| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.67490134T>A | CA381550861 | AIP | c.542T>A c.376T>A (p.Leu126Met) n.1077T>A c.468+679T>A (n.468+679T>A) c.196T>A (p.Leu66Met) c.565T>A (p.Leu189Met) c.388T>A (p.Leu130Met) c.385T>A (p.Leu129Met) c.217T>A (p.Leu73Met) | |
| 11 | g.67490134T>C | CA475509199 | AIP | c.542T>C c.376T>C (p.Leu126=) n.1077T>C c.468+679T>C (n.468+679T>C) c.196T>C (p.Leu66=) c.565T>C (p.Leu189=) c.388T>C (p.Leu130=) c.385T>C (p.Leu129=) c.217T>C (p.Leu73=) | |
| 11 | g.67490134T>G | CA381550863 | AIP | c.542T>G c.376T>G (p.Leu126Val) n.1077T>G c.468+679T>G (n.468+679T>G) c.196T>G (p.Leu66Val) c.565T>G (p.Leu189Val) c.388T>G (p.Leu130Val) c.385T>G (p.Leu129Val) c.217T>G (p.Leu73Val) | |
| 11 | g.67490135T>A | CA381550867 | AIP | c.543T>A c.377T>A (p.Leu126Ter) n.1078T>A c.468+680T>A (n.468+680T>A) c.197T>A (p.Leu66Ter) c.566T>A (p.Leu189Ter) c.389T>A (p.Leu130Ter) c.386T>A (p.Leu129Ter) c.218T>A (p.Leu73Ter) | |
| 11 | g.67490135T>C | CA381550872 | AIP | c.543T>C c.377T>C (p.Leu126Ser) n.1078T>C c.468+680T>C (n.468+680T>C) c.197T>C (p.Leu66Ser) c.566T>C (p.Leu189Ser) c.389T>C (p.Leu130Ser) c.386T>C (p.Leu129Ser) c.218T>C (p.Leu73Ser) | |
| 11 | g.67490135T>G | CA381550869 | AIP | c.543T>G c.377T>G (p.Leu126Trp) n.1078T>G c.468+680T>G (n.468+680T>G) c.197T>G (p.Leu66Trp) c.566T>G (p.Leu189Trp) c.389T>G (p.Leu130Trp) c.386T>G (p.Leu129Trp) c.218T>G (p.Leu73Trp) | |
| 11 | g.67490135_67490136insTC | CA2507801261 | AIP | c.543_544insTC c.377_378insTC (p.Leu126PhefsTer8) n.1078_1079insTC c.468+680_468+681insTC (n.468+680_468+681insTC) c.197_198insTC (p.Leu66PhefsTer8) c.566_567insTC (p.Leu189PhefsTer8) c.389_390insTC (p.Leu130PhefsTer8) c.386_387insTC (p.Leu129PhefsTer8) c.218_219insTC (p.Leu73PhefsTer8) | |
| 11 | g.67490136G>A | CA475509202 | AIP | c.544G>A c.378G>A (p.Leu126=) n.1079G>A c.468+681G>A (n.468+681G>A) c.198G>A (p.Leu66=) c.567G>A (p.Leu189=) c.390G>A (p.Leu130=) c.387G>A (p.Leu129=) c.219G>A (p.Leu73=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490136G>C | CA6140870 | AIP | c.544G>C c.378G>C (p.Leu126Phe) n.1079G>C c.468+681G>C (n.468+681G>C) c.198G>C (p.Leu66Phe) c.567G>C (p.Leu189Phe) c.390G>C (p.Leu130Phe) c.387G>C (p.Leu129Phe) c.219G>C (p.Leu73Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.67490136G= | CA1980172313 | AIP | c.544G= c.378G= (p.Leu126=) n.1079G= c.468+681G= (n.468+681G=) c.198G= (p.Leu66=) c.567G= (p.Leu189=) c.390G= (p.Leu130=) c.387G= (p.Leu129=) c.219G= (p.Leu73=) | |
| 11 | g.67490136G>T | CA381550878 | AIP | c.544G>T c.378G>T (p.Leu126Phe) n.1079G>T c.468+681G>T (n.468+681G>T) c.198G>T (p.Leu66Phe) c.567G>T (p.Leu189Phe) c.390G>T (p.Leu130Phe) c.387G>T (p.Leu129Phe) c.219G>T (p.Leu73Phe) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490137T>A | CA381550883 | AIP | c.545T>A c.379T>A (p.Tyr127Asn) n.1080T>A c.468+682T>A (n.468+682T>A) c.199T>A (p.Tyr67Asn) c.568T>A (p.Tyr190Asn) c.391T>A (p.Tyr131Asn) c.388T>A (p.Tyr130Asn) c.220T>A (p.Tyr74Asn) | |
| 11 | g.67490137T>C | CA381550885 | AIP | c.545T>C c.379T>C (p.Tyr127His) n.1080T>C c.468+682T>C (n.468+682T>C) c.199T>C (p.Tyr67His) c.568T>C (p.Tyr190His) c.391T>C (p.Tyr131His) c.388T>C (p.Tyr130His) c.220T>C (p.Tyr74His) | |
| 11 | g.67490137T>G | CA381550889 | AIP | c.545T>G c.379T>G (p.Tyr127Asp) n.1080T>G c.468+682T>G (n.468+682T>G) c.199T>G (p.Tyr67Asp) c.568T>G (p.Tyr190Asp) c.391T>G (p.Tyr131Asp) c.388T>G (p.Tyr130Asp) c.220T>G (p.Tyr74Asp) | |
| 11 | g.67490138A>C | CA381550893 | AIP | c.546A>C c.380A>C (p.Tyr127Ser) n.1081A>C c.468+683A>C (n.468+683A>C) c.200A>C (p.Tyr67Ser) c.569A>C (p.Tyr190Ser) c.392A>C (p.Tyr131Ser) c.389A>C (p.Tyr130Ser) c.221A>C (p.Tyr74Ser) | |
| 11 | g.67490138A>G | CA381550895 | AIP | c.546A>G c.380A>G (p.Tyr127Cys) n.1081A>G c.468+683A>G (n.468+683A>G) c.200A>G (p.Tyr67Cys) c.569A>G (p.Tyr190Cys) c.392A>G (p.Tyr131Cys) c.389A>G (p.Tyr130Cys) c.221A>G (p.Tyr74Cys) | |
| 11 | g.67490138A>T | CA381550898 | AIP | c.546A>T c.380A>T (p.Tyr127Phe) n.1081A>T c.468+683A>T (n.468+683A>T) c.200A>T (p.Tyr67Phe) c.569A>T (p.Tyr190Phe) c.392A>T (p.Tyr131Phe) c.389A>T (p.Tyr130Phe) c.221A>T (p.Tyr74Phe) | |
| 11 | g.67490139C>A | CA381550900 | AIP | c.547C>A c.381C>A (p.Tyr127Ter) n.1082C>A c.468+684C>A (n.468+684C>A) c.201C>A (p.Tyr67Ter) c.570C>A (p.Tyr190Ter) c.393C>A (p.Tyr131Ter) c.390C>A (p.Tyr130Ter) c.222C>A (p.Tyr74Ter) | |
| 11 | g.67490139C= | CA1980172314 | AIP | c.547C= c.381C= (p.Tyr127=) n.1082C= c.468+684C= (n.468+684C=) c.201C= (p.Tyr67=) c.570C= (p.Tyr190=) c.393C= (p.Tyr131=) c.390C= (p.Tyr130=) c.222C= (p.Tyr74=) | |
| 11 | g.67490139C>G | CA381550902 | AIP | c.547C>G c.381C>G (p.Tyr127Ter) n.1082C>G c.468+684C>G (n.468+684C>G) c.201C>G (p.Tyr67Ter) c.570C>G (p.Tyr190Ter) c.393C>G (p.Tyr131Ter) c.390C>G (p.Tyr130Ter) c.222C>G (p.Tyr74Ter) | |
| 11 | g.67490139C>T | CA475509204 | AIP | c.547C>T c.381C>T (p.Tyr127=) n.1082C>T c.468+684C>T (n.468+684C>T) c.201C>T (p.Tyr67=) c.570C>T (p.Tyr190=) c.393C>T (p.Tyr131=) c.390C>T (p.Tyr130=) c.222C>T (p.Tyr74=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 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 |