| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.67490805_67490825dup | CA344192 | AIP | c.1112_1132dup c.616_636dup (p.His212_Ala213insPheLysArgGlyLysAlaHis) n.1647_1667dup c.469-192_469-172dup (n.469-192_469-172dup) c.436_456dup (p.His152_Ala153insPheLysArgGlyLysAlaHis) c.805_825dup (p.His275_Ala276insPheLysArgGlyLysAlaHis) c.797_817dup (p.Pro272_Arg273insLeuGlnAlaGlyGlnGlyPro) c.628_648dup (p.His216_Ala217insPheLysArgGlyLysAlaHis) c.794_814dup (p.Pro271_Arg272insLeuGlnAlaGlyGlnGlyPro) c.625_645dup (p.His215_Ala216insPheLysArgGlyLysAlaHis) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490824A>C | CA381554561 | AIP | c.1131A>C c.635A>C (p.His212Pro) n.1666A>C c.469-173A>C (n.469-173A>C) c.455A>C (p.His152Pro) c.824A>C (p.His275Pro) c.816A>C (p.Pro272=) c.647A>C (p.His216Pro) c.813A>C (p.Pro271=) c.644A>C (p.His215Pro) | |
| 11 | g.67490824A>G | CA381554575 | AIP | c.1131A>G c.635A>G (p.His212Arg) n.1666A>G c.469-173A>G (n.469-173A>G) c.455A>G (p.His152Arg) c.824A>G (p.His275Arg) c.816A>G (p.Pro272=) c.647A>G (p.His216Arg) c.813A>G (p.Pro271=) c.644A>G (p.His215Arg) | |
| 11 | g.67490824A>T | CA381554579 | AIP | c.1131A>T c.635A>T (p.His212Leu) n.1666A>T c.469-173A>T (n.469-173A>T) c.455A>T (p.His152Leu) c.824A>T (p.His275Leu) c.816A>T (p.Pro272=) c.647A>T (p.His216Leu) c.813A>T (p.Pro271=) c.644A>T (p.His215Leu) | |
| 11 | g.67490824dup | CA340306 | AIP | c.1131dup c.635dup (p.His212GlnfsTer13) n.1666dup c.469-173dup (n.469-173dup) c.455dup (p.His152GlnfsTer13) c.824dup (p.His275GlnfsTer13) c.816dup (p.Arg273ThrfsTer28) c.647dup (p.His216GlnfsTer13) c.813dup (p.Arg272ThrfsTer28) c.644dup (p.His215GlnfsTer13) | ClinVar dbSNP |
| 11 | g.67490825C>A | CA381554585 | AIP | c.1132C>A c.636C>A (p.His212Gln) n.1667C>A c.469-172C>A (n.469-172C>A) c.456C>A (p.His152Gln) c.825C>A (p.His275Gln) c.817C>A (p.Arg273Ser) c.648C>A (p.His216Gln) c.814C>A (p.Arg272Ser) c.645C>A (p.His215Gln) | |
| 11 | g.67490825C= | CA1980172651 | AIP | c.1132C= c.636C= (p.His212=) n.1667C= c.469-172C= (n.469-172C=) c.456C= (p.His152=) c.825C= (p.His275=) c.817C= (p.Arg273=) c.648C= (p.His216=) c.814C= (p.Arg272=) c.645C= (p.His215=) | |
| 11 | g.67490825C>G | CA381554594 | AIP | c.1132C>G c.636C>G (p.His212Gln) n.1667C>G c.469-172C>G (n.469-172C>G) c.456C>G (p.His152Gln) c.825C>G (p.His275Gln) c.817C>G (p.Arg273Gly) c.648C>G (p.His216Gln) c.814C>G (p.Arg272Gly) c.645C>G (p.His215Gln) | gnomAD v4 |
| 11 | g.67490825C>T | CA6140985 | AIP | c.1132C>T c.636C>T (p.His212=) n.1667C>T c.469-172C>T (n.469-172C>T) c.456C>T (p.His152=) c.825C>T (p.His275=) c.817C>T (p.Arg273Cys) c.648C>T (p.His216=) c.814C>T (p.Arg272Cys) c.645C>T (p.His215=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490826G>A | CA6140986 | AIP | c.1133G>A c.637G>A (p.Ala213Thr) n.1668G>A c.469-171G>A (n.469-171G>A) c.457G>A (p.Ala153Thr) c.826G>A (p.Ala276Thr) c.818G>A (p.Arg273His) c.649G>A (p.Ala217Thr) c.815G>A (p.Arg272His) c.646G>A (p.Ala216Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.67490826G>C | CA381554609 | AIP | c.1133G>C c.637G>C (p.Ala213Pro) n.1668G>C c.469-171G>C (n.469-171G>C) c.457G>C (p.Ala153Pro) c.826G>C (p.Ala276Pro) c.818G>C (p.Arg273Pro) c.649G>C (p.Ala217Pro) c.815G>C (p.Arg272Pro) c.646G>C (p.Ala216Pro) | |
| 11 | g.67490826G= | CA1980172652 | AIP | c.1133G= c.637G= (p.Ala213=) n.1668G= c.469-171G= (n.469-171G=) c.457G= (p.Ala153=) c.826G= (p.Ala276=) c.818G= (p.Arg273=) c.649G= (p.Ala217=) c.815G= (p.Arg272=) c.646G= (p.Ala216=) | |
| 11 | g.67490826G>T | CA381554606 | AIP | c.1133G>T c.637G>T (p.Ala213Ser) n.1668G>T c.469-171G>T (n.469-171G>T) c.457G>T (p.Ala153Ser) c.826G>T (p.Ala276Ser) c.818G>T (p.Arg273Leu) c.649G>T (p.Ala217Ser) c.815G>T (p.Arg272Leu) c.646G>T (p.Ala216Ser) | |
| 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.67490827C>A | CA381554615 | AIP | c.1134C>A c.638C>A (p.Ala213Glu) n.1669C>A c.469-170C>A (n.469-170C>A) c.458C>A (p.Ala153Glu) c.827C>A (p.Ala276Glu) c.819C>A (p.Arg273=) c.650C>A (p.Ala217Glu) c.816C>A (p.Arg272=) c.647C>A (p.Ala216Glu) | dbSNP |
| 11 | g.67490827C= | CA1980172653 | AIP | c.1134C= c.638C= (p.Ala213=) n.1669C= c.469-170C= (n.469-170C=) c.458C= (p.Ala153=) c.827C= (p.Ala276=) c.819C= (p.Arg273=) c.650C= (p.Ala217=) c.816C= (p.Arg272=) c.647C= (p.Ala216=) | |
| 11 | g.67490827C>G | CA381554619 | AIP | c.1134C>G c.638C>G (p.Ala213Gly) n.1669C>G c.469-170C>G (n.469-170C>G) c.458C>G (p.Ala153Gly) c.827C>G (p.Ala276Gly) c.819C>G (p.Arg273=) c.650C>G (p.Ala217Gly) c.816C>G (p.Arg272=) c.647C>G (p.Ala216Gly) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490827C>T | CA6140987 | AIP | c.1134C>T c.638C>T (p.Ala213Val) n.1669C>T c.469-170C>T (n.469-170C>T) c.458C>T (p.Ala153Val) c.827C>T (p.Ala276Val) c.819C>T (p.Arg273=) c.650C>T (p.Ala217Val) c.816C>T (p.Arg272=) c.647C>T (p.Ala216Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490828G>A | CA475509478 | AIP | c.1135G>A c.639G>A (p.Ala213=) n.1670G>A c.469-169G>A (n.469-169G>A) c.459G>A (p.Ala153=) c.828G>A (p.Ala276=) c.820G>A (p.Gly274Ser) c.651G>A (p.Ala217=) c.817G>A (p.Gly273Ser) c.648G>A (p.Ala216=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490828G>C | CA475509479 | AIP | c.1135G>C c.639G>C (p.Ala213=) n.1670G>C c.469-169G>C (n.469-169G>C) c.459G>C (p.Ala153=) c.828G>C (p.Ala276=) c.820G>C (p.Gly274Arg) c.651G>C (p.Ala217=) c.817G>C (p.Gly273Arg) c.648G>C (p.Ala216=) | |
| 11 | g.67490828G= | CA1980172654 | AIP | c.1135G= c.639G= (p.Ala213=) n.1670G= c.469-169G= (n.469-169G=) c.459G= (p.Ala153=) c.828G= (p.Ala276=) c.820G= (p.Gly274=) c.651G= (p.Ala217=) c.817G= (p.Gly273=) c.648G= (p.Ala216=) | |
| 11 | g.67490828G>T | CA475509480 | AIP | c.1135G>T c.639G>T (p.Ala213=) n.1670G>T c.469-169G>T (n.469-169G>T) c.459G>T (p.Ala153=) c.828G>T (p.Ala276=) c.820G>T (p.Gly274Cys) c.651G>T (p.Ala217=) c.817G>T (p.Gly273Cys) c.648G>T (p.Ala216=) | |
| 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 |