| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.67490836_67490837insCCCAGCGGCCGTGTG | CA600236229 | AIP | c.1143_1144insCCCAGCGGCCGTGTG c.647_648insCCCAGCGGCCGTGTG (p.Val215_Trp216insCysProAlaAlaVal) n.1678_1679insCCCAGCGGCCGTGTG c.469-161_469-160insCCCAGCGGCCGTGTG (n.469-161_469-160insCCCAGCGGCCGTGTG) c.467_468insCCCAGCGGCCGTGTG (p.Val155_Trp156insCysProAlaAlaVal) c.836_837insCCCAGCGGCCGTGTG (p.Val278_Trp279insCysProAlaAlaVal) c.828_829insCCCAGCGGCCGTGTG (p.Val276_Glu277insProSerGlyArgVal) c.659_660insCCCAGCGGCCGTGTG (p.Val219_Trp220insCysProAlaAlaVal) c.825_826insCCCAGCGGCCGTGTG (p.Val275_Glu276insProSerGlyArgVal) c.656_657insCCCAGCGGCCGTGTG (p.Val218_Trp219insCysProAlaAlaVal) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490829G>A | CA381554627 | AIP | c.1136G>A c.640G>A (p.Ala214Thr) n.1671G>A c.469-168G>A (n.469-168G>A) c.460G>A (p.Ala154Thr) c.829G>A (p.Ala277Thr) c.821G>A (p.Gly274Asp) c.652G>A (p.Ala218Thr) c.818G>A (p.Gly273Asp) c.649G>A (p.Ala217Thr) | |
| 11 | g.67490829G>C | CA344205 | AIP | c.1136G>C c.640G>C (p.Ala214Pro) n.1671G>C c.469-168G>C (n.469-168G>C) c.460G>C (p.Ala154Pro) c.829G>C (p.Ala277Pro) c.821G>C (p.Gly274Ala) c.652G>C (p.Ala218Pro) c.818G>C (p.Gly273Ala) c.649G>C (p.Ala217Pro) | ClinVar dbSNP |
| 11 | g.67490829G= | CA1980172655 | AIP | c.1136G= c.640G= (p.Ala214=) n.1671G= c.469-168G= (n.469-168G=) c.460G= (p.Ala154=) c.829G= (p.Ala277=) c.821G= (p.Gly274=) c.652G= (p.Ala218=) c.818G= (p.Gly273=) c.649G= (p.Ala217=) | |
| 11 | g.67490829G>T | CA381554635 | AIP | c.1136G>T c.640G>T (p.Ala214Ser) n.1671G>T c.469-168G>T (n.469-168G>T) c.460G>T (p.Ala154Ser) c.829G>T (p.Ala277Ser) c.821G>T (p.Gly274Val) c.652G>T (p.Ala218Ser) c.818G>T (p.Gly273Val) c.649G>T (p.Ala217Ser) | |
| 11 | g.67490830C>A | CA381554639 | AIP | c.1137C>A c.641C>A (p.Ala214Asp) n.1672C>A c.469-167C>A (n.469-167C>A) c.461C>A (p.Ala154Asp) c.830C>A (p.Ala277Asp) c.822C>A (p.Gly274=) c.653C>A (p.Ala218Asp) c.819C>A (p.Gly273=) c.650C>A (p.Ala217Asp) | COSMIC |
| 11 | g.67490830C= | CA1980172656 | AIP | c.1137C= c.641C= (p.Ala214=) n.1672C= c.469-167C= (n.469-167C=) c.461C= (p.Ala154=) c.830C= (p.Ala277=) c.822C= (p.Gly274=) c.653C= (p.Ala218=) c.819C= (p.Gly273=) c.650C= (p.Ala217=) | |
| 11 | g.67490830C>G | CA381554642 | AIP | c.1137C>G c.641C>G (p.Ala214Gly) n.1672C>G c.469-167C>G (n.469-167C>G) c.461C>G (p.Ala154Gly) c.830C>G (p.Ala277Gly) c.822C>G (p.Gly274=) c.653C>G (p.Ala218Gly) c.819C>G (p.Gly273=) c.650C>G (p.Ala217Gly) | |
| 11 | g.67490830C>T | CA381554648 | AIP | c.1137C>T c.641C>T (p.Ala214Val) n.1672C>T c.469-167C>T (n.469-167C>T) c.461C>T (p.Ala154Val) c.830C>T (p.Ala277Val) c.822C>T (p.Gly274=) c.653C>T (p.Ala218Val) c.819C>T (p.Gly273=) c.650C>T (p.Ala217Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490831C>A | CA475509485 | AIP | c.1138C>A c.642C>A (p.Ala214=) n.1673C>A c.469-166C>A (n.469-166C>A) c.462C>A (p.Ala154=) c.831C>A (p.Ala277=) c.823C>A (p.Arg275Ser) c.654C>A (p.Ala218=) c.820C>A (p.Arg274Ser) c.651C>A (p.Ala217=) | |
| 11 | g.67490831C= | CA1980172657 | AIP | c.1138C= c.642C= (p.Ala214=) n.1673C= c.469-166C= (n.469-166C=) c.462C= (p.Ala154=) c.831C= (p.Ala277=) c.823C= (p.Arg275=) c.654C= (p.Ala218=) c.820C= (p.Arg274=) c.651C= (p.Ala217=) | |
| 11 | g.67490831C>G | CA475509487 | AIP | c.1138C>G c.642C>G (p.Ala214=) n.1673C>G c.469-166C>G (n.469-166C>G) c.462C>G (p.Ala154=) c.831C>G (p.Ala277=) c.823C>G (p.Arg275Gly) c.654C>G (p.Ala218=) c.820C>G (p.Arg274Gly) c.651C>G (p.Ala217=) | |
| 11 | g.67490831C>T | CA6140988 | AIP | c.1138C>T c.642C>T (p.Ala214=) n.1673C>T c.469-166C>T (n.469-166C>T) c.462C>T (p.Ala154=) c.831C>T (p.Ala277=) c.823C>T (p.Arg275Cys) c.654C>T (p.Ala218=) c.820C>T (p.Arg274Cys) c.651C>T (p.Ala217=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490832G>A | CA6140989 | AIP | c.1139G>A c.643G>A (p.Val215Met) n.1674G>A c.469-165G>A (n.469-165G>A) c.463G>A (p.Val155Met) c.832G>A (p.Val278Met) c.824G>A (p.Arg275His) c.655G>A (p.Val219Met) c.821G>A (p.Arg274His) c.652G>A (p.Val218Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.67490832G>C | CA381554662 | AIP | c.1139G>C c.643G>C (p.Val215Leu) n.1674G>C c.469-165G>C (n.469-165G>C) c.463G>C (p.Val155Leu) c.832G>C (p.Val278Leu) c.824G>C (p.Arg275Pro) c.655G>C (p.Val219Leu) c.821G>C (p.Arg274Pro) c.652G>C (p.Val218Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.67490832G= | CA1980172658 | AIP | c.1139G= c.643G= (p.Val215=) n.1674G= c.469-165G= (n.469-165G=) c.463G= (p.Val155=) c.832G= (p.Val278=) c.824G= (p.Arg275=) c.655G= (p.Val219=) c.821G= (p.Arg274=) c.652G= (p.Val218=) | |
| 11 | g.67490832G>T | CA381554664 | AIP | c.1139G>T c.643G>T (p.Val215Leu) n.1674G>T c.469-165G>T (n.469-165G>T) c.463G>T (p.Val155Leu) c.832G>T (p.Val278Leu) c.824G>T (p.Arg275Leu) c.655G>T (p.Val219Leu) c.821G>T (p.Arg274Leu) c.652G>T (p.Val218Leu) | ClinVar dbSNP |
| 11 | g.67490833T>A | CA381554677 | AIP | c.1140T>A c.644T>A (p.Val215Glu) n.1675T>A c.469-164T>A (n.469-164T>A) c.464T>A (p.Val155Glu) c.833T>A (p.Val278Glu) c.825T>A (p.Arg275=) c.656T>A (p.Val219Glu) c.822T>A (p.Arg274=) c.653T>A (p.Val218Glu) | |
| 11 | g.67490833T>C | CA381554674 | AIP | c.1140T>C c.644T>C (p.Val215Ala) n.1675T>C c.469-164T>C (n.469-164T>C) c.464T>C (p.Val155Ala) c.833T>C (p.Val278Ala) c.825T>C (p.Arg275=) c.656T>C (p.Val219Ala) c.822T>C (p.Arg274=) c.653T>C (p.Val218Ala) | |
| 11 | g.67490833T>G | CA224165894 | AIP | c.1140T>G c.644T>G (p.Val215Gly) n.1675T>G c.469-164T>G (n.469-164T>G) c.464T>G (p.Val155Gly) c.833T>G (p.Val278Gly) c.825T>G (p.Arg275=) c.656T>G (p.Val219Gly) c.822T>G (p.Arg274=) c.653T>G (p.Val218Gly) | dbSNP |
| 11 | g.67490833T= | CA1980172659 | AIP | c.1140T= c.644T= (p.Val215=) n.1675T= c.469-164T= (n.469-164T=) c.464T= (p.Val155=) c.833T= (p.Val278=) c.825T= (p.Arg275=) c.656T= (p.Val219=) c.822T= (p.Arg274=) c.653T= (p.Val218=) | |
| 11 | g.67490834G>A | CA6140990 | AIP | c.1141G>A c.645G>A (p.Val215=) n.1676G>A c.469-163G>A (n.469-163G>A) c.465G>A (p.Val155=) c.834G>A (p.Val278=) c.826G>A (p.Val276Met) c.657G>A (p.Val219=) c.823G>A (p.Val275Met) c.654G>A (p.Val218=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490834G>C | CA475509494 | AIP | c.1141G>C c.645G>C (p.Val215=) n.1676G>C c.469-163G>C (n.469-163G>C) c.465G>C (p.Val155=) c.834G>C (p.Val278=) c.826G>C (p.Val276Leu) c.657G>C (p.Val219=) c.823G>C (p.Val275Leu) c.654G>C (p.Val218=) | |
| 11 | g.67490834G= | CA1980172660 | AIP | c.1141G= c.645G= (p.Val215=) n.1676G= c.469-163G= (n.469-163G=) c.465G= (p.Val155=) c.834G= (p.Val278=) c.826G= (p.Val276=) c.657G= (p.Val219=) c.823G= (p.Val275=) c.654G= (p.Val218=) | |
| 11 | g.67490834G>T | CA475509495 | AIP | c.1141G>T c.645G>T (p.Val215=) n.1676G>T c.469-163G>T (n.469-163G>T) c.465G>T (p.Val155=) c.834G>T (p.Val278=) c.826G>T (p.Val276Leu) c.657G>T (p.Val219=) c.823G>T (p.Val275Leu) c.654G>T (p.Val218=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490835T>A | CA381554685 | AIP | c.1142T>A c.646T>A (p.Trp216Arg) n.1677T>A c.469-162T>A (n.469-162T>A) c.466T>A (p.Trp156Arg) c.835T>A (p.Trp279Arg) c.827T>A (p.Val276Glu) c.658T>A (p.Trp220Arg) c.824T>A (p.Val275Glu) c.655T>A (p.Trp219Arg) | |
| 11 | g.67490835T>C | CA381554690 | AIP | c.1142T>C c.646T>C (p.Trp216Arg) n.1677T>C c.469-162T>C (n.469-162T>C) c.466T>C (p.Trp156Arg) c.835T>C (p.Trp279Arg) c.827T>C (p.Val276Ala) c.658T>C (p.Trp220Arg) c.824T>C (p.Val275Ala) c.655T>C (p.Trp219Arg) | |
| 11 | g.67490835T>G | CA381554689 | AIP | c.1142T>G c.646T>G (p.Trp216Gly) n.1677T>G c.469-162T>G (n.469-162T>G) c.466T>G (p.Trp156Gly) c.835T>G (p.Trp279Gly) c.827T>G (p.Val276Gly) c.658T>G (p.Trp220Gly) c.824T>G (p.Val275Gly) c.655T>G (p.Trp219Gly) | |
| 11 | g.67490836G>A | CA381554692 | AIP | c.1143G>A c.647G>A (p.Trp216Ter) n.1678G>A c.469-161G>A (n.469-161G>A) c.467G>A (p.Trp156Ter) c.836G>A (p.Trp279Ter) c.828G>A (p.Val276=) c.659G>A (p.Trp220Ter) c.825G>A (p.Val275=) c.656G>A (p.Trp219Ter) | dbSNP |
| 11 | g.67490836G>C | CA381554695 | AIP | c.1143G>C c.647G>C (p.Trp216Ser) n.1678G>C c.469-161G>C (n.469-161G>C) c.467G>C (p.Trp156Ser) c.836G>C (p.Trp279Ser) c.828G>C (p.Val276=) c.659G>C (p.Trp220Ser) c.825G>C (p.Val275=) c.656G>C (p.Trp219Ser) | |
| 11 | g.67490836G= | CA1980172661 | AIP | c.1143G= c.647G= (p.Trp216=) n.1678G= c.469-161G= (n.469-161G=) c.467G= (p.Trp156=) c.836G= (p.Trp279=) c.828G= (p.Val276=) c.659G= (p.Trp220=) c.825G= (p.Val275=) c.656G= (p.Trp219=) | |
| 11 | g.67490836G>T | CA381554696 | AIP | c.1143G>T c.647G>T (p.Trp216Leu) n.1678G>T c.469-161G>T (n.469-161G>T) c.467G>T (p.Trp156Leu) c.836G>T (p.Trp279Leu) c.828G>T (p.Val276=) c.659G>T (p.Trp220Leu) c.825G>T (p.Val275=) c.656G>T (p.Trp219Leu) | |
| 11 | g.67490837G>A | CA381554701 | AIP | c.1144G>A c.648G>A (p.Trp216Ter) n.1679G>A c.469-160G>A (n.469-160G>A) c.468G>A (p.Trp156Ter) c.837G>A (p.Trp279Ter) c.829G>A (p.Glu277Lys) c.660G>A (p.Trp220Ter) c.826G>A (p.Glu276Lys) c.657G>A (p.Trp219Ter) | |
| 11 | g.67490837G>C | CA381554704 | AIP | c.1144G>C c.648G>C (p.Trp216Cys) n.1679G>C c.469-160G>C (n.469-160G>C) c.468G>C (p.Trp156Cys) c.837G>C (p.Trp279Cys) c.829G>C (p.Glu277Gln) c.660G>C (p.Trp220Cys) c.826G>C (p.Glu276Gln) c.657G>C (p.Trp219Cys) | |
| 11 | g.67490837G>T | CA381554706 | AIP | c.1144G>T c.648G>T (p.Trp216Cys) n.1679G>T c.469-160G>T (n.469-160G>T) c.468G>T (p.Trp156Cys) c.837G>T (p.Trp279Cys) c.829G>T (p.Glu277Ter) c.660G>T (p.Trp220Cys) c.826G>T (p.Glu276Ter) c.657G>T (p.Trp219Cys) | |
| 11 | g.67490838A>C | CA381554711 | AIP | c.1145A>C c.649A>C (p.Asn217His) n.1680A>C c.469-159A>C (n.469-159A>C) c.469A>C (p.Asn157His) c.838A>C (p.Asn280His) c.830A>C (p.Glu277Ala) c.661A>C (p.Asn221His) c.827A>C (p.Glu276Ala) c.658A>C (p.Asn220His) | |
| 11 | g.67490838A>G | CA381554714 | AIP | c.1145A>G c.649A>G (p.Asn217Asp) n.1680A>G c.469-159A>G (n.469-159A>G) c.469A>G (p.Asn157Asp) c.838A>G (p.Asn280Asp) c.830A>G (p.Glu277Gly) c.661A>G (p.Asn221Asp) c.827A>G (p.Glu276Gly) c.658A>G (p.Asn220Asp) | |
| 11 | g.67490838A>T | CA381554715 | AIP | c.1145A>T c.649A>T (p.Asn217Tyr) n.1680A>T c.469-159A>T (n.469-159A>T) c.469A>T (p.Asn157Tyr) c.838A>T (p.Asn280Tyr) c.830A>T (p.Glu277Val) c.661A>T (p.Asn221Tyr) c.827A>T (p.Glu276Val) c.658A>T (p.Asn220Tyr) | |
| 11 | g.67490839A>C | CA381554719 | AIP | c.1146A>C c.650A>C (p.Asn217Thr) n.1681A>C c.469-158A>C (n.469-158A>C) c.470A>C (p.Asn157Thr) c.839A>C (p.Asn280Thr) c.831A>C (p.Glu277Asp) c.662A>C (p.Asn221Thr) c.828A>C (p.Glu276Asp) c.659A>C (p.Asn220Thr) | |
| 11 | g.67490839A>G | CA381554722 | AIP | c.1146A>G c.650A>G (p.Asn217Ser) n.1681A>G c.469-158A>G (n.469-158A>G) c.470A>G (p.Asn157Ser) c.839A>G (p.Asn280Ser) c.831A>G (p.Glu277=) c.662A>G (p.Asn221Ser) c.828A>G (p.Glu276=) c.659A>G (p.Asn220Ser) | ClinVar |
| 11 | g.67490839A>T | CA381554725 | AIP | c.1146A>T c.650A>T (p.Asn217Ile) n.1681A>T c.469-158A>T (n.469-158A>T) c.470A>T (p.Asn157Ile) c.839A>T (p.Asn280Ile) c.831A>T (p.Glu277Asp) c.662A>T (p.Asn221Ile) c.828A>T (p.Glu276Asp) c.659A>T (p.Asn220Ile) | |
| 11 | g.67490840T>A | CA381554731 | AIP | c.1147T>A c.651T>A (p.Asn217Lys) n.1682T>A c.469-157T>A (n.469-157T>A) c.471T>A (p.Asn157Lys) c.840T>A (p.Asn280Lys) c.832T>A (p.Cys278Ser) c.663T>A (p.Asn221Lys) c.829T>A (p.Cys277Ser) c.660T>A (p.Asn220Lys) | |
| 11 | g.67490840T>C | CA475509502 | AIP | c.1147T>C c.651T>C (p.Asn217=) n.1682T>C c.469-157T>C (n.469-157T>C) c.471T>C (p.Asn157=) c.840T>C (p.Asn280=) c.832T>C (p.Cys278Arg) c.663T>C (p.Asn221=) c.829T>C (p.Cys277Arg) c.660T>C (p.Asn220=) | |
| 11 | g.67490840T>G | CA381554729 | AIP | c.1147T>G c.651T>G (p.Asn217Lys) n.1682T>G c.469-157T>G (n.469-157T>G) c.471T>G (p.Asn157Lys) c.840T>G (p.Asn280Lys) c.832T>G (p.Cys278Gly) c.663T>G (p.Asn221Lys) c.829T>G (p.Cys277Gly) c.660T>G (p.Asn220Lys) | |
| 11 | g.67490841G>A | CA381554735 | AIP | c.1148G>A c.652G>A (p.Ala218Thr) n.1683G>A c.469-156G>A (n.469-156G>A) c.472G>A (p.Ala158Thr) c.841G>A (p.Ala281Thr) c.833G>A (p.Cys278Tyr) c.664G>A (p.Ala222Thr) c.830G>A (p.Cys277Tyr) c.661G>A (p.Ala221Thr) | |
| 11 | g.67490841G>C | CA381554737 | AIP | c.1148G>C c.652G>C (p.Ala218Pro) n.1683G>C c.469-156G>C (n.469-156G>C) c.472G>C (p.Ala158Pro) c.841G>C (p.Ala281Pro) c.833G>C (p.Cys278Ser) c.664G>C (p.Ala222Pro) c.830G>C (p.Cys277Ser) c.661G>C (p.Ala221Pro) | |
| 11 | g.67490841G>T | CA381554740 | AIP | c.1148G>T c.652G>T (p.Ala218Ser) n.1683G>T c.469-156G>T (n.469-156G>T) c.472G>T (p.Ala158Ser) c.841G>T (p.Ala281Ser) c.833G>T (p.Cys278Phe) c.664G>T (p.Ala222Ser) c.830G>T (p.Cys277Phe) c.661G>T (p.Ala221Ser) | |
| 11 | g.67490842C>A | CA381554743 | AIP | c.1149C>A c.653C>A (p.Ala218Asp) n.1684C>A c.469-155C>A (n.469-155C>A) c.473C>A (p.Ala158Asp) c.842C>A (p.Ala281Asp) c.834C>A (p.Cys278Ter) c.665C>A (p.Ala222Asp) c.831C>A (p.Cys277Ter) c.662C>A (p.Ala221Asp) | |
| 11 | g.67490842C= | CA1980172662 | AIP | c.1149C= c.653C= (p.Ala218=) n.1684C= c.469-155C= (n.469-155C=) c.473C= (p.Ala158=) c.842C= (p.Ala281=) c.834C= (p.Cys278=) c.665C= (p.Ala222=) c.831C= (p.Cys277=) c.662C= (p.Ala221=) | |
| 11 | g.67490842C>G | CA381554746 | AIP | c.1149C>G c.653C>G (p.Ala218Gly) n.1684C>G c.469-155C>G (n.469-155C>G) c.473C>G (p.Ala158Gly) c.842C>G (p.Ala281Gly) c.834C>G (p.Cys278Trp) c.665C>G (p.Ala222Gly) c.831C>G (p.Cys277Trp) c.662C>G (p.Ala221Gly) |