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 |
|---|---|---|---|---|---|
| 11 | g.67490140C>A | CA381550906 | AIP | c.548C>A c.382C>A (p.Arg128Ser) n.1083C>A c.468+685C>A (n.468+685C>A) c.202C>A (p.Arg68Ser) c.571C>A (p.Arg191Ser) c.394C>A (p.Arg132Ser) c.391C>A (p.Arg131Ser) c.223C>A (p.Arg75Ser) | |
| 11 | g.67490140C= | CA1980172315 | AIP | c.548C= c.382C= (p.Arg128=) n.1083C= c.468+685C= (n.468+685C=) c.202C= (p.Arg68=) c.571C= (p.Arg191=) c.394C= (p.Arg132=) c.391C= (p.Arg131=) c.223C= (p.Arg75=) | |
| 11 | g.67490140C>G | CA381550905 | AIP | c.548C>G c.382C>G (p.Arg128Gly) n.1083C>G c.468+685C>G (n.468+685C>G) c.202C>G (p.Arg68Gly) c.571C>G (p.Arg191Gly) c.394C>G (p.Arg132Gly) c.391C>G (p.Arg131Gly) c.223C>G (p.Arg75Gly) | |
| 11 | g.67490140C>T | CA6140871 | AIP | c.548C>T c.382C>T (p.Arg128Cys) n.1083C>T c.468+685C>T (n.468+685C>T) c.202C>T (p.Arg68Cys) c.571C>T (p.Arg191Cys) c.394C>T (p.Arg132Cys) c.391C>T (p.Arg131Cys) c.223C>T (p.Arg75Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490141G>A | CA6140872 | AIP | c.549G>A c.383G>A (p.Arg128His) n.1084G>A c.468+686G>A (n.468+686G>A) c.203G>A (p.Arg68His) c.572G>A (p.Arg191His) c.395G>A (p.Arg132His) c.392G>A (p.Arg131His) c.224G>A (p.Arg75His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490141G>C | CA381550909 | AIP | c.549G>C c.383G>C (p.Arg128Pro) n.1084G>C c.468+686G>C (n.468+686G>C) c.203G>C (p.Arg68Pro) c.572G>C (p.Arg191Pro) c.395G>C (p.Arg132Pro) c.392G>C (p.Arg131Pro) c.224G>C (p.Arg75Pro) | |
| 11 | g.67490141G= | CA1980172316 | AIP | c.549G= c.383G= (p.Arg128=) n.1084G= c.468+686G= (n.468+686G=) c.203G= (p.Arg68=) c.572G= (p.Arg191=) c.395G= (p.Arg132=) c.392G= (p.Arg131=) c.224G= (p.Arg75=) | |
| 11 | g.67490141G>T | CA381550912 | AIP | c.549G>T c.383G>T (p.Arg128Leu) n.1084G>T c.468+686G>T (n.468+686G>T) c.203G>T (p.Arg68Leu) c.572G>T (p.Arg191Leu) c.395G>T (p.Arg132Leu) c.392G>T (p.Arg131Leu) c.224G>T (p.Arg75Leu) | ClinVar |
| 11 | g.67490142C>A | CA475509209 | AIP | c.550C>A c.384C>A (p.Arg128=) n.1085C>A c.468+687C>A (n.468+687C>A) c.204C>A (p.Arg68=) c.573C>A (p.Arg191=) c.396C>A (p.Arg132=) c.393C>A (p.Arg131=) c.225C>A (p.Arg75=) | |
| 11 | g.67490142C= | CA1980172317 | AIP | c.550C= c.384C= (p.Arg128=) n.1085C= c.468+687C= (n.468+687C=) c.204C= (p.Arg68=) c.573C= (p.Arg191=) c.396C= (p.Arg132=) c.393C= (p.Arg131=) c.225C= (p.Arg75=) | |
| 11 | g.67490142C>G | CA475509210 | AIP | c.550C>G c.384C>G (p.Arg128=) n.1085C>G c.468+687C>G (n.468+687C>G) c.204C>G (p.Arg68=) c.573C>G (p.Arg191=) c.396C>G (p.Arg132=) c.393C>G (p.Arg131=) c.225C>G (p.Arg75=) | ClinVar dbSNP |
| 11 | g.67490142C>T | CA6140873 | AIP | c.550C>T c.384C>T (p.Arg128=) n.1085C>T c.468+687C>T (n.468+687C>T) c.204C>T (p.Arg68=) c.573C>T (p.Arg191=) c.396C>T (p.Arg132=) c.393C>T (p.Arg131=) c.225C>T (p.Arg75=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.67490143G>A | CA6140874 | AIP | c.551G>A c.385G>A (p.Glu129Lys) n.1086G>A c.468+688G>A (n.468+688G>A) c.205G>A (p.Glu69Lys) c.574G>A (p.Glu192Lys) c.397G>A (p.Glu133Lys) c.394G>A (p.Glu132Lys) c.226G>A (p.Glu76Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490143G>C | CA381550917 | AIP | c.551G>C c.385G>C (p.Glu129Gln) n.1086G>C c.468+688G>C (n.468+688G>C) c.205G>C (p.Glu69Gln) c.574G>C (p.Glu192Gln) c.397G>C (p.Glu133Gln) c.394G>C (p.Glu132Gln) c.226G>C (p.Glu76Gln) | |
| 11 | g.67490143G= | CA1980172318 | AIP | c.551G= c.385G= (p.Glu129=) n.1086G= c.468+688G= (n.468+688G=) c.205G= (p.Glu69=) c.574G= (p.Glu192=) c.397G= (p.Glu133=) c.394G= (p.Glu132=) c.226G= (p.Glu76=) | |
| 11 | g.67490143G>T | CA381550920 | AIP | c.551G>T c.385G>T (p.Glu129Ter) n.1086G>T c.468+688G>T (n.468+688G>T) c.205G>T (p.Glu69Ter) c.574G>T (p.Glu192Ter) c.397G>T (p.Glu133Ter) c.394G>T (p.Glu132Ter) c.226G>T (p.Glu76Ter) | |
| 11 | g.67490144A= | CA1980172319 | AIP | c.552A= c.386A= (p.Glu129=) n.1087A= c.468+689A= (n.468+689A=) c.206A= (p.Glu69=) c.575A= (p.Glu192=) c.398A= (p.Glu133=) c.395A= (p.Glu132=) c.227A= (p.Glu76=) | |
| 11 | g.67490144A>C | CA381550923 | AIP | c.552A>C c.386A>C (p.Glu129Ala) n.1087A>C c.468+689A>C (n.468+689A>C) c.206A>C (p.Glu69Ala) c.575A>C (p.Glu192Ala) c.398A>C (p.Glu133Ala) c.395A>C (p.Glu132Ala) c.227A>C (p.Glu76Ala) | |
| 11 | g.67490144A>G | CA6140875 | AIP | c.552A>G c.386A>G (p.Glu129Gly) n.1087A>G c.468+689A>G (n.468+689A>G) c.206A>G (p.Glu69Gly) c.575A>G (p.Glu192Gly) c.398A>G (p.Glu133Gly) c.395A>G (p.Glu132Gly) c.227A>G (p.Glu76Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490144A>T | CA381550929 | AIP | c.552A>T c.386A>T (p.Glu129Val) n.1087A>T c.468+689A>T (n.468+689A>T) c.206A>T (p.Glu69Val) c.575A>T (p.Glu192Val) c.398A>T (p.Glu133Val) c.395A>T (p.Glu132Val) c.227A>T (p.Glu76Val) | |
| 11 | g.67490145G>A | CA475509213 | AIP | c.553G>A c.387G>A (p.Glu129=) n.1088G>A c.468+690G>A (n.468+690G>A) c.207G>A (p.Glu69=) c.576G>A (p.Glu192=) c.399G>A (p.Glu133=) c.396G>A (p.Glu132=) c.228G>A (p.Glu76=) | gnomAD v4 |
| 11 | g.67490145G>C | CA381550930 | AIP | c.553G>C c.387G>C (p.Glu129Asp) n.1088G>C c.468+690G>C (n.468+690G>C) c.207G>C (p.Glu69Asp) c.576G>C (p.Glu192Asp) c.399G>C (p.Glu133Asp) c.396G>C (p.Glu132Asp) c.228G>C (p.Glu76Asp) | |
| 11 | g.67490145G>T | CA381550931 | AIP | c.553G>T c.387G>T (p.Glu129Asp) n.1088G>T c.468+690G>T (n.468+690G>T) c.207G>T (p.Glu69Asp) c.576G>T (p.Glu192Asp) c.399G>T (p.Glu133Asp) c.396G>T (p.Glu132Asp) c.228G>T (p.Glu76Asp) | |
| 11 | g.67490146G>A | CA381550933 | AIP | c.554G>A c.388G>A (p.Gly130Arg) n.1089G>A c.468+691G>A (n.468+691G>A) c.208G>A (p.Gly70Arg) c.577G>A (p.Gly193Arg) c.400G>A (p.Gly134Arg) c.397G>A (p.Gly133Arg) c.229G>A (p.Gly77Arg) | |
| 11 | g.67490146G>C | CA381550934 | AIP | c.554G>C c.388G>C (p.Gly130Arg) n.1089G>C c.468+691G>C (n.468+691G>C) c.208G>C (p.Gly70Arg) c.577G>C (p.Gly193Arg) c.400G>C (p.Gly134Arg) c.397G>C (p.Gly133Arg) c.229G>C (p.Gly77Arg) | |
| 11 | g.67490146G>T | CA381550935 | AIP | c.554G>T c.388G>T (p.Gly130Trp) n.1089G>T c.468+691G>T (n.468+691G>T) c.208G>T (p.Gly70Trp) c.577G>T (p.Gly193Trp) c.400G>T (p.Gly134Trp) c.397G>T (p.Gly133Trp) c.229G>T (p.Gly77Trp) | |
| 11 | g.67490147G>A | CA381550944 | AIP | c.555G>A c.389G>A (p.Gly130Glu) n.1090G>A c.468+692G>A (n.468+692G>A) c.209G>A (p.Gly70Glu) c.578G>A (p.Gly193Glu) c.401G>A (p.Gly134Glu) c.398G>A (p.Gly133Glu) c.230G>A (p.Gly77Glu) | |
| 11 | g.67490147G>C | CA381550939 | AIP | c.555G>C c.389G>C (p.Gly130Ala) n.1090G>C c.468+692G>C (n.468+692G>C) c.209G>C (p.Gly70Ala) c.578G>C (p.Gly193Ala) c.401G>C (p.Gly134Ala) c.398G>C (p.Gly133Ala) c.230G>C (p.Gly77Ala) | |
| 11 | g.67490147G>T | CA381550942 | AIP | c.555G>T c.389G>T (p.Gly130Val) n.1090G>T c.468+692G>T (n.468+692G>T) c.209G>T (p.Gly70Val) c.578G>T (p.Gly193Val) c.401G>T (p.Gly134Val) c.398G>T (p.Gly133Val) c.230G>T (p.Gly77Val) | COSMIC |
| 11 | g.67490148G>A | CA475509216 | AIP | c.556G>A c.390G>A (p.Gly130=) n.1091G>A c.468+693G>A (n.468+693G>A) c.210G>A (p.Gly70=) c.579G>A (p.Gly193=) c.402G>A (p.Gly134=) c.399G>A (p.Gly133=) c.231G>A (p.Gly77=) | ClinVar gnomAD v4 |
| 11 | g.67490148G>C | CA475509217 | AIP | c.556G>C c.390G>C (p.Gly130=) n.1091G>C c.468+693G>C (n.468+693G>C) c.210G>C (p.Gly70=) c.579G>C (p.Gly193=) c.402G>C (p.Gly134=) c.399G>C (p.Gly133=) c.231G>C (p.Gly77=) | |
| 11 | g.67490148G= | CA1980172320 | AIP | c.556G= c.390G= (p.Gly130=) n.1091G= c.468+693G= (n.468+693G=) c.210G= (p.Gly70=) c.579G= (p.Gly193=) c.402G= (p.Gly134=) c.399G= (p.Gly133=) c.231G= (p.Gly77=) | |
| 11 | g.67490148G>T | CA475509218 | AIP | c.556G>T c.390G>T (p.Gly130=) n.1091G>T c.468+693G>T (n.468+693G>T) c.210G>T (p.Gly70=) c.579G>T (p.Gly193=) c.402G>T (p.Gly134=) c.399G>T (p.Gly133=) c.231G>T (p.Gly77=) | dbSNP |
| 11 | g.67490149C>A | CA381550948 | AIP | c.557C>A c.391C>A (p.His131Asn) n.1092C>A c.468+694C>A (n.468+694C>A) c.211C>A (p.His71Asn) c.580C>A (p.His194Asn) c.403C>A (p.His135Asn) c.400C>A (p.His134Asn) c.232C>A (p.His78Asn) | |
| 11 | g.67490149C>G | CA381550949 | AIP | c.557C>G c.391C>G (p.His131Asp) n.1092C>G c.468+694C>G (n.468+694C>G) c.211C>G (p.His71Asp) c.580C>G (p.His194Asp) c.403C>G (p.His135Asp) c.400C>G (p.His134Asp) c.232C>G (p.His78Asp) | |
| 11 | g.67490149C>T | CA381550950 | AIP | c.557C>T c.391C>T (p.His131Tyr) n.1092C>T c.468+694C>T (n.468+694C>T) c.211C>T (p.His71Tyr) c.580C>T (p.His194Tyr) c.403C>T (p.His135Tyr) c.400C>T (p.His134Tyr) c.232C>T (p.His78Tyr) | |
| 11 | g.67490150A= | CA1980172321 | AIP | c.558A= c.392A= (p.His131=) n.1093A= c.468+695A= (n.468+695A=) c.212A= (p.His71=) c.581A= (p.His194=) c.404A= (p.His135=) c.401A= (p.His134=) c.233A= (p.His78=) | |
| 11 | g.67490150A>C | CA381550951 | AIP | c.558A>C c.392A>C (p.His131Pro) n.1093A>C c.468+695A>C (n.468+695A>C) c.212A>C (p.His71Pro) c.581A>C (p.His194Pro) c.404A>C (p.His135Pro) c.401A>C (p.His134Pro) c.233A>C (p.His78Pro) | |
| 11 | g.67490150A>G | CA6140876 | AIP | c.558A>G c.392A>G (p.His131Arg) n.1093A>G c.468+695A>G (n.468+695A>G) c.212A>G (p.His71Arg) c.581A>G (p.His194Arg) c.404A>G (p.His135Arg) c.401A>G (p.His134Arg) c.233A>G (p.His78Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490150A>T | CA381550955 | AIP | c.558A>T c.392A>T (p.His131Leu) n.1093A>T c.468+695A>T (n.468+695A>T) c.212A>T (p.His71Leu) c.581A>T (p.His194Leu) c.404A>T (p.His135Leu) c.401A>T (p.His134Leu) c.233A>T (p.His78Leu) | |
| 11 | g.67490151T>A | CA381550959 | AIP | c.559T>A c.393T>A (p.His131Gln) n.1094T>A c.468+696T>A (n.468+696T>A) c.213T>A (p.His71Gln) c.582T>A (p.His194Gln) c.405T>A (p.His135Gln) c.402T>A (p.His134Gln) c.234T>A (p.His78Gln) | |
| 11 | g.67490151T>C | CA475509224 | AIP | c.559T>C c.393T>C (p.His131=) n.1094T>C c.468+696T>C (n.468+696T>C) c.213T>C (p.His71=) c.582T>C (p.His194=) c.405T>C (p.His135=) c.402T>C (p.His134=) c.234T>C (p.His78=) | ClinVar gnomAD v4 |
| 11 | g.67490151T>G | CA381550961 | AIP | c.559T>G c.393T>G (p.His131Gln) n.1094T>G c.468+696T>G (n.468+696T>G) c.213T>G (p.His71Gln) c.582T>G (p.His194Gln) c.405T>G (p.His135Gln) c.402T>G (p.His134Gln) c.234T>G (p.His78Gln) | |
| 11 | g.67490152G>A | CA381550965 | AIP | c.560G>A c.394G>A (p.Val132Met) n.1095G>A c.468+697G>A (n.468+697G>A) c.214G>A (p.Val72Met) c.583G>A (p.Val195Met) c.406G>A (p.Val136Met) c.403G>A (p.Val135Met) c.235G>A (p.Val79Met) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.67490152G>C | CA381550968 | AIP | c.560G>C c.394G>C (p.Val132Leu) n.1095G>C c.468+697G>C (n.468+697G>C) c.214G>C (p.Val72Leu) c.583G>C (p.Val195Leu) c.406G>C (p.Val136Leu) c.403G>C (p.Val135Leu) c.235G>C (p.Val79Leu) | |
| 11 | g.67490152G= | CA1980172322 | AIP | c.560G= c.394G= (p.Val132=) n.1095G= c.468+697G= (n.468+697G=) c.214G= (p.Val72=) c.583G= (p.Val195=) c.406G= (p.Val136=) c.403G= (p.Val135=) c.235G= (p.Val79=) | |
| 11 | g.67490152G>T | CA381550969 | AIP | c.560G>T c.394G>T (p.Val132Leu) n.1095G>T c.468+697G>T (n.468+697G>T) c.214G>T (p.Val72Leu) c.583G>T (p.Val195Leu) c.406G>T (p.Val136Leu) c.403G>T (p.Val135Leu) c.235G>T (p.Val79Leu) | |
| 11 | g.67490153T>A | CA381550975 | AIP | c.561T>A c.395T>A (p.Val132Glu) n.1096T>A c.468+698T>A (n.468+698T>A) c.215T>A (p.Val72Glu) c.584T>A (p.Val195Glu) c.407T>A (p.Val136Glu) c.404T>A (p.Val135Glu) c.236T>A (p.Val79Glu) | |
| 11 | g.67490153T>C | CA344130 | AIP | c.561T>C c.395T>C (p.Val132Ala) n.1096T>C c.468+698T>C (n.468+698T>C) c.215T>C (p.Val72Ala) c.584T>C (p.Val195Ala) c.407T>C (p.Val136Ala) c.404T>C (p.Val135Ala) c.236T>C (p.Val79Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490153T>G | CA381550972 | AIP | c.561T>G c.395T>G (p.Val132Gly) n.1096T>G c.468+698T>G (n.468+698T>G) c.215T>G (p.Val72Gly) c.584T>G (p.Val195Gly) c.407T>G (p.Val136Gly) c.404T>G (p.Val135Gly) c.236T>G (p.Val79Gly) | |
| 11 | g.67490153T= | CA1980172323 | AIP | c.561T= c.395T= (p.Val132=) n.1096T= c.468+698T= (n.468+698T=) c.215T= (p.Val72=) c.584T= (p.Val195=) c.407T= (p.Val136=) c.404T= (p.Val135=) c.236T= (p.Val79=) | |
| 11 | g.67490154G>A | CA475509229 | AIP | c.562G>A c.396G>A (p.Val132=) n.1097G>A c.468+699G>A (n.468+699G>A) c.216G>A (p.Val72=) c.585G>A (p.Val195=) c.408G>A (p.Val136=) c.405G>A (p.Val135=) c.237G>A (p.Val79=) | |
| 11 | g.67490154G>C | CA475509231 | AIP | c.562G>C c.396G>C (p.Val132=) n.1097G>C c.468+699G>C (n.468+699G>C) c.216G>C (p.Val72=) c.585G>C (p.Val195=) c.408G>C (p.Val136=) c.405G>C (p.Val135=) c.237G>C (p.Val79=) | |
| 11 | g.67490154G>T | CA475509233 | AIP | c.562G>T c.396G>T (p.Val132=) n.1097G>T c.468+699G>T (n.468+699G>T) c.216G>T (p.Val72=) c.585G>T (p.Val195=) c.408G>T (p.Val136=) c.405G>T (p.Val135=) c.237G>T (p.Val79=) | |
| 11 | g.67490155A>C | CA381550980 | AIP | c.563A>C c.397A>C (p.Lys133Gln) n.1098A>C c.468+700A>C (n.468+700A>C) c.217A>C (p.Lys73Gln) c.586A>C (p.Lys196Gln) c.409A>C (p.Lys137Gln) c.406A>C (p.Lys136Gln) c.238A>C (p.Lys80Gln) | |
| 11 | g.67490155A>G | CA381550982 | AIP | c.563A>G c.397A>G (p.Lys133Glu) n.1098A>G c.468+700A>G (n.468+700A>G) c.217A>G (p.Lys73Glu) c.586A>G (p.Lys196Glu) c.409A>G (p.Lys137Glu) c.406A>G (p.Lys136Glu) c.238A>G (p.Lys80Glu) | |
| 11 | g.67490155A>T | CA381550987 | AIP | c.563A>T c.397A>T (p.Lys133Ter) n.1098A>T c.468+700A>T (n.468+700A>T) c.217A>T (p.Lys73Ter) c.586A>T (p.Lys196Ter) c.409A>T (p.Lys137Ter) c.406A>T (p.Lys136Ter) c.238A>T (p.Lys80Ter) | |
| 11 | g.67490156A= | CA1980172324 | AIP | c.564A= c.398A= (p.Lys133=) n.1099A= c.468+701A= (n.468+701A=) c.218A= (p.Lys73=) c.587A= (p.Lys196=) c.410A= (p.Lys137=) c.407A= (p.Lys136=) c.239A= (p.Lys80=) | |
| 11 | g.67490156A>C | CA381550993 | AIP | c.564A>C c.398A>C (p.Lys133Thr) n.1099A>C c.468+701A>C (n.468+701A>C) c.218A>C (p.Lys73Thr) c.587A>C (p.Lys196Thr) c.410A>C (p.Lys137Thr) c.407A>C (p.Lys136Thr) c.239A>C (p.Lys80Thr) | ClinVar dbSNP |
| 11 | g.67490156A>G | CA381550996 | AIP | c.564A>G c.398A>G (p.Lys133Arg) n.1099A>G c.468+701A>G (n.468+701A>G) c.218A>G (p.Lys73Arg) c.587A>G (p.Lys196Arg) c.410A>G (p.Lys137Arg) c.407A>G (p.Lys136Arg) c.239A>G (p.Lys80Arg) | ClinVar |
| 11 | g.67490156A>T | CA381550998 | AIP | c.564A>T c.398A>T (p.Lys133Met) n.1099A>T c.468+701A>T (n.468+701A>T) c.218A>T (p.Lys73Met) c.587A>T (p.Lys196Met) c.410A>T (p.Lys137Met) c.407A>T (p.Lys136Met) c.239A>T (p.Lys80Met) | |
| 11 | g.67490157G>A | CA475509238 | AIP | c.565G>A c.399G>A (p.Lys133=) n.1100G>A c.468+702G>A (n.468+702G>A) c.219G>A (p.Lys73=) c.588G>A (p.Lys196=) c.411G>A (p.Lys137=) c.408G>A (p.Lys136=) c.240G>A (p.Lys80=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490157G>C | CA381551004 | AIP | c.565G>C c.399G>C (p.Lys133Asn) n.1100G>C c.468+702G>C (n.468+702G>C) c.219G>C (p.Lys73Asn) c.588G>C (p.Lys196Asn) c.411G>C (p.Lys137Asn) c.408G>C (p.Lys136Asn) c.240G>C (p.Lys80Asn) | |
| 11 | g.67490157G= | CA1980172325 | AIP | c.565G= c.399G= (p.Lys133=) n.1100G= c.468+702G= (n.468+702G=) c.219G= (p.Lys73=) c.588G= (p.Lys196=) c.411G= (p.Lys137=) c.408G= (p.Lys136=) c.240G= (p.Lys80=) | |
| 11 | g.67490157G>T | CA381551001 | AIP | c.565G>T c.399G>T (p.Lys133Asn) n.1100G>T c.468+702G>T (n.468+702G>T) c.219G>T (p.Lys73Asn) c.588G>T (p.Lys196Asn) c.411G>T (p.Lys137Asn) c.408G>T (p.Lys136Asn) c.240G>T (p.Lys80Asn) | |
| 11 | g.67490158G>A | CA381551008 | AIP | c.566G>A c.400G>A (p.Glu134Lys) n.1101G>A c.468+703G>A (n.468+703G>A) c.220G>A (p.Glu74Lys) c.589G>A (p.Glu197Lys) c.412G>A (p.Glu138Lys) c.409G>A (p.Glu137Lys) c.241G>A (p.Glu81Lys) | |
| 11 | g.67490158G>C | CA381551011 | AIP | c.566G>C c.400G>C (p.Glu134Gln) n.1101G>C c.468+703G>C (n.468+703G>C) c.220G>C (p.Glu74Gln) c.589G>C (p.Glu197Gln) c.412G>C (p.Glu138Gln) c.409G>C (p.Glu137Gln) c.241G>C (p.Glu81Gln) | |
| 11 | g.67490158G>T | CA381551013 | AIP | c.566G>T c.400G>T (p.Glu134Ter) n.1101G>T c.468+703G>T (n.468+703G>T) c.220G>T (p.Glu74Ter) c.589G>T (p.Glu197Ter) c.412G>T (p.Glu138Ter) c.409G>T (p.Glu137Ter) c.241G>T (p.Glu81Ter) | |
| 11 | g.67490159A>C | CA381551016 | AIP | c.567A>C c.401A>C (p.Glu134Ala) n.1102A>C c.468+704A>C (n.468+704A>C) c.221A>C (p.Glu74Ala) c.590A>C (p.Glu197Ala) c.413A>C (p.Glu138Ala) c.410A>C (p.Glu137Ala) c.242A>C (p.Glu81Ala) | |
| 11 | g.67490159A>G | CA381551017 | AIP | c.567A>G c.401A>G (p.Glu134Gly) n.1102A>G c.468+704A>G (n.468+704A>G) c.221A>G (p.Glu74Gly) c.590A>G (p.Glu197Gly) c.413A>G (p.Glu138Gly) c.410A>G (p.Glu137Gly) c.242A>G (p.Glu81Gly) | ClinVar |
| 11 | g.67490159A>T | CA381551018 | AIP | c.567A>T c.401A>T (p.Glu134Val) n.1102A>T c.468+704A>T (n.468+704A>T) c.221A>T (p.Glu74Val) c.590A>T (p.Glu197Val) c.413A>T (p.Glu138Val) c.410A>T (p.Glu137Val) c.242A>T (p.Glu81Val) | |
| 11 | g.67490160G>A | CA344134 | AIP | c.568G>A c.402G>A (p.Glu134=) n.1103G>A c.468+705G>A (n.468+705G>A) c.222G>A (p.Glu74=) c.591G>A (p.Glu197=) c.414G>A (p.Glu138=) c.411G>A (p.Glu137=) c.243G>A (p.Glu81=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490160G>C | CA381551025 | AIP | c.568G>C c.402G>C (p.Glu134Asp) n.1103G>C c.468+705G>C (n.468+705G>C) c.222G>C (p.Glu74Asp) c.591G>C (p.Glu197Asp) c.414G>C (p.Glu138Asp) c.411G>C (p.Glu137Asp) c.243G>C (p.Glu81Asp) | |
| 11 | g.67490160G= | CA1980172326 | AIP | c.568G= c.402G= (p.Glu134=) n.1103G= c.468+705G= (n.468+705G=) c.222G= (p.Glu74=) c.591G= (p.Glu197=) c.414G= (p.Glu138=) c.411G= (p.Glu137=) c.243G= (p.Glu81=) | |
| 11 | g.67490160G>T | CA381551023 | AIP | c.568G>T c.402G>T (p.Glu134Asp) n.1103G>T c.468+705G>T (n.468+705G>T) c.222G>T (p.Glu74Asp) c.591G>T (p.Glu197Asp) c.414G>T (p.Glu138Asp) c.411G>T (p.Glu137Asp) c.243G>T (p.Glu81Asp) | ClinVar dbSNP |
| 11 | g.67490161G>A | CA381551029 | AIP | c.569G>A c.403G>A (p.Ala135Thr) n.1104G>A c.468+706G>A (n.468+706G>A) c.223G>A (p.Ala75Thr) c.592G>A (p.Ala198Thr) c.415G>A (p.Ala139Thr) c.412G>A (p.Ala138Thr) c.244G>A (p.Ala82Thr) | gnomAD v4 |
| 11 | g.67490161G>C | CA381551032 | AIP | c.569G>C c.403G>C (p.Ala135Pro) n.1104G>C c.468+706G>C (n.468+706G>C) c.223G>C (p.Ala75Pro) c.592G>C (p.Ala198Pro) c.415G>C (p.Ala139Pro) c.412G>C (p.Ala138Pro) c.244G>C (p.Ala82Pro) | |
| 11 | g.67490161G>T | CA381551035 | AIP | c.569G>T c.403G>T (p.Ala135Ser) n.1104G>T c.468+706G>T (n.468+706G>T) c.223G>T (p.Ala75Ser) c.592G>T (p.Ala198Ser) c.415G>T (p.Ala139Ser) c.412G>T (p.Ala138Ser) c.244G>T (p.Ala82Ser) | |
| 11 | g.67490162C>A | CA381551040 | AIP | c.570C>A c.404C>A (p.Ala135Asp) n.1105C>A c.468+707C>A (n.468+707C>A) c.224C>A (p.Ala75Asp) c.593C>A (p.Ala198Asp) c.416C>A (p.Ala139Asp) c.413C>A (p.Ala138Asp) c.245C>A (p.Ala82Asp) | COSMIC |
| 11 | g.67490162C>G | CA381551042 | AIP | c.570C>G c.404C>G (p.Ala135Gly) n.1105C>G c.468+707C>G (n.468+707C>G) c.224C>G (p.Ala75Gly) c.593C>G (p.Ala198Gly) c.416C>G (p.Ala139Gly) c.413C>G (p.Ala138Gly) c.245C>G (p.Ala82Gly) | |
| 11 | g.67490162C>T | CA381551046 | AIP | c.570C>T c.404C>T (p.Ala135Val) n.1105C>T c.468+707C>T (n.468+707C>T) c.224C>T (p.Ala75Val) c.593C>T (p.Ala198Val) c.416C>T (p.Ala139Val) c.413C>T (p.Ala138Val) c.245C>T (p.Ala82Val) | |
| 11 | g.67490163T>A | CA475509240 | AIP | c.571T>A c.405T>A (p.Ala135=) n.1106T>A c.468+708T>A (n.468+708T>A) c.225T>A (p.Ala75=) c.594T>A (p.Ala198=) c.417T>A (p.Ala139=) c.414T>A (p.Ala138=) c.246T>A (p.Ala82=) | |
| 11 | g.67490163T>C | CA475509242 | AIP | c.571T>C c.405T>C (p.Ala135=) n.1106T>C c.468+708T>C (n.468+708T>C) c.225T>C (p.Ala75=) c.594T>C (p.Ala198=) c.417T>C (p.Ala139=) c.414T>C (p.Ala138=) c.246T>C (p.Ala82=) | |
| 11 | g.67490163T>G | CA475509243 | AIP | c.571T>G c.405T>G (p.Ala135=) n.1106T>G c.468+708T>G (n.468+708T>G) c.225T>G (p.Ala75=) c.594T>G (p.Ala198=) c.417T>G (p.Ala139=) c.414T>G (p.Ala138=) c.246T>G (p.Ala82=) | ClinVar |
| 11 | g.67490164G>A | CA381551053 | AIP | c.572G>A c.406G>A (p.Ala136Thr) n.1107G>A c.468+709G>A (n.468+709G>A) c.226G>A (p.Ala76Thr) c.595G>A (p.Ala199Thr) c.418G>A (p.Ala140Thr) c.415G>A (p.Ala139Thr) c.247G>A (p.Ala83Thr) | |
| 11 | g.67490164G>C | CA381551054 | AIP | c.572G>C c.406G>C (p.Ala136Pro) n.1107G>C c.468+709G>C (n.468+709G>C) c.226G>C (p.Ala76Pro) c.595G>C (p.Ala199Pro) c.418G>C (p.Ala140Pro) c.415G>C (p.Ala139Pro) c.247G>C (p.Ala83Pro) | ClinVar dbSNP |
| 11 | g.67490164G= | CA1980172327 | AIP | c.572G= c.406G= (p.Ala136=) n.1107G= c.468+709G= (n.468+709G=) c.226G= (p.Ala76=) c.595G= (p.Ala199=) c.418G= (p.Ala140=) c.415G= (p.Ala139=) c.247G= (p.Ala83=) | |
| 11 | g.67490164G>T | CA381551057 | AIP | c.572G>T c.406G>T (p.Ala136Ser) n.1107G>T c.468+709G>T (n.468+709G>T) c.226G>T (p.Ala76Ser) c.595G>T (p.Ala199Ser) c.418G>T (p.Ala140Ser) c.415G>T (p.Ala139Ser) c.247G>T (p.Ala83Ser) | |
| 11 | g.67490165C>A | CA381551063 | AIP | c.573C>A c.407C>A (p.Ala136Asp) n.1108C>A c.468+710C>A (n.468+710C>A) c.227C>A (p.Ala76Asp) c.596C>A (p.Ala199Asp) c.419C>A (p.Ala140Asp) c.416C>A (p.Ala139Asp) c.248C>A (p.Ala83Asp) | |
| 11 | g.67490165C>G | CA381551066 | AIP | c.573C>G c.407C>G (p.Ala136Gly) n.1108C>G c.468+710C>G (n.468+710C>G) c.227C>G (p.Ala76Gly) c.596C>G (p.Ala199Gly) c.419C>G (p.Ala140Gly) c.416C>G (p.Ala139Gly) c.248C>G (p.Ala83Gly) | |
| 11 | g.67490165C>T | CA381551068 | AIP | c.573C>T c.407C>T (p.Ala136Val) n.1108C>T c.468+710C>T (n.468+710C>T) c.227C>T (p.Ala76Val) c.596C>T (p.Ala199Val) c.419C>T (p.Ala140Val) c.416C>T (p.Ala139Val) c.248C>T (p.Ala83Val) | |
| 11 | g.67490166T>A | CA475509245 | AIP | c.574T>A c.408T>A (p.Ala136=) n.1109T>A c.468+711T>A (n.468+711T>A) c.228T>A (p.Ala76=) c.597T>A (p.Ala199=) c.420T>A (p.Ala140=) c.417T>A (p.Ala139=) c.249T>A (p.Ala83=) | |
| 11 | g.67490166T>C | CA475509246 | AIP | c.574T>C c.408T>C (p.Ala136=) n.1109T>C c.468+711T>C (n.468+711T>C) c.228T>C (p.Ala76=) c.597T>C (p.Ala199=) c.420T>C (p.Ala140=) c.417T>C (p.Ala139=) c.249T>C (p.Ala83=) | |
| 11 | g.67490166T>G | CA475509244 | AIP | c.574T>G c.408T>G (p.Ala136=) n.1109T>G c.468+711T>G (n.468+711T>G) c.228T>G (p.Ala76=) c.597T>G (p.Ala199=) c.420T>G (p.Ala140=) c.417T>G (p.Ala139=) c.249T>G (p.Ala83=) | |
| 11 | g.67490167G>A | CA381551088 | AIP | c.575G>A c.409G>A (p.Ala137Thr) n.1110G>A c.468+712G>A (n.468+712G>A) c.229G>A (p.Ala77Thr) c.598G>A (p.Ala200Thr) c.421G>A (p.Ala141Thr) c.418G>A (p.Ala140Thr) c.250G>A (p.Ala84Thr) | gnomAD v4 |
| 11 | g.67490167G>C | CA381551090 | AIP | c.575G>C c.409G>C (p.Ala137Pro) n.1110G>C c.468+712G>C (n.468+712G>C) c.229G>C (p.Ala77Pro) c.598G>C (p.Ala200Pro) c.421G>C (p.Ala141Pro) c.418G>C (p.Ala140Pro) c.250G>C (p.Ala84Pro) | |
| 11 | g.67490167G>T | CA381551082 | AIP | c.575G>T c.409G>T (p.Ala137Ser) n.1110G>T c.468+712G>T (n.468+712G>T) c.229G>T (p.Ala77Ser) c.598G>T (p.Ala200Ser) c.421G>T (p.Ala141Ser) c.418G>T (p.Ala140Ser) c.250G>T (p.Ala84Ser) | |
| 11 | g.67490168C>A | CA381551093 | AIP | c.576C>A c.410C>A (p.Ala137Asp) n.1111C>A c.468+713C>A (n.468+713C>A) c.230C>A (p.Ala77Asp) c.599C>A (p.Ala200Asp) c.422C>A (p.Ala141Asp) c.419C>A (p.Ala140Asp) c.251C>A (p.Ala84Asp) | |
| 11 | g.67490168C= | CA1980172328 | AIP | c.576C= c.410C= (p.Ala137=) n.1111C= c.468+713C= (n.468+713C=) c.230C= (p.Ala77=) c.599C= (p.Ala200=) c.422C= (p.Ala141=) c.419C= (p.Ala140=) c.251C= (p.Ala84=) | |
| 11 | g.67490168C>G | CA381551099 | AIP | c.576C>G c.410C>G (p.Ala137Gly) n.1111C>G c.468+713C>G (n.468+713C>G) c.230C>G (p.Ala77Gly) c.599C>G (p.Ala200Gly) c.422C>G (p.Ala141Gly) c.419C>G (p.Ala140Gly) c.251C>G (p.Ala84Gly) | |
| 11 | g.67490168C>T | CA381551096 | AIP | c.576C>T c.410C>T (p.Ala137Val) n.1111C>T c.468+713C>T (n.468+713C>T) c.230C>T (p.Ala77Val) c.599C>T (p.Ala200Val) c.422C>T (p.Ala141Val) c.419C>T (p.Ala140Val) c.251C>T (p.Ala84Val) | dbSNP gnomAD v2 |
| 11 | g.67490169del | CA2499221230 | AIP | c.577del c.411del (p.Lys138SerfsTer14) n.1112del c.468+714del (n.468+714del) c.231del (p.Lys78SerfsTer14) c.600del (p.Lys201SerfsTer14) c.423del (p.Lys142SerfsTer14) c.420del (p.Lys141SerfsTer14) c.252del (p.Lys85SerfsTer14) | ClinVar dbSNP |
| 11 | g.67490169C>A | CA475509255 | AIP | c.577C>A c.411C>A (p.Ala137=) n.1112C>A c.468+714C>A (n.468+714C>A) c.231C>A (p.Ala77=) c.600C>A (p.Ala200=) c.423C>A (p.Ala141=) c.420C>A (p.Ala140=) c.252C>A (p.Ala84=) | |
| 11 | g.67490169C>G | CA475509254 | AIP | c.577C>G c.411C>G (p.Ala137=) n.1112C>G c.468+714C>G (n.468+714C>G) c.231C>G (p.Ala77=) c.600C>G (p.Ala200=) c.423C>G (p.Ala141=) c.420C>G (p.Ala140=) c.252C>G (p.Ala84=) | |
| 11 | g.67490169C>T | CA475509253 | AIP | c.577C>T c.411C>T (p.Ala137=) n.1112C>T c.468+714C>T (n.468+714C>T) c.231C>T (p.Ala77=) c.600C>T (p.Ala200=) c.423C>T (p.Ala141=) c.420C>T (p.Ala140=) c.252C>T (p.Ala84=) | gnomAD v4 |
| 11 | g.67490170A= | CA1980172329 | AIP | c.578A= c.412A= (p.Lys138=) n.1113A= c.468+715A= (n.468+715A=) c.232A= (p.Lys78=) c.601A= (p.Lys201=) c.424A= (p.Lys142=) c.421A= (p.Lys141=) c.253A= (p.Lys85=) | |
| 11 | g.67490170A>C | CA381551102 | AIP | c.578A>C c.412A>C (p.Lys138Gln) n.1113A>C c.468+715A>C (n.468+715A>C) c.232A>C (p.Lys78Gln) c.601A>C (p.Lys201Gln) c.424A>C (p.Lys142Gln) c.421A>C (p.Lys141Gln) c.253A>C (p.Lys85Gln) | ClinVar |
| 11 | g.67490170A>G | CA381551104 | AIP | c.578A>G c.412A>G (p.Lys138Glu) n.1113A>G c.468+715A>G (n.468+715A>G) c.232A>G (p.Lys78Glu) c.601A>G (p.Lys201Glu) c.424A>G (p.Lys142Glu) c.421A>G (p.Lys141Glu) c.253A>G (p.Lys85Glu) | |
| 11 | g.67490170A>T | CA344138 | AIP | c.578A>T c.412A>T (p.Lys138Ter) n.1113A>T c.468+715A>T (n.468+715A>T) c.232A>T (p.Lys78Ter) c.601A>T (p.Lys201Ter) c.424A>T (p.Lys142Ter) c.421A>T (p.Lys141Ter) c.253A>T (p.Lys85Ter) | ClinVar dbSNP |
| 11 | g.67490170_67490171insTTTTG | CA2614623311 | AIP | c.578_579insTTTTG c.412_413insTTTTG (p.Lys138IlefsTer16) n.1113_1114insTTTTG c.468+715_468+716insTTTTG (n.468+715_468+716insTTTTG) c.232_233insTTTTG (p.Lys78IlefsTer16) c.601_602insTTTTG (p.Lys201IlefsTer16) c.424_425insTTTTG (p.Lys142IlefsTer16) c.421_422insTTTTG (p.Lys141IlefsTer16) c.253_254insTTTTG (p.Lys85IlefsTer16) | gnomAD v4 |
| 11 | g.67490171A= | CA1980172330 | AIP | c.579A= c.413A= (p.Lys138=) n.1114A= c.468+716A= (n.468+716A=) c.233A= (p.Lys78=) c.602A= (p.Lys201=) c.425A= (p.Lys142=) c.422A= (p.Lys141=) c.254A= (p.Lys85=) | |
| 11 | g.67490171A>C | CA381551108 | AIP | c.579A>C c.413A>C (p.Lys138Thr) n.1114A>C c.468+716A>C (n.468+716A>C) c.233A>C (p.Lys78Thr) c.602A>C (p.Lys201Thr) c.425A>C (p.Lys142Thr) c.422A>C (p.Lys141Thr) c.254A>C (p.Lys85Thr) | |
| 11 | g.67490171A>G | CA381551112 | AIP | c.579A>G c.413A>G (p.Lys138Arg) n.1114A>G c.468+716A>G (n.468+716A>G) c.233A>G (p.Lys78Arg) c.602A>G (p.Lys201Arg) c.425A>G (p.Lys142Arg) c.422A>G (p.Lys141Arg) c.254A>G (p.Lys85Arg) | ClinVar dbSNP |
| 11 | g.67490171A>T | CA381551115 | AIP | c.579A>T c.413A>T (p.Lys138Met) n.1114A>T c.468+716A>T (n.468+716A>T) c.233A>T (p.Lys78Met) c.602A>T (p.Lys201Met) c.425A>T (p.Lys142Met) c.422A>T (p.Lys141Met) c.254A>T (p.Lys85Met) | |
| 11 | g.67490172G>A | CA475509261 | AIP | c.580G>A c.414G>A (p.Lys138=) n.1115G>A c.468+717G>A (n.468+717G>A) c.234G>A (p.Lys78=) c.603G>A (p.Lys201=) c.426G>A (p.Lys142=) c.423G>A (p.Lys141=) c.255G>A (p.Lys85=) | |
| 11 | g.67490172G>C | CA381551119 | AIP | c.580G>C c.414G>C (p.Lys138Asn) n.1115G>C c.468+717G>C (n.468+717G>C) c.234G>C (p.Lys78Asn) c.603G>C (p.Lys201Asn) c.426G>C (p.Lys142Asn) c.423G>C (p.Lys141Asn) c.255G>C (p.Lys85Asn) | |
| 11 | g.67490172G>T | CA381551121 | AIP | c.580G>T c.414G>T (p.Lys138Asn) n.1115G>T c.468+717G>T (n.468+717G>T) c.234G>T (p.Lys78Asn) c.603G>T (p.Lys201Asn) c.426G>T (p.Lys142Asn) c.423G>T (p.Lys141Asn) c.255G>T (p.Lys85Asn) | |
| 11 | g.67490173T>A | CA381551125 | AIP | c.581T>A c.415T>A (p.Tyr139Asn) n.1116T>A c.468+718T>A (n.468+718T>A) c.235T>A (p.Tyr79Asn) c.604T>A (p.Tyr202Asn) c.427T>A (p.Tyr143Asn) c.424T>A (p.Tyr142Asn) c.256T>A (p.Tyr86Asn) | |
| 11 | g.67490173T>C | CA381551127 | AIP | c.581T>C c.415T>C (p.Tyr139His) n.1116T>C c.468+718T>C (n.468+718T>C) c.235T>C (p.Tyr79His) c.604T>C (p.Tyr202His) c.427T>C (p.Tyr143His) c.424T>C (p.Tyr142His) c.256T>C (p.Tyr86His) | |
| 11 | g.67490173T>G | CA381551130 | AIP | c.581T>G c.415T>G (p.Tyr139Asp) n.1116T>G c.468+718T>G (n.468+718T>G) c.235T>G (p.Tyr79Asp) c.604T>G (p.Tyr202Asp) c.427T>G (p.Tyr143Asp) c.424T>G (p.Tyr142Asp) c.256T>G (p.Tyr86Asp) | |
| 11 | g.67490174A>C | CA381551133 | AIP | c.582A>C c.416A>C (p.Tyr139Ser) n.1117A>C c.468+719A>C (n.468+719A>C) c.236A>C (p.Tyr79Ser) c.605A>C (p.Tyr202Ser) c.428A>C (p.Tyr143Ser) c.425A>C (p.Tyr142Ser) c.257A>C (p.Tyr86Ser) | |
| 11 | g.67490174A>G | CA381551131 | AIP | c.582A>G c.416A>G (p.Tyr139Cys) n.1117A>G c.468+719A>G (n.468+719A>G) c.236A>G (p.Tyr79Cys) c.605A>G (p.Tyr202Cys) c.428A>G (p.Tyr143Cys) c.425A>G (p.Tyr142Cys) c.257A>G (p.Tyr86Cys) | gnomAD v4 |
| 11 | g.67490174A>T | CA381551132 | AIP | c.582A>T c.416A>T (p.Tyr139Phe) n.1117A>T c.468+719A>T (n.468+719A>T) c.236A>T (p.Tyr79Phe) c.605A>T (p.Tyr202Phe) c.428A>T (p.Tyr143Phe) c.425A>T (p.Tyr142Phe) c.257A>T (p.Tyr86Phe) | |
| 11 | g.67490174_67490178del | CA2614623321 | AIP | c.582_586del c.416_420del (p.Tyr139Ter) n.1117_1121del c.468+719_468+723del (n.468+719_468+723del) c.236_240del (p.Tyr79Ter) c.605_609del (p.Tyr202Ter) c.428_432del (p.Tyr143Ter) c.425_429del (p.Tyr142Ter) c.257_261del (p.Tyr86Ter) | gnomAD v4 |
| 11 | g.67490175C>A | CA381551135 | AIP | c.583C>A c.417C>A (p.Tyr139Ter) n.1118C>A c.468+720C>A (n.468+720C>A) c.237C>A (p.Tyr79Ter) c.606C>A (p.Tyr202Ter) c.429C>A (p.Tyr143Ter) c.426C>A (p.Tyr142Ter) c.258C>A (p.Tyr86Ter) | |
| 11 | g.67490175C>G | CA381551136 | AIP | c.583C>G c.417C>G (p.Tyr139Ter) n.1118C>G c.468+720C>G (n.468+720C>G) c.237C>G (p.Tyr79Ter) c.606C>G (p.Tyr202Ter) c.429C>G (p.Tyr143Ter) c.426C>G (p.Tyr142Ter) c.258C>G (p.Tyr86Ter) | ClinVar gnomAD v4 |
| 11 | g.67490175C>T | CA475509265 | AIP | c.583C>T c.417C>T (p.Tyr139=) n.1118C>T c.468+720C>T (n.468+720C>T) c.237C>T (p.Tyr79=) c.606C>T (p.Tyr202=) c.429C>T (p.Tyr143=) c.426C>T (p.Tyr142=) c.258C>T (p.Tyr86=) | ClinVar |
| 11 | g.67490176T>A | CA381551140 | AIP | c.584T>A c.418T>A (p.Tyr140Asn) n.1119T>A c.468+721T>A (n.468+721T>A) c.238T>A (p.Tyr80Asn) c.607T>A (p.Tyr203Asn) c.430T>A (p.Tyr144Asn) c.427T>A (p.Tyr143Asn) c.259T>A (p.Tyr87Asn) | |
| 11 | g.67490176T>C | CA381551141 | AIP | c.584T>C c.418T>C (p.Tyr140His) n.1119T>C c.468+721T>C (n.468+721T>C) c.238T>C (p.Tyr80His) c.607T>C (p.Tyr203His) c.430T>C (p.Tyr144His) c.427T>C (p.Tyr143His) c.259T>C (p.Tyr87His) | ClinVar |
| 11 | g.67490176T>G | CA381551142 | AIP | c.584T>G c.418T>G (p.Tyr140Asp) n.1119T>G c.468+721T>G (n.468+721T>G) c.238T>G (p.Tyr80Asp) c.607T>G (p.Tyr203Asp) c.430T>G (p.Tyr144Asp) c.427T>G (p.Tyr143Asp) c.259T>G (p.Tyr87Asp) | ClinVar dbSNP |
| 11 | g.67490176_67490177dup | CA2580610711 | AIP | c.584_585dup c.418_419dup (p.Asp141ThrfsTer12) n.1119_1120dup c.468+721_468+722dup (n.468+721_468+722dup) c.238_239dup (p.Asp81ThrfsTer12) c.607_608dup (p.Asp204ThrfsTer12) c.430_431dup (p.Asp145ThrfsTer12) c.427_428dup (p.Asp144ThrfsTer12) c.259_260dup (p.Asp88ThrfsTer12) | |
| 11 | g.67490177A= | CA1980172331 | AIP | c.585A= c.419A= (p.Tyr140=) n.1120A= c.468+722A= (n.468+722A=) c.239A= (p.Tyr80=) c.608A= (p.Tyr203=) c.431A= (p.Tyr144=) c.428A= (p.Tyr143=) c.260A= (p.Tyr87=) | |
| 11 | g.67490177A>C | CA381551143 | AIP | c.585A>C c.419A>C (p.Tyr140Ser) n.1120A>C c.468+722A>C (n.468+722A>C) c.239A>C (p.Tyr80Ser) c.608A>C (p.Tyr203Ser) c.431A>C (p.Tyr144Ser) c.428A>C (p.Tyr143Ser) c.260A>C (p.Tyr87Ser) | |
| 11 | g.67490177A>G | CA6140877 | AIP | c.585A>G c.419A>G (p.Tyr140Cys) n.1120A>G c.468+722A>G (n.468+722A>G) c.239A>G (p.Tyr80Cys) c.608A>G (p.Tyr203Cys) c.431A>G (p.Tyr144Cys) c.428A>G (p.Tyr143Cys) c.260A>G (p.Tyr87Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.67490177A>T | CA381551145 | AIP | c.585A>T c.419A>T (p.Tyr140Phe) n.1120A>T c.468+722A>T (n.468+722A>T) c.239A>T (p.Tyr80Phe) c.608A>T (p.Tyr203Phe) c.431A>T (p.Tyr144Phe) c.428A>T (p.Tyr143Phe) c.260A>T (p.Tyr87Phe) | |
| 11 | g.67490178C>A | CA381551150 | AIP | c.586C>A c.420C>A (p.Tyr140Ter) n.1121C>A c.468+723C>A (n.468+723C>A) c.240C>A (p.Tyr80Ter) c.609C>A (p.Tyr203Ter) c.432C>A (p.Tyr144Ter) c.429C>A (p.Tyr143Ter) c.261C>A (p.Tyr87Ter) | |
| 11 | g.67490178C= | CA1980172332 | AIP | c.586C= c.420C= (p.Tyr140=) n.1121C= c.468+723C= (n.468+723C=) c.240C= (p.Tyr80=) c.609C= (p.Tyr203=) c.432C= (p.Tyr144=) c.429C= (p.Tyr143=) c.261C= (p.Tyr87=) | |
| 11 | g.67490178C>G | CA381551151 | AIP | c.586C>G c.420C>G (p.Tyr140Ter) n.1121C>G c.468+723C>G (n.468+723C>G) c.240C>G (p.Tyr80Ter) c.609C>G (p.Tyr203Ter) c.432C>G (p.Tyr144Ter) c.429C>G (p.Tyr143Ter) c.261C>G (p.Tyr87Ter) | |
| 11 | g.67490178C>T | CA6140878 | AIP | c.586C>T c.420C>T (p.Tyr140=) n.1121C>T c.468+723C>T (n.468+723C>T) c.240C>T (p.Tyr80=) c.609C>T (p.Tyr203=) c.432C>T (p.Tyr144=) c.429C>T (p.Tyr143=) c.261C>T (p.Tyr87=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490179G>A | CA6140879 | AIP | c.587G>A c.421G>A (p.Asp141Asn) n.1122G>A c.468+724G>A (n.468+724G>A) c.241G>A (p.Asp81Asn) c.610G>A (p.Asp204Asn) c.433G>A (p.Asp145Asn) c.430G>A (p.Asp144Asn) c.262G>A (p.Asp88Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.67490179G>C | CA381551162 | AIP | c.587G>C c.421G>C (p.Asp141His) n.1122G>C c.468+724G>C (n.468+724G>C) c.241G>C (p.Asp81His) c.610G>C (p.Asp204His) c.433G>C (p.Asp145His) c.430G>C (p.Asp144His) c.262G>C (p.Asp88His) | ClinVar |
| 11 | g.67490179G= | CA1980172333 | AIP | c.587G= c.421G= (p.Asp141=) n.1122G= c.468+724G= (n.468+724G=) c.241G= (p.Asp81=) c.610G= (p.Asp204=) c.433G= (p.Asp145=) c.430G= (p.Asp144=) c.262G= (p.Asp88=) | |
| 11 | g.67490179G>T | CA381551159 | AIP | c.587G>T c.421G>T (p.Asp141Tyr) n.1122G>T c.468+724G>T (n.468+724G>T) c.241G>T (p.Asp81Tyr) c.610G>T (p.Asp204Tyr) c.433G>T (p.Asp145Tyr) c.430G>T (p.Asp144Tyr) c.262G>T (p.Asp88Tyr) | |
| 11 | g.67490180A= | CA1980172334 | AIP | c.588A= c.422A= (p.Asp141=) n.1123A= c.468+725A= (n.468+725A=) c.242A= (p.Asp81=) c.611A= (p.Asp204=) c.434A= (p.Asp145=) c.431A= (p.Asp144=) c.263A= (p.Asp88=) | |
| 11 | g.67490180A>C | CA381551170 | AIP | c.588A>C c.422A>C (p.Asp141Ala) n.1123A>C c.468+725A>C (n.468+725A>C) c.242A>C (p.Asp81Ala) c.611A>C (p.Asp204Ala) c.434A>C (p.Asp145Ala) c.431A>C (p.Asp144Ala) c.263A>C (p.Asp88Ala) | |
| 11 | g.67490180A>G | CA381551167 | AIP | c.588A>G c.422A>G (p.Asp141Gly) n.1123A>G c.468+725A>G (n.468+725A>G) c.242A>G (p.Asp81Gly) c.611A>G (p.Asp204Gly) c.434A>G (p.Asp145Gly) c.431A>G (p.Asp144Gly) c.263A>G (p.Asp88Gly) | ClinVar dbSNP |
| 11 | g.67490180A>T | CA381551169 | AIP | c.588A>T c.422A>T (p.Asp141Val) n.1123A>T c.468+725A>T (n.468+725A>T) c.242A>T (p.Asp81Val) c.611A>T (p.Asp204Val) c.434A>T (p.Asp145Val) c.431A>T (p.Asp144Val) c.263A>T (p.Asp88Val) | |
| 11 | g.67490181T>A | CA381551174 | AIP | c.589T>A c.423T>A (p.Asp141Glu) n.1124T>A c.468+726T>A (n.468+726T>A) c.243T>A (p.Asp81Glu) c.612T>A (p.Asp204Glu) c.435T>A (p.Asp145Glu) c.432T>A (p.Asp144Glu) c.264T>A (p.Asp88Glu) | |
| 11 | g.67490181T>C | CA224165076 | AIP | c.589T>C c.423T>C (p.Asp141=) n.1124T>C c.468+726T>C (n.468+726T>C) c.243T>C (p.Asp81=) c.612T>C (p.Asp204=) c.435T>C (p.Asp145=) c.432T>C (p.Asp144=) c.264T>C (p.Asp88=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.67490181T>G | CA381551180 | AIP | c.589T>G c.423T>G (p.Asp141Glu) n.1124T>G c.468+726T>G (n.468+726T>G) c.243T>G (p.Asp81Glu) c.612T>G (p.Asp204Glu) c.435T>G (p.Asp145Glu) c.432T>G (p.Asp144Glu) c.264T>G (p.Asp88Glu) | |
| 11 | g.67490181T= | CA1980172335 | AIP | c.589T= c.423T= (p.Asp141=) n.1124T= c.468+726T= (n.468+726T=) c.243T= (p.Asp81=) c.612T= (p.Asp204=) c.435T= (p.Asp145=) c.432T= (p.Asp144=) c.264T= (p.Asp88=) | |
| 11 | g.67490181_67490195del | CA2614623341 | AIP | c.589_603del c.423_437del (p.Ala142_Leu146del) n.1124_1138del c.468+726_468+740del (n.468+726_468+740del) c.243_257del (p.Ala82_Leu86del) c.612_626del (p.Ala205_Leu209del) c.435_449del (p.Ala146_Leu150del) c.432_446del (p.Ala145_Leu149del) c.264_278del (p.Ala89_Leu93del) | gnomAD v4 |
| 11 | g.67490182G>A | CA381551185 | AIP | c.590G>A c.424G>A (p.Ala142Thr) n.1125G>A c.468+727G>A (n.468+727G>A) c.244G>A (p.Ala82Thr) c.613G>A (p.Ala205Thr) c.436G>A (p.Ala146Thr) c.433G>A (p.Ala145Thr) c.265G>A (p.Ala89Thr) | |
| 11 | g.67490182G>C | CA381551188 | AIP | c.590G>C c.424G>C (p.Ala142Pro) n.1125G>C c.468+727G>C (n.468+727G>C) c.244G>C (p.Ala82Pro) c.613G>C (p.Ala205Pro) c.436G>C (p.Ala146Pro) c.433G>C (p.Ala145Pro) c.265G>C (p.Ala89Pro) | |
| 11 | g.67490182G>T | CA381551189 | AIP | c.590G>T c.424G>T (p.Ala142Ser) n.1125G>T c.468+727G>T (n.468+727G>T) c.244G>T (p.Ala82Ser) c.613G>T (p.Ala205Ser) c.436G>T (p.Ala146Ser) c.433G>T (p.Ala145Ser) c.265G>T (p.Ala89Ser) | |
| 11 | g.67490183C>A | CA381551190 | AIP | c.591C>A c.425C>A (p.Ala142Asp) n.1126C>A c.468+728C>A (n.468+728C>A) c.245C>A (p.Ala82Asp) c.614C>A (p.Ala205Asp) c.437C>A (p.Ala146Asp) c.434C>A (p.Ala145Asp) c.266C>A (p.Ala89Asp) | |
| 11 | g.67490183C>G | CA381551192 | AIP | c.591C>G c.425C>G (p.Ala142Gly) n.1126C>G c.468+728C>G (n.468+728C>G) c.245C>G (p.Ala82Gly) c.614C>G (p.Ala205Gly) c.437C>G (p.Ala146Gly) c.434C>G (p.Ala145Gly) c.266C>G (p.Ala89Gly) | ClinVar |
| 11 | g.67490183C>T | CA381551195 | AIP | c.591C>T c.425C>T (p.Ala142Val) n.1126C>T c.468+728C>T (n.468+728C>T) c.245C>T (p.Ala82Val) c.614C>T (p.Ala205Val) c.437C>T (p.Ala146Val) c.434C>T (p.Ala145Val) c.266C>T (p.Ala89Val) | COSMIC |
| 11 | g.67490184C>A | CA475509270 | AIP | c.592C>A c.426C>A (p.Ala142=) n.1127C>A c.468+729C>A (n.468+729C>A) c.246C>A (p.Ala82=) c.615C>A (p.Ala205=) c.438C>A (p.Ala146=) c.435C>A (p.Ala145=) c.267C>A (p.Ala89=) | |
| 11 | g.67490184C= | CA1980172336 | AIP | c.592C= c.426C= (p.Ala142=) n.1127C= c.468+729C= (n.468+729C=) c.246C= (p.Ala82=) c.615C= (p.Ala205=) c.438C= (p.Ala146=) c.435C= (p.Ala145=) c.267C= (p.Ala89=) | |
| 11 | g.67490184C>G | CA6140880 | AIP | c.592C>G c.426C>G (p.Ala142=) n.1127C>G c.468+729C>G (n.468+729C>G) c.246C>G (p.Ala82=) c.615C>G (p.Ala205=) c.438C>G (p.Ala146=) c.435C>G (p.Ala145=) c.267C>G (p.Ala89=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490184C>T | CA475509272 | AIP | c.592C>T c.426C>T (p.Ala142=) n.1127C>T c.468+729C>T (n.468+729C>T) c.246C>T (p.Ala82=) c.615C>T (p.Ala205=) c.438C>T (p.Ala146=) c.435C>T (p.Ala145=) c.267C>T (p.Ala89=) | ClinVar |
| 11 | g.67490185A= | CA1980172337 | AIP | c.593A= c.427A= (p.Ile143=) n.1128A= c.468+730A= (n.468+730A=) c.247A= (p.Ile83=) c.616A= (p.Ile206=) c.439A= (p.Ile147=) c.436A= (p.Ile146=) c.268A= (p.Ile90=) | |
| 11 | g.67490185A>C | CA381551204 | AIP | c.593A>C c.427A>C (p.Ile143Leu) n.1128A>C c.468+730A>C (n.468+730A>C) c.247A>C (p.Ile83Leu) c.616A>C (p.Ile206Leu) c.439A>C (p.Ile147Leu) c.436A>C (p.Ile146Leu) c.268A>C (p.Ile90Leu) | |
| 11 | g.67490185A>G | CA381551200 | AIP | c.593A>G c.427A>G (p.Ile143Val) n.1128A>G c.468+730A>G (n.468+730A>G) c.247A>G (p.Ile83Val) c.616A>G (p.Ile206Val) c.439A>G (p.Ile147Val) c.436A>G (p.Ile146Val) c.268A>G (p.Ile90Val) | dbSNP |
| 11 | g.67490185A>T | CA381551198 | AIP | c.593A>T c.427A>T (p.Ile143Phe) n.1128A>T c.468+730A>T (n.468+730A>T) c.247A>T (p.Ile83Phe) c.616A>T (p.Ile206Phe) c.439A>T (p.Ile147Phe) c.436A>T (p.Ile146Phe) c.268A>T (p.Ile90Phe) | |
| 11 | g.67490186T>A | CA381551211 | AIP | c.594T>A c.428T>A (p.Ile143Asn) n.1129T>A c.468+731T>A (n.468+731T>A) c.248T>A (p.Ile83Asn) c.617T>A (p.Ile206Asn) c.440T>A (p.Ile147Asn) c.437T>A (p.Ile146Asn) c.269T>A (p.Ile90Asn) | |
| 11 | g.67490186T>C | CA381551215 | AIP | c.594T>C c.428T>C (p.Ile143Thr) n.1129T>C c.468+731T>C (n.468+731T>C) c.248T>C (p.Ile83Thr) c.617T>C (p.Ile206Thr) c.440T>C (p.Ile147Thr) c.437T>C (p.Ile146Thr) c.269T>C (p.Ile90Thr) | ClinVar |
| 11 | g.67490186T>G | CA381551216 | AIP | c.594T>G c.428T>G (p.Ile143Ser) n.1129T>G c.468+731T>G (n.468+731T>G) c.248T>G (p.Ile83Ser) c.617T>G (p.Ile206Ser) c.440T>G (p.Ile147Ser) c.437T>G (p.Ile146Ser) c.269T>G (p.Ile90Ser) | |
| 11 | g.67490187T>A | CA475509281 | AIP | c.595T>A c.429T>A (p.Ile143=) n.1130T>A c.468+732T>A (n.468+732T>A) c.249T>A (p.Ile83=) c.618T>A (p.Ile206=) c.441T>A (p.Ile147=) c.438T>A (p.Ile146=) c.270T>A (p.Ile90=) | |
| 11 | g.67490187T>C | CA475509284 | AIP | c.595T>C c.429T>C (p.Ile143=) n.1130T>C c.468+732T>C (n.468+732T>C) c.249T>C (p.Ile83=) c.618T>C (p.Ile206=) c.441T>C (p.Ile147=) c.438T>C (p.Ile146=) c.270T>C (p.Ile90=) | |
| 11 | g.67490187T>G | CA381551217 | AIP | c.595T>G c.429T>G (p.Ile143Met) n.1130T>G c.468+732T>G (n.468+732T>G) c.249T>G (p.Ile83Met) c.618T>G (p.Ile206Met) c.441T>G (p.Ile147Met) c.438T>G (p.Ile146Met) c.270T>G (p.Ile90Met) | |
| 11 | g.67490188del | CA1139655036 | AIP | c.596del c.430del (p.Ala144ProfsTer8) n.1131del c.468+733del (n.468+733del) c.250del (p.Ala84ProfsTer8) c.619del (p.Ala207ProfsTer8) c.442del (p.Ala148ProfsTer8) c.439del (p.Ala147ProfsTer8) c.271del (p.Ala91ProfsTer8) | |
| 11 | g.67490188G>A | CA381551218 | AIP | c.596G>A c.430G>A (p.Ala144Thr) n.1131G>A c.468+733G>A (n.468+733G>A) c.250G>A (p.Ala84Thr) c.619G>A (p.Ala207Thr) c.442G>A (p.Ala148Thr) c.439G>A (p.Ala147Thr) c.271G>A (p.Ala91Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.67490188G>C | CA381551220 | AIP | c.596G>C c.430G>C (p.Ala144Pro) n.1131G>C c.468+733G>C (n.468+733G>C) c.250G>C (p.Ala84Pro) c.619G>C (p.Ala207Pro) c.442G>C (p.Ala148Pro) c.439G>C (p.Ala147Pro) c.271G>C (p.Ala91Pro) | ClinVar gnomAD v4 |
| 11 | g.67490188G= | CA1980172338 | AIP | c.596G= c.430G= (p.Ala144=) n.1131G= c.468+733G= (n.468+733G=) c.250G= (p.Ala84=) c.619G= (p.Ala207=) c.442G= (p.Ala148=) c.439G= (p.Ala147=) c.271G= (p.Ala91=) | |
| 11 | g.67490188G>T | CA381551222 | AIP | c.596G>T c.430G>T (p.Ala144Ser) n.1131G>T c.468+733G>T (n.468+733G>T) c.250G>T (p.Ala84Ser) c.619G>T (p.Ala207Ser) c.442G>T (p.Ala148Ser) c.439G>T (p.Ala147Ser) c.271G>T (p.Ala91Ser) | |
| 11 | g.67490189C>A | CA381551224 | AIP | c.597C>A c.431C>A (p.Ala144Asp) n.1132C>A c.468+734C>A (n.468+734C>A) c.251C>A (p.Ala84Asp) c.620C>A (p.Ala207Asp) c.443C>A (p.Ala148Asp) c.440C>A (p.Ala147Asp) c.272C>A (p.Ala91Asp) | |
| 11 | g.67490189C= | CA1980172339 | AIP | c.597C= c.431C= (p.Ala144=) n.1132C= c.468+734C= (n.468+734C=) c.251C= (p.Ala84=) c.620C= (p.Ala207=) c.443C= (p.Ala148=) c.440C= (p.Ala147=) c.272C= (p.Ala91=) | |
| 11 | g.67490189C>G | CA381551228 | AIP | c.597C>G c.431C>G (p.Ala144Gly) n.1132C>G c.468+734C>G (n.468+734C>G) c.251C>G (p.Ala84Gly) c.620C>G (p.Ala207Gly) c.443C>G (p.Ala148Gly) c.440C>G (p.Ala147Gly) c.272C>G (p.Ala91Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490189C>T | CA381551231 | AIP | c.597C>T c.431C>T (p.Ala144Val) n.1132C>T c.468+734C>T (n.468+734C>T) c.251C>T (p.Ala84Val) c.620C>T (p.Ala207Val) c.443C>T (p.Ala148Val) c.440C>T (p.Ala147Val) c.272C>T (p.Ala91Val) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490190C>A | CA475509285 | AIP | c.598C>A c.432C>A (p.Ala144=) n.1133C>A c.468+735C>A (n.468+735C>A) c.252C>A (p.Ala84=) c.621C>A (p.Ala207=) c.444C>A (p.Ala148=) c.441C>A (p.Ala147=) c.273C>A (p.Ala91=) | ClinVar |
| 11 | g.67490190C= | CA1980172340 | AIP | c.598C= c.432C= (p.Ala144=) n.1133C= c.468+735C= (n.468+735C=) c.252C= (p.Ala84=) c.621C= (p.Ala207=) c.444C= (p.Ala148=) c.441C= (p.Ala147=) c.273C= (p.Ala91=) | |
| 11 | g.67490190C>G | CA475509286 | AIP | c.598C>G c.432C>G (p.Ala144=) n.1133C>G c.468+735C>G (n.468+735C>G) c.252C>G (p.Ala84=) c.621C>G (p.Ala207=) c.444C>G (p.Ala148=) c.441C>G (p.Ala147=) c.273C>G (p.Ala91=) | |
| 11 | g.67490190C>T | CA475509288 | AIP | c.598C>T c.432C>T (p.Ala144=) n.1133C>T c.468+735C>T (n.468+735C>T) c.252C>T (p.Ala84=) c.621C>T (p.Ala207=) c.444C>T (p.Ala148=) c.441C>T (p.Ala147=) c.273C>T (p.Ala91=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490191T>A | CA381551233 | AIP | c.599T>A c.433T>A (p.Cys145Ser) n.1134T>A c.468+736T>A (n.468+736T>A) c.253T>A (p.Cys85Ser) c.622T>A (p.Cys208Ser) c.445T>A (p.Cys149Ser) c.442T>A (p.Cys148Ser) c.274T>A (p.Cys92Ser) | |
| 11 | g.67490191T>C | CA381551237 | AIP | c.599T>C c.433T>C (p.Cys145Arg) n.1134T>C c.468+736T>C (n.468+736T>C) c.253T>C (p.Cys85Arg) c.622T>C (p.Cys208Arg) c.445T>C (p.Cys149Arg) c.442T>C (p.Cys148Arg) c.274T>C (p.Cys92Arg) | |
| 11 | g.67490191T>G | CA381551238 | AIP | c.599T>G c.433T>G (p.Cys145Gly) n.1134T>G c.468+736T>G (n.468+736T>G) c.253T>G (p.Cys85Gly) c.622T>G (p.Cys208Gly) c.445T>G (p.Cys149Gly) c.442T>G (p.Cys148Gly) c.274T>G (p.Cys92Gly) | |
| 11 | g.67490192G>A | CA381551241 | AIP | c.600G>A c.434G>A (p.Cys145Tyr) n.1135G>A c.468+737G>A (n.468+737G>A) c.254G>A (p.Cys85Tyr) c.623G>A (p.Cys208Tyr) c.446G>A (p.Cys149Tyr) c.443G>A (p.Cys148Tyr) c.275G>A (p.Cys92Tyr) | gnomAD v4 |
| 11 | g.67490192G>C | CA381551243 | AIP | c.600G>C c.434G>C (p.Cys145Ser) n.1135G>C c.468+737G>C (n.468+737G>C) c.254G>C (p.Cys85Ser) c.623G>C (p.Cys208Ser) c.446G>C (p.Cys149Ser) c.443G>C (p.Cys148Ser) c.275G>C (p.Cys92Ser) | |
| 11 | g.67490192G>T | CA381551239 | AIP | c.600G>T c.434G>T (p.Cys145Phe) n.1135G>T c.468+737G>T (n.468+737G>T) c.254G>T (p.Cys85Phe) c.623G>T (p.Cys208Phe) c.446G>T (p.Cys149Phe) c.443G>T (p.Cys148Phe) c.275G>T (p.Cys92Phe) | |
| 11 | g.67490193C>A | CA381551247 | AIP | c.601C>A c.435C>A (p.Cys145Ter) n.1136C>A c.468+738C>A (n.468+738C>A) c.255C>A (p.Cys85Ter) c.624C>A (p.Cys208Ter) c.447C>A (p.Cys149Ter) c.444C>A (p.Cys148Ter) c.276C>A (p.Cys92Ter) | |
| 11 | g.67490193C>G | CA381551249 | AIP | c.601C>G c.435C>G (p.Cys145Trp) n.1136C>G c.468+738C>G (n.468+738C>G) c.255C>G (p.Cys85Trp) c.624C>G (p.Cys208Trp) c.447C>G (p.Cys149Trp) c.444C>G (p.Cys148Trp) c.276C>G (p.Cys92Trp) | |
| 11 | g.67490193C>T | CA475509291 | AIP | c.601C>T c.435C>T (p.Cys145=) n.1136C>T c.468+738C>T (n.468+738C>T) c.255C>T (p.Cys85=) c.624C>T (p.Cys208=) c.447C>T (p.Cys149=) c.444C>T (p.Cys148=) c.276C>T (p.Cys92=) | |
| 11 | g.67490194C>A | CA381551251 | AIP | c.602C>A c.436C>A (p.Leu146Ile) n.1137C>A c.468+739C>A (n.468+739C>A) c.256C>A (p.Leu86Ile) c.625C>A (p.Leu209Ile) c.448C>A (p.Leu150Ile) c.445C>A (p.Leu149Ile) c.277C>A (p.Leu93Ile) | |
| 11 | g.67490194C>G | CA381551252 | AIP | c.602C>G c.436C>G (p.Leu146Val) n.1137C>G c.468+739C>G (n.468+739C>G) c.256C>G (p.Leu86Val) c.625C>G (p.Leu209Val) c.448C>G (p.Leu150Val) c.445C>G (p.Leu149Val) c.277C>G (p.Leu93Val) | |
| 11 | g.67490194C>T | CA381551255 | AIP | c.602C>T c.436C>T (p.Leu146Phe) n.1137C>T c.468+739C>T (n.468+739C>T) c.256C>T (p.Leu86Phe) c.625C>T (p.Leu209Phe) c.448C>T (p.Leu150Phe) c.445C>T (p.Leu149Phe) c.277C>T (p.Leu93Phe) | |
| 11 | g.67490195T>A | CA381551260 | AIP | c.603T>A c.437T>A (p.Leu146His) n.1138T>A c.468+740T>A (n.468+740T>A) c.257T>A (p.Leu86His) c.626T>A (p.Leu209His) c.449T>A (p.Leu150His) c.446T>A (p.Leu149His) c.278T>A (p.Leu93His) | |
| 11 | g.67490195T>C | CA381551263 | AIP | c.603T>C c.437T>C (p.Leu146Pro) n.1138T>C c.468+740T>C (n.468+740T>C) c.257T>C (p.Leu86Pro) c.626T>C (p.Leu209Pro) c.449T>C (p.Leu150Pro) c.446T>C (p.Leu149Pro) c.278T>C (p.Leu93Pro) | |
| 11 | g.67490195T>G | CA381551266 | AIP | c.603T>G c.437T>G (p.Leu146Arg) n.1138T>G c.468+740T>G (n.468+740T>G) c.257T>G (p.Leu86Arg) c.626T>G (p.Leu209Arg) c.449T>G (p.Leu150Arg) c.446T>G (p.Leu149Arg) c.278T>G (p.Leu93Arg) | |
| 11 | g.67490196C>A | CA475509293 | AIP | c.604C>A c.438C>A (p.Leu146=) n.1139C>A c.468+741C>A (n.468+741C>A) c.258C>A (p.Leu86=) c.627C>A (p.Leu209=) c.450C>A (p.Leu150=) c.447C>A (p.Leu149=) c.279C>A (p.Leu93=) | |
| 11 | g.67490196C>G | CA475509295 | AIP | c.604C>G c.438C>G (p.Leu146=) n.1139C>G c.468+741C>G (n.468+741C>G) c.258C>G (p.Leu86=) c.627C>G (p.Leu209=) c.450C>G (p.Leu150=) c.447C>G (p.Leu149=) c.279C>G (p.Leu93=) | |
| 11 | g.67490196C>T | CA475509297 | AIP | c.604C>T c.438C>T (p.Leu146=) n.1139C>T c.468+741C>T (n.468+741C>T) c.258C>T (p.Leu86=) c.627C>T (p.Leu209=) c.450C>T (p.Leu150=) c.447C>T (p.Leu149=) c.279C>T (p.Leu93=) | |
| 11 | g.67490197A>C | CA381551271 | AIP | c.605A>C c.439A>C (p.Lys147Gln) n.1140A>C c.468+742A>C (n.468+742A>C) c.259A>C (p.Lys87Gln) c.628A>C (p.Lys210Gln) c.451A>C (p.Lys151Gln) c.448A>C (p.Lys150Gln) c.280A>C (p.Lys94Gln) | ClinVar |
| 11 | g.67490197A>G | CA381551274 | AIP | c.605A>G c.439A>G (p.Lys147Glu) n.1140A>G c.468+742A>G (n.468+742A>G) c.259A>G (p.Lys87Glu) c.628A>G (p.Lys210Glu) c.451A>G (p.Lys151Glu) c.448A>G (p.Lys150Glu) c.280A>G (p.Lys94Glu) | |
| 11 | g.67490197A>T | CA381551277 | AIP | c.605A>T c.439A>T (p.Lys147Ter) n.1140A>T c.468+742A>T (n.468+742A>T) c.259A>T (p.Lys87Ter) c.628A>T (p.Lys210Ter) c.451A>T (p.Lys151Ter) c.448A>T (p.Lys150Ter) c.280A>T (p.Lys94Ter) | |
| 11 | g.67490198A>C | CA381551281 | AIP | c.606A>C c.440A>C (p.Lys147Thr) n.1141A>C c.468+743A>C (n.468+743A>C) c.260A>C (p.Lys87Thr) c.629A>C (p.Lys210Thr) c.452A>C (p.Lys151Thr) c.449A>C (p.Lys150Thr) c.281A>C (p.Lys94Thr) | |
| 11 | g.67490198A>G | CA381551284 | AIP | c.606A>G c.440A>G (p.Lys147Arg) n.1141A>G c.468+743A>G (n.468+743A>G) c.260A>G (p.Lys87Arg) c.629A>G (p.Lys210Arg) c.452A>G (p.Lys151Arg) c.449A>G (p.Lys150Arg) c.281A>G (p.Lys94Arg) | |
| 11 | g.67490198A>T | CA381551286 | AIP | c.606A>T c.440A>T (p.Lys147Met) n.1141A>T c.468+743A>T (n.468+743A>T) c.260A>T (p.Lys87Met) c.629A>T (p.Lys210Met) c.452A>T (p.Lys151Met) c.449A>T (p.Lys150Met) c.281A>T (p.Lys94Met) | |
| 11 | g.67490199del | CA2695214803 | AIP | c.607del c.441del (p.Asn148ThrfsTer4) n.1142del c.468+744del (n.468+744del) c.261del (p.Asn88ThrfsTer4) c.630del (p.Asn211ThrfsTer4) c.453del (p.Asn152ThrfsTer4) c.450del (p.Asn151ThrfsTer4) c.282del (p.Asn95ThrfsTer4) | |
| 11 | g.67490199G>A | CA224165084 | AIP | c.607G>A c.441G>A (p.Lys147=) n.1142G>A c.468+744G>A (n.468+744G>A) c.261G>A (p.Lys87=) c.630G>A (p.Lys210=) c.453G>A (p.Lys151=) c.450G>A (p.Lys150=) c.282G>A (p.Lys94=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.67490199G>C | CA381551291 | AIP | c.607G>C c.441G>C (p.Lys147Asn) n.1142G>C c.468+744G>C (n.468+744G>C) c.261G>C (p.Lys87Asn) c.630G>C (p.Lys210Asn) c.453G>C (p.Lys151Asn) c.450G>C (p.Lys150Asn) c.282G>C (p.Lys94Asn) | |
| 11 | g.67490199G= | CA1980172341 | AIP | c.607G= c.441G= (p.Lys147=) n.1142G= c.468+744G= (n.468+744G=) c.261G= (p.Lys87=) c.630G= (p.Lys210=) c.453G= (p.Lys151=) c.450G= (p.Lys150=) c.282G= (p.Lys94=) | |
| 11 | g.67490199G>T | CA381551294 | AIP | c.607G>T c.441G>T (p.Lys147Asn) n.1142G>T c.468+744G>T (n.468+744G>T) c.261G>T (p.Lys87Asn) c.630G>T (p.Lys210Asn) c.453G>T (p.Lys151Asn) c.450G>T (p.Lys150Asn) c.282G>T (p.Lys94Asn) | |
| 11 | g.67490200A= | CA1980172342 | AIP | c.608A= c.442A= (p.Asn148=) n.1143A= c.468+745A= (n.468+745A=) c.262A= (p.Asn88=) c.631A= (p.Asn211=) c.454A= (p.Asn152=) c.451A= (p.Asn151=) c.283A= (p.Asn95=) | |
| 11 | g.67490200A>C | CA381551298 | AIP | c.608A>C c.442A>C (p.Asn148His) n.1143A>C c.468+745A>C (n.468+745A>C) c.262A>C (p.Asn88His) c.631A>C (p.Asn211His) c.454A>C (p.Asn152His) c.451A>C (p.Asn151His) c.283A>C (p.Asn95His) | |
| 11 | g.67490200A>G | CA381551301 | AIP | c.608A>G c.442A>G (p.Asn148Asp) n.1143A>G c.468+745A>G (n.468+745A>G) c.262A>G (p.Asn88Asp) c.631A>G (p.Asn211Asp) c.454A>G (p.Asn152Asp) c.451A>G (p.Asn151Asp) c.283A>G (p.Asn95Asp) | ClinVar gnomAD v4 |
| 11 | g.67490200A>T | CA6140881 | AIP | c.608A>T c.442A>T (p.Asn148Tyr) n.1143A>T c.468+745A>T (n.468+745A>T) c.262A>T (p.Asn88Tyr) c.631A>T (p.Asn211Tyr) c.454A>T (p.Asn152Tyr) c.451A>T (p.Asn151Tyr) c.283A>T (p.Asn95Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.67490201A>C | CA381551307 | AIP | c.609A>C c.443A>C (p.Asn148Thr) n.1144A>C c.468+746A>C (n.468+746A>C) c.263A>C (p.Asn88Thr) c.632A>C (p.Asn211Thr) c.455A>C (p.Asn152Thr) c.452A>C (p.Asn151Thr) c.284A>C (p.Asn95Thr) | |
| 11 | g.67490201A>G | CA381551310 | AIP | c.609A>G c.443A>G (p.Asn148Ser) n.1144A>G c.468+746A>G (n.468+746A>G) c.263A>G (p.Asn88Ser) c.632A>G (p.Asn211Ser) c.455A>G (p.Asn152Ser) c.452A>G (p.Asn151Ser) c.284A>G (p.Asn95Ser) | |
| 11 | g.67490201A>T | CA381551314 | AIP | c.609A>T c.443A>T (p.Asn148Ile) n.1144A>T c.468+746A>T (n.468+746A>T) c.263A>T (p.Asn88Ile) c.632A>T (p.Asn211Ile) c.455A>T (p.Asn152Ile) c.452A>T (p.Asn151Ile) c.284A>T (p.Asn95Ile) | |
| 11 | g.67490202C>A | CA224165090 | AIP | c.610C>A c.444C>A (p.Asn148Lys) n.1145C>A c.468+747C>A (n.468+747C>A) c.264C>A (p.Asn88Lys) c.633C>A (p.Asn211Lys) c.456C>A (p.Asn152Lys) c.453C>A (p.Asn151Lys) c.285C>A (p.Asn95Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.67490202C= | CA1980172343 | AIP | c.610C= c.444C= (p.Asn148=) n.1145C= c.468+747C= (n.468+747C=) c.264C= (p.Asn88=) c.633C= (p.Asn211=) c.456C= (p.Asn152=) c.453C= (p.Asn151=) c.285C= (p.Asn95=) | |
| 11 | g.67490202C>G | CA381551321 | AIP | c.610C>G c.444C>G (p.Asn148Lys) n.1145C>G c.468+747C>G (n.468+747C>G) c.264C>G (p.Asn88Lys) c.633C>G (p.Asn211Lys) c.456C>G (p.Asn152Lys) c.453C>G (p.Asn151Lys) c.285C>G (p.Asn95Lys) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490202C>T | CA475509308 | AIP | c.610C>T c.444C>T (p.Asn148=) n.1145C>T c.468+747C>T (n.468+747C>T) c.264C>T (p.Asn88=) c.633C>T (p.Asn211=) c.456C>T (p.Asn152=) c.453C>T (p.Asn151=) c.285C>T (p.Asn95=) | |
| 11 | g.67490203C>A | CA381551325 | AIP | c.611C>A c.445C>A (p.Leu149Met) n.1146C>A c.468+748C>A (n.468+748C>A) c.265C>A (p.Leu89Met) c.634C>A (p.Leu212Met) c.457C>A (p.Leu153Met) c.454C>A (p.Leu152Met) c.286C>A (p.Leu96Met) | |
| 11 | g.67490203C= | CA1980172344 | AIP | c.611C= c.445C= (p.Leu149=) n.1146C= c.468+748C= (n.468+748C=) c.265C= (p.Leu89=) c.634C= (p.Leu212=) c.457C= (p.Leu153=) c.454C= (p.Leu152=) c.286C= (p.Leu96=) | |
| 11 | g.67490203C>G | CA381551329 | AIP | c.611C>G c.445C>G (p.Leu149Val) n.1146C>G c.468+748C>G (n.468+748C>G) c.265C>G (p.Leu89Val) c.634C>G (p.Leu212Val) c.457C>G (p.Leu153Val) c.454C>G (p.Leu152Val) c.286C>G (p.Leu96Val) | |
| 11 | g.67490203C>T | CA6140882 | AIP | c.611C>T c.445C>T (p.Leu149=) n.1146C>T c.468+748C>T (n.468+748C>T) c.265C>T (p.Leu89=) c.634C>T (p.Leu212=) c.457C>T (p.Leu153=) c.454C>T (p.Leu152=) c.286C>T (p.Leu96=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490204T>A | CA381551338 | AIP | c.612T>A c.446T>A (p.Leu149Gln) n.1147T>A c.468+749T>A (n.468+749T>A) c.266T>A (p.Leu89Gln) c.635T>A (p.Leu212Gln) c.458T>A (p.Leu153Gln) c.455T>A (p.Leu152Gln) c.287T>A (p.Leu96Gln) | |
| 11 | g.67490204T>C | CA381551340 | AIP | c.612T>C c.446T>C (p.Leu149Pro) n.1147T>C c.468+749T>C (n.468+749T>C) c.266T>C (p.Leu89Pro) c.635T>C (p.Leu212Pro) c.458T>C (p.Leu153Pro) c.455T>C (p.Leu152Pro) c.287T>C (p.Leu96Pro) | |
| 11 | g.67490204T>G | CA381551335 | AIP | c.612T>G c.446T>G (p.Leu149Arg) n.1147T>G c.468+749T>G (n.468+749T>G) c.266T>G (p.Leu89Arg) c.635T>G (p.Leu212Arg) c.458T>G (p.Leu153Arg) c.455T>G (p.Leu152Arg) c.287T>G (p.Leu96Arg) | |
| 11 | g.67490205G>A | CA475509314 | AIP | c.613G>A c.447G>A (p.Leu149=) n.1148G>A c.468+750G>A (n.468+750G>A) c.267G>A (p.Leu89=) c.636G>A (p.Leu212=) c.459G>A (p.Leu153=) c.456G>A (p.Leu152=) c.288G>A (p.Leu96=) | |
| 11 | g.67490205G>C | CA475509315 | AIP | c.613G>C c.447G>C (p.Leu149=) n.1148G>C c.468+750G>C (n.468+750G>C) c.267G>C (p.Leu89=) c.636G>C (p.Leu212=) c.459G>C (p.Leu153=) c.456G>C (p.Leu152=) c.288G>C (p.Leu96=) | |
| 11 | g.67490205G>T | CA475509316 | AIP | c.613G>T c.447G>T (p.Leu149=) n.1148G>T c.468+750G>T (n.468+750G>T) c.267G>T (p.Leu89=) c.636G>T (p.Leu212=) c.459G>T (p.Leu153=) c.456G>T (p.Leu152=) c.288G>T (p.Leu96=) | |
| 11 | g.67490205_67490217del | CA2614623406 | AIP | c.613_622+3del c.447_456+3del n.1148_1157+3del c.468+750_468+762del (n.468+750_468+762del) c.267_276+3del c.636_645+3del c.459_468+3del c.456_465+3del c.288_297+3del | gnomAD v4 |
| 11 | g.67490206C>A | CA381551342 | AIP | c.614C>A c.448C>A (p.Gln150Lys) n.1149C>A c.468+751C>A (n.468+751C>A) c.268C>A (p.Gln90Lys) c.637C>A (p.Gln213Lys) c.460C>A (p.Gln154Lys) c.457C>A (p.Gln153Lys) c.289C>A (p.Gln97Lys) | |
| 11 | g.67490206C>G | CA381551346 | AIP | c.614C>G c.448C>G (p.Gln150Glu) n.1149C>G c.468+751C>G (n.468+751C>G) c.268C>G (p.Gln90Glu) c.637C>G (p.Gln213Glu) c.460C>G (p.Gln154Glu) c.457C>G (p.Gln153Glu) c.289C>G (p.Gln97Glu) | |
| 11 | g.67490206C>T | CA381551347 | AIP | c.614C>T c.448C>T (p.Gln150Ter) n.1149C>T c.468+751C>T (n.468+751C>T) c.268C>T (p.Gln90Ter) c.637C>T (p.Gln213Ter) c.460C>T (p.Gln154Ter) c.457C>T (p.Gln153Ter) c.289C>T (p.Gln97Ter) | |
| 11 | g.67490207A>C | CA381551351 | AIP | c.615A>C c.449A>C (p.Gln150Pro) n.1150A>C c.468+752A>C (n.468+752A>C) c.269A>C (p.Gln90Pro) c.638A>C (p.Gln213Pro) c.461A>C (p.Gln154Pro) c.458A>C (p.Gln153Pro) c.290A>C (p.Gln97Pro) | |
| 11 | g.67490207A>G | CA381551355 | AIP | c.615A>G c.449A>G (p.Gln150Arg) n.1150A>G c.468+752A>G (n.468+752A>G) c.269A>G (p.Gln90Arg) c.638A>G (p.Gln213Arg) c.461A>G (p.Gln154Arg) c.458A>G (p.Gln153Arg) c.290A>G (p.Gln97Arg) | |
| 11 | g.67490207A>T | CA381551358 | AIP | c.615A>T c.449A>T (p.Gln150Leu) n.1150A>T c.468+752A>T (n.468+752A>T) c.269A>T (p.Gln90Leu) c.638A>T (p.Gln213Leu) c.461A>T (p.Gln154Leu) c.458A>T (p.Gln153Leu) c.290A>T (p.Gln97Leu) | |
| 11 | g.67490208G>A | CA475509319 | AIP | c.616G>A c.450G>A (p.Gln150=) n.1151G>A c.468+753G>A (n.468+753G>A) c.270G>A (p.Gln90=) c.639G>A (p.Gln213=) c.462G>A (p.Gln154=) c.459G>A (p.Gln153=) c.291G>A (p.Gln97=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490208G>C | CA381551362 | AIP | c.616G>C c.450G>C (p.Gln150His) n.1151G>C c.468+753G>C (n.468+753G>C) c.270G>C (p.Gln90His) c.639G>C (p.Gln213His) c.462G>C (p.Gln154His) c.459G>C (p.Gln153His) c.291G>C (p.Gln97His) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.67490208G= | CA1980172345 | AIP | c.616G= c.450G= (p.Gln150=) n.1151G= c.468+753G= (n.468+753G=) c.270G= (p.Gln90=) c.639G= (p.Gln213=) c.462G= (p.Gln154=) c.459G= (p.Gln153=) c.291G= (p.Gln97=) | |
| 11 | g.67490208G>T | CA381551365 | AIP | c.616G>T c.450G>T (p.Gln150His) n.1151G>T c.468+753G>T (n.468+753G>T) c.270G>T (p.Gln90His) c.639G>T (p.Gln213His) c.462G>T (p.Gln154His) c.459G>T (p.Gln153His) c.291G>T (p.Gln97His) | |
| 11 | g.67490210_67490212del | CA2580084735 | AIP | c.618_620del c.452_454del (p.Met151del) n.1153_1155del c.468+755_468+757del (n.468+755_468+757del) c.272_274del (p.Met91del) c.641_643del (p.Met214del) c.464_466del (p.Met155del) c.461_463del (p.Met154del) c.293_295del (p.Met98del) | ClinVar |
| 11 | g.67490209A>C | CA224165102 | AIP | c.617A>C c.451A>C (p.Met151Leu) n.1152A>C c.468+754A>C (n.468+754A>C) c.271A>C (p.Met91Leu) c.640A>C (p.Met214Leu) c.463A>C (p.Met155Leu) c.460A>C (p.Met154Leu) c.292A>C (p.Met98Leu) | |
| 11 | g.67490209A>G | CA381551366 | AIP | c.617A>G c.451A>G (p.Met151Val) n.1152A>G c.468+754A>G (n.468+754A>G) c.271A>G (p.Met91Val) c.640A>G (p.Met214Val) c.463A>G (p.Met155Val) c.460A>G (p.Met154Val) c.292A>G (p.Met98Val) | |
| 11 | g.67490209A>T | CA381551367 | AIP | c.617A>T c.451A>T (p.Met151Leu) n.1152A>T c.468+754A>T (n.468+754A>T) c.271A>T (p.Met91Leu) c.640A>T (p.Met214Leu) c.463A>T (p.Met155Leu) c.460A>T (p.Met154Leu) c.292A>T (p.Met98Leu) | gnomAD v4 |
| 11 | g.67490210T>A | CA381551370 | AIP | c.618T>A c.452T>A (p.Met151Lys) n.1153T>A c.468+755T>A (n.468+755T>A) c.272T>A (p.Met91Lys) c.641T>A (p.Met214Lys) c.464T>A (p.Met155Lys) c.461T>A (p.Met154Lys) c.293T>A (p.Met98Lys) | |
| 11 | g.67490210T>C | CA381551373 | AIP | c.618T>C c.452T>C (p.Met151Thr) n.1153T>C c.468+755T>C (n.468+755T>C) c.272T>C (p.Met91Thr) c.641T>C (p.Met214Thr) c.464T>C (p.Met155Thr) c.461T>C (p.Met154Thr) c.293T>C (p.Met98Thr) | ClinVar |
| 11 | g.67490210T>G | CA381551368 | AIP | c.618T>G c.452T>G (p.Met151Arg) n.1153T>G c.468+755T>G (n.468+755T>G) c.272T>G (p.Met91Arg) c.641T>G (p.Met214Arg) c.464T>G (p.Met155Arg) c.461T>G (p.Met154Arg) c.293T>G (p.Met98Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490210T= | CA1980172346 | AIP | c.618T= c.452T= (p.Met151=) n.1153T= c.468+755T= (n.468+755T=) c.272T= (p.Met91=) c.641T= (p.Met214=) c.464T= (p.Met155=) c.461T= (p.Met154=) c.293T= (p.Met98=) | |
| 11 | g.67490211G>A | CA381551376 | AIP | c.619G>A c.453G>A (p.Met151Ile) n.1154G>A c.468+756G>A (n.468+756G>A) c.273G>A (p.Met91Ile) c.642G>A (p.Met214Ile) c.465G>A (p.Met155Ile) c.462G>A (p.Met154Ile) c.294G>A (p.Met98Ile) | |
| 11 | g.67490211G>C | CA381551379 | AIP | c.619G>C c.453G>C (p.Met151Ile) n.1154G>C c.468+756G>C (n.468+756G>C) c.273G>C (p.Met91Ile) c.642G>C (p.Met214Ile) c.465G>C (p.Met155Ile) c.462G>C (p.Met154Ile) c.294G>C (p.Met98Ile) | |
| 11 | g.67490211G>T | CA381551382 | AIP | c.619G>T c.453G>T (p.Met151Ile) n.1154G>T c.468+756G>T (n.468+756G>T) c.273G>T (p.Met91Ile) c.642G>T (p.Met214Ile) c.465G>T (p.Met155Ile) c.462G>T (p.Met154Ile) c.294G>T (p.Met98Ile) | |
| 11 | g.67490212A= | CA1980172347 | AIP | c.620A= c.454A= (p.Lys152=) n.1155A= c.468+757A= (n.468+757A=) c.274A= (p.Lys92=) c.643A= (p.Lys215=) c.466A= (p.Lys156=) c.463A= (p.Lys155=) c.295A= (p.Lys99=) | |
| 11 | g.67490212A>C | CA381551386 | AIP | c.620A>C c.454A>C (p.Lys152Gln) n.1155A>C c.468+757A>C (n.468+757A>C) c.274A>C (p.Lys92Gln) c.643A>C (p.Lys215Gln) c.466A>C (p.Lys156Gln) c.463A>C (p.Lys155Gln) c.295A>C (p.Lys99Gln) | |
| 11 | g.67490212A>G | CA381551388 | AIP | c.620A>G c.454A>G (p.Lys152Glu) n.1155A>G c.468+757A>G (n.468+757A>G) c.274A>G (p.Lys92Glu) c.643A>G (p.Lys215Glu) c.466A>G (p.Lys156Glu) c.463A>G (p.Lys155Glu) c.295A>G (p.Lys99Glu) | |
| 11 | g.67490212A>T | CA381551389 | AIP | c.620A>T c.454A>T (p.Lys152Ter) n.1155A>T c.468+757A>T (n.468+757A>T) c.274A>T (p.Lys92Ter) c.643A>T (p.Lys215Ter) c.466A>T (p.Lys156Ter) c.463A>T (p.Lys155Ter) c.295A>T (p.Lys99Ter) | ClinVar dbSNP |
| 11 | g.67490213A>C | CA381551392 | AIP | c.621A>C c.455A>C (p.Lys152Thr) n.1156A>C c.468+758A>C (n.468+758A>C) c.275A>C (p.Lys92Thr) c.644A>C (p.Lys215Thr) c.467A>C (p.Lys156Thr) c.464A>C (p.Lys155Thr) c.296A>C (p.Lys99Thr) | ClinVar |
| 11 | g.67490213A>G | CA381551400 | AIP | c.621A>G c.455A>G (p.Lys152Arg) n.1156A>G c.468+758A>G (n.468+758A>G) c.275A>G (p.Lys92Arg) c.644A>G (p.Lys215Arg) c.467A>G (p.Lys156Arg) c.464A>G (p.Lys155Arg) c.296A>G (p.Lys99Arg) | |
| 11 | g.67490213A>T | CA381551399 | AIP | c.621A>T c.455A>T (p.Lys152Met) n.1156A>T c.468+758A>T (n.468+758A>T) c.275A>T (p.Lys92Met) c.644A>T (p.Lys215Met) c.467A>T (p.Lys156Met) c.464A>T (p.Lys155Met) c.296A>T (p.Lys99Met) | |
| 11 | g.67490216_67490316del | CA2792512322 | AIP | c.622+2_623del c.456+2_457del n.1157+2_1158del c.468+761_469-681del (n.468+761_469-681del) c.276+2_277del c.645+2_646del c.468+2_469del c.465+2_466del c.297+2_298del | |
| 11 | g.67490214G>A | CA475509324 | AIP | c.622G>A c.456G>A (p.Lys152=) n.1157G>A c.468+759G>A (n.468+759G>A) c.276G>A (p.Lys92=) c.645G>A (p.Lys215=) c.468G>A (p.Lys156=) c.465G>A (p.Lys155=) c.297G>A (p.Lys99=) | gnomAD v4 |
| 11 | g.67490214G>C | CA381551403 | AIP | c.622G>C c.456G>C (p.Lys152Asn) n.1157G>C c.468+759G>C (n.468+759G>C) c.276G>C (p.Lys92Asn) c.645G>C (p.Lys215Asn) c.468G>C (p.Lys156Asn) c.465G>C (p.Lys155Asn) c.297G>C (p.Lys99Asn) | ClinVar |
| 11 | g.67490214G>T | CA381551405 | AIP | c.622G>T c.456G>T (p.Lys152Asn) n.1157G>T c.468+759G>T (n.468+759G>T) c.276G>T (p.Lys92Asn) c.645G>T (p.Lys215Asn) c.468G>T (p.Lys156Asn) c.465G>T (p.Lys155Asn) c.297G>T (p.Lys99Asn) | gnomAD v4 |
| 11 | g.67490215G>A | CA381551408 | AIP | c.622+1G>A c.456+1G>A (n.456+1G>A) n.1157+1G>A c.468+760G>A (n.468+760G>A) c.276+1G>A (n.276+1G>A) c.645+1G>A (n.645+1G>A) c.468+1G>A (n.468+1G>A) c.465+1G>A (n.465+1G>A) c.297+1G>A (n.297+1G>A) | |
| 11 | g.67490215G>C | CA381551410 | AIP | c.622+1G>C c.456+1G>C (n.456+1G>C) n.1157+1G>C c.468+760G>C (n.468+760G>C) c.276+1G>C (n.276+1G>C) c.645+1G>C (n.645+1G>C) c.468+1G>C (n.468+1G>C) c.465+1G>C (n.465+1G>C) c.297+1G>C (n.297+1G>C) | gnomAD v4 |
| 11 | g.67490215G>T | CA381551414 | AIP | c.622+1G>T c.456+1G>T (n.456+1G>T) n.1157+1G>T c.468+760G>T (n.468+760G>T) c.276+1G>T (n.276+1G>T) c.645+1G>T (n.645+1G>T) c.468+1G>T (n.468+1G>T) c.465+1G>T (n.465+1G>T) c.297+1G>T (n.297+1G>T) | |
| 11 | g.67490216T>A | CA381551421 | AIP | c.622+2T>A c.456+2T>A (n.456+2T>A) n.1157+2T>A c.468+761T>A (n.468+761T>A) c.276+2T>A (n.276+2T>A) c.645+2T>A (n.645+2T>A) c.468+2T>A (n.468+2T>A) c.465+2T>A (n.465+2T>A) c.297+2T>A (n.297+2T>A) | |
| 11 | g.67490216T>C | CA381551423 | AIP | c.622+2T>C c.456+2T>C (n.456+2T>C) n.1157+2T>C c.468+761T>C (n.468+761T>C) c.276+2T>C (n.276+2T>C) c.645+2T>C (n.645+2T>C) c.468+2T>C (n.468+2T>C) c.465+2T>C (n.465+2T>C) c.297+2T>C (n.297+2T>C) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490216T>G | CA381551419 | AIP | c.622+2T>G c.456+2T>G (n.456+2T>G) n.1157+2T>G c.468+761T>G (n.468+761T>G) c.276+2T>G (n.276+2T>G) c.645+2T>G (n.645+2T>G) c.468+2T>G (n.468+2T>G) c.465+2T>G (n.465+2T>G) c.297+2T>G (n.297+2T>G) | |
| 11 | g.67490216T= | CA1980172348 | AIP | c.622+2T= c.456+2T= (n.456+2T=) n.1157+2T= c.468+761T= (n.468+761T=) c.276+2T= (n.276+2T=) c.645+2T= (n.645+2T=) c.468+2T= (n.468+2T=) c.465+2T= (n.465+2T=) c.297+2T= (n.297+2T=) | |
| 11 | g.67490216_67490217insGGGCTCTCCCATCCCTCGGGGTTCCGCCGCCCTCCTGTCGGTGCCGGCGCTC | CA2505234741 | AIP | c.622+2_622+3insGGGCTCTCCCATCCCTCGGGGTTCCGCCGCCCTCCTGTCGGTGCCGGCGCTC c.456+2_456+3insGGGCTCTCCCATCCCTCGGGGTTCCGCCGCCCTCCTGTCGGTGCCGGCGCTC (n.456+2_456+3insGGGCTCTCCCATCCCTCGGGGTTCCGCCGCCCTCCTGTCGGTGCCGGCGCTC) n.1157+2_1157+3insGGGCTCTCCCATCCCTCGGGGTTCCGCCGCCCTCCTGTCGGTGCCGGCGCTC c.468+761_468+762insGGGCTCTCCCATCCCTCGGGGTTCCGCCGCCCTCCTGTCGGTGCCGGCGCTC (n.468+761_468+762insGGGCTCTCCCATCCCTCGGGGTTCCGCCGCCCTCCTGTCGGTGCCGGCGCTC) c.276+2_276+3insGGGCTCTCCCATCCCTCGGGGTTCCGCCGCCCTCCTGTCGGTGCCGGCGCTC (n.276+2_276+3insGGGCTCTCCCATCCCTCGGGGTTCCGCCGCCCTCCTGTCGGTGCCGGCGCTC) c.645+2_645+3insGGGCTCTCCCATCCCTCGGGGTTCCGCCGCCCTCCTGTCGGTGCCGGCGCTC (n.645+2_645+3insGGGCTCTCCCATCCCTCGGGGTTCCGCCGCCCTCCTGTCGGTGCCGGCGCTC) c.468+2_468+3insGGGCTCTCCCATCCCTCGGGGTTCCGCCGCCCTCCTGTCGGTGCCGGCGCTC (n.468+2_468+3insGGGCTCTCCCATCCCTCGGGGTTCCGCCGCCCTCCTGTCGGTGCCGGCGCTC) c.465+2_465+3insGGGCTCTCCCATCCCTCGGGGTTCCGCCGCCCTCCTGTCGGTGCCGGCGCTC (n.465+2_465+3insGGGCTCTCCCATCCCTCGGGGTTCCGCCGCCCTCCTGTCGGTGCCGGCGCTC) c.297+2_297+3insGGGCTCTCCCATCCCTCGGGGTTCCGCCGCCCTCCTGTCGGTGCCGGCGCTC (n.297+2_297+3insGGGCTCTCCCATCCCTCGGGGTTCCGCCGCCCTCCTGTCGGTGCCGGCGCTC) | |
| 11 | g.67490217A>G | CA2724392283 | AIP | c.622+3A>G c.456+3A>G (n.456+3A>G) n.1157+3A>G c.468+762A>G (n.468+762A>G) c.276+3A>G (n.276+3A>G) c.645+3A>G (n.645+3A>G) c.468+3A>G (n.468+3A>G) c.465+3A>G (n.465+3A>G) c.297+3A>G (n.297+3A>G) | dbSNP |
| 11 | g.67490217_67490251del | CA2792512324 | AIP | c.622+3_622+37del c.456+3_456+37del (n.456+3_456+37del) n.1157+3_1157+37del c.468+762_469-746del (n.468+762_469-746del) c.276+3_276+37del (n.276+3_276+37del) c.645+3_645+37del (n.645+3_645+37del) c.468+3_468+37del (n.468+3_468+37del) c.465+3_465+37del (n.465+3_465+37del) c.297+3_297+37del (n.297+3_297+37del) | |
| 11 | g.67490218C= | CA1980172349 | AIP | c.622+4C= c.456+4C= (n.456+4C=) n.1157+4C= c.468+763C= (n.468+763C=) c.276+4C= (n.276+4C=) c.645+4C= (n.645+4C=) c.468+4C= (n.468+4C=) c.465+4C= (n.465+4C=) c.297+4C= (n.297+4C=) | |
| 11 | g.67490218C>G | CA679494033 | AIP | c.622+4C>G c.456+4C>G (n.456+4C>G) n.1157+4C>G c.468+763C>G (n.468+763C>G) c.276+4C>G (n.276+4C>G) c.645+4C>G (n.645+4C>G) c.468+4C>G (n.468+4C>G) c.465+4C>G (n.465+4C>G) c.297+4C>G (n.297+4C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.67490220G>A | CA1980172351 | AIP | c.622+6G>A c.456+6G>A (n.456+6G>A) n.1157+6G>A c.468+765G>A (n.468+765G>A) c.276+6G>A (n.276+6G>A) c.645+6G>A (n.645+6G>A) c.468+6G>A (n.468+6G>A) c.465+6G>A (n.465+6G>A) c.297+6G>A (n.297+6G>A) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490220G= | CA1980172350 | AIP | c.622+6G= c.456+6G= (n.456+6G=) n.1157+6G= c.468+765G= (n.468+765G=) c.276+6G= (n.276+6G=) c.645+6G= (n.645+6G=) c.468+6G= (n.468+6G=) c.465+6G= (n.465+6G=) c.297+6G= (n.297+6G=) | |
| 11 | g.67490220G>T | CA2614623423 | AIP | c.622+6G>T c.456+6G>T (n.456+6G>T) n.1157+6G>T c.468+765G>T (n.468+765G>T) c.276+6G>T (n.276+6G>T) c.645+6G>T (n.645+6G>T) c.468+6G>T (n.468+6G>T) c.465+6G>T (n.465+6G>T) c.297+6G>T (n.297+6G>T) | gnomAD v4 |
| 11 | g.67490221C= | CA1980172352 | AIP | c.622+7C= c.456+7C= (n.456+7C=) n.1157+7C= c.468+766C= (n.468+766C=) c.276+7C= (n.276+7C=) c.645+7C= (n.645+7C=) c.468+7C= (n.468+7C=) c.465+7C= (n.465+7C=) c.297+7C= (n.297+7C=) | |
| 11 | g.67490221C>T | CA1980172353 | AIP | c.622+7C>T c.456+7C>T (n.456+7C>T) n.1157+7C>T c.468+766C>T (n.468+766C>T) c.276+7C>T (n.276+7C>T) c.645+7C>T (n.645+7C>T) c.468+7C>T (n.468+7C>T) c.465+7C>T (n.465+7C>T) c.297+7C>T (n.297+7C>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490222del | CA2580084739 | AIP | c.622+8del c.456+8del (n.456+8del) n.1157+8del c.468+767del (n.468+767del) c.276+8del (n.276+8del) c.645+8del (n.645+8del) c.468+8del (n.468+8del) c.465+8del (n.465+8del) c.297+8del (n.297+8del) | ClinVar gnomAD v4 |
| 11 | g.67490222C>T | CA2614623424 | AIP | c.622+8C>T c.456+8C>T (n.456+8C>T) n.1157+8C>T c.468+767C>T (n.468+767C>T) c.276+8C>T (n.276+8C>T) c.645+8C>T (n.645+8C>T) c.468+8C>T (n.468+8C>T) c.465+8C>T (n.465+8C>T) c.297+8C>T (n.297+8C>T) | gnomAD v4 |
| 11 | g.67490223T>G | CA2614623425 | AIP | c.622+9T>G c.456+9T>G (n.456+9T>G) n.1157+9T>G c.468+768T>G (n.468+768T>G) c.276+9T>G (n.276+9T>G) c.645+9T>G (n.645+9T>G) c.468+9T>G (n.468+9T>G) c.465+9T>G (n.465+9T>G) c.297+9T>G (n.297+9T>G) | gnomAD v4 |
| 11 | g.67490226A= | CA1980172354 | AIP | c.622+12A= c.456+12A= (n.456+12A=) n.1157+12A= c.469-771A= (n.469-771A=) c.276+12A= (n.276+12A=) c.645+12A= (n.645+12A=) c.468+12A= (n.468+12A=) c.465+12A= (n.465+12A=) c.297+12A= (n.297+12A=) | |
| 11 | g.67490226A>G | CA6140883 | AIP | c.622+12A>G c.456+12A>G (n.456+12A>G) n.1157+12A>G c.469-771A>G (n.469-771A>G) c.276+12A>G (n.276+12A>G) c.645+12A>G (n.645+12A>G) c.468+12A>G (n.468+12A>G) c.465+12A>G (n.465+12A>G) c.297+12A>G (n.297+12A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490228G>A | CA2614623429 | AIP | c.622+14G>A c.456+14G>A (n.456+14G>A) n.1157+14G>A c.469-769G>A (n.469-769G>A) c.276+14G>A (n.276+14G>A) c.645+14G>A (n.645+14G>A) c.468+14G>A (n.468+14G>A) c.465+14G>A (n.465+14G>A) c.297+14G>A (n.297+14G>A) | gnomAD v4 |
| 11 | g.67490229C= | CA1980172355 | AIP | c.622+15C= c.456+15C= (n.456+15C=) n.1157+15C= c.469-768C= (n.469-768C=) c.276+15C= (n.276+15C=) c.645+15C= (n.645+15C=) c.468+15C= (n.468+15C=) c.465+15C= (n.465+15C=) c.297+15C= (n.297+15C=) | |
| 11 | g.67490229C>G | CA6140884 | AIP | c.622+15C>G c.456+15C>G (n.456+15C>G) n.1157+15C>G c.469-768C>G (n.469-768C>G) c.276+15C>G (n.276+15C>G) c.645+15C>G (n.645+15C>G) c.468+15C>G (n.468+15C>G) c.465+15C>G (n.465+15C>G) c.297+15C>G (n.297+15C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.67490230T>A | CA1980172357 | AIP | c.622+16T>A c.456+16T>A (n.456+16T>A) n.1157+16T>A c.469-767T>A (n.469-767T>A) c.276+16T>A (n.276+16T>A) c.645+16T>A (n.645+16T>A) c.468+16T>A (n.468+16T>A) c.465+16T>A (n.465+16T>A) c.297+16T>A (n.297+16T>A) | dbSNP |
| 11 | g.67490230T>G | CA2614623437 | AIP | c.622+16T>G c.456+16T>G (n.456+16T>G) n.1157+16T>G c.469-767T>G (n.469-767T>G) c.276+16T>G (n.276+16T>G) c.645+16T>G (n.645+16T>G) c.468+16T>G (n.468+16T>G) c.465+16T>G (n.465+16T>G) c.297+16T>G (n.297+16T>G) | gnomAD v4 |
| 11 | g.67490230T= | CA1980172356 | AIP | c.622+16T= c.456+16T= (n.456+16T=) n.1157+16T= c.469-767T= (n.469-767T=) c.276+16T= (n.276+16T=) c.645+16T= (n.645+16T=) c.468+16T= (n.468+16T=) c.465+16T= (n.465+16T=) c.297+16T= (n.297+16T=) | |
| 11 | g.67490232_67490243del | CA2580084740 | AIP | c.622+18_622+29del c.456+18_456+29del (n.456+18_456+29del) n.1157+18_1157+29del c.469-765_469-754del (n.469-765_469-754del) c.276+18_276+29del (n.276+18_276+29del) c.645+18_645+29del (n.645+18_645+29del) c.468+18_468+29del (n.468+18_468+29del) c.465+18_465+29del (n.465+18_465+29del) c.297+18_297+29del (n.297+18_297+29del) | ClinVar gnomAD v4 |
| 11 | g.67490232_67490233del | CA2573147634 | AIP | c.622+18_622+19del c.456+18_456+19del (n.456+18_456+19del) n.1157+18_1157+19del c.469-765_469-764del (n.469-765_469-764del) c.276+18_276+19del (n.276+18_276+19del) c.645+18_645+19del (n.645+18_645+19del) c.468+18_468+19del (n.468+18_468+19del) c.465+18_465+19del (n.465+18_465+19del) c.297+18_297+19del (n.297+18_297+19del) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490233G>C | CA2614623440 | AIP | c.622+19G>C c.456+19G>C (n.456+19G>C) n.1157+19G>C c.469-764G>C (n.469-764G>C) c.276+19G>C (n.276+19G>C) c.645+19G>C (n.645+19G>C) c.468+19G>C (n.468+19G>C) c.465+19G>C (n.465+19G>C) c.297+19G>C (n.297+19G>C) | ClinVar gnomAD v4 |
| 11 | g.67490233G>T | CA2614623441 | AIP | c.622+19G>T c.456+19G>T (n.456+19G>T) n.1157+19G>T c.469-764G>T (n.469-764G>T) c.276+19G>T (n.276+19G>T) c.645+19G>T (n.645+19G>T) c.468+19G>T (n.468+19G>T) c.465+19G>T (n.465+19G>T) c.297+19G>T (n.297+19G>T) | gnomAD v4 |
| 11 | g.67490237dup | CA2580084741 | AIP | c.622+23dup c.456+23dup (n.456+23dup) n.1157+23dup c.469-760dup (n.469-760dup) c.276+23dup (n.276+23dup) c.645+23dup (n.645+23dup) c.468+23dup (n.468+23dup) c.465+23dup (n.465+23dup) c.297+23dup (n.297+23dup) | ClinVar |
| 11 | g.67490237del | CA2614623442 | AIP | c.622+23del c.456+23del (n.456+23del) n.1157+23del c.469-760del (n.469-760del) c.276+23del (n.276+23del) c.645+23del (n.645+23del) c.468+23del (n.468+23del) c.465+23del (n.465+23del) c.297+23del (n.297+23del) | gnomAD v4 |
| 11 | g.67490234G>A | CA600236225 | AIP | c.622+20G>A c.456+20G>A (n.456+20G>A) n.1157+20G>A c.469-763G>A (n.469-763G>A) c.276+20G>A (n.276+20G>A) c.645+20G>A (n.645+20G>A) c.468+20G>A (n.468+20G>A) c.465+20G>A (n.465+20G>A) c.297+20G>A (n.297+20G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490234G>C | CA2614623444 | AIP | c.622+20G>C c.456+20G>C (n.456+20G>C) n.1157+20G>C c.469-763G>C (n.469-763G>C) c.276+20G>C (n.276+20G>C) c.645+20G>C (n.645+20G>C) c.468+20G>C (n.468+20G>C) c.465+20G>C (n.465+20G>C) c.297+20G>C (n.297+20G>C) | ClinVar gnomAD v4 |
| 11 | g.67490234G= | CA1980172358 | AIP | c.622+20G= c.456+20G= (n.456+20G=) n.1157+20G= c.469-763G= (n.469-763G=) c.276+20G= (n.276+20G=) c.645+20G= (n.645+20G=) c.468+20G= (n.468+20G=) c.465+20G= (n.465+20G=) c.297+20G= (n.297+20G=) | |
| 11 | g.67490234G>T | CA600236226 | AIP | c.622+20G>T c.456+20G>T (n.456+20G>T) n.1157+20G>T c.469-763G>T (n.469-763G>T) c.276+20G>T (n.276+20G>T) c.645+20G>T (n.645+20G>T) c.468+20G>T (n.468+20G>T) c.465+20G>T (n.465+20G>T) c.297+20G>T (n.297+20G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490235G>A | CA679494039 | AIP | c.622+21G>A c.456+21G>A (n.456+21G>A) n.1157+21G>A c.469-762G>A (n.469-762G>A) c.276+21G>A (n.276+21G>A) c.645+21G>A (n.645+21G>A) c.468+21G>A (n.468+21G>A) c.465+21G>A (n.465+21G>A) c.297+21G>A (n.297+21G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.67490235G= | CA1980172359 | AIP | c.622+21G= c.456+21G= (n.456+21G=) n.1157+21G= c.469-762G= (n.469-762G=) c.276+21G= (n.276+21G=) c.645+21G= (n.645+21G=) c.468+21G= (n.468+21G=) c.465+21G= (n.465+21G=) c.297+21G= (n.297+21G=) | |
| 11 | g.67490237G>A | CA6140885 | AIP | c.622+23G>A c.456+23G>A (n.456+23G>A) n.1157+23G>A c.469-760G>A (n.469-760G>A) c.276+23G>A (n.276+23G>A) c.645+23G>A (n.645+23G>A) c.468+23G>A (n.468+23G>A) c.465+23G>A (n.465+23G>A) c.297+23G>A (n.297+23G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490237G= | CA1980172360 | AIP | c.622+23G= c.456+23G= (n.456+23G=) n.1157+23G= c.469-760G= (n.469-760G=) c.276+23G= (n.276+23G=) c.645+23G= (n.645+23G=) c.468+23G= (n.468+23G=) c.465+23G= (n.465+23G=) c.297+23G= (n.297+23G=) | |
| 11 | g.67490239G>C | CA224165136 | AIP | c.622+25G>C c.456+25G>C (n.456+25G>C) n.1157+25G>C c.469-758G>C (n.469-758G>C) c.276+25G>C (n.276+25G>C) c.645+25G>C (n.645+25G>C) c.468+25G>C (n.468+25G>C) c.465+25G>C (n.465+25G>C) c.297+25G>C (n.297+25G>C) | dbSNP gnomAD v4 |
| 11 | g.67490239G= | CA1980172361 | AIP | c.622+25G= c.456+25G= (n.456+25G=) n.1157+25G= c.469-758G= (n.469-758G=) c.276+25G= (n.276+25G=) c.645+25G= (n.645+25G=) c.468+25G= (n.468+25G=) c.465+25G= (n.465+25G=) c.297+25G= (n.297+25G=) |