Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.31817160del | CA2578570477 | HSPA1A,HSPA1L | c.1404del (p.Arg469GlyfsTer8) c.909del (p.Arg304GlyfsTer8) c.-14+3857del (n.-14+3857del) | |
6 | g.31817158C>A | CA363418057 | HSPA1A,HSPA1L | c.1402C>A (p.Pro468Thr) c.907C>A (p.Pro303Thr) c.-14+3855G>T (n.-14+3855G>T) | |
6 | g.31817158C= | CA1619307594 | HSPA1A,HSPA1L | c.1402C= (p.Pro468=) c.907C= (p.Pro303=) c.-14+3855G= (n.-14+3855G=) | |
6 | g.31817158C>G | CA363418061 | HSPA1A,HSPA1L | c.1402C>G (p.Pro468Ala) c.907C>G (p.Pro303Ala) c.-14+3855G>C (n.-14+3855G>C) | |
6 | g.31817158C>T | CA363418062 | HSPA1A,HSPA1L | c.1402C>T (p.Pro468Ser) c.907C>T (p.Pro303Ser) c.-14+3855G>A (n.-14+3855G>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31817159C>A | CA363418063 | HSPA1A,HSPA1L | c.1403C>A (p.Pro468His) c.908C>A (p.Pro303His) c.-14+3854G>T (n.-14+3854G>T) | |
6 | g.31817159C>G | CA363418064 | HSPA1A,HSPA1L | c.1403C>G (p.Pro468Arg) c.908C>G (p.Pro303Arg) c.-14+3854G>C (n.-14+3854G>C) | |
6 | g.31817159C>T | CA363418067 | HSPA1A,HSPA1L | c.1403C>T (p.Pro468Leu) c.908C>T (p.Pro303Leu) c.-14+3854G>A (n.-14+3854G>A) | |
6 | g.31817160C>A | CA449806445 | HSPA1A,HSPA1L | c.1404C>A (p.Pro468=) c.909C>A (p.Pro303=) c.-14+3853G>T (n.-14+3853G>T) | gnomAD v4 |
6 | g.31817160C>G | CA449806446 | HSPA1A,HSPA1L | c.1404C>G (p.Pro468=) c.909C>G (p.Pro303=) c.-14+3853G>C (n.-14+3853G>C) | |
6 | g.31817160C>T | CA449806447 | HSPA1A,HSPA1L | c.1404C>T (p.Pro468=) c.909C>T (p.Pro303=) c.-14+3853G>A (n.-14+3853G>A) | |
6 | g.31817161A>C | CA449806448 | HSPA1A,HSPA1L | c.1405A>C (p.Arg469=) c.910A>C (p.Arg304=) c.-14+3852T>G (n.-14+3852T>G) | |
6 | g.31817161A>G | CA363418072 | HSPA1A,HSPA1L | c.1405A>G (p.Arg469Gly) c.910A>G (p.Arg304Gly) c.-14+3852T>C (n.-14+3852T>C) | |
6 | g.31817161A>T | CA363418083 | HSPA1A,HSPA1L | c.1405A>T (p.Arg469Trp) c.910A>T (p.Arg304Trp) c.-14+3852T>A (n.-14+3852T>A) | |
6 | g.31817162G>A | CA363418087 | HSPA1A,HSPA1L | c.1406G>A (p.Arg469Lys) c.911G>A (p.Arg304Lys) c.-14+3851C>T (n.-14+3851C>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31817162G>C | CA363418089 | HSPA1A,HSPA1L | c.1406G>C (p.Arg469Thr) c.911G>C (p.Arg304Thr) c.-14+3851C>G (n.-14+3851C>G) | gnomAD v4 |
6 | g.31817162G= | CA1619307595 | HSPA1A,HSPA1L | c.1406G= (p.Arg469=) c.911G= (p.Arg304=) c.-14+3851C= (n.-14+3851C=) | |
6 | g.31817162G>T | CA363418091 | HSPA1A,HSPA1L | c.1406G>T (p.Arg469Met) c.911G>T (p.Arg304Met) c.-14+3851C>A (n.-14+3851C>A) | |
6 | g.31817163G>A | CA449806449 | HSPA1A,HSPA1L | c.1407G>A (p.Arg469=) c.912G>A (p.Arg304=) c.-14+3850C>T (n.-14+3850C>T) | |
6 | g.31817163G>C | CA363418094 | HSPA1A,HSPA1L | c.1407G>C (p.Arg469Ser) c.912G>C (p.Arg304Ser) c.-14+3850C>G (n.-14+3850C>G) | |
6 | g.31817163G>T | CA363418096 | HSPA1A,HSPA1L | c.1407G>T (p.Arg469Ser) c.912G>T (p.Arg304Ser) c.-14+3850C>A (n.-14+3850C>A) | |
6 | g.31817164G>A | CA363418101 | HSPA1A,HSPA1L | c.1408G>A (p.Gly470Ser) c.913G>A (p.Gly305Ser) c.-14+3849C>T (n.-14+3849C>T) | |
6 | g.31817164G>C | CA363418104 | HSPA1A,HSPA1L | c.1408G>C (p.Gly470Arg) c.913G>C (p.Gly305Arg) c.-14+3849C>G (n.-14+3849C>G) | |
6 | g.31817164G>T | CA363418119 | HSPA1A,HSPA1L | c.1408G>T (p.Gly470Cys) c.913G>T (p.Gly305Cys) c.-14+3849C>A (n.-14+3849C>A) | |
6 | g.31817165G>A | CA363418121 | HSPA1A,HSPA1L | c.1409G>A (p.Gly470Asp) c.914G>A (p.Gly305Asp) c.-14+3848C>T (n.-14+3848C>T) | |
6 | g.31817165G>C | CA363418123 | HSPA1A,HSPA1L | c.1409G>C (p.Gly470Ala) c.914G>C (p.Gly305Ala) c.-14+3848C>G (n.-14+3848C>G) | |
6 | g.31817165G>T | CA363418125 | HSPA1A,HSPA1L | c.1409G>T (p.Gly470Val) c.914G>T (p.Gly305Val) c.-14+3848C>A (n.-14+3848C>A) | |
6 | g.31817166C>A | CA449806502 | HSPA1A,HSPA1L | c.1410C>A (p.Gly470=) c.915C>A (p.Gly305=) c.-14+3847G>T (n.-14+3847G>T) | |
6 | g.31817166C= | CA1619307596 | HSPA1A,HSPA1L | c.1410C= (p.Gly470=) c.915C= (p.Gly305=) c.-14+3847G= (n.-14+3847G=) | |
6 | g.31817166C>G | CA449806501 | HSPA1A,HSPA1L | c.1410C>G (p.Gly470=) c.915C>G (p.Gly305=) c.-14+3847G>C (n.-14+3847G>C) | |
6 | g.31817166C>T | CA449806500 | HSPA1A,HSPA1L | c.1410C>T (p.Gly470=) c.915C>T (p.Gly305=) c.-14+3847G>A (n.-14+3847G>A) | dbSNP gnomAD v4 |
6 | g.31817167G>A | CA363418130 | HSPA1A,HSPA1L | c.1411G>A (p.Val471Met) c.916G>A (p.Val306Met) c.-14+3846C>T (n.-14+3846C>T) | gnomAD v4 |
6 | g.31817167G>C | CA363418146 | HSPA1A,HSPA1L | c.1411G>C (p.Val471Leu) c.916G>C (p.Val306Leu) c.-14+3846C>G (n.-14+3846C>G) | |
6 | g.31817167G>T | CA363418161 | HSPA1A,HSPA1L | c.1411G>T (p.Val471Leu) c.916G>T (p.Val306Leu) c.-14+3846C>A (n.-14+3846C>A) | gnomAD v4 |
6 | g.31817168T>A | CA363418166 | HSPA1A,HSPA1L | c.1412T>A (p.Val471Glu) c.917T>A (p.Val306Glu) c.-14+3845A>T (n.-14+3845A>T) | |
6 | g.31817168T>C | CA363418171 | HSPA1A,HSPA1L | c.1412T>C (p.Val471Ala) c.917T>C (p.Val306Ala) c.-14+3845A>G (n.-14+3845A>G) | |
6 | g.31817168T>G | CA363418172 | HSPA1A,HSPA1L | c.1412T>G (p.Val471Gly) c.917T>G (p.Val306Gly) c.-14+3845A>C (n.-14+3845A>C) | |
6 | g.31817169G>A | CA449806504 | HSPA1A,HSPA1L | c.1413G>A (p.Val471=) c.918G>A (p.Val306=) c.-14+3844C>T (n.-14+3844C>T) | |
6 | g.31817169G>C | CA449806506 | HSPA1A,HSPA1L | c.1413G>C (p.Val471=) c.918G>C (p.Val306=) c.-14+3844C>G (n.-14+3844C>G) | |
6 | g.31817169G>T | CA449806505 | HSPA1A,HSPA1L | c.1413G>T (p.Val471=) c.918G>T (p.Val306=) c.-14+3844C>A (n.-14+3844C>A) | |
6 | g.31817170C>A | CA363418185 | HSPA1A,HSPA1L | c.1414C>A (p.Pro472Thr) c.919C>A (p.Pro307Thr) c.-14+3843G>T (n.-14+3843G>T) | gnomAD v4 |
6 | g.31817170C>G | CA363418183 | HSPA1A,HSPA1L | c.1414C>G (p.Pro472Ala) c.919C>G (p.Pro307Ala) c.-14+3843G>C (n.-14+3843G>C) | |
6 | g.31817170C>T | CA363418173 | HSPA1A,HSPA1L | c.1414C>T (p.Pro472Ser) c.919C>T (p.Pro307Ser) c.-14+3843G>A (n.-14+3843G>A) | |
6 | g.31817173del | CA2570010455 | HSPA1A,HSPA1L | c.1417del (p.Gln473ArgfsTer4) c.922del (p.Gln308ArgfsTer4) c.-14+3843del (n.-14+3843del) | |
6 | g.31817171C>A | CA363418193 | HSPA1A,HSPA1L | c.1415C>A (p.Pro472His) c.920C>A (p.Pro307His) c.-14+3842G>T (n.-14+3842G>T) | |
6 | g.31817171C>G | CA363418203 | HSPA1A,HSPA1L | c.1415C>G (p.Pro472Arg) c.920C>G (p.Pro307Arg) c.-14+3842G>C (n.-14+3842G>C) | |
6 | g.31817171C>T | CA363418198 | HSPA1A,HSPA1L | c.1415C>T (p.Pro472Leu) c.920C>T (p.Pro307Leu) c.-14+3842G>A (n.-14+3842G>A) | |
6 | g.31817172C>A | CA449806507 | HSPA1A,HSPA1L | c.1416C>A (p.Pro472=) c.921C>A (p.Pro307=) c.-14+3841G>T (n.-14+3841G>T) | |
6 | g.31817172C>G | CA449806508 | HSPA1A,HSPA1L | c.1416C>G (p.Pro472=) c.921C>G (p.Pro307=) c.-14+3841G>C (n.-14+3841G>C) | gnomAD v4 |
6 | g.31817172C>T | CA449806509 | HSPA1A,HSPA1L | c.1416C>T (p.Pro472=) c.921C>T (p.Pro307=) c.-14+3841G>A (n.-14+3841G>A) | gnomAD v4 |
6 | g.31817173C>A | CA363418213 | HSPA1A,HSPA1L | c.1417C>A (p.Gln473Lys) c.922C>A (p.Gln308Lys) c.-14+3840G>T (n.-14+3840G>T) | |
6 | g.31817173C>G | CA363418215 | HSPA1A,HSPA1L | c.1417C>G (p.Gln473Glu) c.922C>G (p.Gln308Glu) c.-14+3840G>C (n.-14+3840G>C) | |
6 | g.31817173C>T | CA363418216 | HSPA1A,HSPA1L | c.1417C>T (p.Gln473Ter) c.922C>T (p.Gln308Ter) c.-14+3840G>A (n.-14+3840G>A) | |
6 | g.31817174A>C | CA363418225 | HSPA1A,HSPA1L | c.1418A>C (p.Gln473Pro) c.923A>C (p.Gln308Pro) c.-14+3839T>G (n.-14+3839T>G) | gnomAD v4 |
6 | g.31817174A>G | CA363418230 | HSPA1A,HSPA1L | c.1418A>G (p.Gln473Arg) c.923A>G (p.Gln308Arg) c.-14+3839T>C (n.-14+3839T>C) | |
6 | g.31817174A>T | CA363418239 | HSPA1A,HSPA1L | c.1418A>T (p.Gln473Leu) c.923A>T (p.Gln308Leu) c.-14+3839T>A (n.-14+3839T>A) | |
6 | g.31817175G>A | CA449806511 | HSPA1A,HSPA1L | c.1419G>A (p.Gln473=) c.924G>A (p.Gln308=) c.-14+3838C>T (n.-14+3838C>T) | |
6 | g.31817175G>C | CA363418243 | HSPA1A,HSPA1L | c.1419G>C (p.Gln473His) c.924G>C (p.Gln308His) c.-14+3838C>G (n.-14+3838C>G) | |
6 | g.31817175G>T | CA363418244 | HSPA1A,HSPA1L | c.1419G>T (p.Gln473His) c.924G>T (p.Gln308His) c.-14+3838C>A (n.-14+3838C>A) | |
6 | g.31817176A>C | CA363418246 | HSPA1A,HSPA1L | c.1420A>C (p.Ile474Leu) c.925A>C (p.Ile309Leu) c.-14+3837T>G (n.-14+3837T>G) | |
6 | g.31817176A>G | CA363418248 | HSPA1A,HSPA1L | c.1420A>G (p.Ile474Val) c.925A>G (p.Ile309Val) c.-14+3837T>C (n.-14+3837T>C) | |
6 | g.31817176A>T | CA363418255 | HSPA1A,HSPA1L | c.1420A>T (p.Ile474Phe) c.925A>T (p.Ile309Phe) c.-14+3837T>A (n.-14+3837T>A) | |
6 | g.31817177T>A | CA363418258 | HSPA1A,HSPA1L | c.1421T>A (p.Ile474Asn) c.926T>A (p.Ile309Asn) c.-14+3836A>T (n.-14+3836A>T) | |
6 | g.31817177T>C | CA363418257 | HSPA1A,HSPA1L | c.1421T>C (p.Ile474Thr) c.926T>C (p.Ile309Thr) c.-14+3836A>G (n.-14+3836A>G) | gnomAD v4 |
6 | g.31817177T>G | CA363418256 | HSPA1A,HSPA1L | c.1421T>G (p.Ile474Ser) c.926T>G (p.Ile309Ser) c.-14+3836A>C (n.-14+3836A>C) | gnomAD v4 |
6 | g.31817178C>A | CA449806515 | HSPA1A,HSPA1L | c.1422C>A (p.Ile474=) c.927C>A (p.Ile309=) c.-14+3835G>T (n.-14+3835G>T) | gnomAD v4 |
6 | g.31817178C>G | CA363418263 | HSPA1A,HSPA1L | c.1422C>G (p.Ile474Met) c.927C>G (p.Ile309Met) c.-14+3835G>C (n.-14+3835G>C) | gnomAD v4 |
6 | g.31817178C>T | CA449806516 | HSPA1A,HSPA1L | c.1422C>T (p.Ile474=) c.927C>T (p.Ile309=) c.-14+3835G>A (n.-14+3835G>A) | gnomAD v4 |
6 | g.31817179G>A | CA363418266 | HSPA1A,HSPA1L | c.1423G>A (p.Glu475Lys) c.928G>A (p.Glu310Lys) c.-14+3834C>T (n.-14+3834C>T) | dbSNP gnomAD v4 |
6 | g.31817179G>C | CA363418276 | HSPA1A,HSPA1L | c.1423G>C (p.Glu475Gln) c.928G>C (p.Glu310Gln) c.-14+3834C>G (n.-14+3834C>G) | |
6 | g.31817179G= | CA1619307597 | HSPA1A,HSPA1L | c.1423G= (p.Glu475=) c.928G= (p.Glu310=) c.-14+3834C= (n.-14+3834C=) | |
6 | g.31817179G>T | CA363418279 | HSPA1A,HSPA1L | c.1423G>T (p.Glu475Ter) c.928G>T (p.Glu310Ter) c.-14+3834C>A (n.-14+3834C>A) | |
6 | g.31817180A>C | CA363418290 | HSPA1A,HSPA1L | c.1424A>C (p.Glu475Ala) c.929A>C (p.Glu310Ala) c.-14+3833T>G (n.-14+3833T>G) | |
6 | g.31817180A>G | CA363418292 | HSPA1A,HSPA1L | c.1424A>G (p.Glu475Gly) c.929A>G (p.Glu310Gly) c.-14+3833T>C (n.-14+3833T>C) | |
6 | g.31817180A>T | CA363418298 | HSPA1A,HSPA1L | c.1424A>T (p.Glu475Val) c.929A>T (p.Glu310Val) c.-14+3833T>A (n.-14+3833T>A) | gnomAD v4 |
6 | g.31817181G>A | CA449806519 | HSPA1A,HSPA1L | c.1425G>A (p.Glu475=) c.930G>A (p.Glu310=) c.-14+3832C>T (n.-14+3832C>T) | gnomAD v4 |
6 | g.31817181G>C | CA363418304 | HSPA1A,HSPA1L | c.1425G>C (p.Glu475Asp) c.930G>C (p.Glu310Asp) c.-14+3832C>G (n.-14+3832C>G) | |
6 | g.31817181G>T | CA363418313 | HSPA1A,HSPA1L | c.1425G>T (p.Glu475Asp) c.930G>T (p.Glu310Asp) c.-14+3832C>A (n.-14+3832C>A) | |
6 | g.31817182G>A | CA363418319 | HSPA1A,HSPA1L | c.1426G>A (p.Val476Met) c.931G>A (p.Val311Met) c.-14+3831C>T (n.-14+3831C>T) | gnomAD v4 |
6 | g.31817182G>C | CA363418325 | HSPA1A,HSPA1L | c.1426G>C (p.Val476Leu) c.931G>C (p.Val311Leu) c.-14+3831C>G (n.-14+3831C>G) | |
6 | g.31817182G>T | CA363418332 | HSPA1A,HSPA1L | c.1426G>T (p.Val476Leu) c.931G>T (p.Val311Leu) c.-14+3831C>A (n.-14+3831C>A) | |
6 | g.31817183T>A | CA363418358 | HSPA1A,HSPA1L | c.1427T>A (p.Val476Glu) c.932T>A (p.Val311Glu) c.-14+3830A>T (n.-14+3830A>T) | |
6 | g.31817183T>C | CA363418356 | HSPA1A,HSPA1L | c.1427T>C (p.Val476Ala) c.932T>C (p.Val311Ala) c.-14+3830A>G (n.-14+3830A>G) | |
6 | g.31817183T>G | CA363418352 | HSPA1A,HSPA1L | c.1427T>G (p.Val476Gly) c.932T>G (p.Val311Gly) c.-14+3830A>C (n.-14+3830A>C) | gnomAD v3 gnomAD v4 |
6 | g.31817184G>A | CA449806522 | HSPA1A,HSPA1L | c.1428G>A (p.Val476=) c.933G>A (p.Val311=) c.-14+3829C>T (n.-14+3829C>T) | |
6 | g.31817184G>C | CA449806524 | HSPA1A,HSPA1L | c.1428G>C (p.Val476=) c.933G>C (p.Val311=) c.-14+3829C>G (n.-14+3829C>G) | |
6 | g.31817184G>T | CA449806523 | HSPA1A,HSPA1L | c.1428G>T (p.Val476=) c.933G>T (p.Val311=) c.-14+3829C>A (n.-14+3829C>A) | gnomAD v4 |
6 | g.31817185A>C | CA363418359 | HSPA1A,HSPA1L | c.1429A>C (p.Thr477Pro) c.934A>C (p.Thr312Pro) c.-14+3828T>G (n.-14+3828T>G) | |
6 | g.31817185A>G | CA363418360 | HSPA1A,HSPA1L | c.1429A>G (p.Thr477Ala) c.934A>G (p.Thr312Ala) c.-14+3828T>C (n.-14+3828T>C) | |
6 | g.31817185A>T | CA363418361 | HSPA1A,HSPA1L | c.1429A>T (p.Thr477Ser) c.934A>T (p.Thr312Ser) c.-14+3828T>A (n.-14+3828T>A) | |
6 | g.31817186C>A | CA363418365 | HSPA1A,HSPA1L | c.1430C>A (p.Thr477Asn) c.935C>A (p.Thr312Asn) c.-14+3827G>T (n.-14+3827G>T) | |
6 | g.31817186C>G | CA363418366 | HSPA1A,HSPA1L | c.1430C>G (p.Thr477Ser) c.935C>G (p.Thr312Ser) c.-14+3827G>C (n.-14+3827G>C) | |
6 | g.31817186C>T | CA363418367 | HSPA1A,HSPA1L | c.1430C>T (p.Thr477Ile) c.935C>T (p.Thr312Ile) c.-14+3827G>A (n.-14+3827G>A) | gnomAD v4 |
6 | g.31817187C>A | CA449806529 | HSPA1A,HSPA1L | c.1431C>A (p.Thr477=) c.936C>A (p.Thr312=) c.-14+3826G>T (n.-14+3826G>T) | |
6 | g.31817187C= | CA1619307598 | HSPA1A,HSPA1L | c.1431C= (p.Thr477=) c.936C= (p.Thr312=) c.-14+3826G= (n.-14+3826G=) | |
6 | g.31817187C>G | CA449806530 | HSPA1A,HSPA1L | c.1431C>G (p.Thr477=) c.936C>G (p.Thr312=) c.-14+3826G>C (n.-14+3826G>C) | |
6 | g.31817187C>T | CA449806531 | HSPA1A,HSPA1L | c.1431C>T (p.Thr477=) c.936C>T (p.Thr312=) c.-14+3826G>A (n.-14+3826G>A) | dbSNP gnomAD v4 |
6 | g.31817188T>A | CA363418373 | HSPA1A,HSPA1L | c.1432T>A (p.Phe478Ile) c.937T>A (p.Phe313Ile) c.-14+3825A>T (n.-14+3825A>T) | |
6 | g.31817188T>C | CA363418368 | HSPA1A,HSPA1L | c.1432T>C (p.Phe478Leu) c.937T>C (p.Phe313Leu) c.-14+3825A>G (n.-14+3825A>G) | |
6 | g.31817188T>G | CA363418370 | HSPA1A,HSPA1L | c.1432T>G (p.Phe478Val) c.937T>G (p.Phe313Val) c.-14+3825A>C (n.-14+3825A>C) | |
6 | g.31817189T>A | CA363418377 | HSPA1A,HSPA1L | c.1433T>A (p.Phe478Tyr) c.938T>A (p.Phe313Tyr) c.-14+3824A>T (n.-14+3824A>T) | |
6 | g.31817189T>C | CA363418381 | HSPA1A,HSPA1L | c.1433T>C (p.Phe478Ser) c.938T>C (p.Phe313Ser) c.-14+3824A>G (n.-14+3824A>G) | |
6 | g.31817189T>G | CA363418382 | HSPA1A,HSPA1L | c.1433T>G (p.Phe478Cys) c.938T>G (p.Phe313Cys) c.-14+3824A>C (n.-14+3824A>C) | |
6 | g.31817189T= | CA1619307599 | HSPA1A,HSPA1L | c.1433T= (p.Phe478=) c.938T= (p.Phe313=) c.-14+3824A= (n.-14+3824A=) | |
6 | g.31817189_31817190insG | CA1619307601 | HSPA1A,HSPA1L | c.1433_1434insG (p.Phe478LeufsTer?) c.938_939insG (p.Phe313LeufsTer?) c.-14+3823_-14+3824insC (n.-14+3823_-14+3824insC) | dbSNP |
6 | g.31817190C>A | CA363418386 | HSPA1A,HSPA1L | c.1434C>A (p.Phe478Leu) c.939C>A (p.Phe313Leu) c.-14+3823G>T (n.-14+3823G>T) | dbSNP gnomAD v4 |
6 | g.31817190C= | CA1619307600 | HSPA1A,HSPA1L | c.1434C= (p.Phe478=) c.939C= (p.Phe313=) c.-14+3823G= (n.-14+3823G=) | |
6 | g.31817190C>G | CA363418396 | HSPA1A,HSPA1L | c.1434C>G (p.Phe478Leu) c.939C>G (p.Phe313Leu) c.-14+3823G>C (n.-14+3823G>C) | |
6 | g.31817190C>T | CA449806535 | HSPA1A,HSPA1L | c.1434C>T (p.Phe478=) c.939C>T (p.Phe313=) c.-14+3823G>A (n.-14+3823G>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31817191G>A | CA363418402 | HSPA1A,HSPA1L | c.1435G>A (p.Asp479Asn) c.940G>A (p.Asp314Asn) c.-14+3822C>T (n.-14+3822C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31817191G>C | CA363418404 | HSPA1A,HSPA1L | c.1435G>C (p.Asp479His) c.940G>C (p.Asp314His) c.-14+3822C>G (n.-14+3822C>G) | |
6 | g.31817191G= | CA1619307602 | HSPA1A,HSPA1L | c.1435G= (p.Asp479=) c.940G= (p.Asp314=) c.-14+3822C= (n.-14+3822C=) | |
6 | g.31817191G>T | CA363418403 | HSPA1A,HSPA1L | c.1435G>T (p.Asp479Tyr) c.940G>T (p.Asp314Tyr) c.-14+3822C>A (n.-14+3822C>A) | gnomAD v4 |
6 | g.31817192A>C | CA363418408 | HSPA1A,HSPA1L | c.1436A>C (p.Asp479Ala) c.941A>C (p.Asp314Ala) c.-14+3821T>G (n.-14+3821T>G) | |
6 | g.31817192A>G | CA363418425 | HSPA1A,HSPA1L | c.1436A>G (p.Asp479Gly) c.941A>G (p.Asp314Gly) c.-14+3821T>C (n.-14+3821T>C) | |
6 | g.31817192A>T | CA363418428 | HSPA1A,HSPA1L | c.1436A>T (p.Asp479Val) c.941A>T (p.Asp314Val) c.-14+3821T>A (n.-14+3821T>A) | |
6 | g.31817193C>A | CA363418433 | HSPA1A,HSPA1L | c.1437C>A (p.Asp479Glu) c.942C>A (p.Asp314Glu) c.-14+3820G>T (n.-14+3820G>T) | |
6 | g.31817193C= | CA1619307603 | HSPA1A,HSPA1L | c.1437C= (p.Asp479=) c.942C= (p.Asp314=) c.-14+3820G= (n.-14+3820G=) | |
6 | g.31817193C>G | CA363418437 | HSPA1A,HSPA1L | c.1437C>G (p.Asp479Glu) c.942C>G (p.Asp314Glu) c.-14+3820G>C (n.-14+3820G>C) | |
6 | g.31817193C>T | CA449806539 | HSPA1A,HSPA1L | c.1437C>T (p.Asp479=) c.942C>T (p.Asp314=) c.-14+3820G>A (n.-14+3820G>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.31817194A>C | CA363418441 | HSPA1A,HSPA1L | c.1438A>C (p.Ile480Leu) c.943A>C (p.Ile315Leu) c.-14+3819T>G (n.-14+3819T>G) | |
6 | g.31817194A>G | CA363418445 | HSPA1A,HSPA1L | c.1438A>G (p.Ile480Val) c.943A>G (p.Ile315Val) c.-14+3819T>C (n.-14+3819T>C) | |
6 | g.31817194A>T | CA363418461 | HSPA1A,HSPA1L | c.1438A>T (p.Ile480Phe) c.943A>T (p.Ile315Phe) c.-14+3819T>A (n.-14+3819T>A) | |
6 | g.31817195T>A | CA363418474 | HSPA1A,HSPA1L | c.1439T>A (p.Ile480Asn) c.944T>A (p.Ile315Asn) c.-14+3818A>T (n.-14+3818A>T) | gnomAD v4 |
6 | g.31817195T>C | CA363418484 | HSPA1A,HSPA1L | c.1439T>C (p.Ile480Thr) c.944T>C (p.Ile315Thr) c.-14+3818A>G (n.-14+3818A>G) | |
6 | g.31817195T>G | CA363418490 | HSPA1A,HSPA1L | c.1439T>G (p.Ile480Ser) c.944T>G (p.Ile315Ser) c.-14+3818A>C (n.-14+3818A>C) | |
6 | g.31817195_31817204delinsTCGATGCCAA | CA1619307604 | HSPA1A,HSPA1L | c.1439_1448delinsTCGATGCCAA (p.Ile480=) c.944_953delinsTCGATGCCAA (p.Ile315=) c.-14+3809_-14+3818delinsTTGGCATCGA (n.-14+3809_-14+3818delinsTTGGCATCGA) | |
6 | g.31817196C>A | CA449806543 | HSPA1A,HSPA1L | c.1440C>A (p.Ile480=) c.945C>A (p.Ile315=) c.-14+3817G>T (n.-14+3817G>T) | gnomAD v4 |
6 | g.31817196C= | CA1619307606 | HSPA1A,HSPA1L | c.1440C= (p.Ile480=) c.945C= (p.Ile315=) c.-14+3817G= (n.-14+3817G=) | |
6 | g.31817196C>G | CA363418494 | HSPA1A,HSPA1L | c.1440C>G (p.Ile480Met) c.945C>G (p.Ile315Met) c.-14+3817G>C (n.-14+3817G>C) | gnomAD v4 |
6 | g.31817196C>T | CA449806544 | HSPA1A,HSPA1L | c.1440C>T (p.Ile480=) c.945C>T (p.Ile315=) c.-14+3817G>A (n.-14+3817G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31817198_31817206del | CA1619307605 | HSPA1A,HSPA1L | c.1442_1450del (p.Asp481_Asn483del) c.947_955del (p.Asp316_Asn318del) c.-14+3809_-14+3817del (n.-14+3809_-14+3817del) | dbSNP |
6 | g.31817197G>A | CA363418511 | HSPA1A,HSPA1L | c.1441G>A (p.Asp481Asn) c.946G>A (p.Asp316Asn) c.-14+3816C>T (n.-14+3816C>T) | gnomAD v4 |
6 | g.31817197G>C | CA363418502 | HSPA1A,HSPA1L | c.1441G>C (p.Asp481His) c.946G>C (p.Asp316His) c.-14+3816C>G (n.-14+3816C>G) | |
6 | g.31817197G>T | CA363418514 | HSPA1A,HSPA1L | c.1441G>T (p.Asp481Tyr) c.946G>T (p.Asp316Tyr) c.-14+3816C>A (n.-14+3816C>A) | gnomAD v4 |
6 | g.31817198A= | CA1619307607 | HSPA1A,HSPA1L | c.1442A= (p.Asp481=) c.947A= (p.Asp316=) c.-14+3815T= (n.-14+3815T=) | |
6 | g.31817198A>C | CA363418524 | HSPA1A,HSPA1L | c.1442A>C (p.Asp481Ala) c.947A>C (p.Asp316Ala) c.-14+3815T>G (n.-14+3815T>G) | |
6 | g.31817198A>G | CA363418549 | HSPA1A,HSPA1L | c.1442A>G (p.Asp481Gly) c.947A>G (p.Asp316Gly) c.-14+3815T>C (n.-14+3815T>C) | |
6 | g.31817198A>T | CA363418545 | HSPA1A,HSPA1L | c.1442A>T (p.Asp481Val) c.947A>T (p.Asp316Val) c.-14+3815T>A (n.-14+3815T>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.31817199T>A | CA363418551 | HSPA1A,HSPA1L | c.1443T>A (p.Asp481Glu) c.948T>A (p.Asp316Glu) c.-14+3814A>T (n.-14+3814A>T) | |
6 | g.31817199T>C | CA449806547 | HSPA1A,HSPA1L | c.1443T>C (p.Asp481=) c.948T>C (p.Asp316=) c.-14+3814A>G (n.-14+3814A>G) | |
6 | g.31817199T>G | CA363418553 | HSPA1A,HSPA1L | c.1443T>G (p.Asp481Glu) c.948T>G (p.Asp316Glu) c.-14+3814A>C (n.-14+3814A>C) | |
6 | g.31817200G>A | CA363418555 | HSPA1A,HSPA1L | c.1444G>A (p.Ala482Thr) c.949G>A (p.Ala317Thr) c.-14+3813C>T (n.-14+3813C>T) | gnomAD v4 |
6 | g.31817200G>C | CA363418557 | HSPA1A,HSPA1L | c.1444G>C (p.Ala482Pro) c.949G>C (p.Ala317Pro) c.-14+3813C>G (n.-14+3813C>G) | |
6 | g.31817200G>T | CA363418560 | HSPA1A,HSPA1L | c.1444G>T (p.Ala482Ser) c.949G>T (p.Ala317Ser) c.-14+3813C>A (n.-14+3813C>A) | |
6 | g.31817201C>A | CA363418571 | HSPA1A,HSPA1L | c.1445C>A (p.Ala482Asp) c.950C>A (p.Ala317Asp) c.-14+3812G>T (n.-14+3812G>T) | |
6 | g.31817201C>G | CA363418578 | HSPA1A,HSPA1L | c.1445C>G (p.Ala482Gly) c.950C>G (p.Ala317Gly) c.-14+3812G>C (n.-14+3812G>C) | |
6 | g.31817201C>T | CA363418584 | HSPA1A,HSPA1L | c.1445C>T (p.Ala482Val) c.950C>T (p.Ala317Val) c.-14+3812G>A (n.-14+3812G>A) | |
6 | g.31817202C>A | CA449806549 | HSPA1A,HSPA1L | c.1446C>A (p.Ala482=) c.951C>A (p.Ala317=) c.-14+3811G>T (n.-14+3811G>T) | gnomAD v4 |
6 | g.31817202C>G | CA449806550 | HSPA1A,HSPA1L | c.1446C>G (p.Ala482=) c.951C>G (p.Ala317=) c.-14+3811G>C (n.-14+3811G>C) | |
6 | g.31817202C>T | CA449806552 | HSPA1A,HSPA1L | c.1446C>T (p.Ala482=) c.951C>T (p.Ala317=) c.-14+3811G>A (n.-14+3811G>A) | |
6 | g.31817203A>C | CA363418591 | HSPA1A,HSPA1L | c.1447A>C (p.Asn483His) c.952A>C (p.Asn318His) c.-14+3810T>G (n.-14+3810T>G) | |
6 | g.31817203A>G | CA363418611 | HSPA1A,HSPA1L | c.1447A>G (p.Asn483Asp) c.952A>G (p.Asn318Asp) c.-14+3810T>C (n.-14+3810T>C) | |
6 | g.31817203A>T | CA363418612 | HSPA1A,HSPA1L | c.1447A>T (p.Asn483Tyr) c.952A>T (p.Asn318Tyr) c.-14+3810T>A (n.-14+3810T>A) | |
6 | g.31817204A>C | CA363418619 | HSPA1A,HSPA1L | c.1448A>C (p.Asn483Thr) c.953A>C (p.Asn318Thr) c.-14+3809T>G (n.-14+3809T>G) | |
6 | g.31817204A>G | CA363418626 | HSPA1A,HSPA1L | c.1448A>G (p.Asn483Ser) c.953A>G (p.Asn318Ser) c.-14+3809T>C (n.-14+3809T>C) | gnomAD v4 |
6 | g.31817204A>T | CA363418630 | HSPA1A,HSPA1L | c.1448A>T (p.Asn483Ile) c.953A>T (p.Asn318Ile) c.-14+3809T>A (n.-14+3809T>A) | |
6 | g.31817205C>A | CA363418656 | HSPA1A,HSPA1L | c.1449C>A (p.Asn483Lys) c.954C>A (p.Asn318Lys) c.-14+3808G>T (n.-14+3808G>T) | gnomAD v4 |
6 | g.31817205C= | CA1619307608 | HSPA1A,HSPA1L | c.1449C= (p.Asn483=) c.954C= (p.Asn318=) c.-14+3808G= (n.-14+3808G=) | |
6 | g.31817205C>G | CA363418646 | HSPA1A,HSPA1L | c.1449C>G (p.Asn483Lys) c.954C>G (p.Asn318Lys) c.-14+3808G>C (n.-14+3808G>C) | |
6 | g.31817205C>T | CA449806556 | HSPA1A,HSPA1L | c.1449C>T (p.Asn483=) c.954C>T (p.Asn318=) c.-14+3808G>A (n.-14+3808G>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31817206G>A | CA363418675 | HSPA1A,HSPA1L | c.1450G>A (p.Gly484Ser) c.955G>A (p.Gly319Ser) c.-14+3807C>T (n.-14+3807C>T) | COSMIC |
6 | g.31817206G>C | CA363418679 | HSPA1A,HSPA1L | c.1450G>C (p.Gly484Arg) c.955G>C (p.Gly319Arg) c.-14+3807C>G (n.-14+3807C>G) | |
6 | g.31817206G>T | CA363418681 | HSPA1A,HSPA1L | c.1450G>T (p.Gly484Cys) c.955G>T (p.Gly319Cys) c.-14+3807C>A (n.-14+3807C>A) | gnomAD v4 |
6 | g.31817207G>A | CA363418684 | HSPA1A,HSPA1L | c.1451G>A (p.Gly484Asp) c.956G>A (p.Gly319Asp) c.-14+3806C>T (n.-14+3806C>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.31817207G>C | CA363418690 | HSPA1A,HSPA1L | c.1451G>C (p.Gly484Ala) c.956G>C (p.Gly319Ala) c.-14+3806C>G (n.-14+3806C>G) | |
6 | g.31817207G= | CA1619307609 | HSPA1A,HSPA1L | c.1451G= (p.Gly484=) c.956G= (p.Gly319=) c.-14+3806C= (n.-14+3806C=) | |
6 | g.31817207G>T | CA363418695 | HSPA1A,HSPA1L | c.1451G>T (p.Gly484Val) c.956G>T (p.Gly319Val) c.-14+3806C>A (n.-14+3806C>A) | |
6 | g.31817208C>A | CA449806562 | HSPA1A,HSPA1L | c.1452C>A (p.Gly484=) c.957C>A (p.Gly319=) c.-14+3805G>T (n.-14+3805G>T) | gnomAD v4 |
6 | g.31817208C= | CA1619307610 | HSPA1A,HSPA1L | c.1452C= (p.Gly484=) c.957C= (p.Gly319=) c.-14+3805G= (n.-14+3805G=) | |
6 | g.31817208C>G | CA449806560 | HSPA1A,HSPA1L | c.1452C>G (p.Gly484=) c.957C>G (p.Gly319=) c.-14+3805G>C (n.-14+3805G>C) | |
6 | g.31817208C>T | CA449806561 | HSPA1A,HSPA1L | c.1452C>T (p.Gly484=) c.957C>T (p.Gly319=) c.-14+3805G>A (n.-14+3805G>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.31817209A>C | CA363418708 | HSPA1A,HSPA1L | c.1453A>C (p.Ile485Leu) c.958A>C (p.Ile320Leu) c.-14+3804T>G (n.-14+3804T>G) | |
6 | g.31817209A>G | CA363418714 | HSPA1A,HSPA1L | c.1453A>G (p.Ile485Val) c.958A>G (p.Ile320Val) c.-14+3804T>C (n.-14+3804T>C) | |
6 | g.31817209A>T | CA363418732 | HSPA1A,HSPA1L | c.1453A>T (p.Ile485Phe) c.958A>T (p.Ile320Phe) c.-14+3804T>A (n.-14+3804T>A) | |
6 | g.31817210T>A | CA363418742 | HSPA1A,HSPA1L | c.1454T>A (p.Ile485Asn) c.959T>A (p.Ile320Asn) c.-14+3803A>T (n.-14+3803A>T) | |
6 | g.31817210T>C | CA363418746 | HSPA1A,HSPA1L | c.1454T>C (p.Ile485Thr) c.959T>C (p.Ile320Thr) c.-14+3803A>G (n.-14+3803A>G) | |
6 | g.31817210T>G | CA363418750 | HSPA1A,HSPA1L | c.1454T>G (p.Ile485Ser) c.959T>G (p.Ile320Ser) c.-14+3803A>C (n.-14+3803A>C) | |
6 | g.31817211C>A | CA449806566 | HSPA1A,HSPA1L | c.1455C>A (p.Ile485=) c.960C>A (p.Ile320=) c.-14+3802G>T (n.-14+3802G>T) | |
6 | g.31817211C= | CA1619307611 | HSPA1A,HSPA1L | c.1455C= (p.Ile485=) c.960C= (p.Ile320=) c.-14+3802G= (n.-14+3802G=) | |
6 | g.31817211C>G | CA363418759 | HSPA1A,HSPA1L | c.1455C>G (p.Ile485Met) c.960C>G (p.Ile320Met) c.-14+3802G>C (n.-14+3802G>C) | |
6 | g.31817211C>T | CA449806567 | HSPA1A,HSPA1L | c.1455C>T (p.Ile485=) c.960C>T (p.Ile320=) c.-14+3802G>A (n.-14+3802G>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31817212C>A | CA363418800 | HSPA1A,HSPA1L | c.1456C>A (p.Leu486Met) c.961C>A (p.Leu321Met) c.-14+3801G>T (n.-14+3801G>T) | |
6 | g.31817212C>G | CA363418801 | HSPA1A,HSPA1L | c.1456C>G (p.Leu486Val) c.961C>G (p.Leu321Val) c.-14+3801G>C (n.-14+3801G>C) | gnomAD v4 |
6 | g.31817212C>T | CA449806571 | HSPA1A,HSPA1L | c.1456C>T (p.Leu486=) c.961C>T (p.Leu321=) c.-14+3801G>A (n.-14+3801G>A) | |
6 | g.31817213T>A | CA363418803 | HSPA1A,HSPA1L | c.1457T>A (p.Leu486Gln) c.962T>A (p.Leu321Gln) c.-14+3800A>T (n.-14+3800A>T) | |
6 | g.31817213T>C | CA363418804 | HSPA1A,HSPA1L | c.1457T>C (p.Leu486Pro) c.962T>C (p.Leu321Pro) c.-14+3800A>G (n.-14+3800A>G) | |
6 | g.31817213T>G | CA363418811 | HSPA1A,HSPA1L | c.1457T>G (p.Leu486Arg) c.962T>G (p.Leu321Arg) c.-14+3800A>C (n.-14+3800A>C) | |
6 | g.31817214G>A | CA449806575 | HSPA1A,HSPA1L | c.1458G>A (p.Leu486=) c.963G>A (p.Leu321=) c.-14+3799C>T (n.-14+3799C>T) | |
6 | g.31817214G>C | CA449806577 | HSPA1A,HSPA1L | c.1458G>C (p.Leu486=) c.963G>C (p.Leu321=) c.-14+3799C>G (n.-14+3799C>G) | |
6 | g.31817214G>T | CA449806580 | HSPA1A,HSPA1L | c.1458G>T (p.Leu486=) c.963G>T (p.Leu321=) c.-14+3799C>A (n.-14+3799C>A) | |
6 | g.31817215A>C | CA363418818 | HSPA1A,HSPA1L | c.1459A>C (p.Asn487His) c.964A>C (p.Asn322His) c.-14+3798T>G (n.-14+3798T>G) | |
6 | g.31817215A>G | CA363418822 | HSPA1A,HSPA1L | c.1459A>G (p.Asn487Asp) c.964A>G (p.Asn322Asp) c.-14+3798T>C (n.-14+3798T>C) | gnomAD v4 |
6 | g.31817215A>T | CA363418830 | HSPA1A,HSPA1L | c.1459A>T (p.Asn487Tyr) c.964A>T (p.Asn322Tyr) c.-14+3798T>A (n.-14+3798T>A) | |
6 | g.31817216A= | CA1619307612 | HSPA1A,HSPA1L | c.1460A= (p.Asn487=) c.965A= (p.Asn322=) c.-14+3797T= (n.-14+3797T=) | |
6 | g.31817216A>C | CA363418836 | HSPA1A,HSPA1L | c.1460A>C (p.Asn487Thr) c.965A>C (p.Asn322Thr) c.-14+3797T>G (n.-14+3797T>G) | |
6 | g.31817216A>G | CA363418841 | HSPA1A,HSPA1L | c.1460A>G (p.Asn487Ser) c.965A>G (p.Asn322Ser) c.-14+3797T>C (n.-14+3797T>C) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31817216A>T | CA363418850 | HSPA1A,HSPA1L | c.1460A>T (p.Asn487Ile) c.965A>T (p.Asn322Ile) c.-14+3797T>A (n.-14+3797T>A) | |
6 | g.31817217C>A | CA363418853 | HSPA1A,HSPA1L | c.1461C>A (p.Asn487Lys) c.966C>A (p.Asn322Lys) c.-14+3796G>T (n.-14+3796G>T) | gnomAD v4 |
6 | g.31817217C= | CA1619307613 | HSPA1A,HSPA1L | c.1461C= (p.Asn487=) c.966C= (p.Asn322=) c.-14+3796G= (n.-14+3796G=) | |
6 | g.31817217C>G | CA363418856 | HSPA1A,HSPA1L | c.1461C>G (p.Asn487Lys) c.966C>G (p.Asn322Lys) c.-14+3796G>C (n.-14+3796G>C) | gnomAD v4 |
6 | g.31817217C>T | CA449806583 | HSPA1A,HSPA1L | c.1461C>T (p.Asn487=) c.966C>T (p.Asn322=) c.-14+3796G>A (n.-14+3796G>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.31817218G>A | CA363418895 | HSPA1A,HSPA1L | c.1462G>A (p.Val488Ile) c.967G>A (p.Val323Ile) c.-14+3795C>T (n.-14+3795C>T) | gnomAD v4 |
6 | g.31817218G>C | CA363418876 | HSPA1A,HSPA1L | c.1462G>C (p.Val488Leu) c.967G>C (p.Val323Leu) c.-14+3795C>G (n.-14+3795C>G) | |
6 | g.31817218G>T | CA363418872 | HSPA1A,HSPA1L | c.1462G>T (p.Val488Phe) c.967G>T (p.Val323Phe) c.-14+3795C>A (n.-14+3795C>A) | |
6 | g.31817219T>A | CA363418911 | HSPA1A,HSPA1L | c.1463T>A (p.Val488Asp) c.968T>A (p.Val323Asp) c.-14+3794A>T (n.-14+3794A>T) | |
6 | g.31817219T>C | CA363418916 | HSPA1A,HSPA1L | c.1463T>C (p.Val488Ala) c.968T>C (p.Val323Ala) c.-14+3794A>G (n.-14+3794A>G) | |
6 | g.31817219T>G | CA363418923 | HSPA1A,HSPA1L | c.1463T>G (p.Val488Gly) c.968T>G (p.Val323Gly) c.-14+3794A>C (n.-14+3794A>C) | |
6 | g.31817220C>A | CA449806591 | HSPA1A,HSPA1L | c.1464C>A (p.Val488=) c.969C>A (p.Val323=) c.-14+3793G>T (n.-14+3793G>T) | gnomAD v4 |
6 | g.31817220C>G | CA449806593 | HSPA1A,HSPA1L | c.1464C>G (p.Val488=) c.969C>G (p.Val323=) c.-14+3793G>C (n.-14+3793G>C) | |
6 | g.31817220C>T | CA449806594 | HSPA1A,HSPA1L | c.1464C>T (p.Val488=) c.969C>T (p.Val323=) c.-14+3793G>A (n.-14+3793G>A) | |
6 | g.31817221A= | CA1619307614 | HSPA1A,HSPA1L | c.1465A= (p.Thr489=) c.970A= (p.Thr324=) c.-14+3792T= (n.-14+3792T=) | |
6 | g.31817221A>C | CA363418927 | HSPA1A,HSPA1L | c.1465A>C (p.Thr489Pro) c.970A>C (p.Thr324Pro) c.-14+3792T>G (n.-14+3792T>G) | gnomAD v4 |
6 | g.31817221A>G | CA363418938 | HSPA1A,HSPA1L | c.1465A>G (p.Thr489Ala) c.970A>G (p.Thr324Ala) c.-14+3792T>C (n.-14+3792T>C) | dbSNP |
6 | g.31817221A>T | CA363418947 | HSPA1A,HSPA1L | c.1465A>T (p.Thr489Ser) c.970A>T (p.Thr324Ser) c.-14+3792T>A (n.-14+3792T>A) | |
6 | g.31817222C>A | CA363418953 | HSPA1A,HSPA1L | c.1466C>A (p.Thr489Lys) c.971C>A (p.Thr324Lys) c.-14+3791G>T (n.-14+3791G>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.31817222C= | CA1619307615 | HSPA1A,HSPA1L | c.1466C= (p.Thr489=) c.971C= (p.Thr324=) c.-14+3791G= (n.-14+3791G=) | |
6 | g.31817222C>G | CA363418955 | HSPA1A,HSPA1L | c.1466C>G (p.Thr489Arg) c.971C>G (p.Thr324Arg) c.-14+3791G>C (n.-14+3791G>C) | |
6 | g.31817222C>T | CA363418958 | HSPA1A,HSPA1L | c.1466C>T (p.Thr489Met) c.971C>T (p.Thr324Met) c.-14+3791G>A (n.-14+3791G>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.31817223G>A | CA449806598 | HSPA1A,HSPA1L | c.1467G>A (p.Thr489=) c.972G>A (p.Thr324=) c.-14+3790C>T (n.-14+3790C>T) | gnomAD v4 |
6 | g.31817223G>C | CA449806600 | HSPA1A,HSPA1L | c.1467G>C (p.Thr489=) c.972G>C (p.Thr324=) c.-14+3790C>G (n.-14+3790C>G) | |
6 | g.31817223G>T | CA449806601 | HSPA1A,HSPA1L | c.1467G>T (p.Thr489=) c.972G>T (p.Thr324=) c.-14+3790C>A (n.-14+3790C>A) | |
6 | g.31817224del | CA2832544491 | HSPA1A,HSPA1L | c.1468del (p.Ala490ProfsTer21) c.973del (p.Ala325ProfsTer21) c.-14+3790del (n.-14+3790del) | |
6 | g.31817224G>A | CA363418963 | HSPA1A,HSPA1L | c.1468G>A (p.Ala490Thr) c.973G>A (p.Ala325Thr) c.-14+3789C>T (n.-14+3789C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31817224G>C | CA363418967 | HSPA1A,HSPA1L | c.1468G>C (p.Ala490Pro) c.973G>C (p.Ala325Pro) c.-14+3789C>G (n.-14+3789C>G) | |
6 | g.31817224G= | CA1619307616 | HSPA1A,HSPA1L | c.1468G= (p.Ala490=) c.973G= (p.Ala325=) c.-14+3789C= (n.-14+3789C=) | |
6 | g.31817224G>T | CA363418971 | HSPA1A,HSPA1L | c.1468G>T (p.Ala490Ser) c.973G>T (p.Ala325Ser) c.-14+3789C>A (n.-14+3789C>A) | |
6 | g.31817225C>A | CA363418978 | HSPA1A,HSPA1L | c.1469C>A (p.Ala490Asp) c.974C>A (p.Ala325Asp) c.-14+3788G>T (n.-14+3788G>T) | gnomAD v4 |
6 | g.31817225C= | CA1619307617 | HSPA1A,HSPA1L | c.1469C= (p.Ala490=) c.974C= (p.Ala325=) c.-14+3788G= (n.-14+3788G=) | |
6 | g.31817225C>G | CA363418977 | HSPA1A,HSPA1L | c.1469C>G (p.Ala490Gly) c.974C>G (p.Ala325Gly) c.-14+3788G>C (n.-14+3788G>C) | |
6 | g.31817225C>T | CA363418976 | HSPA1A,HSPA1L | c.1469C>T (p.Ala490Val) c.974C>T (p.Ala325Val) c.-14+3788G>A (n.-14+3788G>A) | dbSNP gnomAD v4 |
6 | g.31817225_31817238dup | CA2678045961 | HSPA1A,HSPA1L | c.1469_1482dup (p.Thr495ProfsTer21) c.974_987dup (p.Thr330ProfsTer21) c.-14+3775_-14+3788dup (n.-14+3775_-14+3788dup) | gnomAD v4 |
6 | g.31817226C>A | CA449806605 | HSPA1A,HSPA1L | c.1470C>A (p.Ala490=) c.975C>A (p.Ala325=) c.-14+3787G>T (n.-14+3787G>T) | gnomAD v4 |
6 | g.31817226C>G | CA449806607 | HSPA1A,HSPA1L | c.1470C>G (p.Ala490=) c.975C>G (p.Ala325=) c.-14+3787G>C (n.-14+3787G>C) | |
6 | g.31817226C>T | CA449806606 | HSPA1A,HSPA1L | c.1470C>T (p.Ala490=) c.975C>T (p.Ala325=) c.-14+3787G>A (n.-14+3787G>A) | gnomAD v4 |
6 | g.31817227A>C | CA363418984 | HSPA1A,HSPA1L | c.1471A>C (p.Thr491Pro) c.976A>C (p.Thr326Pro) c.-14+3786T>G (n.-14+3786T>G) | |
6 | g.31817227A>G | CA363418985 | HSPA1A,HSPA1L | c.1471A>G (p.Thr491Ala) c.976A>G (p.Thr326Ala) c.-14+3786T>C (n.-14+3786T>C) | |
6 | g.31817227A>T | CA363418986 | HSPA1A,HSPA1L | c.1471A>T (p.Thr491Ser) c.976A>T (p.Thr326Ser) c.-14+3786T>A (n.-14+3786T>A) | gnomAD v4 |
6 | g.31817228C>A | CA363418987 | HSPA1A,HSPA1L | c.1472C>A (p.Thr491Lys) c.977C>A (p.Thr326Lys) c.-14+3785G>T (n.-14+3785G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31817228C= | CA1619307618 | HSPA1A,HSPA1L | c.1472C= (p.Thr491=) c.977C= (p.Thr326=) c.-14+3785G= (n.-14+3785G=) | |
6 | g.31817228C>G | CA363418988 | HSPA1A,HSPA1L | c.1472C>G (p.Thr491Arg) c.977C>G (p.Thr326Arg) c.-14+3785G>C (n.-14+3785G>C) | |
6 | g.31817228C>T | CA363418989 | HSPA1A,HSPA1L | c.1472C>T (p.Thr491Met) c.977C>T (p.Thr326Met) c.-14+3785G>A (n.-14+3785G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31817229G>A | CA449806612 | HSPA1A,HSPA1L | c.1473G>A (p.Thr491=) c.978G>A (p.Thr326=) c.-14+3784C>T (n.-14+3784C>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31817229G>C | CA449806615 | HSPA1A,HSPA1L | c.1473G>C (p.Thr491=) c.978G>C (p.Thr326=) c.-14+3784C>G (n.-14+3784C>G) | |
6 | g.31817229G= | CA1619307619 | HSPA1A,HSPA1L | c.1473G= (p.Thr491=) c.978G= (p.Thr326=) c.-14+3784C= (n.-14+3784C=) | |
6 | g.31817229G>T | CA449806613 | HSPA1A,HSPA1L | c.1473G>T (p.Thr491=) c.978G>T (p.Thr326=) c.-14+3784C>A (n.-14+3784C>A) | |
6 | g.31817230G>A | CA363419017 | HSPA1A,HSPA1L | c.1474G>A (p.Asp492Asn) c.979G>A (p.Asp327Asn) c.-14+3783C>T (n.-14+3783C>T) | |
6 | g.31817230G>C | CA363418991 | HSPA1A,HSPA1L | c.1474G>C (p.Asp492His) c.979G>C (p.Asp327His) c.-14+3783C>G (n.-14+3783C>G) | |
6 | g.31817230G>T | CA363418994 | HSPA1A,HSPA1L | c.1474G>T (p.Asp492Tyr) c.979G>T (p.Asp327Tyr) c.-14+3783C>A (n.-14+3783C>A) | |
6 | g.31817231A= | CA1619307620 | HSPA1A,HSPA1L | c.1475A= (p.Asp492=) c.980A= (p.Asp327=) c.-14+3782T= (n.-14+3782T=) | |
6 | g.31817231A>C | CA363419040 | HSPA1A,HSPA1L | c.1475A>C (p.Asp492Ala) c.980A>C (p.Asp327Ala) c.-14+3782T>G (n.-14+3782T>G) | |
6 | g.31817231A>G | CA363419042 | HSPA1A,HSPA1L | c.1475A>G (p.Asp492Gly) c.980A>G (p.Asp327Gly) c.-14+3782T>C (n.-14+3782T>C) | |
6 | g.31817231A>T | CA363419046 | HSPA1A,HSPA1L | c.1475A>T (p.Asp492Val) c.980A>T (p.Asp327Val) c.-14+3782T>A (n.-14+3782T>A) | dbSNP gnomAD v4 |
6 | g.31817232C>A | CA363419050 | HSPA1A,HSPA1L | c.1476C>A (p.Asp492Glu) c.981C>A (p.Asp327Glu) c.-14+3781G>T (n.-14+3781G>T) | gnomAD v4 |
6 | g.31817232C>G | CA363419054 | HSPA1A,HSPA1L | c.1476C>G (p.Asp492Glu) c.981C>G (p.Asp327Glu) c.-14+3781G>C (n.-14+3781G>C) | |
6 | g.31817232C>T | CA449806621 | HSPA1A,HSPA1L | c.1476C>T (p.Asp492=) c.981C>T (p.Asp327=) c.-14+3781G>A (n.-14+3781G>A) | |
6 | g.31817232_31817234delinsCAA | CA1619307621 | HSPA1A,HSPA1L | c.1476_1478delinsCAA (p.Asp492=) c.981_983delinsCAA (p.Asp327=) c.-14+3779_-14+3781delinsTTG (n.-14+3779_-14+3781delinsTTG) | |
6 | g.31817233A= | CA1619307622 | HSPA1A,HSPA1L | c.1477A= (p.Lys493=) c.982A= (p.Lys328=) c.-14+3780T= (n.-14+3780T=) | |
6 | g.31817233A>C | CA363419069 | HSPA1A,HSPA1L | c.1477A>C (p.Lys493Gln) c.982A>C (p.Lys328Gln) c.-14+3780T>G (n.-14+3780T>G) | |
6 | g.31817233A>G | CA363419059 | HSPA1A,HSPA1L | c.1477A>G (p.Lys493Glu) c.982A>G (p.Lys328Glu) c.-14+3780T>C (n.-14+3780T>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.31817233A>T | CA363419062 | HSPA1A,HSPA1L | c.1477A>T (p.Lys493Ter) c.982A>T (p.Lys328Ter) c.-14+3780T>A (n.-14+3780T>A) | |
6 | g.31817233_31817234del | CA566692202 | HSPA1A,HSPA1L | c.1477_1478del (p.Lys493GlufsTer?) c.982_983del (p.Lys328GlufsTer?) c.-14+3779_-14+3780del (n.-14+3779_-14+3780del) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31817234_31817236del | CA2678045994 | HSPA1A,HSPA1L | c.1478_1480del (p.Lys493del) c.983_985del (p.Lys328del) c.-14+3778_-14+3780del (n.-14+3778_-14+3780del) | gnomAD v4 |
6 | g.31817234A>C | CA363419071 | HSPA1A,HSPA1L | c.1478A>C (p.Lys493Thr) c.983A>C (p.Lys328Thr) c.-14+3779T>G (n.-14+3779T>G) | |
6 | g.31817234A>G | CA363419072 | HSPA1A,HSPA1L | c.1478A>G (p.Lys493Arg) c.983A>G (p.Lys328Arg) c.-14+3779T>C (n.-14+3779T>C) | |
6 | g.31817234A>T | CA363419073 | HSPA1A,HSPA1L | c.1478A>T (p.Lys493Met) c.983A>T (p.Lys328Met) c.-14+3779T>A (n.-14+3779T>A) | |
6 | g.31817235G>A | CA449806626 | HSPA1A,HSPA1L | c.1479G>A (p.Lys493=) c.984G>A (p.Lys328=) c.-14+3778C>T (n.-14+3778C>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31817235G>C | CA363419079 | HSPA1A,HSPA1L | c.1479G>C (p.Lys493Asn) c.984G>C (p.Lys328Asn) c.-14+3778C>G (n.-14+3778C>G) | |
6 | g.31817235G= | CA1619307623 | HSPA1A,HSPA1L | c.1479G= (p.Lys493=) c.984G= (p.Lys328=) c.-14+3778C= (n.-14+3778C=) | |
6 | g.31817235G>T | CA363419081 | HSPA1A,HSPA1L | c.1479G>T (p.Lys493Asn) c.984G>T (p.Lys328Asn) c.-14+3778C>A (n.-14+3778C>A) | |
6 | g.31817236A>C | CA363419084 | HSPA1A,HSPA1L | c.1480A>C (p.Ser494Arg) c.985A>C (p.Ser329Arg) c.-14+3777T>G (n.-14+3777T>G) | |
6 | g.31817236A>G | CA363419088 | HSPA1A,HSPA1L | c.1480A>G (p.Ser494Gly) c.985A>G (p.Ser329Gly) c.-14+3777T>C (n.-14+3777T>C) | |
6 | g.31817236A>T | CA363419092 | HSPA1A,HSPA1L | c.1480A>T (p.Ser494Cys) c.985A>T (p.Ser329Cys) c.-14+3777T>A (n.-14+3777T>A) | |
6 | g.31817237G>A | CA363419099 | HSPA1A,HSPA1L | c.1481G>A (p.Ser494Asn) c.986G>A (p.Ser329Asn) c.-14+3776C>T (n.-14+3776C>T) | gnomAD v4 |
6 | g.31817237G>C | CA363419100 | HSPA1A,HSPA1L | c.1481G>C (p.Ser494Thr) c.986G>C (p.Ser329Thr) c.-14+3776C>G (n.-14+3776C>G) | |
6 | g.31817237G>T | CA363419101 | HSPA1A,HSPA1L | c.1481G>T (p.Ser494Ile) c.986G>T (p.Ser329Ile) c.-14+3776C>A (n.-14+3776C>A) | |
6 | g.31817238C>A | CA363419102 | HSPA1A,HSPA1L | c.1482C>A (p.Ser494Arg) c.987C>A (p.Ser329Arg) c.-14+3775G>T (n.-14+3775G>T) | gnomAD v4 |
6 | g.31817238C= | CA1619307624 | HSPA1A,HSPA1L | c.1482C= (p.Ser494=) c.987C= (p.Ser329=) c.-14+3775G= (n.-14+3775G=) | |
6 | g.31817238C>G | CA363419108 | HSPA1A,HSPA1L | c.1482C>G (p.Ser494Arg) c.987C>G (p.Ser329Arg) c.-14+3775G>C (n.-14+3775G>C) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31817238C>T | CA449806628 | HSPA1A,HSPA1L | c.1482C>T (p.Ser494=) c.987C>T (p.Ser329=) c.-14+3775G>A (n.-14+3775G>A) | |
6 | g.31817239A>C | CA363419124 | HSPA1A,HSPA1L | c.1483A>C (p.Thr495Pro) c.988A>C (p.Thr330Pro) c.-14+3774T>G (n.-14+3774T>G) | |
6 | g.31817239A>G | CA363419126 | HSPA1A,HSPA1L | c.1483A>G (p.Thr495Ala) c.988A>G (p.Thr330Ala) c.-14+3774T>C (n.-14+3774T>C) | |
6 | g.31817239A>T | CA363419125 | HSPA1A,HSPA1L | c.1483A>T (p.Thr495Ser) c.988A>T (p.Thr330Ser) c.-14+3774T>A (n.-14+3774T>A) | |
6 | g.31817239_31817242delinsACCG | CA1619307625 | HSPA1A,HSPA1L | c.1483_1486delinsACCG (p.Thr495=) c.988_991delinsACCG (p.Thr330=) c.-14+3771_-14+3774delinsCGGT (n.-14+3771_-14+3774delinsCGGT) | |
6 | g.31817240C>A | CA363419146 | HSPA1A,HSPA1L | c.1484C>A (p.Thr495Asn) c.989C>A (p.Thr330Asn) c.-14+3773G>T (n.-14+3773G>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31817240C= | CA1619307626 | HSPA1A,HSPA1L | c.1484C= (p.Thr495=) c.989C= (p.Thr330=) c.-14+3773G= (n.-14+3773G=) | |
6 | g.31817240C>G | CA363419153 | HSPA1A,HSPA1L | c.1484C>G (p.Thr495Ser) c.989C>G (p.Thr330Ser) c.-14+3773G>C (n.-14+3773G>C) | |
6 | g.31817240C>T | CA363419163 | HSPA1A,HSPA1L | c.1484C>T (p.Thr495Ile) c.989C>T (p.Thr330Ile) c.-14+3773G>A (n.-14+3773G>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.31817240_31817242del | CA449806629 | HSPA1A,HSPA1L | c.1484_1486del (p.Thr495_Gly496delinsSer) c.989_991del (p.Thr330_Gly331delinsSer) c.-14+3771_-14+3773del (n.-14+3771_-14+3773del) | dbSNP |
6 | g.31817241C>A | CA449806631 | HSPA1A,HSPA1L | c.1485C>A (p.Thr495=) c.990C>A (p.Thr330=) c.-14+3772G>T (n.-14+3772G>T) | |
6 | g.31817241C= | CA1619307627 | HSPA1A,HSPA1L | c.1485C= (p.Thr495=) c.990C= (p.Thr330=) c.-14+3772G= (n.-14+3772G=) | |
6 | g.31817241C>G | CA449806632 | HSPA1A,HSPA1L | c.1485C>G (p.Thr495=) c.990C>G (p.Thr330=) c.-14+3772G>C (n.-14+3772G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31817241C>T | CA449806633 | HSPA1A,HSPA1L | c.1485C>T (p.Thr495=) c.990C>T (p.Thr330=) c.-14+3772G>A (n.-14+3772G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31817242_31817244del | CA363419177 | HSPA1A,HSPA1L | c.1486_1488del (p.Gly496del) c.991_993del (p.Gly331del) c.-14+3770_-14+3772del (n.-14+3770_-14+3772del) | |
6 | g.31817242G>A | CA363419181 | HSPA1A,HSPA1L | c.1486G>A (p.Gly496Ser) c.991G>A (p.Gly331Ser) c.-14+3771C>T (n.-14+3771C>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.31817242G>C | CA363419183 | HSPA1A,HSPA1L | c.1486G>C (p.Gly496Arg) c.991G>C (p.Gly331Arg) c.-14+3771C>G (n.-14+3771C>G) | |
6 | g.31817242G= | CA1619307628 | HSPA1A,HSPA1L | c.1486G= (p.Gly496=) c.991G= (p.Gly331=) c.-14+3771C= (n.-14+3771C=) | |
6 | g.31817242G>T | CA363419186 | HSPA1A,HSPA1L | c.1486G>T (p.Gly496Cys) c.991G>T (p.Gly331Cys) c.-14+3771C>A (n.-14+3771C>A) | |
6 | g.31817243G>A | CA363419191 | HSPA1A,HSPA1L | c.1487G>A (p.Gly496Asp) c.992G>A (p.Gly331Asp) c.-14+3770C>T (n.-14+3770C>T) | |
6 | g.31817243G>C | CA363419195 | HSPA1A,HSPA1L | c.1487G>C (p.Gly496Ala) c.992G>C (p.Gly331Ala) c.-14+3770C>G (n.-14+3770C>G) | |
6 | g.31817243G>T | CA363419201 | HSPA1A,HSPA1L | c.1487G>T (p.Gly496Val) c.992G>T (p.Gly331Val) c.-14+3770C>A (n.-14+3770C>A) | |
6 | g.31817244C>A | CA449806636 | HSPA1A,HSPA1L | c.1488C>A (p.Gly496=) c.993C>A (p.Gly331=) c.-14+3769G>T (n.-14+3769G>T) | gnomAD v4 |
6 | g.31817244C= | CA1619307629 | HSPA1A,HSPA1L | c.1488C= (p.Gly496=) c.993C= (p.Gly331=) c.-14+3769G= (n.-14+3769G=) | |
6 | g.31817244C>G | CA449806637 | HSPA1A,HSPA1L | c.1488C>G (p.Gly496=) c.993C>G (p.Gly331=) c.-14+3769G>C (n.-14+3769G>C) | dbSNP |
6 | g.31817244C>T | CA449806638 | HSPA1A,HSPA1L | c.1488C>T (p.Gly496=) c.993C>T (p.Gly331=) c.-14+3769G>A (n.-14+3769G>A) | dbSNP |
6 | g.31817245A>C | CA363419211 | HSPA1A,HSPA1L | c.1489A>C (p.Lys497Gln) c.994A>C (p.Lys332Gln) c.-14+3768T>G (n.-14+3768T>G) | gnomAD v4 |
6 | g.31817245A>G | CA363419216 | HSPA1A,HSPA1L | c.1489A>G (p.Lys497Glu) c.994A>G (p.Lys332Glu) c.-14+3768T>C (n.-14+3768T>C) | |
6 | g.31817245A>T | CA363419223 | HSPA1A,HSPA1L | c.1489A>T (p.Lys497Ter) c.994A>T (p.Lys332Ter) c.-14+3768T>A (n.-14+3768T>A) | |
6 | g.31817246A>C | CA363419240 | HSPA1A,HSPA1L | c.1490A>C (p.Lys497Thr) c.995A>C (p.Lys332Thr) c.-14+3767T>G (n.-14+3767T>G) | |
6 | g.31817246A>G | CA363419243 | HSPA1A,HSPA1L | c.1490A>G (p.Lys497Arg) c.995A>G (p.Lys332Arg) c.-14+3767T>C (n.-14+3767T>C) | |
6 | g.31817246A>T | CA363419242 | HSPA1A,HSPA1L | c.1490A>T (p.Lys497Met) c.995A>T (p.Lys332Met) c.-14+3767T>A (n.-14+3767T>A) | |
6 | g.31817247G>A | CA449806639 | HSPA1A,HSPA1L | c.1491G>A (p.Lys497=) c.996G>A (p.Lys332=) c.-14+3766C>T (n.-14+3766C>T) | gnomAD v4 |
6 | g.31817247G>C | CA363419248 | HSPA1A,HSPA1L | c.1491G>C (p.Lys497Asn) c.996G>C (p.Lys332Asn) c.-14+3766C>G (n.-14+3766C>G) | |
6 | g.31817247G>T | CA363419256 | HSPA1A,HSPA1L | c.1491G>T (p.Lys497Asn) c.996G>T (p.Lys332Asn) c.-14+3766C>A (n.-14+3766C>A) | |
6 | g.31817248G>A | CA363419257 | HSPA1A,HSPA1L | c.1492G>A (p.Ala498Thr) c.997G>A (p.Ala333Thr) c.-14+3765C>T (n.-14+3765C>T) | gnomAD v4 |
6 | g.31817248G>C | CA363419260 | HSPA1A,HSPA1L | c.1492G>C (p.Ala498Pro) c.997G>C (p.Ala333Pro) c.-14+3765C>G (n.-14+3765C>G) | |
6 | g.31817248G>T | CA363419263 | HSPA1A,HSPA1L | c.1492G>T (p.Ala498Ser) c.997G>T (p.Ala333Ser) c.-14+3765C>A (n.-14+3765C>A) | gnomAD v4 |
6 | g.31817249C>A | CA363419270 | HSPA1A,HSPA1L | c.1493C>A (p.Ala498Asp) c.998C>A (p.Ala333Asp) c.-14+3764G>T (n.-14+3764G>T) | gnomAD v4 |
6 | g.31817249C= | CA1619307630 | HSPA1A,HSPA1L | c.1493C= (p.Ala498=) c.998C= (p.Ala333=) c.-14+3764G= (n.-14+3764G=) | |
6 | g.31817249C>G | CA363419271 | HSPA1A,HSPA1L | c.1493C>G (p.Ala498Gly) c.998C>G (p.Ala333Gly) c.-14+3764G>C (n.-14+3764G>C) | |
6 | g.31817249C>T | CA363419272 | HSPA1A,HSPA1L | c.1493C>T (p.Ala498Val) c.998C>T (p.Ala333Val) c.-14+3764G>A (n.-14+3764G>A) | dbSNP gnomAD v2 |
6 | g.31817250C>A | CA449806644 | HSPA1A,HSPA1L | c.1494C>A (p.Ala498=) c.999C>A (p.Ala333=) c.-14+3763G>T (n.-14+3763G>T) | gnomAD v4 |
6 | g.31817250C= | CA1619307631 | HSPA1A,HSPA1L | c.1494C= (p.Ala498=) c.999C= (p.Ala333=) c.-14+3763G= (n.-14+3763G=) | |
6 | g.31817250C>G | CA449806646 | HSPA1A,HSPA1L | c.1494C>G (p.Ala498=) c.999C>G (p.Ala333=) c.-14+3763G>C (n.-14+3763G>C) | dbSNP gnomAD v2 |
6 | g.31817250C>T | CA449806645 | HSPA1A,HSPA1L | c.1494C>T (p.Ala498=) c.999C>T (p.Ala333=) c.-14+3763G>A (n.-14+3763G>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.31817251A= | CA1619307632 | HSPA1A,HSPA1L | c.1495A= (p.Asn499=) c.1000A= (p.Asn334=) c.-14+3762T= (n.-14+3762T=) | |
6 | g.31817251A>C | CA363419279 | HSPA1A,HSPA1L | c.1495A>C (p.Asn499His) c.1000A>C (p.Asn334His) c.-14+3762T>G (n.-14+3762T>G) | |
6 | g.31817251A>G | CA363419293 | HSPA1A,HSPA1L | c.1495A>G (p.Asn499Asp) c.1000A>G (p.Asn334Asp) c.-14+3762T>C (n.-14+3762T>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.31817251A>T | CA363419299 | HSPA1A,HSPA1L | c.1495A>T (p.Asn499Tyr) c.1000A>T (p.Asn334Tyr) c.-14+3762T>A (n.-14+3762T>A) | |
6 | g.31817252A= | CA1619307633 | HSPA1A,HSPA1L | c.1496A= (p.Asn499=) c.1001A= (p.Asn334=) c.-14+3761T= (n.-14+3761T=) | |
6 | g.31817252A>C | CA363419305 | HSPA1A,HSPA1L | c.1496A>C (p.Asn499Thr) c.1001A>C (p.Asn334Thr) c.-14+3761T>G (n.-14+3761T>G) | |
6 | g.31817252A>G | CA3724258 | HSPA1A,HSPA1L | c.1496A>G (p.Asn499Ser) c.1001A>G (p.Asn334Ser) c.-14+3761T>C (n.-14+3761T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31817252A>T | CA363419303 | HSPA1A,HSPA1L | c.1496A>T (p.Asn499Ile) c.1001A>T (p.Asn334Ile) c.-14+3761T>A (n.-14+3761T>A) | |
6 | g.31817253C>A | CA363419313 | HSPA1A,HSPA1L | c.1497C>A (p.Asn499Lys) c.1002C>A (p.Asn334Lys) c.-14+3760G>T (n.-14+3760G>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31817253C= | CA1619307634 | HSPA1A,HSPA1L | c.1497C= (p.Asn499=) c.1002C= (p.Asn334=) c.-14+3760G= (n.-14+3760G=) | |
6 | g.31817253C>G | CA3724259 | HSPA1A,HSPA1L | c.1497C>G (p.Asn499Lys) c.1002C>G (p.Asn334Lys) c.-14+3760G>C (n.-14+3760G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31817253C>T | CA449806650 | HSPA1A,HSPA1L | c.1497C>T (p.Asn499=) c.1002C>T (p.Asn334=) c.-14+3760G>A (n.-14+3760G>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.31817254A>C | CA363419319 | HSPA1A,HSPA1L | c.1498A>C (p.Lys500Gln) c.1003A>C (p.Lys335Gln) c.-14+3759T>G (n.-14+3759T>G) | |
6 | g.31817254A>G | CA363419323 | HSPA1A,HSPA1L | c.1498A>G (p.Lys500Glu) c.1003A>G (p.Lys335Glu) c.-14+3759T>C (n.-14+3759T>C) | |
6 | g.31817254A>T | CA363419324 | HSPA1A,HSPA1L | c.1498A>T (p.Lys500Ter) c.1003A>T (p.Lys335Ter) c.-14+3759T>A (n.-14+3759T>A) | |
6 | g.31817255A>C | CA363419325 | HSPA1A,HSPA1L | c.1499A>C (p.Lys500Thr) c.1004A>C (p.Lys335Thr) c.-14+3758T>G (n.-14+3758T>G) | |
6 | g.31817255A>G | CA363419326 | HSPA1A,HSPA1L | c.1499A>G (p.Lys500Arg) c.1004A>G (p.Lys335Arg) c.-14+3758T>C (n.-14+3758T>C) | |
6 | g.31817255A>T | CA363419330 | HSPA1A,HSPA1L | c.1499A>T (p.Lys500Met) c.1004A>T (p.Lys335Met) c.-14+3758T>A (n.-14+3758T>A) | |
6 | g.31817256G>A | CA449806653 | HSPA1A,HSPA1L | c.1500G>A (p.Lys500=) c.1005G>A (p.Lys335=) c.-14+3757C>T (n.-14+3757C>T) | |
6 | g.31817256G>C | CA363419341 | HSPA1A,HSPA1L | c.1500G>C (p.Lys500Asn) c.1005G>C (p.Lys335Asn) c.-14+3757C>G (n.-14+3757C>G) | |
6 | g.31817256G>T | CA363419352 | HSPA1A,HSPA1L | c.1500G>T (p.Lys500Asn) c.1005G>T (p.Lys335Asn) c.-14+3757C>A (n.-14+3757C>A) | gnomAD v4 |
6 | g.31817257A>C | CA363419357 | HSPA1A,HSPA1L | c.1501A>C (p.Ile501Leu) c.1006A>C (p.Ile336Leu) c.-14+3756T>G (n.-14+3756T>G) | |
6 | g.31817257A>G | CA363419362 | HSPA1A,HSPA1L | c.1501A>G (p.Ile501Val) c.1006A>G (p.Ile336Val) c.-14+3756T>C (n.-14+3756T>C) | |
6 | g.31817257A>T | CA363419367 | HSPA1A,HSPA1L | c.1501A>T (p.Ile501Phe) c.1006A>T (p.Ile336Phe) c.-14+3756T>A (n.-14+3756T>A) | |
6 | g.31817258T>A | CA363419368 | HSPA1A,HSPA1L | c.1502T>A (p.Ile501Asn) c.1007T>A (p.Ile336Asn) c.-14+3755A>T (n.-14+3755A>T) | |
6 | g.31817258T>C | CA363419369 | HSPA1A,HSPA1L | c.1502T>C (p.Ile501Thr) c.1007T>C (p.Ile336Thr) c.-14+3755A>G (n.-14+3755A>G) | |
6 | g.31817258T>G | CA363419370 | HSPA1A,HSPA1L | c.1502T>G (p.Ile501Ser) c.1007T>G (p.Ile336Ser) c.-14+3755A>C (n.-14+3755A>C) | |
6 | g.31817258_31817261delinsTCAC | CA1619307635 | HSPA1A,HSPA1L | c.1502_1505delinsTCAC (p.Ile501=) c.1007_1010delinsTCAC (p.Ile336=) c.-14+3752_-14+3755delinsGTGA (n.-14+3752_-14+3755delinsGTGA) |