA1L | c.1084A>C (p.Ser362Arg) c.589A>C (p.Ser197Arg) c.-14+4173T>G (n.-14+4173T>G) | |
| 6 | g.31816840A>G | CA363414788 | HSPA1A,HSPA1L | c.1084A>G (p.Ser362Gly) c.589A>G (p.Ser197Gly) c.-14+4173T>C (n.-14+4173T>C) | |
| 6 | g.31816840A>T | CA363414782 | HSPA1A,HSPA1L | c.1084A>T (p.Ser362Cys) c.589A>T (p.Ser197Cys) c.-14+4173T>A (n.-14+4173T>A) | |
| 6 | g.31816841G>A | CA363414795 | HSPA1A,HSPA1L | c.1085G>A (p.Ser362Asn) c.590G>A (p.Ser197Asn) c.-14+4172C>T (n.-14+4172C>T) | |
| 6 | g.31816841G>C | CA363414799 | HSPA1A,HSPA1L | c.1085G>C (p.Ser362Thr) c.590G>C (p.Ser197Thr) c.-14+4172C>G (n.-14+4172C>G) | |
| 6 | g.31816841G>T | CA363414805 | HSPA1A,HSPA1L | c.1085G>T (p.Ser362Ile) c.590G>T (p.Ser197Ile) c.-14+4172C>A (n.-14+4172C>A) | |
| 6 | g.31816842C>A | CA363414810 | HSPA1A,HSPA1L | c.1086C>A (p.Ser362Arg) c.591C>A (p.Ser197Arg) c.-14+4171G>T (n.-14+4171G>T) | |
| 6 | g.31816842C>G | CA363414814 | HSPA1A,HSPA1L | c.1086C>G (p.Ser362Arg) c.591C>G (p.Ser197Arg) c.-14+4171G>C (n.-14+4171G>C) | gnomAD v4 |
| 6 | g.31816842C>T | CA449806115 | HSPA1A,HSPA1L | c.1086C>T (p.Ser362=) c.591C>T (p.Ser197=) c.-14+4171G>A (n.-14+4171G>A) | |
| 6 | g.31816843A>C | CA363414815 | HSPA1A,HSPA1L | c.1087A>C (p.Ile363Leu) c.592A>C (p.Ile198Leu) c.-14+4170T>G (n.-14+4170T>G) | |
| 6 | g.31816843A>G | CA363414816 | HSPA1A,HSPA1L | c.1087A>G (p.Ile363Val) c.592A>G (p.Ile198Val) c.-14+4170T>C (n.-14+4170T>C) | |
| 6 | g.31816843A>T | CA363414819 | HSPA1A,HSPA1L | c.1087A>T (p.Ile363Phe) c.592A>T (p.Ile198Phe) c.-14+4170T>A (n.-14+4170T>A) | |
| 6 | g.31816844T>A | CA363414825 | HSPA1A,HSPA1L | c.1088T>A (p.Ile363Asn) c.593T>A (p.Ile198Asn) c.-14+4169A>T (n.-14+4169A>T) | |
| 6 | g.31816844T>C | CA363414827 | HSPA1A,HSPA1L | c.1088T>C (p.Ile363Thr) c.593T>C (p.Ile198Thr) c.-14+4169A>G (n.-14+4169A>G) | |
| 6 | g.31816844T>G | CA363414831 | HSPA1A,HSPA1L | c.1088T>G (p.Ile363Ser) c.593T>G (p.Ile198Ser) c.-14+4169A>C (n.-14+4169A>C) | gnomAD v4 |
| 6 | g.31816845C>A | CA449806123 | HSPA1A,HSPA1L | c.1089C>A (p.Ile363=) c.594C>A (p.Ile198=) c.-14+4168G>T (n.-14+4168G>T) | |
| 6 | g.31816845C>G | CA363414838 | HSPA1A,HSPA1L | c.1089C>G (p.Ile363Met) c.594C>G (p.Ile198Met) c.-14+4168G>C (n.-14+4168G>C) | |
| 6 | g.31816845C>T | CA449806125 | HSPA1A,HSPA1L | c.1089C>T (p.Ile363=) c.594C>T (p.Ile198=) c.-14+4168G>A (n.-14+4168G>A) | |
| 6 | g.31816846A>C | CA363414859 | HSPA1A,HSPA1L | c.1090A>C (p.Asn364His) c.595A>C (p.Asn199His) c.-14+4167T>G (n.-14+4167T>G) | |
| 6 | g.31816846A>G | CA363414847 | HSPA1A,HSPA1L | c.1090A>G (p.Asn364Asp) c.595A>G (p.Asn199Asp) c.-14+4167T>C (n.-14+4167T>C) | |
| 6 | g.31816846A>T | CA363414850 | HSPA1A,HSPA1L | c.1090A>T (p.Asn364Tyr) c.595A>T (p.Asn199Tyr) c.-14+4167T>A (n.-14+4167T>A) | |
| 6 | g.31816847A>C | CA363414863 | HSPA1A,HSPA1L | c.1091A>C (p.Asn364Thr) c.596A>C (p.Asn199Thr) c.-14+4166T>G (n.-14+4166T>G) | |
| 6 | g.31816847A>G | CA363414867 | HSPA1A,HSPA1L | c.1091A>G (p.Asn364Ser) c.596A>G (p.Asn199Ser) c.-14+4166T>C (n.-14+4166T>C) | gnomAD v4 |
| 6 | g.31816847A>T | CA363414871 | HSPA1A,HSPA1L | c.1091A>T (p.Asn364Ile) c.596A>T (p.Asn199Ile) c.-14+4166T>A (n.-14+4166T>A) | |
| 6 | g.31816848C>A | CA363414879 | HSPA1A,HSPA1L | c.1092C>A (p.Asn364Lys) c.597C>A (p.Asn199Lys) c.-14+4165G>T (n.-14+4165G>T) | |
| 6 | g.31816848C>G | CA363414885 | HSPA1A,HSPA1L | c.1092C>G (p.Asn364Lys) c.597C>G (p.Asn199Lys) c.-14+4165G>C (n.-14+4165G>C) | |
| 6 | g.31816848C>T | CA449806135 | HSPA1A,HSPA1L | c.1092C>T (p.Asn364=) c.597C>T (p.Asn199=) c.-14+4165G>A (n.-14+4165G>A) | |
| 6 | g.31816849C>A | CA363414896 | HSPA1A,HSPA1L | c.1093C>A (p.Pro365Thr) c.598C>A (p.Pro200Thr) c.-14+4164G>T (n.-14+4164G>T) | |
| 6 | g.31816849C= | CA1619307541 | HSPA1A,HSPA1L | c.1093C= (p.Pro365=) c.598C= (p.Pro200=) c.-14+4164G= (n.-14+4164G=) | |
| 6 | g.31816849C>G | CA363414899 | HSPA1A,HSPA1L | c.1093C>G (p.Pro365Ala) c.598C>G (p.Pro200Ala) c.-14+4164G>C (n.-14+4164G>C) | |
| 6 | g.31816849C>T | CA363414907 | HSPA1A,HSPA1L | c.1093C>T (p.Pro365Ser) c.598C>T (p.Pro200Ser) c.-14+4164G>A (n.-14+4164G>A) | dbSNP gnomAD v2 |
| 6 | g.31816850C>A | CA363414912 | HSPA1A,HSPA1L | c.1094C>A (p.Pro365His) c.599C>A (p.Pro200His) c.-14+4163G>T (n.-14+4163G>T) | |
| 6 | g.31816850C>G | CA363414919 | HSPA1A,HSPA1L | c.1094C>G (p.Pro365Arg) c.599C>G (p.Pro200Arg) c.-14+4163G>C (n.-14+4163G>C) | |
| 6 | g.31816850C>T | CA363414926 | HSPA1A,HSPA1L | c.1094C>T (p.Pro365Leu) c.599C>T (p.Pro200Leu) c.-14+4163G>A (n.-14+4163G>A) | |
| 6 | g.31816851C>A | CA449806145 | HSPA1A,HSPA1L | c.1095C>A (p.Pro365=) c.600C>A (p.Pro200=) c.-14+4162G>T (n.-14+4162G>T) | |
| 6 | g.31816851C>G | CA449806147 | HSPA1A,HSPA1L | c.1095C>G (p.Pro365=) c.600C>G (p.Pro200=) c.-14+4162G>C (n.-14+4162G>C) | |
| 6 | g.31816851C>T | CA449806149 | HSPA1A,HSPA1L | c.1095C>T (p.Pro365=) c.600C>T (p.Pro200=) c.-14+4162G>A (n.-14+4162G>A) | |
| 6 | g.31816852G>A | CA363414932 | HSPA1A,HSPA1L | c.1096G>A (p.Asp366Asn) c.601G>A (p.Asp201Asn) c.-14+4161C>T (n.-14+4161C>T) | |
| 6 | g.31816852G>C | CA363414930 | HSPA1A,HSPA1L | c.1096G>C (p.Asp366His) c.601G>C (p.Asp201His) c.-14+4161C>G (n.-14+4161C>G) | |
| 6 | g.31816852G>T | CA363414931 | HSPA1A,HSPA1L | c.1096G>T (p.Asp366Tyr) c.601G>T (p.Asp201Tyr) c.-14+4161C>A (n.-14+4161C>A) | |
| 6 | g.31816853A>C | CA363414935 | HSPA1A,HSPA1L | c.1097A>C (p.Asp366Ala) c.602A>C (p.Asp201Ala) c.-14+4160T>G (n.-14+4160T>G) | |
| 6 | g.31816853A>G | CA363414952 | HSPA1A,HSPA1L | c.1097A>G (p.Asp366Gly) c.602A>G (p.Asp201Gly) c.-14+4160T>C (n.-14+4160T>C) | |
| 6 | g.31816853A>T | CA363414956 | HSPA1A,HSPA1L | c.1097A>T (p.Asp366Val) c.602A>T (p.Asp201Val) c.-14+4160T>A (n.-14+4160T>A) | |
| 6 | g.31816854C>A | CA363414962 | HSPA1A,HSPA1L | c.1098C>A (p.Asp366Glu) c.603C>A (p.Asp201Glu) c.-14+4159G>T (n.-14+4159G>T) | |
| 6 | g.31816854C>G | CA363414966 | HSPA1A,HSPA1L | c.1098C>G (p.Asp366Glu) c.603C>G (p.Asp201Glu) c.-14+4159G>C (n.-14+4159G>C) | |
| 6 | g.31816854C>T | CA449806162 | HSPA1A,HSPA1L | c.1098C>T (p.Asp366=) c.603C>T (p.Asp201=) c.-14+4159G>A (n.-14+4159G>A) | |
| 6 | g.31816855G>A | CA363414968 | HSPA1A,HSPA1L | c.1099G>A (p.Glu367Lys) c.604G>A (p.Glu202Lys) c.-14+4158C>T (n.-14+4158C>T) | |
| 6 | g.31816855G>C | CA363414978 | HSPA1A,HSPA1L | c.1099G>C (p.Glu367Gln) c.604G>C (p.Glu202Gln) c.-14+4158C>G (n.-14+4158C>G) | |
| 6 | g.31816855G>T | CA363414981 | HSPA1A,HSPA1L | c.1099G>T (p.Glu367Ter) c.604G>T (p.Glu202Ter) c.-14+4158C>A (n.-14+4158C>A) | |
| 6 | g.31816857_31816858insTTAGAG | CA2678044519 | HSPA1A,HSPA1L | c.1101_1102insTTAGAG (p.Glu367_Ala368insLeuGlu) c.606_607insTTAGAG (p.Glu202_Ala203insLeuGlu) c.-14+4158_-14+4159insTAACTC (n.-14+4158_-14+4159insTAACTC) | gnomAD v4 |
| 6 | g.31816856A>C | CA363414986 | HSPA1A,HSPA1L | c.1100A>C (p.Glu367Ala) c.605A>C (p.Glu202Ala) c.-14+4157T>G (n.-14+4157T>G) | |
| 6 | g.31816856A>G | CA363414992 | HSPA1A,HSPA1L | c.1100A>G (p.Glu367Gly) c.605A>G (p.Glu202Gly) c.-14+4157T>C (n.-14+4157T>C) | gnomAD v4 |
| 6 | g.31816856A>T | CA363414988 | HSPA1A,HSPA1L | c.1100A>T (p.Glu367Val) c.605A>T (p.Glu202Val) c.-14+4157T>A (n.-14+4157T>A) | |
| 6 | g.31816857G>A | CA449806175 | HSPA1A,HSPA1L | c.1101G>A (p.Glu367=) c.606G>A (p.Glu202=) c.-14+4156C>T (n.-14+4156C>T) | |
| 6 | g.31816857G>C | CA363414997 | HSPA1A,HSPA1L | c.1101G>C (p.Glu367Asp) c.606G>C (p.Glu202Asp) c.-14+4156C>G (n.-14+4156C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.31816857G= | CA1619307542 | HSPA1A,HSPA1L | c.1101G= (p.Glu367=) c.606G= (p.Glu202=) c.-14+4156C= (n.-14+4156C=) | |
| 6 | g.31816857G>T | CA363414999 | HSPA1A,HSPA1L | c.1101G>T (p.Glu367Asp) c.606G>T (p.Glu202Asp) c.-14+4156C>A (n.-14+4156C>A) | gnomAD v4 |
| 6 | g.31816857_31816858insCCAGAA | CA2678044536 | HSPA1A,HSPA1L | c.1101_1102insCCAGAA (p.Glu367_Ala368insProGlu) c.606_607insCCAGAA (p.Glu202_Ala203insProGlu) c.-14+4155_-14+4156insTTCTGG (n.-14+4155_-14+4156insTTCTGG) | gnomAD v4 |
| 6 | g.31816858G>A | CA363415003 | HSPA1A,HSPA1L | c.1102G>A (p.Ala368Thr) c.607G>A (p.Ala203Thr) c.-14+4155C>T (n.-14+4155C>T) | |
| 6 | g.31816858G>C | CA363415004 | HSPA1A,HSPA1L | c.1102G>C (p.Ala368Pro) c.607G>C (p.Ala203Pro) c.-14+4155C>G (n.-14+4155C>G) | gnomAD v4 |
| 6 | g.31816858G>T | CA363415006 | HSPA1A,HSPA1L | c.1102G>T (p.Ala368Ser) c.607G>T (p.Ala203Ser) c.-14+4155C>A (n.-14+4155C>A) | |
| 6 | g.31816858_31816859insTATG | CA566692217 | HSPA1A,HSPA1L | c.1102_1103insTATG (p.Ala368ValfsTer?) c.607_608insTATG (p.Ala203ValfsTer?) c.-14+4155_-14+4156insATAC (n.-14+4155_-14+4156insATAC) | gnomAD v2 gnomAD v4 |
| 6 | g.31816858_31816859insAGAGTA | CA2770521537 | HSPA1A,HSPA1L | c.1102_1103insAGAGTA (p.Ala368delinsGluSerThr) c.607_608insAGAGTA (p.Ala203delinsGluSerThr) c.-14+4154_-14+4155insTACTCT (n.-14+4154_-14+4155insTACTCT) | |
| 6 | g.31816859C>A | CA363415011 | HSPA1A,HSPA1L | c.1103C>A (p.Ala368Asp) c.608C>A (p.Ala203Asp) c.-14+4154G>T (n.-14+4154G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.31816859C= | CA1619307543 | HSPA1A,HSPA1L | c.1103C= (p.Ala368=) c.608C= (p.Ala203=) c.-14+4154G= (n.-14+4154G=) | |
| 6 | g.31816859C>G | CA363415019 | HSPA1A,HSPA1L | c.1103C>G (p.Ala368Gly) c.608C>G (p.Ala203Gly) c.-14+4154G>C (n.-14+4154G>C) | gnomAD v4 |
| 6 | g.31816859C>T | CA363415015 | HSPA1A,HSPA1L | c.1103C>T (p.Ala368Val) c.608C>T (p.Ala203Val) c.-14+4154G>A (n.-14+4154G>A) | |
| 6 | g.31816859_31816860insAAGAAG | CA2770521538 | HSPA1A,HSPA1L | c.1103_1104insAAGAAG (p.Ala368_Val369insArgSer) c.608_609insAAGAAG (p.Ala203_Val204insArgSer) c.-14+4153_-14+4154insCTTCTT (n.-14+4153_-14+4154insCTTCTT) | |
| 6 | g.31816860T>A | CA449806185 | HSPA1A,HSPA1L | c.1104T>A (p.Ala368=) c.609T>A (p.Ala203=) c.-14+4153A>T (n.-14+4153A>T) | gnomAD v4 |
| 6 | g.31816860T>C | CA449806187 | HSPA1A,HSPA1L | c.1104T>C (p.Ala368=) c.609T>C (p.Ala203=) c.-14+4153A>G (n.-14+4153A>G) | |
| 6 | g.31816860T>G | CA449806190 | HSPA1A,HSPA1L | c.1104T>G (p.Ala368=) c.609T>G (p.Ala203=) c.-14+4153A>C (n.-14+4153A>C) | |
| 6 | g.31816860_31816861insCG | CA2678044547 | HSPA1A,HSPA1L | c.1104_1105insCG (p.Val369ArgfsTer13) c.609_610insCG (p.Val204ArgfsTer13) c.-14+4152_-14+4153insCG (n.-14+4152_-14+4153insCG) | gnomAD v4 |
| 6 | g.31816861G>A | CA363415023 | HSPA1A,HSPA1L | c.1105G>A (p.Val369Met) c.610G>A (p.Val204Met) c.-14+4152C>T (n.-14+4152C>T) | |
| 6 | g.31816861G>C | CA363415026 | HSPA1A,HSPA1L | c.1105G>C (p.Val369Leu) c.610G>C (p.Val204Leu) c.-14+4152C>G (n.-14+4152C>G) | |
| 6 | g.31816861G>T | CA363415029 | HSPA1A,HSPA1L | c.1105G>T (p.Val369Leu) c.610G>T (p.Val204Leu) c.-14+4152C>A (n.-14+4152C>A) | |
| 6 | g.31816862T>A | CA363415037 | HSPA1A,HSPA1L | c.1106T>A (p.Val369Glu) c.611T>A (p.Val204Glu) c.-14+4151A>T (n.-14+4151A>T) | |
| 6 | g.31816862T>C | CA363415038 | HSPA1A,HSPA1L | c.1106T>C (p.Val369Ala) c.611T>C (p.Val204Ala) c.-14+4151A>G (n.-14+4151A>G) | |
| 6 | g.31816862T>G | CA363415039 | HSPA1A,HSPA1L | c.1106T>G (p.Val369Gly) c.611T>G (p.Val204Gly) c.-14+4151A>C (n.-14+4151A>C) | |
| 6 | g.31816862_31816863insA | CA2678044552 | HSPA1A,HSPA1L | c.1106_1107insA (p.Ala370GlyfsTer?) c.611_612insA (p.Ala205GlyfsTer?) c.-14+4150_-14+4151insT (n.-14+4150_-14+4151insT) | gnomAD v4 |
| 6 | g.31816863G>A | CA449806203 | HSPA1A,HSPA1L | c.1107G>A (p.Val369=) c.612G>A (p.Val204=) c.-14+4150C>T (n.-14+4150C>T) | |
| 6 | g.31816863G>C | CA449806202 | HSPA1A,HSPA1L | c.1107G>C (p.Val369=) c.612G>C (p.Val204=) c.-14+4150C>G (n.-14+4150C>G) | |
| 6 | g.31816863G>T | CA449806201 | HSPA1A,HSPA1L | c.1107G>T (p.Val369=) c.612G>T (p.Val204=) c.-14+4150C>A (n.-14+4150C>A) | |
| 6 | g.31816863_31816864del | CA2678044554 | HSPA1A,HSPA1L | c.1107_1108del (p.Ala370LeufsTer?) c.612_613del (p.Ala205LeufsTer?) c.-14+4149_-14+4150del (n.-14+4149_-14+4150del) | gnomAD v4 |
| 6 | g.31816863_31816866delinsGGCC | CA1619307544 | HSPA1A,HSPA1L | c.1107_1110delinsGGCC (p.Val369=) c.612_615delinsGGCC (p.Val204=) c.-14+4147_-14+4150delinsGGCC (n.-14+4147_-14+4150delinsGGCC) | |
| 6 | g.31816864G>A | CA363415040 | HSPA1A,HSPA1L | c.1108G>A (p.Ala370Thr) c.613G>A (p.Ala205Thr) c.-14+4149C>T (n.-14+4149C>T) | gnomAD v4 |
| 6 | g.31816864G>C | CA363415043 | HSPA1A,HSPA1L | c.1108G>C (p.Ala370Pro) c.613G>C (p.Ala205Pro) c.-14+4149C>G (n.-14+4149C>G) | |
| 6 | g.31816864G>T | CA363415046 | HSPA1A,HSPA1L | c.1108G>T (p.Ala370Ser) c.613G>T (p.Ala205Ser) c.-14+4149C>A (n.-14+4149C>A) | |
| 6 | g.31816864_31816866del | CA566692218 | HSPA1A,HSPA1L | c.1108_1110del (p.Ala370del) c.613_615del (p.Ala205del) c.-14+4147_-14+4149del (n.-14+4147_-14+4149del) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.31816865C>A | CA363415051 | HSPA1A,HSPA1L | c.1109C>A (p.Ala370Asp) c.614C>A (p.Ala205Asp) c.-14+4148G>T (n.-14+4148G>T) | |
| 6 | g.31816865C>G | CA363415055 | HSPA1A,HSPA1L | c.1109C>G (p.Ala370Gly) c.614C>G (p.Ala205Gly) c.-14+4148G>C (n.-14+4148G>C) | |
| 6 | g.31816865C>T | CA363415057 | HSPA1A,HSPA1L | c.1109C>T (p.Ala370Val) c.614C>T (p.Ala205Val) c.-14+4148G>A (n.-14+4148G>A) | gnomAD v4 |
| 6 | g.31816865_31816866insAGTGTAGAT | CA2678044577 | HSPA1A,HSPA1L | c.1109_1110insAGTGTAGAT (p.Ala371ValfsTer2) c.614_615insAGTGTAGAT (p.Ala206ValfsTer2) c.-14+4147_-14+4148insATCTACACT (n.-14+4147_-14+4148insATCTACACT) | gnomAD v4 |
| 6 | g.31816866C>A | CA449806214 | HSPA1A,HSPA1L | c.1110C>A (p.Ala370=) c.615C>A (p.Ala205=) c.-14+4147G>T (n.-14+4147G>T) | |
| 6 | g.31816866C>G | CA449806212 | HSPA1A,HSPA1L | c.1110C>G (p.Ala370=) c.615C>G (p.Ala205=) c.-14+4147G>C (n.-14+4147G>C) | |
| 6 | g.31816866C>T | CA449806211 | HSPA1A,HSPA1L | c.1110C>T (p.Ala370=) c.615C>T (p.Ala205=) c.-14+4147G>A (n.-14+4147G>A) | |
| 6 | g.31816867T>A | CA363415069 | HSPA1A,HSPA1L | c.1111T>A (p.Tyr371Asn) c.616T>A (p.Tyr206Asn) c.-14+4146A>T (n.-14+4146A>T) | |
| 6 | g.31816867T>C | CA363415065 | HSPA1A,HSPA1L | c.1111T>C (p.Tyr371His) c.616T>C (p.Tyr206His) c.-14+4146A>G (n.-14+4146A>G) | |
| 6 | g.31816867T>G | CA363415067 | HSPA1A,HSPA1L | c.1111T>G (p.Tyr371Asp) c.616T>G (p.Tyr206Asp) c.-14+4146A>C (n.-14+4146A>C) | gnomAD v4 |
| 6 | g.31816868A>C | CA363415076 | HSPA1A,HSPA1L | c.1112A>C (p.Tyr371Ser) c.617A>C (p.Tyr206Ser) c.-14+4145T>G (n.-14+4145T>G) | gnomAD v4 |
| 6 | g.31816868A>G | CA363415079 | HSPA1A,HSPA1L | c.1112A>G (p.Tyr371Cys) c.617A>G (p.Tyr206Cys) c.-14+4145T>C (n.-14+4145T>C) | |
| 6 | g.31816868A>T | CA363415082 | HSPA1A,HSPA1L | c.1112A>T (p.Tyr371Phe) c.617A>T (p.Tyr206Phe) c.-14+4145T>A (n.-14+4145T>A) | |
| 6 | g.31816868_31816872delinsACGGG | CA1619307545 | HSPA1A,HSPA1L | c.1112_1116delinsACGGG (p.Tyr371=) c.617_621delinsACGGG (p.Tyr206=) c.-14+4141_-14+4145delinsCCCGT (n.-14+4141_-14+4145delinsCCCGT) | |
| 6 | g.31816868_31816873del | CA2678044594 | HSPA1A,HSPA1L | c.1112_1117del (p.Tyr371_Ala373delinsSer) c.617_622del (p.Tyr206_Ala208delinsSer) c.-14+4140_-14+4145del (n.-14+4140_-14+4145del) | gnomAD v4 |
| 6 | g.31816869C>A | CA363415095 | HSPA1A,HSPA1L | c.1113C>A (p.Tyr371Ter) c.618C>A (p.Tyr206Ter) c.-14+4144G>T (n.-14+4144G>T) | |
| 6 | g.31816869C>G | CA363415097 | HSPA1A,HSPA1L | c.1113C>G (p.Tyr371Ter) c.618C>G (p.Tyr206Ter) c.-14+4144G>C (n.-14+4144G>C) | gnomAD v4 |
| 6 | g.31816869C>T | CA449806234 | HSPA1A,HSPA1L | c.1113C>T (p.Tyr371=) c.618C>T (p.Tyr206=) c.-14+4144G>A (n.-14+4144G>A) | gnomAD v4 |
| 6 | g.31816869_31816872del | CA566692219 | HSPA1A,HSPA1L | c.1113_1116del (p.Tyr371Ter) c.618_621del (p.Tyr206Ter) c.-14+4141_-14+4144del (n.-14+4141_-14+4144del) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.31816870G>A | CA363415107 | HSPA1A,HSPA1L | c.1114G>A (p.Gly372Arg) c.619G>A (p.Gly207Arg) c.-14+4143C>T (n.-14+4143C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.31816870G>C | CA363415104 | HSPA1A,HSPA1L | c.1114G>C (p.Gly372Arg) c.619G>C (p.Gly207Arg) c.-14+4143C>G (n.-14+4143C>G) | |
| 6 | g.31816870G= | CA1619307546 | HSPA1A,HSPA1L | c.1114G= (p.Gly372=) c.619G= (p.Gly207=) c.-14+4143C= (n.-14+4143C=) | |
| 6 | g.31816870G>T | CA363415100 | HSPA1A,HSPA1L | c.1114G>T (p.Gly372Trp) c.619G>T (p.Gly207Trp) c.-14+4143C>A (n.-14+4143C>A) | |
| 6 | g.31816871G>A | CA363415108 | HSPA1A,HSPA1L | c.1115G>A (p.Gly372Glu) c.620G>A (p.Gly207Glu) c.-14+4142C>T (n.-14+4142C>T) | |
| 6 | g.31816871G>C | CA363415109 | HSPA1A,HSPA1L | c.1115G>C (p.Gly372Ala) c.620G>C (p.Gly207Ala) c.-14+4142C>G (n.-14+4142C>G) | |
| 6 | g.31816871G>T | CA363415112 | HSPA1A,HSPA1L | c.1115G>T (p.Gly372Val) c.620G>T (p.Gly207Val) c.-14+4142C>A (n.-14+4142C>A) | |
| 6 | g.31816872G>A | CA449806246 | HSPA1A,HSPA1L | c.1116G>A (p.Gly372=) c.621G>A (p.Gly207=) c.-14+4141C>T (n.-14+4141C>T) | |
| 6 | g.31816872G>C | CA449806248 | HSPA1A,HSPA1L | c.1116G>C (p.Gly372=) c.621G>C (p.Gly207=) c.-14+4141C>G (n.-14+4141C>G) | |
| 6 | g.31816872G>T | CA449806249 | HSPA1A,HSPA1L | c.1116G>T (p.Gly372=) c.621G>T (p.Gly207=) c.-14+4141C>A (n.-14+4141C>A) | |
| 6 | g.31816873G>A | CA363415119 | HSPA1A,HSPA1L | c.1117G>A (p.Ala373Thr) c.622G>A (p.Ala208Thr) c.-14+4140C>T (n.-14+4140C>T) | |
| 6 | g.31816873G>C | CA363415124 | HSPA1A,HSPA1L | c.1117G>C (p.Ala373Pro) c.622G>C (p.Ala208Pro) c.-14+4140C>G (n.-14+4140C>G) | |
| 6 | g.31816873G= | CA1619307547 | HSPA1A,HSPA1L | c.1117G= (p.Ala373=) c.622G= (p.Ala208=) c.-14+4140C= (n.-14+4140C=) | |
| 6 | g.31816873G>T | CA363415127 | HSPA1A,HSPA1L | c.1117G>T (p.Ala373Ser) c.622G>T (p.Ala208Ser) c.-14+4140C>A (n.-14+4140C>A) | |
| 6 | g.31816873_31816874insATCT | CA566692220 | HSPA1A,HSPA1L | c.1117_1118insATCT (p.Ala373AspfsTer?) c.622_623insATCT (p.Ala208AspfsTer?) c.-14+4139_-14+4140insAGAT (n.-14+4139_-14+4140insAGAT) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.31816874C>A | CA363415141 | HSPA1A,HSPA1L | c.1118C>A (p.Ala373Glu) c.623C>A (p.Ala208Glu) c.-14+4139G>T (n.-14+4139G>T) | |
| 6 | g.31816874C>G | CA363415132 | HSPA1A,HSPA1L | c.1118C>G (p.Ala373Gly) c.623C>G (p.Ala208Gly) c.-14+4139G>C (n.-14+4139G>C) | |
| 6 | g.31816874C>T | CA363415138 | HSPA1A,HSPA1L | c.1118C>T (p.Ala373Val) c.623C>T (p.Ala208Val) c.-14+4139G>A (n.-14+4139G>A) | gnomAD v4 |
| 6 | g.31816875G>A | CA449806257 | HSPA1A,HSPA1L | c.1119G>A (p.Ala373=) c.624G>A (p.Ala208=) c.-14+4138C>T (n.-14+4138C>T) | |
| 6 | g.31816875G>C | CA449806258 | HSPA1A,HSPA1L | c.1119G>C (p.Ala373=) c.624G>C (p.Ala208=) c.-14+4138C>G (n.-14+4138C>G) | |
| 6 | g.31816875G>T | CA449806259 | HSPA1A,HSPA1L | c.1119G>T (p.Ala373=) c.624G>T (p.Ala208=) c.-14+4138C>A (n.-14+4138C>A) | |
| 6 | g.31816876G>A | CA363415146 | HSPA1A,HSPA1L | c.1120G>A (p.Ala374Thr) c.625G>A (p.Ala209Thr) c.-14+4137C>T (n.-14+4137C>T) | |
| 6 | g.31816876G>C | CA363415156 | HSPA1A,HSPA1L | c.1120G>C (p.Ala374Pro) c.625G>C (p.Ala209Pro) c.-14+4137C>G (n.-14+4137C>G) | |
| 6 | g.31816876G>T | CA363415159 | HSPA1A,HSPA1L | c.1120G>T (p.Ala374Ser) c.625G>T (p.Ala209Ser) c.-14+4137C>A (n.-14+4137C>A) | |
| 6 | g.31816877C>A | CA363415165 | HSPA1A,HSPA1L | c.1121C>A (p.Ala374Glu) c.626C>A (p.Ala209Glu) c.-14+4136G>T (n.-14+4136G>T) | |
| 6 | g.31816877C= | CA1619307548 | HSPA1A,HSPA1L | c.1121C= (p.Ala374=) c.626C= (p.Ala209=) c.-14+4136G= (n.-14+4136G=) | |
| 6 | g.31816877C>G | CA363415167 | HSPA1A,HSPA1L | c.1121C>G (p.Ala374Gly) c.626C>G (p.Ala209Gly) c.-14+4136G>C (n.-14+4136G>C) | |
| 6 | g.31816877C>T | CA363415170 | HSPA1A,HSPA1L | c.1121C>T (p.Ala374Val) c.626C>T (p.Ala209Val) c.-14+4136G>A (n.-14+4136G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.31816878G>A | CA449806267 | HSPA1A,HSPA1L | c.1122G>A (p.Ala374=) c.627G>A (p.Ala209=) c.-14+4135C>T (n.-14+4135C>T) | gnomAD v4 |
| 6 | g.31816878G>C | CA449806269 | HSPA1A,HSPA1L | c.1122G>C (p.Ala374=) c.627G>C (p.Ala209=) c.-14+4135C>G (n.-14+4135C>G) | |
| 6 | g.31816878G>T | CA449806272 | HSPA1A,HSPA1L | c.1122G>T (p.Ala374=) c.627G>T (p.Ala209=) c.-14+4135C>A (n.-14+4135C>A) | |
| 6 | g.31816879G>A | CA363415174 | HSPA1A,HSPA1L | c.1123G>A (p.Val375Met) c.628G>A (p.Val210Met) c.-14+4134C>T (n.-14+4134C>T) | |
| 6 | g.31816879G>C | CA363415175 | HSPA1A,HSPA1L | c.1123G>C (p.Val375Leu) c.628G>C (p.Val210Leu) c.-14+4134C>G (n.-14+4134C>G) | |
| 6 | g.31816879G>T | CA363415176 | HSPA1A,HSPA1L | c.1123G>T (p.Val375Leu) c.628G>T (p.Val210Leu) c.-14+4134C>A (n.-14+4134C>A) | |
| 6 | g.31816880T>A | CA363415179 | HSPA1A,HSPA1L | c.1124T>A (p.Val375Glu) c.629T>A (p.Val210Glu) c.-14+4133A>T (n.-14+4133A>T) | |
| 6 | g.31816880T>C | CA363415191 | HSPA1A,HSPA1L | c.1124T>C (p.Val375Ala) c.629T>C (p.Val210Ala) c.-14+4133A>G (n.-14+4133A>G) | |
| 6 | g.31816880T>G | CA363415194 | HSPA1A,HSPA1L | c.1124T>G (p.Val375Gly) c.629T>G (p.Val210Gly) c.-14+4133A>C (n.-14+4133A>C) | |
| 6 | g.31816880_31816881delinsTG | CA1619307549 | HSPA1A,HSPA1L | c.1124_1125delinsTG (p.Val375=) c.629_630delinsTG (p.Val210=) c.-14+4132_-14+4133delinsCA (n.-14+4132_-14+4133delinsCA) | |
| 6 | g.31816881del | CA566692221 | HSPA1A,HSPA1L | c.1125del (p.Gln376ArgfsTer5) c.630del (p.Gln211ArgfsTer5) c.-14+4132del (n.-14+4132del) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.31816881G>A | CA449806281 | HSPA1A,HSPA1L | c.1125G>A (p.Val375=) c.630G>A (p.Val210=) c.-14+4132C>T (n.-14+4132C>T) | gnomAD v4 |
| 6 | g.31816881G>C | CA449806282 | HSPA1A,HSPA1L | c.1125G>C (p.Val375=) c.630G>C (p.Val210=) c.-14+4132C>G (n.-14+4132C>G) | |
| 6 | g.31816881G>T | CA449806285 | HSPA1A,HSPA1L | c.1125G>T (p.Val375=) c.630G>T (p.Val210=) c.-14+4132C>A (n.-14+4132C>A) | |
| 6 | g.31816882C>A | CA363415200 | HSPA1A,HSPA1L | c.1126C>A (p.Gln376Lys) c.631C>A (p.Gln211Lys) c.-14+4131G>T (n.-14+4131G>T) | |
| 6 | g.31816882C>G | CA363415208 | HSPA1A,HSPA1L | c.1126C>G (p.Gln376Glu) c.631C>G (p.Gln211Glu) c.-14+4131G>C (n.-14+4131G>C) | |
| 6 | g.31816882C>T | CA363415205 | HSPA1A,HSPA1L | c.1126C>T (p.Gln376Ter) c.631C>T (p.Gln211Ter) c.-14+4131G>A (n.-14+4131G>A) | |
| 6 | g.31816882_31816887delinsCAGGCG | CA1619307550 | HSPA1A,HSPA1L | c.1126_1131delinsCAGGCG (p.Gln376=) c.631_636delinsCAGGCG (p.Gln211=) c.-14+4126_-14+4131delinsCGCCTG (n.-14+4126_-14+4131delinsCGCCTG) | |
| 6 | g.31816883A>C | CA363415211 | HSPA1A,HSPA1L | c.1127A>C (p.Gln376Pro) c.632A>C (p.Gln211Pro) c.-14+4130T>G (n.-14+4130T>G) | |
| 6 | g.31816883A>G | CA363415216 | HSPA1A,HSPA1L | c.1127A>G (p.Gln376Arg) c.632A>G (p.Gln211Arg) c.-14+4130T>C (n.-14+4130T>C) | |
| 6 | g.31816883A>T | CA363415214 | HSPA1A,HSPA1L | c.1127A>T (p.Gln376Leu) c.632A>T (p.Gln211Leu) c.-14+4130T>A (n.-14+4130T>A) | |
| 6 | g.31816883_31816887del | CA566692222 | HSPA1A,HSPA1L | c.1127_1131del (p.Gln376ArgfsTer?) c.632_636del (p.Gln211ArgfsTer?) c.-14+4126_-14+4130del (n.-14+4126_-14+4130del) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.31816884G>A | CA449806292 | HSPA1A,HSPA1L | c.1128G>A (p.Gln376=) c.633G>A (p.Gln211=) c.-14+4129C>T (n.-14+4129C>T) | |
| 6 | g.31816884G>C | CA363415221 | HSPA1A,HSPA1L | c.1128G>C (p.Gln376His) c.633G>C (p.Gln211His) c.-14+4129C>G (n.-14+4129C>G) | |
| 6 | g.31816884G>T | CA363415223 | HSPA1A,HSPA1L | c.1128G>T (p.Gln376His) c.633G>T (p.Gln211His) c.-14+4129C>A (n.-14+4129C>A) | |
| 6 | g.31816885G>A | CA363415228 | HSPA1A,HSPA1L | c.1129G>A (p.Ala377Thr) c.634G>A (p.Ala212Thr) c.-14+4128C>T (n.-14+4128C>T) | |
| 6 | g.31816885G>C | CA363415232 | HSPA1A,HSPA1L | c.1129G>C (p.Ala377Pro) c.634G>C (p.Ala212Pro) c.-14+4128C>G (n.-14+4128C>G) | |
| 6 | g.31816885G>T | CA363415235 | HSPA1A,HSPA1L | c.1129G>T (p.Ala377Ser) c.634G>T (p.Ala212Ser) c.-14+4128C>A (n.-14+4128C>A) | |
| 6 | g.31816886C>A | CA363415240 | HSPA1A,HSPA1L | c.1130C>A (p.Ala377Glu) c.635C>A (p.Ala212Glu) c.-14+4127G>T (n.-14+4127G>T) | |
| 6 | g.31816886C>G | CA363415242 | HSPA1A,HSPA1L | c.1130C>G (p.Ala377Gly) c.635C>G (p.Ala212Gly) c.-14+4127G>C (n.-14+4127G>C) | |
| 6 | g.31816886C>T | CA363415245 | HSPA1A,HSPA1L | c.1130C>T (p.Ala377Val) c.635C>T (p.Ala212Val) c.-14+4127G>A (n.-14+4127G>A) | |
| 6 | g.31816887G>A | CA449806303 | HSPA1A,HSPA1L | c.1131G>A (p.Ala377=) c.636G>A (p.Ala212=) c.-14+4126C>T (n.-14+4126C>T) | |
| 6 | g.31816887G>C | CA449806309 | HSPA1A,HSPA1L | c.1131G>C (p.Ala377=) c.636G>C (p.Ala212=) c.-14+4126C>G (n.-14+4126C>G) | |
| 6 | g.31816887G>T | CA449806306 | HSPA1A,HSPA1L | c.1131G>T (p.Ala377=) c.636G>T (p.Ala212=) c.-14+4126C>A (n.-14+4126C>A) | |
| 6 | g.31816888G>A | CA363415250 | HSPA1A,HSPA1L | c.1132G>A (p.Ala378Thr) c.637G>A (p.Ala213Thr) c.-14+4125C>T (n.-14+4125C>T) | |
| 6 | g.31816888G>C | CA363415253 | HSPA1A,HSPA1L | c.1132G>C (p.Ala378Pro) c.637G>C (p.Ala213Pro) c.-14+4125C>G (n.-14+4125C>G) | |
| 6 | g.31816888G>T | CA363415257 | HSPA1A,HSPA1L | c.1132G>T (p.Ala378Ser) c.637G>T (p.Ala213Ser) c.-14+4125C>A (n.-14+4125C>A) | |
| 6 | g.31816889C>A | CA363415271 | HSPA1A,HSPA1L | c.1133C>A (p.Ala378Asp) c.638C>A (p.Ala213Asp) c.-14+4124G>T (n.-14+4124G>T) | |
| 6 | g.31816889C>G | CA363415266 | HSPA1A,HSPA1L | c.1133C>G (p.Ala378Gly) c.638C>G (p.Ala213Gly) c.-14+4124G>C (n.-14+4124G>C) | |
| 6 | g.31816889C>T | CA363415262 | HSPA1A,HSPA1L | c.1133C>T (p.Ala378Val) c.638C>T (p.Ala213Val) c.-14+4124G>A (n.-14+4124G>A) | |
| 6 | g.31816890C>A | CA449806315 | HSPA1A,HSPA1L | c.1134C>A (p.Ala378=) c.639C>A (p.Ala213=) c.-14+4123G>T (n.-14+4123G>T) | |
| 6 | g.31816890C= | CA1619307551 | HSPA1A,HSPA1L | c.1134C= (p.Ala378=) c.639C= (p.Ala213=) c.-14+4123G= (n.-14+4123G=) | |
| 6 | g.31816890C>G | CA449806317 | HSPA1A,HSPA1L | c.1134C>G (p.Ala378=) c.639C>G (p.Ala213=) c.-14+4123G>C (n.-14+4123G>C) | |
| 6 | g.31816890C>T | CA449806321 | HSPA1A,HSPA1L | c.1134C>T (p.Ala378=) c.639C>T (p.Ala213=) c.-14+4123G>A (n.-14+4123G>A) | |
| 6 | g.31816890_31816891insGT | CA566692223 | HSPA1A,HSPA1L | c.1134_1135insGT (p.Ile379ValfsTer3) c.639_640insGT (p.Ile214ValfsTer3) c.-14+4122_-14+4123insAC (n.-14+4122_-14+4123insAC) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.31816891A>C | CA363415275 | HSPA1A,HSPA1L | c.1135A>C (p.Ile379Leu) c.640A>C (p.Ile214Leu) c.-14+4122T>G (n.-14+4122T>G) | gnomAD v4 |
| 6 | g.31816891A>G | CA363415276 | HSPA1A,HSPA1L | c.1135A>G (p.Ile379Val) c.640A>G (p.Ile214Val) c.-14+4122T>C (n.-14+4122T>C) | gnomAD v4 |
| 6 | g.31816891A>T | CA363415277 | HSPA1A,HSPA1L | c.1135A>T (p.Ile379Phe) c.640A>T (p.Ile214Phe) c.-14+4122T>A (n.-14+4122T>A) | |
| 6 | g.31816892T>A | CA363415282 | HSPA1A,HSPA1L | c.1136T>A (p.Ile379Asn) c.641T>A (p.Ile214Asn) c.-14+4121A>T (n.-14+4121A>T) | |
| 6 | g.31816892T>C | CA363415286 | HSPA1A,HSPA1L | c.1136T>C (p.Ile379Thr) c.641T>C (p.Ile214Thr) c.-14+4121A>G (n.-14+4121A>G) | |
| 6 | g.31816892T>G | CA363415290 | HSPA1A,HSPA1L | c.1136T>G (p.Ile379Ser) c.641T>G (p.Ile214Ser) c.-14+4121A>C (n.-14+4121A>C) | |
| 6 | g.31816893C>A | CA449806327 | HSPA1A,HSPA1L | c.1137C>A (p.Ile379=) c.642C>A (p.Ile214=) c.-14+4120G>T (n.-14+4120G>T) | |
| 6 | g.31816893C>G | CA363415299 | HSPA1A,HSPA1L | c.1137C>G (p.Ile379Met) c.642C>G (p.Ile214Met) c.-14+4120G>C (n.-14+4120G>C) | |
| 6 | g.31816893C>T | CA449806329 | HSPA1A,HSPA1L | c.1137C>T (p.Ile379=) c.642C>T (p.Ile214=) c.-14+4120G>A (n.-14+4120G>A) | |
| 6 | g.31816893_31816896delinsCCTG | CA1619307552 | HSPA1A,HSPA1L | c.1137_1140delinsCCTG (p.Ile379=) c.642_645delinsCCTG (p.Ile214=) c.-14+4117_-14+4120delinsCAGG (n.-14+4117_-14+4120delinsCAGG) | |
| 6 | g.31816894C>A | CA363415303 | HSPA1A,HSPA1L | c.1138C>A (p.Leu380Met) c.643C>A (p.Leu215Met) c.-14+4119G>T (n.-14+4119G>T) | |
| 6 | g.31816894C>G | CA363415313 | HSPA1A,HSPA1L | c.1138C>G (p.Leu380Val) c.643C>G (p.Leu215Val) c.-14+4119G>C (n.-14+4119G>C) | |
| 6 | g.31816894C>T | CA449806331 | HSPA1A,HSPA1L | c.1138C>T (p.Leu380=) c.643C>T (p.Leu215=) c.-14+4119G>A (n.-14+4119G>A) | |
| 6 | g.31816894_31816896del | CA566692224 | HSPA1A,HSPA1L | c.1138_1140del (p.Leu380del) c.643_645del (p.Leu215del) c.-14+4117_-14+4119del (n.-14+4117_-14+4119del) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.31816895T>A | CA363415321 | HSPA1A,HSPA1L | c.1139T>A (p.Leu380Gln) c.644T>A (p.Leu215Gln) c.-14+4118A>T (n.-14+4118A>T) | |
| 6 | g.31816895T>C | CA363415326 | HSPA1A,HSPA1L | c.1139T>C (p.Leu380Pro) c.644T>C (p.Leu215Pro) c.-14+4118A>G (n.-14+4118A>G) | |
| 6 | g.31816895T>G | CA363415331 | HSPA1A,HSPA1L | c.1139T>G (p.Leu380Arg) c.644T>G (p.Leu215Arg) c.-14+4118A>C (n.-14+4118A>C) | |
| 6 | g.31816896G>A | CA449806334 | HSPA1A,HSPA1L | c.1140G>A (p.Leu380=) c.645G>A (p.Leu215=) c.-14+4117C>T (n.-14+4117C>T) | gnomAD v4 |
| 6 | g.31816896G>C | CA449806335 | HSPA1A,HSPA1L | c.1140G>C (p.Leu380=) c.645G>C (p.Leu215=) c.-14+4117C>G (n.-14+4117C>G) | |
| 6 | g.31816896G>T | CA449806336 | HSPA1A,HSPA1L | c.1140G>T (p.Leu380=) c.645G>T (p.Leu215=) c.-14+4117C>A (n.-14+4117C>A) | |
| 6 | g.31816897A>C | CA363415345 | HSPA1A,HSPA1L | c.1141A>C (p.Met381Leu) c.646A>C (p.Met216Leu) c.-14+4116T>G (n.-14+4116T>G) | |
| 6 | g.31816897A>G | CA363415341 | HSPA1A,HSPA1L | c.1141A>G (p.Met381Val) c.646A>G (p.Met216Val) c.-14+4116T>C (n.-14+4116T>C) | |
| 6 | g.31816897A>T | CA363415336 | HSPA1A,HSPA1L | c.1141A>T (p.Met381Leu) c.646A>T (p.Met216Leu) c.-14+4116T>A (n.-14+4116T>A) | |
| 6 | g.31816898T>A | CA363415350 | HSPA1A,HSPA1L | c.1142T>A (p.Met381Lys) c.647T>A (p.Met216Lys) c.-14+4115A>T (n.-14+4115A>T) | |
| 6 | g.31816898T>C | CA363415354 | HSPA1A,HSPA1L | c.1142T>C (p.Met381Thr) c.647T>C (p.Met216Thr) c.-14+4115A>G (n.-14+4115A>G) | gnomAD v4 |
| 6 | g.31816898T>G | CA363415360 | HSPA1A,HSPA1L | c.1142T>G (p.Met381Arg) c.647T>G (p.Met216Arg) c.-14+4115A>C (n.-14+4115A>C) | |
| 6 | g.31816898T= | CA1619307553 | HSPA1A,HSPA1L | c.1142T= (p.Met381=) c.647T= (p.Met216=) c.-14+4115A= (n.-14+4115A=) | |
| 6 | g.31816898_31816899insTAAAAA | CA566692225 | HSPA1A,HSPA1L | c.1142_1143insTAAAAA (p.Met381delinsIleLysLys) c.647_648insTAAAAA (p.Met216delinsIleLysLys) c.-14+4114_-14+4115insTTTTTA (n.-14+4114_-14+4115insTTTTTA) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.31816898_31816899insTAAAAAA | CA2678044713 | HSPA1A,HSPA1L | c.1142_1143insTAAAAAA (p.Met381IlefsTer?) c.647_648insTAAAAAA (p.Met216IlefsTer?) c.-14+4114_-14+4115insTTTTTTA (n.-14+4114_-14+4115insTTTTTTA) | gnomAD v4 |
| 6 | g.31816899G>A | CA363415365 | HSPA1A,HSPA1L | c.1143G>A (p.Met381Ile) c.648G>A (p.Met216Ile) c.-14+4114C>T (n.-14+4114C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.31816899G>C | CA363415366 | HSPA1A,HSPA1L | c.1143G>C (p.Met381Ile) c.648G>C (p.Met216Ile) c.-14+4114C>G (n.-14+4114C>G) | |
| 6 | g.31816899G= | CA1619307554 | HSPA1A,HSPA1L | c.1143G= (p.Met381=) c.648G= (p.Met216=) c.-14+4114C= (n.-14+4114C=) | |
| 6 | g.31816899G>T | CA363415370 | HSPA1A,HSPA1L | c.1143G>T (p.Met381Ile) c.648G>T (p.Met216Ile) c.-14+4114C>A (n.-14+4114C>A) | |
| 6 | g.31816899_31816903del | CA2770521539 | HSPA1A,HSPA1L | c.1143_1147del (p.Met381IlefsTer?) c.648_652del (p.Met216IlefsTer?) c.-14+4110_-14+4114del (n.-14+4110_-14+4114del) | |
| 6 | g.31816900G>A | CA363415376 | HSPA1A,HSPA1L | c.1144G>A (p.Gly382Arg) c.649G>A (p.Gly217Arg) c.-14+4113C>T (n.-14+4113C>T) | |
| 6 | g.31816900G>C | CA363415391 | HSPA1A,HSPA1L | c.1144G>C (p.Gly382Arg) c.649G>C (p.Gly217Arg) c.-14+4113C>G (n.-14+4113C>G) | |
| 6 | g.31816900G>T | CA363415393 | HSPA1A,HSPA1L | c.1144G>T (p.Gly382Trp) c.649G>T (p.Gly217Trp) c.-14+4113C>A (n.-14+4113C>A) | |
| 6 | g.31816901G>A | CA363415405 | HSPA1A,HSPA1L | c.1145G>A (p.Gly382Glu) c.650G>A (p.Gly217Glu) c.-14+4112C>T (n.-14+4112C>T) | |
| 6 | g.31816901G>C | CA363415408 | HSPA1A,HSPA1L | c.1145G>C (p.Gly382Ala) c.650G>C (p.Gly217Ala) c.-14+4112C>G (n.-14+4112C>G) | |
| 6 | g.31816901G>T | CA363415409 | HSPA1A,HSPA1L | c.1145G>T (p.Gly382Val) c.650G>T (p.Gly217Val) c.-14+4112C>A (n.-14+4112C>A) | |
| 6 | g.31816902G>A | CA449806344 | HSPA1A,HSPA1L | c.1146G>A (p.Gly382=) c.651G>A (p.Gly217=) c.-14+4111C>T (n.-14+4111C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.31816902G>C | CA449806342 | HSPA1A,HSPA1L | c.1146G>C (p.Gly382=) c.651G>C (p.Gly217=) c.-14+4111C>G (n.-14+4111C>G) | gnomAD v4 |
| 6 | g.31816902G= | CA1619307555 | HSPA1A,HSPA1L | c.1146G= (p.Gly382=) c.651G= (p.Gly217=) c.-14+4111C= (n.-14+4111C=) | |
| 6 | g.31816902G>T | CA449806343 | HSPA1A,HSPA1L | c.1146G>T (p.Gly382=) c.651G>T (p.Gly217=) c.-14+4111C>A (n.-14+4111C>A) | |
| 6 | g.31816903G>A | CA363415424 | HSPA1A,HSPA1L | c.1147G>A (p.Asp383Asn) c.652G>A (p.Asp218Asn) c.-14+4110C>T (n.-14+4110C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.31816903G>C | CA363415428 | HSPA1A,HSPA1L | c.1147G>C (p.Asp383His) c.652G>C (p.Asp218His) c.-14+4110C>G (n.-14+4110C>G) | |
| 6 | g.31816903G= | CA1619307556 | HSPA1A,HSPA1L | c.1147G= (p.Asp383=) c.652G= (p.Asp218=) c.-14+4110C= (n.-14+4110C=) | |
| 6 | g.31816903G>T | CA363415421 | HSPA1A,HSPA1L | c.1147G>T (p.Asp383Tyr) c.652G>T (p.Asp218Tyr) c.-14+4110C>A (n.-14+4110C>A) | dbSNP |
| 6 | g.31816904A>C | CA363415434 | HSPA1A,HSPA1L | c.1148A>C (p.Asp383Ala) c.653A>C (p.Asp218Ala) c.-14+4109T>G (n.-14+4109T>G) | |
| 6 | g.31816904A>G | CA363415438 | HSPA1A,HSPA1L | c.1148A>G (p.Asp383Gly) c.653A>G (p.Asp218Gly) c.-14+4109T>C (n.-14+4109T>C) | |
| 6 | g.31816904A>T | CA363415439 | HSPA1A,HSPA1L | c.1148A>T (p.Asp383Val) c.653A>T (p.Asp218Val) c.-14+4109T>A (n.-14+4109T>A) | |
| 6 | g.31816905C>A | CA363415440 | HSPA1A,HSPA1L | c.1149C>A (p.Asp383Glu) c.654C>A (p.Asp218Glu) c.-14+4108G>T (n.-14+4108G>T) | |
| 6 | g.31816905C>G | CA363415441 | HSPA1A,HSPA1L | c.1149C>G (p.Asp383Glu) c.654C>G (p.Asp218Glu) c.-14+4108G>C (n.-14+4108G>C) | |
| 6 | g.31816905C>T | CA449806352 | HSPA1A,HSPA1L | c.1149C>T (p.Asp383=) c.654C>T (p.Asp218=) c.-14+4108G>A (n.-14+4108G>A) | gnomAD v4 |
| 6 | g.31816906A>C | CA363415453 | HSPA1A,HSPA1L | c.1150A>C (p.Lys384Gln) c.655A>C (p.Lys219Gln) c.-14+4107T>G (n.-14+4107T>G) | |
| 6 | g.31816906A>G | CA363415444 | HSPA1A,HSPA1L | c.1150A>G (p.Lys384Glu) c.655A>G (p.Lys219Glu) c.-14+4107T>C (n.-14+4107T>C) | |
| 6 | g.31816906A>T | CA363415448 | HSPA1A,HSPA1L | c.1150A>T (p.Lys384Ter) c.655A>T (p.Lys219Ter) c.-14+4107T>A (n.-14+4107T>A) | |
| 6 | g.31816907A>C | CA363415454 | HSPA1A,HSPA1L | c.1151A>C (p.Lys384Thr) c.656A>C (p.Lys219Thr) c.-14+4106T>G (n.-14+4106T>G) | |
| 6 | g.31816907A>G | CA363415455 | HSPA1A,HSPA1L | c.1151A>G (p.Lys384Arg) c.656A>G (p.Lys219Arg) c.-14+4106T>C (n.-14+4106T>C) | gnomAD v4 |
| 6 | g.31816907A>T | CA363415458 | HSPA1A,HSPA1L | c.1151A>T (p.Lys384Met) c.656A>T (p.Lys219Met) c.-14+4106T>A (n.-14+4106T>A) | |
| 6 | g.31816908G>A | CA449805906 | HSPA1A,HSPA1L | c.1152G>A (p.Lys384=) c.657G>A (p.Lys219=) c.-14+4105C>T (n.-14+4105C>T) | |
| 6 | g.31816908G>C | CA363415462 | HSPA1A,HSPA1L | c.1152G>C (p.Lys384Asn) c.657G>C (p.Lys219Asn) c.-14+4105C>G (n.-14+4105C>G) | |
| 6 | g.31816908G>T | CA363415465 | HSPA1A,HSPA1L | c.1152G>T (p.Lys384Asn) c.657G>T (p.Lys219Asn) c.-14+4105C>A (n.-14+4105C>A) | |
| 6 | g.31816909T>A | CA363415476 | HSPA1A,HSPA1L | c.1153T>A (p.Ser385Thr) c.658T>A (p.Ser220Thr) c.-14+4104A>T (n.-14+4104A>T) | |
| 6 | g.31816909T>C | CA363415471 | HSPA1A,HSPA1L | c.1153T>C (p.Ser385Pro) c.658T>C (p.Ser220Pro) c.-14+4104A>G (n.-14+4104A>G) | |
| 6 | g.31816909T>G | CA363415475 | HSPA1A,HSPA1L | c.1153T>G (p.Ser385Ala) c.658T>G (p.Ser220Ala) c.-14+4104A>C (n.-14+4104A>C) | |
| 6 | g.31816910C>A | CA363415477 | HSPA1A,HSPA1L | c.1154C>A (p.Ser385Tyr) c.659C>A (p.Ser220Tyr) c.-14+4103G>T (n.-14+4103G>T) | |
| 6 | g.31816910C>G | CA363415481 | HSPA1A,HSPA1L | c.1154C>G (p.Ser385Cys) c.659C>G (p.Ser220Cys) c.-14+4103G>C (n.-14+4103G>C) | |
| 6 | g.31816910C>T | CA363415478 | HSPA1A,HSPA1L | c.1154C>T (p.Ser385Phe) c.659C>T (p.Ser220Phe) c.-14+4103G>A (n.-14+4103G>A) | |
| 6 | g.31816911C>A | CA449805917 | HSPA1A,HSPA1L | c.1155C>A (p.Ser385=) c.660C>A (p.Ser220=) c.-14+4102G>T (n.-14+4102G>T) | |
| 6 | g.31816911C>G | CA449805918 | HSPA1A,HSPA1L | c.1155C>G (p.Ser385=) c.660C>G (p.Ser220=) c.-14+4102G>C (n.-14+4102G>C) | gnomAD v4 |
| 6 | g.31816911C>T | CA449805919 | HSPA1A,HSPA1L | c.1155C>T (p.Ser385=) c.660C>T (p.Ser220=) c.-14+4102G>A (n.-14+4102G>A) | |
| 6 | g.31816912G>A | CA363415484 | HSPA1A,HSPA1L | c.1156G>A (p.Glu386Lys) c.661G>A (p.Glu221Lys) c.-14+4101C>T (n.-14+4101C>T) | |
| 6 | g.31816912G>C | CA363415486 | HSPA1A,HSPA1L | c.1156G>C (p.Glu386Gln) c.661G>C (p.Glu221Gln) c.-14+4101C>G (n.-14+4101C>G) | |
| 6 | g.31816912G>T | CA363415485 | HSPA1A,HSPA1L | c.1156G>T (p.Glu386Ter) c.661G>T (p.Glu221Ter) c.-14+4101C>A (n.-14+4101C>A) | |
| 6 | g.31816913A>C | CA363415490 | HSPA1A,HSPA1L | c.1157A>C (p.Glu386Ala) c.662A>C (p.Glu221Ala) c.-14+4100T>G (n.-14+4100T>G) | |
| 6 | g.31816913A>G | CA363415493 | HSPA1A,HSPA1L | c.1157A>G (p.Glu386Gly) c.662A>G (p.Glu221Gly) c.-14+4100T>C (n.-14+4100T>C) | |
| 6 | g.31816913A>T | CA363415504 | HSPA1A,HSPA1L | c.1157A>T (p.Glu386Val) c.662A>T (p.Glu221Val) c.-14+4100T>A (n.-14+4100T>A) | |
| 6 | g.31816914G>A | CA449805928 | HSPA1A,HSPA1L | c.1158G>A (p.Glu386=) c.663G>A (p.Glu221=) c.-14+4099C>T (n.-14+4099C>T) | |
| 6 | g.31816914G>C | CA363415508 | HSPA1A,HSPA1L | c.1158G>C (p.Glu386Asp) c.663G>C (p.Glu221Asp) c.-14+4099C>G (n.-14+4099C>G) | |
| 6 | g.31816914G>T | CA363415511 | HSPA1A,HSPA1L | c.1158G>T (p.Glu386Asp) c.663G>T (p.Glu221Asp) c.-14+4099C>A (n.-14+4099C>A) | |
| 6 | g.31816915A>C | CA363415513 | HSPA1A,HSPA1L | c.1159A>C (p.Asn387His) c.664A>C (p.Asn222His) c.-14+4098T>G (n.-14+4098T>G) | |
| 6 | g.31816915A>G | CA363415516 | HSPA1A,HSPA1L | c.1159A>G (p.Asn387Asp) c.664A>G (p.Asn222Asp) c.-14+4098T>C (n.-14+4098T>C) | |
| 6 | g.31816915A>T | CA363415520 | HSPA1A,HSPA1L | c.1159A>T (p.Asn387Tyr) c.664A>T (p.Asn222Tyr) c.-14+4098T>A (n.-14+4098T>A) | |
| 6 | g.31816916A>C | CA363415521 | HSPA1A,HSPA1L | c.1160A>C (p.Asn387Thr) c.665A>C (p.Asn222Thr) c.-14+4097T>G (n.-14+4097T>G) | gnomAD v4 |
| 6 | g.31816916A>G | CA363415522 | HSPA1A,HSPA1L | c.1160A>G (p.Asn387Ser) c.665A>G (p.Asn222Ser) c.-14+4097T>C (n.-14+4097T>C) | |
| 6 | g.31816916A>T | CA363415531 | HSPA1A,HSPA1L | c.1160A>T (p.Asn387Ile) c.665A>T (p.Asn222Ile) c.-14+4097T>A (n.-14+4097T>A) | |
| 6 | g.31816917C>A | CA363415536 | HSPA1A,HSPA1L | c.1161C>A (p.Asn387Lys) c.666C>A (p.Asn222Lys) c.-14+4096G>T (n.-14+4096G>T) | |
| 6 | g.31816917C= | CA1619307557 | HSPA1A,HSPA1L | c.1161C= (p.Asn387=) c.666C= (p.Asn222=) c.-14+4096G= (n.-14+4096G=) | |
| 6 | g.31816917C>G | CA363415535 | HSPA1A,HSPA1L | c.1161C>G (p.Asn387Lys) c.666C>G (p.Asn222Lys) c.-14+4096G>C (n.-14+4096G>C) | |
| 6 | g.31816917C>T | CA449805938 | HSPA1A,HSPA1L | c.1161C>T (p.Asn387=) c.666C>T (p.Asn222=) c.-14+4096G>A (n.-14+4096G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.31816918G>A | CA363415539 | HSPA1A,HSPA1L | c.1162G>A (p.Val388Met) c.667G>A (p.Val223Met) c.-14+4095C>T (n.-14+4095C>T) | |
| 6 | g.31816918G>C | CA363415543 | HSPA1A,HSPA1L | c.1162G>C (p.Val388Leu) c.667G>C (p.Val223Leu) c.-14+4095C>G (n.-14+4095C>G) | |
| 6 | g.31816918G>T | CA363415547 | HSPA1A,HSPA1L | c.1162G>T (p.Val388Leu) c.667G>T (p.Val223Leu) c.-14+4095C>A (n.-14+4095C>A) | |
| 6 | g.31816919T>A | CA363415555 | HSPA1A,HSPA1L | c.1163T>A (p.Val388Glu) c.668T>A (p.Val223Glu) c.-14+4094A>T (n.-14+4094A>T) | |
| 6 | g.31816919T>C | CA363415558 | HSPA1A,HSPA1L | c.1163T>C (p.Val388Ala) c.668T>C (p.Val223Ala) c.-14+4094A>G (n.-14+4094A>G) | |
| 6 | g.31816919T>G | CA363415560 | HSPA1A,HSPA1L | c.1163T>G (p.Val388Gly) c.668T>G (p.Val223Gly) c.-14+4094A>C (n.-14+4094A>C) |