Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.31816768G>A | CA363414157 | HSPA1A,HSPA1L | c.1012G>A (p.Gly338Arg) c.517G>A (p.Gly173Arg) c.-14+4245C>T (n.-14+4245C>T) | gnomAD v4 |
6 | g.31816768G>C | CA363414160 | HSPA1A,HSPA1L | c.1012G>C (p.Gly338Arg) c.517G>C (p.Gly173Arg) c.-14+4245C>G (n.-14+4245C>G) | |
6 | g.31816768G>T | CA363414163 | HSPA1A,HSPA1L | c.1012G>T (p.Gly338Trp) c.517G>T (p.Gly173Trp) c.-14+4245C>A (n.-14+4245C>A) | |
6 | g.31816769G>A | CA363414171 | HSPA1A,HSPA1L | c.1013G>A (p.Gly338Glu) c.518G>A (p.Gly173Glu) c.-14+4244C>T (n.-14+4244C>T) | |
6 | g.31816769G>C | CA363414168 | HSPA1A,HSPA1L | c.1013G>C (p.Gly338Ala) c.518G>C (p.Gly173Ala) c.-14+4244C>G (n.-14+4244C>G) | |
6 | g.31816769G>T | CA363414166 | HSPA1A,HSPA1L | c.1013G>T (p.Gly338Val) c.518G>T (p.Gly173Val) c.-14+4244C>A (n.-14+4244C>A) | |
6 | g.31816770G>A | CA449805900 | HSPA1A,HSPA1L | c.1014G>A (p.Gly338=) c.519G>A (p.Gly173=) c.-14+4243C>T (n.-14+4243C>T) | |
6 | g.31816770G>C | CA449805901 | HSPA1A,HSPA1L | c.1014G>C (p.Gly338=) c.519G>C (p.Gly173=) c.-14+4243C>G (n.-14+4243C>G) | |
6 | g.31816770G>T | CA449805902 | HSPA1A,HSPA1L | c.1014G>T (p.Gly338=) c.519G>T (p.Gly173=) c.-14+4243C>A (n.-14+4243C>A) | |
6 | g.31816771G>A | CA363414182 | HSPA1A,HSPA1L | c.1015G>A (p.Gly339Ser) c.520G>A (p.Gly174Ser) c.-14+4242C>T (n.-14+4242C>T) | |
6 | g.31816771G>C | CA363414176 | HSPA1A,HSPA1L | c.1015G>C (p.Gly339Arg) c.520G>C (p.Gly174Arg) c.-14+4242C>G (n.-14+4242C>G) | |
6 | g.31816771G>T | CA363414178 | HSPA1A,HSPA1L | c.1015G>T (p.Gly339Cys) c.520G>T (p.Gly174Cys) c.-14+4242C>A (n.-14+4242C>A) | |
6 | g.31816772G>A | CA363414186 | HSPA1A,HSPA1L | c.1016G>A (p.Gly339Asp) c.521G>A (p.Gly174Asp) c.-14+4241C>T (n.-14+4241C>T) | |
6 | g.31816772G>C | CA363414189 | HSPA1A,HSPA1L | c.1016G>C (p.Gly339Ala) c.521G>C (p.Gly174Ala) c.-14+4241C>G (n.-14+4241C>G) | |
6 | g.31816772G>T | CA363414198 | HSPA1A,HSPA1L | c.1016G>T (p.Gly339Val) c.521G>T (p.Gly174Val) c.-14+4241C>A (n.-14+4241C>A) | |
6 | g.31816772_31816773delinsGC | CA1619307534 | HSPA1A,HSPA1L | c.1016_1017delinsGC (p.Gly339=) c.521_522delinsGC (p.Gly174=) c.-14+4240_-14+4241delinsGC (n.-14+4240_-14+4241delinsGC) | |
6 | g.31816773del | CA566692216 | HSPA1A,HSPA1L | c.1017del (p.Ser340ProfsTer20) c.522del (p.Ser175ProfsTer20) c.-14+4240del (n.-14+4240del) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31816773C>A | CA449805910 | HSPA1A,HSPA1L | c.1017C>A (p.Gly339=) c.522C>A (p.Gly174=) c.-14+4240G>T (n.-14+4240G>T) | |
6 | g.31816773C>G | CA449805909 | HSPA1A,HSPA1L | c.1017C>G (p.Gly339=) c.522C>G (p.Gly174=) c.-14+4240G>C (n.-14+4240G>C) | |
6 | g.31816773C>T | CA449805908 | HSPA1A,HSPA1L | c.1017C>T (p.Gly339=) c.522C>T (p.Gly174=) c.-14+4240G>A (n.-14+4240G>A) | gnomAD v4 |
6 | g.31816774T>A | CA363414207 | HSPA1A,HSPA1L | c.1018T>A (p.Ser340Thr) c.523T>A (p.Ser175Thr) c.-14+4239A>T (n.-14+4239A>T) | |
6 | g.31816774T>C | CA363414205 | HSPA1A,HSPA1L | c.1018T>C (p.Ser340Pro) c.523T>C (p.Ser175Pro) c.-14+4239A>G (n.-14+4239A>G) | |
6 | g.31816774T>G | CA363414203 | HSPA1A,HSPA1L | c.1018T>G (p.Ser340Ala) c.523T>G (p.Ser175Ala) c.-14+4239A>C (n.-14+4239A>C) | |
6 | g.31816775C>A | CA363414210 | HSPA1A,HSPA1L | c.1019C>A (p.Ser340Tyr) c.524C>A (p.Ser175Tyr) c.-14+4238G>T (n.-14+4238G>T) | |
6 | g.31816775C>G | CA363414211 | HSPA1A,HSPA1L | c.1019C>G (p.Ser340Cys) c.524C>G (p.Ser175Cys) c.-14+4238G>C (n.-14+4238G>C) | |
6 | g.31816775C>T | CA363414212 | HSPA1A,HSPA1L | c.1019C>T (p.Ser340Phe) c.524C>T (p.Ser175Phe) c.-14+4238G>A (n.-14+4238G>A) | |
6 | g.31816776C>A | CA449805913 | HSPA1A,HSPA1L | c.1020C>A (p.Ser340=) c.525C>A (p.Ser175=) c.-14+4237G>T (n.-14+4237G>T) | |
6 | g.31816776C>G | CA449805914 | HSPA1A,HSPA1L | c.1020C>G (p.Ser340=) c.525C>G (p.Ser175=) c.-14+4237G>C (n.-14+4237G>C) | |
6 | g.31816776C>T | CA449805915 | HSPA1A,HSPA1L | c.1020C>T (p.Ser340=) c.525C>T (p.Ser175=) c.-14+4237G>A (n.-14+4237G>A) | gnomAD v4 |
6 | g.31816777A>C | CA363414216 | HSPA1A,HSPA1L | c.1021A>C (p.Thr341Pro) c.526A>C (p.Thr176Pro) c.-14+4236T>G (n.-14+4236T>G) | |
6 | g.31816777A>G | CA363414218 | HSPA1A,HSPA1L | c.1021A>G (p.Thr341Ala) c.526A>G (p.Thr176Ala) c.-14+4236T>C (n.-14+4236T>C) | |
6 | g.31816777A>T | CA363414220 | HSPA1A,HSPA1L | c.1021A>T (p.Thr341Ser) c.526A>T (p.Thr176Ser) c.-14+4236T>A (n.-14+4236T>A) | gnomAD v4 |
6 | g.31816778C>A | CA363414229 | HSPA1A,HSPA1L | c.1022C>A (p.Thr341Asn) c.527C>A (p.Thr176Asn) c.-14+4235G>T (n.-14+4235G>T) | |
6 | g.31816778C>G | CA363414224 | HSPA1A,HSPA1L | c.1022C>G (p.Thr341Ser) c.527C>G (p.Thr176Ser) c.-14+4235G>C (n.-14+4235G>C) | |
6 | g.31816778C>T | CA363414227 | HSPA1A,HSPA1L | c.1022C>T (p.Thr341Ile) c.527C>T (p.Thr176Ile) c.-14+4235G>A (n.-14+4235G>A) | |
6 | g.31816779C>A | CA449805925 | HSPA1A,HSPA1L | c.1023C>A (p.Thr341=) c.528C>A (p.Thr176=) c.-14+4234G>T (n.-14+4234G>T) | |
6 | g.31816779C>G | CA449805926 | HSPA1A,HSPA1L | c.1023C>G (p.Thr341=) c.528C>G (p.Thr176=) c.-14+4234G>C (n.-14+4234G>C) | |
6 | g.31816779C>T | CA449805927 | HSPA1A,HSPA1L | c.1023C>T (p.Thr341=) c.528C>T (p.Thr176=) c.-14+4234G>A (n.-14+4234G>A) | |
6 | g.31816780C>A | CA363414232 | HSPA1A,HSPA1L | c.1024C>A (p.Arg342Ser) c.529C>A (p.Arg177Ser) c.-14+4233G>T (n.-14+4233G>T) | |
6 | g.31816780C= | CA1619307535 | HSPA1A,HSPA1L | c.1024C= (p.Arg342=) c.529C= (p.Arg177=) c.-14+4233G= (n.-14+4233G=) | |
6 | g.31816780C>G | CA363414236 | HSPA1A,HSPA1L | c.1024C>G (p.Arg342Gly) c.529C>G (p.Arg177Gly) c.-14+4233G>C (n.-14+4233G>C) | |
6 | g.31816780C>T | CA363414238 | HSPA1A,HSPA1L | c.1024C>T (p.Arg342Cys) c.529C>T (p.Arg177Cys) c.-14+4233G>A (n.-14+4233G>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31816781G>A | CA363414241 | HSPA1A,HSPA1L | c.1025G>A (p.Arg342His) c.530G>A (p.Arg177His) c.-14+4232C>T (n.-14+4232C>T) | gnomAD v4 |
6 | g.31816781G>C | CA363414243 | HSPA1A,HSPA1L | c.1025G>C (p.Arg342Pro) c.530G>C (p.Arg177Pro) c.-14+4232C>G (n.-14+4232C>G) | |
6 | g.31816781G>T | CA363414245 | HSPA1A,HSPA1L | c.1025G>T (p.Arg342Leu) c.530G>T (p.Arg177Leu) c.-14+4232C>A (n.-14+4232C>A) | |
6 | g.31816782C>A | CA449805933 | HSPA1A,HSPA1L | c.1026C>A (p.Arg342=) c.531C>A (p.Arg177=) c.-14+4231G>T (n.-14+4231G>T) | |
6 | g.31816782C>G | CA449805936 | HSPA1A,HSPA1L | c.1026C>G (p.Arg342=) c.531C>G (p.Arg177=) c.-14+4231G>C (n.-14+4231G>C) | |
6 | g.31816782C>T | CA449805937 | HSPA1A,HSPA1L | c.1026C>T (p.Arg342=) c.531C>T (p.Arg177=) c.-14+4231G>A (n.-14+4231G>A) | |
6 | g.31816783A>C | CA363414248 | HSPA1A,HSPA1L | c.1027A>C (p.Ile343Leu) c.532A>C (p.Ile178Leu) c.-14+4230T>G (n.-14+4230T>G) | gnomAD v4 |
6 | g.31816783A>G | CA363414250 | HSPA1A,HSPA1L | c.1027A>G (p.Ile343Val) c.532A>G (p.Ile178Val) c.-14+4230T>C (n.-14+4230T>C) | |
6 | g.31816783A>T | CA363414252 | HSPA1A,HSPA1L | c.1027A>T (p.Ile343Phe) c.532A>T (p.Ile178Phe) c.-14+4230T>A (n.-14+4230T>A) | |
6 | g.31816784T>A | CA363414258 | HSPA1A,HSPA1L | c.1028T>A (p.Ile343Asn) c.533T>A (p.Ile178Asn) c.-14+4229A>T (n.-14+4229A>T) | |
6 | g.31816784T>C | CA363414265 | HSPA1A,HSPA1L | c.1028T>C (p.Ile343Thr) c.533T>C (p.Ile178Thr) c.-14+4229A>G (n.-14+4229A>G) | |
6 | g.31816784T>G | CA363414268 | HSPA1A,HSPA1L | c.1028T>G (p.Ile343Ser) c.533T>G (p.Ile178Ser) c.-14+4229A>C (n.-14+4229A>C) | |
6 | g.31816785C>A | CA449805947 | HSPA1A,HSPA1L | c.1029C>A (p.Ile343=) c.534C>A (p.Ile178=) c.-14+4228G>T (n.-14+4228G>T) | gnomAD v4 |
6 | g.31816785C>G | CA363414273 | HSPA1A,HSPA1L | c.1029C>G (p.Ile343Met) c.534C>G (p.Ile178Met) c.-14+4228G>C (n.-14+4228G>C) | |
6 | g.31816785C>T | CA449805948 | HSPA1A,HSPA1L | c.1029C>T (p.Ile343=) c.534C>T (p.Ile178=) c.-14+4228G>A (n.-14+4228G>A) | |
6 | g.31816788dup | CA2678044338 | HSPA1A,HSPA1L | c.1032dup (p.Lys345GlnfsTer?) c.537dup (p.Lys180GlnfsTer?) c.-14+4228dup (n.-14+4228dup) | gnomAD v4 |
6 | g.31816786C>A | CA363414278 | HSPA1A,HSPA1L | c.1030C>A (p.Pro344Thr) c.535C>A (p.Pro179Thr) c.-14+4227G>T (n.-14+4227G>T) | |
6 | g.31816786C>G | CA363414284 | HSPA1A,HSPA1L | c.1030C>G (p.Pro344Ala) c.535C>G (p.Pro179Ala) c.-14+4227G>C (n.-14+4227G>C) | |
6 | g.31816786C>T | CA363414281 | HSPA1A,HSPA1L | c.1030C>T (p.Pro344Ser) c.535C>T (p.Pro179Ser) c.-14+4227G>A (n.-14+4227G>A) | |
6 | g.31816787C>A | CA363414289 | HSPA1A,HSPA1L | c.1031C>A (p.Pro344His) c.536C>A (p.Pro179His) c.-14+4226G>T (n.-14+4226G>T) | |
6 | g.31816787C>G | CA363414293 | HSPA1A,HSPA1L | c.1031C>G (p.Pro344Arg) c.536C>G (p.Pro179Arg) c.-14+4226G>C (n.-14+4226G>C) | |
6 | g.31816787C>T | CA363414308 | HSPA1A,HSPA1L | c.1031C>T (p.Pro344Leu) c.536C>T (p.Pro179Leu) c.-14+4226G>A (n.-14+4226G>A) | |
6 | g.31816788C>A | CA449805952 | HSPA1A,HSPA1L | c.1032C>A (p.Pro344=) c.537C>A (p.Pro179=) c.-14+4225G>T (n.-14+4225G>T) | |
6 | g.31816788C>G | CA449805954 | HSPA1A,HSPA1L | c.1032C>G (p.Pro344=) c.537C>G (p.Pro179=) c.-14+4225G>C (n.-14+4225G>C) | |
6 | g.31816788C>T | CA449805956 | HSPA1A,HSPA1L | c.1032C>T (p.Pro344=) c.537C>T (p.Pro179=) c.-14+4225G>A (n.-14+4225G>A) | |
6 | g.31816789A>C | CA363414311 | HSPA1A,HSPA1L | c.1033A>C (p.Lys345Gln) c.538A>C (p.Lys180Gln) c.-14+4224T>G (n.-14+4224T>G) | gnomAD v4 |
6 | g.31816789A>G | CA363414314 | HSPA1A,HSPA1L | c.1033A>G (p.Lys345Glu) c.538A>G (p.Lys180Glu) c.-14+4224T>C (n.-14+4224T>C) | |
6 | g.31816789A>T | CA363414318 | HSPA1A,HSPA1L | c.1033A>T (p.Lys345Ter) c.538A>T (p.Lys180Ter) c.-14+4224T>A (n.-14+4224T>A) | |
6 | g.31816790A>C | CA363414334 | HSPA1A,HSPA1L | c.1034A>C (p.Lys345Thr) c.539A>C (p.Lys180Thr) c.-14+4223T>G (n.-14+4223T>G) | gnomAD v4 |
6 | g.31816790A>G | CA363414324 | HSPA1A,HSPA1L | c.1034A>G (p.Lys345Arg) c.539A>G (p.Lys180Arg) c.-14+4223T>C (n.-14+4223T>C) | |
6 | g.31816790A>T | CA363414329 | HSPA1A,HSPA1L | c.1034A>T (p.Lys345Met) c.539A>T (p.Lys180Met) c.-14+4223T>A (n.-14+4223T>A) | gnomAD v4 |
6 | g.31816791G>A | CA449805971 | HSPA1A,HSPA1L | c.1035G>A (p.Lys345=) c.540G>A (p.Lys180=) c.-14+4222C>T (n.-14+4222C>T) | |
6 | g.31816791G>C | CA363414338 | HSPA1A,HSPA1L | c.1035G>C (p.Lys345Asn) c.540G>C (p.Lys180Asn) c.-14+4222C>G (n.-14+4222C>G) | |
6 | g.31816791G>T | CA363414341 | HSPA1A,HSPA1L | c.1035G>T (p.Lys345Asn) c.540G>T (p.Lys180Asn) c.-14+4222C>A (n.-14+4222C>A) | |
6 | g.31816792G>A | CA363414347 | HSPA1A,HSPA1L | c.1036G>A (p.Val346Met) c.541G>A (p.Val181Met) c.-14+4221C>T (n.-14+4221C>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31816792G>C | CA363414360 | HSPA1A,HSPA1L | c.1036G>C (p.Val346Leu) c.541G>C (p.Val181Leu) c.-14+4221C>G (n.-14+4221C>G) | |
6 | g.31816792G= | CA1619307536 | HSPA1A,HSPA1L | c.1036G= (p.Val346=) c.541G= (p.Val181=) c.-14+4221C= (n.-14+4221C=) | |
6 | g.31816792G>T | CA363414368 | HSPA1A,HSPA1L | c.1036G>T (p.Val346Leu) c.541G>T (p.Val181Leu) c.-14+4221C>A (n.-14+4221C>A) | |
6 | g.31816793T>A | CA363414373 | HSPA1A,HSPA1L | c.1037T>A (p.Val346Glu) c.542T>A (p.Val181Glu) c.-14+4220A>T (n.-14+4220A>T) | |
6 | g.31816793T>C | CA363414378 | HSPA1A,HSPA1L | c.1037T>C (p.Val346Ala) c.542T>C (p.Val181Ala) c.-14+4220A>G (n.-14+4220A>G) | |
6 | g.31816793T>G | CA363414376 | HSPA1A,HSPA1L | c.1037T>G (p.Val346Gly) c.542T>G (p.Val181Gly) c.-14+4220A>C (n.-14+4220A>C) | |
6 | g.31816794G>A | CA449805982 | HSPA1A,HSPA1L | c.1038G>A (p.Val346=) c.543G>A (p.Val181=) c.-14+4219C>T (n.-14+4219C>T) | |
6 | g.31816794G>C | CA449805981 | HSPA1A,HSPA1L | c.1038G>C (p.Val346=) c.543G>C (p.Val181=) c.-14+4219C>G (n.-14+4219C>G) | |
6 | g.31816794G>T | CA449805980 | HSPA1A,HSPA1L | c.1038G>T (p.Val346=) c.543G>T (p.Val181=) c.-14+4219C>A (n.-14+4219C>A) | |
6 | g.31816795C>A | CA363414380 | HSPA1A,HSPA1L | c.1039C>A (p.Gln347Lys) c.544C>A (p.Gln182Lys) c.-14+4218G>T (n.-14+4218G>T) | |
6 | g.31816795C>G | CA363414383 | HSPA1A,HSPA1L | c.1039C>G (p.Gln347Glu) c.544C>G (p.Gln182Glu) c.-14+4218G>C (n.-14+4218G>C) | |
6 | g.31816795C>T | CA363414388 | HSPA1A,HSPA1L | c.1039C>T (p.Gln347Ter) c.544C>T (p.Gln182Ter) c.-14+4218G>A (n.-14+4218G>A) | gnomAD v4 |
6 | g.31816796A>C | CA363414395 | HSPA1A,HSPA1L | c.1040A>C (p.Gln347Pro) c.545A>C (p.Gln182Pro) c.-14+4217T>G (n.-14+4217T>G) | |
6 | g.31816796A>G | CA363414399 | HSPA1A,HSPA1L | c.1040A>G (p.Gln347Arg) c.545A>G (p.Gln182Arg) c.-14+4217T>C (n.-14+4217T>C) | |
6 | g.31816796A>T | CA363414400 | HSPA1A,HSPA1L | c.1040A>T (p.Gln347Leu) c.545A>T (p.Gln182Leu) c.-14+4217T>A (n.-14+4217T>A) | |
6 | g.31816797G>A | CA449805989 | HSPA1A,HSPA1L | c.1041G>A (p.Gln347=) c.546G>A (p.Gln182=) c.-14+4216C>T (n.-14+4216C>T) | |
6 | g.31816797G>C | CA363414406 | HSPA1A,HSPA1L | c.1041G>C (p.Gln347His) c.546G>C (p.Gln182His) c.-14+4216C>G (n.-14+4216C>G) | |
6 | g.31816797G>T | CA363414410 | HSPA1A,HSPA1L | c.1041G>T (p.Gln347His) c.546G>T (p.Gln182His) c.-14+4216C>A (n.-14+4216C>A) | |
6 | g.31816798A>C | CA363414414 | HSPA1A,HSPA1L | c.1042A>C (p.Lys348Gln) c.547A>C (p.Lys183Gln) c.-14+4215T>G (n.-14+4215T>G) | |
6 | g.31816798A>G | CA363414419 | HSPA1A,HSPA1L | c.1042A>G (p.Lys348Glu) c.547A>G (p.Lys183Glu) c.-14+4215T>C (n.-14+4215T>C) | |
6 | g.31816798A>T | CA363414423 | HSPA1A,HSPA1L | c.1042A>T (p.Lys348Ter) c.547A>T (p.Lys183Ter) c.-14+4215T>A (n.-14+4215T>A) | |
6 | g.31816799A>C | CA363414433 | HSPA1A,HSPA1L | c.1043A>C (p.Lys348Thr) c.548A>C (p.Lys183Thr) c.-14+4214T>G (n.-14+4214T>G) | |
6 | g.31816799A>G | CA363414438 | HSPA1A,HSPA1L | c.1043A>G (p.Lys348Arg) c.548A>G (p.Lys183Arg) c.-14+4214T>C (n.-14+4214T>C) | |
6 | g.31816799A>T | CA363414429 | HSPA1A,HSPA1L | c.1043A>T (p.Lys348Met) c.548A>T (p.Lys183Met) c.-14+4214T>A (n.-14+4214T>A) | |
6 | g.31816800G>A | CA449805999 | HSPA1A,HSPA1L | c.1044G>A (p.Lys348=) c.549G>A (p.Lys183=) c.-14+4213C>T (n.-14+4213C>T) | gnomAD v4 |
6 | g.31816800G>C | CA363414443 | HSPA1A,HSPA1L | c.1044G>C (p.Lys348Asn) c.549G>C (p.Lys183Asn) c.-14+4213C>G (n.-14+4213C>G) | |
6 | g.31816800G>T | CA363414452 | HSPA1A,HSPA1L | c.1044G>T (p.Lys348Asn) c.549G>T (p.Lys183Asn) c.-14+4213C>A (n.-14+4213C>A) | |
6 | g.31816801C>A | CA363414463 | HSPA1A,HSPA1L | c.1045C>A (p.Leu349Met) c.550C>A (p.Leu184Met) c.-14+4212G>T (n.-14+4212G>T) | |
6 | g.31816801C>G | CA363414466 | HSPA1A,HSPA1L | c.1045C>G (p.Leu349Val) c.550C>G (p.Leu184Val) c.-14+4212G>C (n.-14+4212G>C) | |
6 | g.31816801C>T | CA449806003 | HSPA1A,HSPA1L | c.1045C>T (p.Leu349=) c.550C>T (p.Leu184=) c.-14+4212G>A (n.-14+4212G>A) | |
6 | g.31816802T>A | CA363414469 | HSPA1A,HSPA1L | c.1046T>A (p.Leu349Gln) c.551T>A (p.Leu184Gln) c.-14+4211A>T (n.-14+4211A>T) | |
6 | g.31816802T>C | CA363414472 | HSPA1A,HSPA1L | c.1046T>C (p.Leu349Pro) c.551T>C (p.Leu184Pro) c.-14+4211A>G (n.-14+4211A>G) | |
6 | g.31816802T>G | CA363414473 | HSPA1A,HSPA1L | c.1046T>G (p.Leu349Arg) c.551T>G (p.Leu184Arg) c.-14+4211A>C (n.-14+4211A>C) | |
6 | g.31816803G>A | CA449806005 | HSPA1A,HSPA1L | c.1047G>A (p.Leu349=) c.552G>A (p.Leu184=) c.-14+4210C>T (n.-14+4210C>T) | |
6 | g.31816803G>C | CA449806007 | HSPA1A,HSPA1L | c.1047G>C (p.Leu349=) c.552G>C (p.Leu184=) c.-14+4210C>G (n.-14+4210C>G) | |
6 | g.31816803G>T | CA449806008 | HSPA1A,HSPA1L | c.1047G>T (p.Leu349=) c.552G>T (p.Leu184=) c.-14+4210C>A (n.-14+4210C>A) | gnomAD v4 |
6 | g.31816804C>A | CA363414474 | HSPA1A,HSPA1L | c.1048C>A (p.Leu350Met) c.553C>A (p.Leu185Met) c.-14+4209G>T (n.-14+4209G>T) | |
6 | g.31816804C>G | CA363414475 | HSPA1A,HSPA1L | c.1048C>G (p.Leu350Val) c.553C>G (p.Leu185Val) c.-14+4209G>C (n.-14+4209G>C) | |
6 | g.31816804C>T | CA449806011 | HSPA1A,HSPA1L | c.1048C>T (p.Leu350=) c.553C>T (p.Leu185=) c.-14+4209G>A (n.-14+4209G>A) | |
6 | g.31816805T>A | CA363414479 | HSPA1A,HSPA1L | c.1049T>A (p.Leu350Gln) c.554T>A (p.Leu185Gln) c.-14+4208A>T (n.-14+4208A>T) | |
6 | g.31816805T>C | CA363414480 | HSPA1A,HSPA1L | c.1049T>C (p.Leu350Pro) c.554T>C (p.Leu185Pro) c.-14+4208A>G (n.-14+4208A>G) | |
6 | g.31816805T>G | CA363414482 | HSPA1A,HSPA1L | c.1049T>G (p.Leu350Arg) c.554T>G (p.Leu185Arg) c.-14+4208A>C (n.-14+4208A>C) | |
6 | g.31816806G>A | CA449806015 | HSPA1A,HSPA1L | c.1050G>A (p.Leu350=) c.555G>A (p.Leu185=) c.-14+4207C>T (n.-14+4207C>T) | gnomAD v4 |
6 | g.31816806G>C | CA449806016 | HSPA1A,HSPA1L | c.1050G>C (p.Leu350=) c.555G>C (p.Leu185=) c.-14+4207C>G (n.-14+4207C>G) | |
6 | g.31816806G>T | CA449806017 | HSPA1A,HSPA1L | c.1050G>T (p.Leu350=) c.555G>T (p.Leu185=) c.-14+4207C>A (n.-14+4207C>A) | |
6 | g.31816807C>A | CA363414484 | HSPA1A,HSPA1L | c.1051C>A (p.Gln351Lys) c.556C>A (p.Gln186Lys) c.-14+4206G>T (n.-14+4206G>T) | |
6 | g.31816807C>G | CA363414486 | HSPA1A,HSPA1L | c.1051C>G (p.Gln351Glu) c.556C>G (p.Gln186Glu) c.-14+4206G>C (n.-14+4206G>C) | |
6 | g.31816807C>T | CA363414487 | HSPA1A,HSPA1L | c.1051C>T (p.Gln351Ter) c.556C>T (p.Gln186Ter) c.-14+4206G>A (n.-14+4206G>A) | |
6 | g.31816808A>C | CA363414488 | HSPA1A,HSPA1L | c.1052A>C (p.Gln351Pro) c.557A>C (p.Gln186Pro) c.-14+4205T>G (n.-14+4205T>G) | |
6 | g.31816808A>G | CA363414495 | HSPA1A,HSPA1L | c.1052A>G (p.Gln351Arg) c.557A>G (p.Gln186Arg) c.-14+4205T>C (n.-14+4205T>C) | |
6 | g.31816808A>T | CA363414490 | HSPA1A,HSPA1L | c.1052A>T (p.Gln351Leu) c.557A>T (p.Gln186Leu) c.-14+4205T>A (n.-14+4205T>A) | gnomAD v4 |
6 | g.31816809G>A | CA136893241 | HSPA1A,HSPA1L | c.1053G>A (p.Gln351=) c.558G>A (p.Gln186=) c.-14+4204C>T (n.-14+4204C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.31816809G>C | CA363414502 | HSPA1A,HSPA1L | c.1053G>C (p.Gln351His) c.558G>C (p.Gln186His) c.-14+4204C>G (n.-14+4204C>G) | |
6 | g.31816809G= | CA1619307537 | HSPA1A,HSPA1L | c.1053G= (p.Gln351=) c.558G= (p.Gln186=) c.-14+4204C= (n.-14+4204C=) | |
6 | g.31816809G>T | CA363414513 | HSPA1A,HSPA1L | c.1053G>T (p.Gln351His) c.558G>T (p.Gln186His) c.-14+4204C>A (n.-14+4204C>A) | |
6 | g.31816810G>A | CA363414515 | HSPA1A,HSPA1L | c.1054G>A (p.Asp352Asn) c.559G>A (p.Asp187Asn) c.-14+4203C>T (n.-14+4203C>T) | |
6 | g.31816810G>C | CA363414516 | HSPA1A,HSPA1L | c.1054G>C (p.Asp352His) c.559G>C (p.Asp187His) c.-14+4203C>G (n.-14+4203C>G) | |
6 | g.31816810G>T | CA363414518 | HSPA1A,HSPA1L | c.1054G>T (p.Asp352Tyr) c.559G>T (p.Asp187Tyr) c.-14+4203C>A (n.-14+4203C>A) | |
6 | g.31816811A>C | CA363414525 | HSPA1A,HSPA1L | c.1055A>C (p.Asp352Ala) c.560A>C (p.Asp187Ala) c.-14+4202T>G (n.-14+4202T>G) | gnomAD v4 |
6 | g.31816811A>G | CA363414526 | HSPA1A,HSPA1L | c.1055A>G (p.Asp352Gly) c.560A>G (p.Asp187Gly) c.-14+4202T>C (n.-14+4202T>C) | |
6 | g.31816811A>T | CA363414527 | HSPA1A,HSPA1L | c.1055A>T (p.Asp352Val) c.560A>T (p.Asp187Val) c.-14+4202T>A (n.-14+4202T>A) | |
6 | g.31816812C>A | CA363414529 | HSPA1A,HSPA1L | c.1056C>A (p.Asp352Glu) c.561C>A (p.Asp187Glu) c.-14+4201G>T (n.-14+4201G>T) | |
6 | g.31816812C>G | CA363414530 | HSPA1A,HSPA1L | c.1056C>G (p.Asp352Glu) c.561C>G (p.Asp187Glu) c.-14+4201G>C (n.-14+4201G>C) | |
6 | g.31816812C>T | CA449806030 | HSPA1A,HSPA1L | c.1056C>T (p.Asp352=) c.561C>T (p.Asp187=) c.-14+4201G>A (n.-14+4201G>A) | |
6 | g.31816813T>A | CA363414538 | HSPA1A,HSPA1L | c.1057T>A (p.Phe353Ile) c.562T>A (p.Phe188Ile) c.-14+4200A>T (n.-14+4200A>T) | |
6 | g.31816813T>C | CA363414536 | HSPA1A,HSPA1L | c.1057T>C (p.Phe353Leu) c.562T>C (p.Phe188Leu) c.-14+4200A>G (n.-14+4200A>G) | |
6 | g.31816813T>G | CA363414533 | HSPA1A,HSPA1L | c.1057T>G (p.Phe353Val) c.562T>G (p.Phe188Val) c.-14+4200A>C (n.-14+4200A>C) | |
6 | g.31816814T>A | CA363414547 | HSPA1A,HSPA1L | c.1058T>A (p.Phe353Tyr) c.563T>A (p.Phe188Tyr) c.-14+4199A>T (n.-14+4199A>T) | |
6 | g.31816814T>C | CA363414543 | HSPA1A,HSPA1L | c.1058T>C (p.Phe353Ser) c.563T>C (p.Phe188Ser) c.-14+4199A>G (n.-14+4199A>G) | |
6 | g.31816814T>G | CA363414546 | HSPA1A,HSPA1L | c.1058T>G (p.Phe353Cys) c.563T>G (p.Phe188Cys) c.-14+4199A>C (n.-14+4199A>C) | |
6 | g.31816815C>A | CA363414548 | HSPA1A,HSPA1L | c.1059C>A (p.Phe353Leu) c.564C>A (p.Phe188Leu) c.-14+4198G>T (n.-14+4198G>T) | |
6 | g.31816815C>G | CA363414549 | HSPA1A,HSPA1L | c.1059C>G (p.Phe353Leu) c.564C>G (p.Phe188Leu) c.-14+4198G>C (n.-14+4198G>C) | |
6 | g.31816815C>T | CA449806039 | HSPA1A,HSPA1L | c.1059C>T (p.Phe353=) c.564C>T (p.Phe188=) c.-14+4198G>A (n.-14+4198G>A) | gnomAD v4 |
6 | g.31816816T>A | CA363414552 | HSPA1A,HSPA1L | c.1060T>A (p.Phe354Ile) c.565T>A (p.Phe189Ile) c.-14+4197A>T (n.-14+4197A>T) | |
6 | g.31816816T>C | CA363414555 | HSPA1A,HSPA1L | c.1060T>C (p.Phe354Leu) c.565T>C (p.Phe189Leu) c.-14+4197A>G (n.-14+4197A>G) | |
6 | g.31816816T>G | CA363414564 | HSPA1A,HSPA1L | c.1060T>G (p.Phe354Val) c.565T>G (p.Phe189Val) c.-14+4197A>C (n.-14+4197A>C) | |
6 | g.31816817T>A | CA363414569 | HSPA1A,HSPA1L | c.1061T>A (p.Phe354Tyr) c.566T>A (p.Phe189Tyr) c.-14+4196A>T (n.-14+4196A>T) | |
6 | g.31816817T>C | CA363414570 | HSPA1A,HSPA1L | c.1061T>C (p.Phe354Ser) c.566T>C (p.Phe189Ser) c.-14+4196A>G (n.-14+4196A>G) | |
6 | g.31816817T>G | CA363414573 | HSPA1A,HSPA1L | c.1061T>G (p.Phe354Cys) c.566T>G (p.Phe189Cys) c.-14+4196A>C (n.-14+4196A>C) | gnomAD v4 |
6 | g.31816818C>A | CA363414578 | HSPA1A,HSPA1L | c.1062C>A (p.Phe354Leu) c.567C>A (p.Phe189Leu) c.-14+4195G>T (n.-14+4195G>T) | |
6 | g.31816818C>G | CA363414583 | HSPA1A,HSPA1L | c.1062C>G (p.Phe354Leu) c.567C>G (p.Phe189Leu) c.-14+4195G>C (n.-14+4195G>C) | |
6 | g.31816818C>T | CA449806050 | HSPA1A,HSPA1L | c.1062C>T (p.Phe354=) c.567C>T (p.Phe189=) c.-14+4195G>A (n.-14+4195G>A) | |
6 | g.31816819A>C | CA363414593 | HSPA1A,HSPA1L | c.1063A>C (p.Asn355His) c.568A>C (p.Asn190His) c.-14+4194T>G (n.-14+4194T>G) | gnomAD v4 |
6 | g.31816819A>G | CA363414597 | HSPA1A,HSPA1L | c.1063A>G (p.Asn355Asp) c.568A>G (p.Asn190Asp) c.-14+4194T>C (n.-14+4194T>C) | |
6 | g.31816819A>T | CA363414588 | HSPA1A,HSPA1L | c.1063A>T (p.Asn355Tyr) c.568A>T (p.Asn190Tyr) c.-14+4194T>A (n.-14+4194T>A) | |
6 | g.31816820A>C | CA363414601 | HSPA1A,HSPA1L | c.1064A>C (p.Asn355Thr) c.569A>C (p.Asn190Thr) c.-14+4193T>G (n.-14+4193T>G) | |
6 | g.31816820A>G | CA363414603 | HSPA1A,HSPA1L | c.1064A>G (p.Asn355Ser) c.569A>G (p.Asn190Ser) c.-14+4193T>C (n.-14+4193T>C) | |
6 | g.31816820A>T | CA363414604 | HSPA1A,HSPA1L | c.1064A>T (p.Asn355Ile) c.569A>T (p.Asn190Ile) c.-14+4193T>A (n.-14+4193T>A) | |
6 | g.31816821C>A | CA363414606 | HSPA1A,HSPA1L | c.1065C>A (p.Asn355Lys) c.570C>A (p.Asn190Lys) c.-14+4192G>T (n.-14+4192G>T) | |
6 | g.31816821C>G | CA363414608 | HSPA1A,HSPA1L | c.1065C>G (p.Asn355Lys) c.570C>G (p.Asn190Lys) c.-14+4192G>C (n.-14+4192G>C) | |
6 | g.31816821C>T | CA449806051 | HSPA1A,HSPA1L | c.1065C>T (p.Asn355=) c.570C>T (p.Asn190=) c.-14+4192G>A (n.-14+4192G>A) | |
6 | g.31816822G>A | CA363414617 | HSPA1A,HSPA1L | c.1066G>A (p.Gly356Arg) c.571G>A (p.Gly191Arg) c.-14+4191C>T (n.-14+4191C>T) | gnomAD v4 |
6 | g.31816822G>C | CA363414611 | HSPA1A,HSPA1L | c.1066G>C (p.Gly356Arg) c.571G>C (p.Gly191Arg) c.-14+4191C>G (n.-14+4191C>G) | gnomAD v4 |
6 | g.31816822G>T | CA363414615 | HSPA1A,HSPA1L | c.1066G>T (p.Gly356Trp) c.571G>T (p.Gly191Trp) c.-14+4191C>A (n.-14+4191C>A) | |
6 | g.31816823G>A | CA363414622 | HSPA1A,HSPA1L | c.1067G>A (p.Gly356Glu) c.572G>A (p.Gly191Glu) c.-14+4190C>T (n.-14+4190C>T) | |
6 | g.31816823G>C | CA363414623 | HSPA1A,HSPA1L | c.1067G>C (p.Gly356Ala) c.572G>C (p.Gly191Ala) c.-14+4190C>G (n.-14+4190C>G) | |
6 | g.31816823G>T | CA363414628 | HSPA1A,HSPA1L | c.1067G>T (p.Gly356Val) c.572G>T (p.Gly191Val) c.-14+4190C>A (n.-14+4190C>A) | |
6 | g.31816824G>A | CA449806066 | HSPA1A,HSPA1L | c.1068G>A (p.Gly356=) c.573G>A (p.Gly191=) c.-14+4189C>T (n.-14+4189C>T) | |
6 | g.31816824G>C | CA449806064 | HSPA1A,HSPA1L | c.1068G>C (p.Gly356=) c.573G>C (p.Gly191=) c.-14+4189C>G (n.-14+4189C>G) | |
6 | g.31816824G>T | CA449806062 | HSPA1A,HSPA1L | c.1068G>T (p.Gly356=) c.573G>T (p.Gly191=) c.-14+4189C>A (n.-14+4189C>A) | |
6 | g.31816825C>A | CA363414633 | HSPA1A,HSPA1L | c.1069C>A (p.Arg357Ser) c.574C>A (p.Arg192Ser) c.-14+4188G>T (n.-14+4188G>T) | |
6 | g.31816825C= | CA1619307538 | HSPA1A,HSPA1L | c.1069C= (p.Arg357=) c.574C= (p.Arg192=) c.-14+4188G= (n.-14+4188G=) | |
6 | g.31816825C>G | CA363414636 | HSPA1A,HSPA1L | c.1069C>G (p.Arg357Gly) c.574C>G (p.Arg192Gly) c.-14+4188G>C (n.-14+4188G>C) | |
6 | g.31816825C>T | CA363414639 | HSPA1A,HSPA1L | c.1069C>T (p.Arg357Cys) c.574C>T (p.Arg192Cys) c.-14+4188G>A (n.-14+4188G>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31816826G>A | CA363414645 | HSPA1A,HSPA1L | c.1070G>A (p.Arg357His) c.575G>A (p.Arg192His) c.-14+4187C>T (n.-14+4187C>T) | |
6 | g.31816826G>C | CA363414647 | HSPA1A,HSPA1L | c.1070G>C (p.Arg357Pro) c.575G>C (p.Arg192Pro) c.-14+4187C>G (n.-14+4187C>G) | |
6 | g.31816826G>T | CA363414643 | HSPA1A,HSPA1L | c.1070G>T (p.Arg357Leu) c.575G>T (p.Arg192Leu) c.-14+4187C>A (n.-14+4187C>A) | |
6 | g.31816827C>A | CA449806072 | HSPA1A,HSPA1L | c.1071C>A (p.Arg357=) c.576C>A (p.Arg192=) c.-14+4186G>T (n.-14+4186G>T) | |
6 | g.31816827C= | CA1619307539 | HSPA1A,HSPA1L | c.1071C= (p.Arg357=) c.576C= (p.Arg192=) c.-14+4186G= (n.-14+4186G=) | |
6 | g.31816827C>G | CA449806076 | HSPA1A,HSPA1L | c.1071C>G (p.Arg357=) c.576C>G (p.Arg192=) c.-14+4186G>C (n.-14+4186G>C) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31816827C>T | CA449806074 | HSPA1A,HSPA1L | c.1071C>T (p.Arg357=) c.576C>T (p.Arg192=) c.-14+4186G>A (n.-14+4186G>A) | |
6 | g.31816828G>A | CA363414650 | HSPA1A,HSPA1L | c.1072G>A (p.Asp358Asn) c.577G>A (p.Asp193Asn) c.-14+4185C>T (n.-14+4185C>T) | |
6 | g.31816828G>C | CA363414652 | HSPA1A,HSPA1L | c.1072G>C (p.Asp358His) c.577G>C (p.Asp193His) c.-14+4185C>G (n.-14+4185C>G) | |
6 | g.31816828G>T | CA363414655 | HSPA1A,HSPA1L | c.1072G>T (p.Asp358Tyr) c.577G>T (p.Asp193Tyr) c.-14+4185C>A (n.-14+4185C>A) | |
6 | g.31816829A>C | CA363414660 | HSPA1A,HSPA1L | c.1073A>C (p.Asp358Ala) c.578A>C (p.Asp193Ala) c.-14+4184T>G (n.-14+4184T>G) | |
6 | g.31816829A>G | CA363414663 | HSPA1A,HSPA1L | c.1073A>G (p.Asp358Gly) c.578A>G (p.Asp193Gly) c.-14+4184T>C (n.-14+4184T>C) | gnomAD v4 |
6 | g.31816829A>T | CA363414667 | HSPA1A,HSPA1L | c.1073A>T (p.Asp358Val) c.578A>T (p.Asp193Val) c.-14+4184T>A (n.-14+4184T>A) | |
6 | g.31816830C>A | CA363414670 | HSPA1A,HSPA1L | c.1074C>A (p.Asp358Glu) c.579C>A (p.Asp193Glu) c.-14+4183G>T (n.-14+4183G>T) | |
6 | g.31816830C>G | CA363414673 | HSPA1A,HSPA1L | c.1074C>G (p.Asp358Glu) c.579C>G (p.Asp193Glu) c.-14+4183G>C (n.-14+4183G>C) | |
6 | g.31816830C>T | CA449806086 | HSPA1A,HSPA1L | c.1074C>T (p.Asp358=) c.579C>T (p.Asp193=) c.-14+4183G>A (n.-14+4183G>A) | |
6 | g.31816831C>A | CA363414677 | HSPA1A,HSPA1L | c.1075C>A (p.Leu359Met) c.580C>A (p.Leu194Met) c.-14+4182G>T (n.-14+4182G>T) | |
6 | g.31816831C>G | CA363414678 | HSPA1A,HSPA1L | c.1075C>G (p.Leu359Val) c.580C>G (p.Leu194Val) c.-14+4182G>C (n.-14+4182G>C) | |
6 | g.31816831C>T | CA449806088 | HSPA1A,HSPA1L | c.1075C>T (p.Leu359=) c.580C>T (p.Leu194=) c.-14+4182G>A (n.-14+4182G>A) | |
6 | g.31816832T>A | CA363414688 | HSPA1A,HSPA1L | c.1076T>A (p.Leu359Gln) c.581T>A (p.Leu194Gln) c.-14+4181A>T (n.-14+4181A>T) | |
6 | g.31816832T>C | CA363414691 | HSPA1A,HSPA1L | c.1076T>C (p.Leu359Pro) c.581T>C (p.Leu194Pro) c.-14+4181A>G (n.-14+4181A>G) | |
6 | g.31816832T>G | CA363414695 | HSPA1A,HSPA1L | c.1076T>G (p.Leu359Arg) c.581T>G (p.Leu194Arg) c.-14+4181A>C (n.-14+4181A>C) | gnomAD v4 |
6 | g.31816833G>A | CA449806093 | HSPA1A,HSPA1L | c.1077G>A (p.Leu359=) c.582G>A (p.Leu194=) c.-14+4180C>T (n.-14+4180C>T) | |
6 | g.31816833G>C | CA449806094 | HSPA1A,HSPA1L | c.1077G>C (p.Leu359=) c.582G>C (p.Leu194=) c.-14+4180C>G (n.-14+4180C>G) | |
6 | g.31816833G>T | CA449806095 | HSPA1A,HSPA1L | c.1077G>T (p.Leu359=) c.582G>T (p.Leu194=) c.-14+4180C>A (n.-14+4180C>A) | |
6 | g.31816834A>C | CA363414704 | HSPA1A,HSPA1L | c.1078A>C (p.Asn360His) c.583A>C (p.Asn195His) c.-14+4179T>G (n.-14+4179T>G) | |
6 | g.31816834A>G | CA363414702 | HSPA1A,HSPA1L | c.1078A>G (p.Asn360Asp) c.583A>G (p.Asn195Asp) c.-14+4179T>C (n.-14+4179T>C) | |
6 | g.31816834A>T | CA363414699 | HSPA1A,HSPA1L | c.1078A>T (p.Asn360Tyr) c.583A>T (p.Asn195Tyr) c.-14+4179T>A (n.-14+4179T>A) | |
6 | g.31816835A>C | CA363414709 | HSPA1A,HSPA1L | c.1079A>C (p.Asn360Thr) c.584A>C (p.Asn195Thr) c.-14+4178T>G (n.-14+4178T>G) | |
6 | g.31816835A>G | CA363414711 | HSPA1A,HSPA1L | c.1079A>G (p.Asn360Ser) c.584A>G (p.Asn195Ser) c.-14+4178T>C (n.-14+4178T>C) | |
6 | g.31816835A>T | CA363414714 | HSPA1A,HSPA1L | c.1079A>T (p.Asn360Ile) c.584A>T (p.Asn195Ile) c.-14+4178T>A (n.-14+4178T>A) | |
6 | g.31816836C>A | CA363414718 | HSPA1A,HSPA1L | c.1080C>A (p.Asn360Lys) c.585C>A (p.Asn195Lys) c.-14+4177G>T (n.-14+4177G>T) | |
6 | g.31816836C= | CA1619307540 | HSPA1A,HSPA1L | c.1080C= (p.Asn360=) c.585C= (p.Asn195=) c.-14+4177G= (n.-14+4177G=) | |
6 | g.31816836C>G | CA363414721 | HSPA1A,HSPA1L | c.1080C>G (p.Asn360Lys) c.585C>G (p.Asn195Lys) c.-14+4177G>C (n.-14+4177G>C) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31816836C>T | CA449806101 | HSPA1A,HSPA1L | c.1080C>T (p.Asn360=) c.585C>T (p.Asn195=) c.-14+4177G>A (n.-14+4177G>A) | |
6 | g.31816837A>C | CA363414724 | HSPA1A,HSPA1L | c.1081A>C (p.Lys361Gln) c.586A>C (p.Lys196Gln) c.-14+4176T>G (n.-14+4176T>G) | |
6 | g.31816837A>G | CA363414726 | HSPA1A,HSPA1L | c.1081A>G (p.Lys361Glu) c.586A>G (p.Lys196Glu) c.-14+4176T>C (n.-14+4176T>C) | |
6 | g.31816837A>T | CA363414739 | HSPA1A,HSPA1L | c.1081A>T (p.Lys361Ter) c.586A>T (p.Lys196Ter) c.-14+4176T>A (n.-14+4176T>A) | |
6 | g.31816838A>C | CA363414746 | HSPA1A,HSPA1L | c.1082A>C (p.Lys361Thr) c.587A>C (p.Lys196Thr) c.-14+4175T>G (n.-14+4175T>G) | |
6 | g.31816838A>G | CA363414749 | HSPA1A,HSPA1L | c.1082A>G (p.Lys361Arg) c.587A>G (p.Lys196Arg) c.-14+4175T>C (n.-14+4175T>C) | |
6 | g.31816838A>T | CA363414752 | HSPA1A,HSPA1L | c.1082A>T (p.Lys361Met) c.587A>T (p.Lys196Met) c.-14+4175T>A (n.-14+4175T>A) | |
6 | g.31816839G>A | CA449806105 | HSPA1A,HSPA1L | c.1083G>A (p.Lys361=) c.588G>A (p.Lys196=) c.-14+4174C>T (n.-14+4174C>T) | gnomAD v4 |
6 | g.31816839G>C | CA363414757 | HSPA1A,HSPA1L | c.1083G>C (p.Lys361Asn) c.588G>C (p.Lys196Asn) c.-14+4174C>G (n.-14+4174C>G) | gnomAD v4 |
6 | g.31816839G>T | CA363414761 | HSPA1A,HSPA1L | c.1083G>T (p.Lys361Asn) c.588G>T (p.Lys196Asn) c.-14+4174C>A (n.-14+4174C>A) | |
6 | g.31816840A>C | CA363414786 | HSPA1A,HSPA1L | c.1084A>C (p.Ser362Arg) c.589A>C (p.Ser197Arg) c.-14+4173T>G (n.-14+4173T>G) | |
6 | g.31816840A>G | CA363414788 | HSPA1A,HSPA1L | c.1084A>G (p.Ser362Gly) c.589A>G (p.Ser197Gly) c.-14+4173T>C (n.-14+4173T>C) | |
6 | g.31816840A>T | CA363414782 | HSPA1A,HSPA1L | c.1084A>T (p.Ser362Cys) c.589A>T (p.Ser197Cys) c.-14+4173T>A (n.-14+4173T>A) | |
6 | g.31816841G>A | CA363414795 | HSPA1A,HSPA1L | c.1085G>A (p.Ser362Asn) c.590G>A (p.Ser197Asn) c.-14+4172C>T (n.-14+4172C>T) | |
6 | g.31816841G>C | CA363414799 | HSPA1A,HSPA1L | c.1085G>C (p.Ser362Thr) c.590G>C (p.Ser197Thr) c.-14+4172C>G (n.-14+4172C>G) | |
6 | g.31816841G>T | CA363414805 | HSPA1A,HSPA1L | c.1085G>T (p.Ser362Ile) c.590G>T (p.Ser197Ile) c.-14+4172C>A (n.-14+4172C>A) | |
6 | g.31816842C>A | CA363414810 | HSPA1A,HSPA1L | c.1086C>A (p.Ser362Arg) c.591C>A (p.Ser197Arg) c.-14+4171G>T (n.-14+4171G>T) | |
6 | g.31816842C>G | CA363414814 | HSPA1A,HSPA1L | c.1086C>G (p.Ser362Arg) c.591C>G (p.Ser197Arg) c.-14+4171G>C (n.-14+4171G>C) | gnomAD v4 |
6 | g.31816842C>T | CA449806115 | HSPA1A,HSPA1L | c.1086C>T (p.Ser362=) c.591C>T (p.Ser197=) c.-14+4171G>A (n.-14+4171G>A) | |
6 | g.31816843A>C | CA363414815 | HSPA1A,HSPA1L | c.1087A>C (p.Ile363Leu) c.592A>C (p.Ile198Leu) c.-14+4170T>G (n.-14+4170T>G) | |
6 | g.31816843A>G | CA363414816 | HSPA1A,HSPA1L | c.1087A>G (p.Ile363Val) c.592A>G (p.Ile198Val) c.-14+4170T>C (n.-14+4170T>C) | |
6 | g.31816843A>T | CA363414819 | HSPA1A,HSPA1L | c.1087A>T (p.Ile363Phe) c.592A>T (p.Ile198Phe) c.-14+4170T>A (n.-14+4170T>A) | |
6 | g.31816844T>A | CA363414825 | HSPA1A,HSPA1L | c.1088T>A (p.Ile363Asn) c.593T>A (p.Ile198Asn) c.-14+4169A>T (n.-14+4169A>T) | |
6 | g.31816844T>C | CA363414827 | HSPA1A,HSPA1L | c.1088T>C (p.Ile363Thr) c.593T>C (p.Ile198Thr) c.-14+4169A>G (n.-14+4169A>G) | |
6 | g.31816844T>G | CA363414831 | HSPA1A,HSPA1L | c.1088T>G (p.Ile363Ser) c.593T>G (p.Ile198Ser) c.-14+4169A>C (n.-14+4169A>C) | gnomAD v4 |
6 | g.31816845C>A | CA449806123 | HSPA1A,HSPA1L | c.1089C>A (p.Ile363=) c.594C>A (p.Ile198=) c.-14+4168G>T (n.-14+4168G>T) | |
6 | g.31816845C>G | CA363414838 | HSPA1A,HSPA1L | c.1089C>G (p.Ile363Met) c.594C>G (p.Ile198Met) c.-14+4168G>C (n.-14+4168G>C) | |
6 | g.31816845C>T | CA449806125 | HSPA1A,HSPA1L | c.1089C>T (p.Ile363=) c.594C>T (p.Ile198=) c.-14+4168G>A (n.-14+4168G>A) | |
6 | g.31816846A>C | CA363414859 | HSPA1A,HSPA1L | c.1090A>C (p.Asn364His) c.595A>C (p.Asn199His) c.-14+4167T>G (n.-14+4167T>G) | |
6 | g.31816846A>G | CA363414847 | HSPA1A,HSPA1L | c.1090A>G (p.Asn364Asp) c.595A>G (p.Asn199Asp) c.-14+4167T>C (n.-14+4167T>C) | |
6 | g.31816846A>T | CA363414850 | HSPA1A,HSPA1L | c.1090A>T (p.Asn364Tyr) c.595A>T (p.Asn199Tyr) c.-14+4167T>A (n.-14+4167T>A) | |
6 | g.31816847A>C | CA363414863 | HSPA1A,HSPA1L | c.1091A>C (p.Asn364Thr) c.596A>C (p.Asn199Thr) c.-14+4166T>G (n.-14+4166T>G) | |
6 | g.31816847A>G | CA363414867 | HSPA1A,HSPA1L | c.1091A>G (p.Asn364Ser) c.596A>G (p.Asn199Ser) c.-14+4166T>C (n.-14+4166T>C) | gnomAD v4 |
6 | g.31816847A>T | CA363414871 | HSPA1A,HSPA1L | c.1091A>T (p.Asn364Ile) c.596A>T (p.Asn199Ile) c.-14+4166T>A (n.-14+4166T>A) | |
6 | g.31816848C>A | CA363414879 | HSPA1A,HSPA1L | c.1092C>A (p.Asn364Lys) c.597C>A (p.Asn199Lys) c.-14+4165G>T (n.-14+4165G>T) | |
6 | g.31816848C>G | CA363414885 | HSPA1A,HSPA1L | c.1092C>G (p.Asn364Lys) c.597C>G (p.Asn199Lys) c.-14+4165G>C (n.-14+4165G>C) | |
6 | g.31816848C>T | CA449806135 | HSPA1A,HSPA1L | c.1092C>T (p.Asn364=) c.597C>T (p.Asn199=) c.-14+4165G>A (n.-14+4165G>A) | |
6 | g.31816849C>A | CA363414896 | HSPA1A,HSPA1L | c.1093C>A (p.Pro365Thr) c.598C>A (p.Pro200Thr) c.-14+4164G>T (n.-14+4164G>T) | |
6 | g.31816849C= | CA1619307541 | HSPA1A,HSPA1L | c.1093C= (p.Pro365=) c.598C= (p.Pro200=) c.-14+4164G= (n.-14+4164G=) | |
6 | g.31816849C>G | CA363414899 | HSPA1A,HSPA1L | c.1093C>G (p.Pro365Ala) c.598C>G (p.Pro200Ala) c.-14+4164G>C (n.-14+4164G>C) | |
6 | g.31816849C>T | CA363414907 | HSPA1A,HSPA1L | c.1093C>T (p.Pro365Ser) c.598C>T (p.Pro200Ser) c.-14+4164G>A (n.-14+4164G>A) | dbSNP gnomAD v2 |
6 | g.31816850C>A | CA363414912 | HSPA1A,HSPA1L | c.1094C>A (p.Pro365His) c.599C>A (p.Pro200His) c.-14+4163G>T (n.-14+4163G>T) | |
6 | g.31816850C>G | CA363414919 | HSPA1A,HSPA1L | c.1094C>G (p.Pro365Arg) c.599C>G (p.Pro200Arg) c.-14+4163G>C (n.-14+4163G>C) | |
6 | g.31816850C>T | CA363414926 | HSPA1A,HSPA1L | c.1094C>T (p.Pro365Leu) c.599C>T (p.Pro200Leu) c.-14+4163G>A (n.-14+4163G>A) | |
6 | g.31816851C>A | CA449806145 | HSPA1A,HSPA1L | c.1095C>A (p.Pro365=) c.600C>A (p.Pro200=) c.-14+4162G>T (n.-14+4162G>T) | |
6 | g.31816851C>G | CA449806147 | HSPA1A,HSPA1L | c.1095C>G (p.Pro365=) c.600C>G (p.Pro200=) c.-14+4162G>C (n.-14+4162G>C) | |
6 | g.31816851C>T | CA449806149 | HSPA1A,HSPA1L | c.1095C>T (p.Pro365=) c.600C>T (p.Pro200=) c.-14+4162G>A (n.-14+4162G>A) | |
6 | g.31816852G>A | CA363414932 | HSPA1A,HSPA1L | c.1096G>A (p.Asp366Asn) c.601G>A (p.Asp201Asn) c.-14+4161C>T (n.-14+4161C>T) | |
6 | g.31816852G>C | CA363414930 | HSPA1A,HSPA1L | c.1096G>C (p.Asp366His) c.601G>C (p.Asp201His) c.-14+4161C>G (n.-14+4161C>G) | |
6 | g.31816852G>T | CA363414931 | HSPA1A,HSPA1L | c.1096G>T (p.Asp366Tyr) c.601G>T (p.Asp201Tyr) c.-14+4161C>A (n.-14+4161C>A) | |
6 | g.31816853A>C | CA363414935 | HSPA1A,HSPA1L | c.1097A>C (p.Asp366Ala) c.602A>C (p.Asp201Ala) c.-14+4160T>G (n.-14+4160T>G) | |
6 | g.31816853A>G | CA363414952 | HSPA1A,HSPA1L | c.1097A>G (p.Asp366Gly) c.602A>G (p.Asp201Gly) c.-14+4160T>C (n.-14+4160T>C) | |
6 | g.31816853A>T | CA363414956 | HSPA1A,HSPA1L | c.1097A>T (p.Asp366Val) c.602A>T (p.Asp201Val) c.-14+4160T>A (n.-14+4160T>A) | |
6 | g.31816854C>A | CA363414962 | HSPA1A,HSPA1L | c.1098C>A (p.Asp366Glu) c.603C>A (p.Asp201Glu) c.-14+4159G>T (n.-14+4159G>T) | |
6 | g.31816854C>G | CA363414966 | HSPA1A,HSPA1L | c.1098C>G (p.Asp366Glu) c.603C>G (p.Asp201Glu) c.-14+4159G>C (n.-14+4159G>C) | |
6 | g.31816854C>T | CA449806162 | HSPA1A,HSPA1L | c.1098C>T (p.Asp366=) c.603C>T (p.Asp201=) c.-14+4159G>A (n.-14+4159G>A) | |
6 | g.31816855G>A | CA363414968 | HSPA1A,HSPA1L | c.1099G>A (p.Glu367Lys) c.604G>A (p.Glu202Lys) c.-14+4158C>T (n.-14+4158C>T) | |
6 | g.31816855G>C | CA363414978 | HSPA1A,HSPA1L | c.1099G>C (p.Glu367Gln) c.604G>C (p.Glu202Gln) c.-14+4158C>G (n.-14+4158C>G) | |
6 | g.31816855G>T | CA363414981 | HSPA1A,HSPA1L | c.1099G>T (p.Glu367Ter) c.604G>T (p.Glu202Ter) c.-14+4158C>A (n.-14+4158C>A) | |
6 | g.31816857_31816858insTTAGAG | CA2678044519 | HSPA1A,HSPA1L | c.1101_1102insTTAGAG (p.Glu367_Ala368insLeuGlu) c.606_607insTTAGAG (p.Glu202_Ala203insLeuGlu) c.-14+4158_-14+4159insTAACTC (n.-14+4158_-14+4159insTAACTC) | gnomAD v4 |
6 | g.31816856A>C | CA363414986 | HSPA1A,HSPA1L | c.1100A>C (p.Glu367Ala) c.605A>C (p.Glu202Ala) c.-14+4157T>G (n.-14+4157T>G) | |
6 | g.31816856A>G | CA363414992 | HSPA1A,HSPA1L | c.1100A>G (p.Glu367Gly) c.605A>G (p.Glu202Gly) c.-14+4157T>C (n.-14+4157T>C) | gnomAD v4 |
6 | g.31816856A>T | CA363414988 | HSPA1A,HSPA1L | c.1100A>T (p.Glu367Val) c.605A>T (p.Glu202Val) c.-14+4157T>A (n.-14+4157T>A) | |
6 | g.31816857G>A | CA449806175 | HSPA1A,HSPA1L | c.1101G>A (p.Glu367=) c.606G>A (p.Glu202=) c.-14+4156C>T (n.-14+4156C>T) | |
6 | g.31816857G>C | CA363414997 | HSPA1A,HSPA1L | c.1101G>C (p.Glu367Asp) c.606G>C (p.Glu202Asp) c.-14+4156C>G (n.-14+4156C>G) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31816857G= | CA1619307542 | HSPA1A,HSPA1L | c.1101G= (p.Glu367=) c.606G= (p.Glu202=) c.-14+4156C= (n.-14+4156C=) | |
6 | g.31816857G>T | CA363414999 | HSPA1A,HSPA1L | c.1101G>T (p.Glu367Asp) c.606G>T (p.Glu202Asp) c.-14+4156C>A (n.-14+4156C>A) | gnomAD v4 |
6 | g.31816857_31816858insCCAGAA | CA2678044536 | HSPA1A,HSPA1L | c.1101_1102insCCAGAA (p.Glu367_Ala368insProGlu) c.606_607insCCAGAA (p.Glu202_Ala203insProGlu) c.-14+4155_-14+4156insTTCTGG (n.-14+4155_-14+4156insTTCTGG) | gnomAD v4 |
6 | g.31816858G>A | CA363415003 | HSPA1A,HSPA1L | c.1102G>A (p.Ala368Thr) c.607G>A (p.Ala203Thr) c.-14+4155C>T (n.-14+4155C>T) | |
6 | g.31816858G>C | CA363415004 | HSPA1A,HSPA1L | c.1102G>C (p.Ala368Pro) c.607G>C (p.Ala203Pro) c.-14+4155C>G (n.-14+4155C>G) | gnomAD v4 |
6 | g.31816858G>T | CA363415006 | HSPA1A,HSPA1L | c.1102G>T (p.Ala368Ser) c.607G>T (p.Ala203Ser) c.-14+4155C>A (n.-14+4155C>A) | |
6 | g.31816858_31816859insTATG | CA566692217 | HSPA1A,HSPA1L | c.1102_1103insTATG (p.Ala368ValfsTer?) c.607_608insTATG (p.Ala203ValfsTer?) c.-14+4155_-14+4156insATAC (n.-14+4155_-14+4156insATAC) | gnomAD v2 gnomAD v4 |
6 | g.31816858_31816859insAGAGTA | CA2770521537 | HSPA1A,HSPA1L | c.1102_1103insAGAGTA (p.Ala368delinsGluSerThr) c.607_608insAGAGTA (p.Ala203delinsGluSerThr) c.-14+4154_-14+4155insTACTCT (n.-14+4154_-14+4155insTACTCT) | |
6 | g.31816859C>A | CA363415011 | HSPA1A,HSPA1L | c.1103C>A (p.Ala368Asp) c.608C>A (p.Ala203Asp) c.-14+4154G>T (n.-14+4154G>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31816859C= | CA1619307543 | HSPA1A,HSPA1L | c.1103C= (p.Ala368=) c.608C= (p.Ala203=) c.-14+4154G= (n.-14+4154G=) | |
6 | g.31816859C>G | CA363415019 | HSPA1A,HSPA1L | c.1103C>G (p.Ala368Gly) c.608C>G (p.Ala203Gly) c.-14+4154G>C (n.-14+4154G>C) | gnomAD v4 |
6 | g.31816859C>T | CA363415015 | HSPA1A,HSPA1L | c.1103C>T (p.Ala368Val) c.608C>T (p.Ala203Val) c.-14+4154G>A (n.-14+4154G>A) | |
6 | g.31816859_31816860insAAGAAG | CA2770521538 | HSPA1A,HSPA1L | c.1103_1104insAAGAAG (p.Ala368_Val369insArgSer) c.608_609insAAGAAG (p.Ala203_Val204insArgSer) c.-14+4153_-14+4154insCTTCTT (n.-14+4153_-14+4154insCTTCTT) | |
6 | g.31816860T>A | CA449806185 | HSPA1A,HSPA1L | c.1104T>A (p.Ala368=) c.609T>A (p.Ala203=) c.-14+4153A>T (n.-14+4153A>T) | gnomAD v4 |
6 | g.31816860T>C | CA449806187 | HSPA1A,HSPA1L | c.1104T>C (p.Ala368=) c.609T>C (p.Ala203=) c.-14+4153A>G (n.-14+4153A>G) | |
6 | g.31816860T>G | CA449806190 | HSPA1A,HSPA1L | c.1104T>G (p.Ala368=) c.609T>G (p.Ala203=) c.-14+4153A>C (n.-14+4153A>C) | |
6 | g.31816860_31816861insCG | CA2678044547 | HSPA1A,HSPA1L | c.1104_1105insCG (p.Val369ArgfsTer13) c.609_610insCG (p.Val204ArgfsTer13) c.-14+4152_-14+4153insCG (n.-14+4152_-14+4153insCG) | gnomAD v4 |
6 | g.31816861G>A | CA363415023 | HSPA1A,HSPA1L | c.1105G>A (p.Val369Met) c.610G>A (p.Val204Met) c.-14+4152C>T (n.-14+4152C>T) | |
6 | g.31816861G>C | CA363415026 | HSPA1A,HSPA1L | c.1105G>C (p.Val369Leu) c.610G>C (p.Val204Leu) c.-14+4152C>G (n.-14+4152C>G) | |
6 | g.31816861G>T | CA363415029 | HSPA1A,HSPA1L | c.1105G>T (p.Val369Leu) c.610G>T (p.Val204Leu) c.-14+4152C>A (n.-14+4152C>A) | |
6 | g.31816862T>A | CA363415037 | HSPA1A,HSPA1L | c.1106T>A (p.Val369Glu) c.611T>A (p.Val204Glu) c.-14+4151A>T (n.-14+4151A>T) | |
6 | g.31816862T>C | CA363415038 | HSPA1A,HSPA1L | c.1106T>C (p.Val369Ala) c.611T>C (p.Val204Ala) c.-14+4151A>G (n.-14+4151A>G) | |
6 | g.31816862T>G | CA363415039 | HSPA1A,HSPA1L | c.1106T>G (p.Val369Gly) c.611T>G (p.Val204Gly) c.-14+4151A>C (n.-14+4151A>C) | |
6 | g.31816862_31816863insA | CA2678044552 | HSPA1A,HSPA1L | c.1106_1107insA (p.Ala370GlyfsTer?) c.611_612insA (p.Ala205GlyfsTer?) c.-14+4150_-14+4151insT (n.-14+4150_-14+4151insT) | gnomAD v4 |
6 | g.31816863G>A | CA449806203 | HSPA1A,HSPA1L | c.1107G>A (p.Val369=) c.612G>A (p.Val204=) c.-14+4150C>T (n.-14+4150C>T) | |
6 | g.31816863G>C | CA449806202 | HSPA1A,HSPA1L | c.1107G>C (p.Val369=) c.612G>C (p.Val204=) c.-14+4150C>G (n.-14+4150C>G) | |
6 | g.31816863G>T | CA449806201 | HSPA1A,HSPA1L | c.1107G>T (p.Val369=) c.612G>T (p.Val204=) c.-14+4150C>A (n.-14+4150C>A) | |
6 | g.31816863_31816864del | CA2678044554 | HSPA1A,HSPA1L | c.1107_1108del (p.Ala370LeufsTer?) c.612_613del (p.Ala205LeufsTer?) c.-14+4149_-14+4150del (n.-14+4149_-14+4150del) | gnomAD v4 |
6 | g.31816863_31816866delinsGGCC | CA1619307544 | HSPA1A,HSPA1L | c.1107_1110delinsGGCC (p.Val369=) c.612_615delinsGGCC (p.Val204=) c.-14+4147_-14+4150delinsGGCC (n.-14+4147_-14+4150delinsGGCC) | |
6 | g.31816864G>A | CA363415040 | HSPA1A,HSPA1L | c.1108G>A (p.Ala370Thr) c.613G>A (p.Ala205Thr) c.-14+4149C>T (n.-14+4149C>T) | gnomAD v4 |
6 | g.31816864G>C | CA363415043 | HSPA1A,HSPA1L | c.1108G>C (p.Ala370Pro) c.613G>C (p.Ala205Pro) c.-14+4149C>G (n.-14+4149C>G) | |
6 | g.31816864G>T | CA363415046 | HSPA1A,HSPA1L | c.1108G>T (p.Ala370Ser) c.613G>T (p.Ala205Ser) c.-14+4149C>A (n.-14+4149C>A) | |
6 | g.31816864_31816866del | CA566692218 | HSPA1A,HSPA1L | c.1108_1110del (p.Ala370del) c.613_615del (p.Ala205del) c.-14+4147_-14+4149del (n.-14+4147_-14+4149del) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31816865C>A | CA363415051 | HSPA1A,HSPA1L | c.1109C>A (p.Ala370Asp) c.614C>A (p.Ala205Asp) c.-14+4148G>T (n.-14+4148G>T) | |
6 | g.31816865C>G | CA363415055 | HSPA1A,HSPA1L | c.1109C>G (p.Ala370Gly) c.614C>G (p.Ala205Gly) c.-14+4148G>C (n.-14+4148G>C) | |
6 | g.31816865C>T | CA363415057 | HSPA1A,HSPA1L | c.1109C>T (p.Ala370Val) c.614C>T (p.Ala205Val) c.-14+4148G>A (n.-14+4148G>A) | gnomAD v4 |
6 | g.31816865_31816866insAGTGTAGAT | CA2678044577 | HSPA1A,HSPA1L | c.1109_1110insAGTGTAGAT (p.Ala371ValfsTer2) c.614_615insAGTGTAGAT (p.Ala206ValfsTer2) c.-14+4147_-14+4148insATCTACACT (n.-14+4147_-14+4148insATCTACACT) | gnomAD v4 |
6 | g.31816866C>A | CA449806214 | HSPA1A,HSPA1L | c.1110C>A (p.Ala370=) c.615C>A (p.Ala205=) c.-14+4147G>T (n.-14+4147G>T) | |
6 | g.31816866C>G | CA449806212 | HSPA1A,HSPA1L | c.1110C>G (p.Ala370=) c.615C>G (p.Ala205=) c.-14+4147G>C (n.-14+4147G>C) | |
6 | g.31816866C>T | CA449806211 | HSPA1A,HSPA1L | c.1110C>T (p.Ala370=) c.615C>T (p.Ala205=) c.-14+4147G>A (n.-14+4147G>A) | |
6 | g.31816867T>A | CA363415069 | HSPA1A,HSPA1L | c.1111T>A (p.Tyr371Asn) c.616T>A (p.Tyr206Asn) c.-14+4146A>T (n.-14+4146A>T) | |
6 | g.31816867T>C | CA363415065 | HSPA1A,HSPA1L | c.1111T>C (p.Tyr371His) c.616T>C (p.Tyr206His) c.-14+4146A>G (n.-14+4146A>G) | |
6 | g.31816867T>G | CA363415067 | HSPA1A,HSPA1L | c.1111T>G (p.Tyr371Asp) c.616T>G (p.Tyr206Asp) c.-14+4146A>C (n.-14+4146A>C) | gnomAD v4 |
6 | g.31816868A>C | CA363415076 | HSPA1A,HSPA1L | c.1112A>C (p.Tyr371Ser) c.617A>C (p.Tyr206Ser) c.-14+4145T>G (n.-14+4145T>G) | gnomAD v4 |
6 | g.31816868A>G | CA363415079 | HSPA1A,HSPA1L | c.1112A>G (p.Tyr371Cys) c.617A>G (p.Tyr206Cys) c.-14+4145T>C (n.-14+4145T>C) | |
6 | g.31816868A>T | CA363415082 | HSPA1A,HSPA1L | c.1112A>T (p.Tyr371Phe) c.617A>T (p.Tyr206Phe) c.-14+4145T>A (n.-14+4145T>A) | |
6 | g.31816868_31816872delinsACGGG | CA1619307545 | HSPA1A,HSPA1L | c.1112_1116delinsACGGG (p.Tyr371=) c.617_621delinsACGGG (p.Tyr206=) c.-14+4141_-14+4145delinsCCCGT (n.-14+4141_-14+4145delinsCCCGT) | |
6 | g.31816868_31816873del | CA2678044594 | HSPA1A,HSPA1L | c.1112_1117del (p.Tyr371_Ala373delinsSer) c.617_622del (p.Tyr206_Ala208delinsSer) c.-14+4140_-14+4145del (n.-14+4140_-14+4145del) | gnomAD v4 |