Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.31817105C>A | CA363417564 | HSPA1A,HSPA1L | c.1349C>A (p.Thr450Lys) c.854C>A (p.Thr285Lys) c.-14+3908G>T (n.-14+3908G>T) | |
6 | g.31817105C= | CA1619307579 | HSPA1A,HSPA1L | c.1349C= (p.Thr450=) c.854C= (p.Thr285=) c.-14+3908G= (n.-14+3908G=) | |
6 | g.31817105C>G | CA363417566 | HSPA1A,HSPA1L | c.1349C>G (p.Thr450Arg) c.854C>G (p.Thr285Arg) c.-14+3908G>C (n.-14+3908G>C) | dbSNP |
6 | g.31817105C>T | CA363417561 | HSPA1A,HSPA1L | c.1349C>T (p.Thr450Met) c.854C>T (p.Thr285Met) c.-14+3908G>A (n.-14+3908G>A) | gnomAD v4 |
6 | g.31817106G>A | CA449806405 | HSPA1A,HSPA1L | c.1350G>A (p.Thr450=) c.855G>A (p.Thr285=) c.-14+3907C>T (n.-14+3907C>T) | gnomAD v4 |
6 | g.31817106G>C | CA449806407 | HSPA1A,HSPA1L | c.1350G>C (p.Thr450=) c.855G>C (p.Thr285=) c.-14+3907C>G (n.-14+3907C>G) | gnomAD v4 |
6 | g.31817106G>T | CA449806406 | HSPA1A,HSPA1L | c.1350G>T (p.Thr450=) c.855G>T (p.Thr285=) c.-14+3907C>A (n.-14+3907C>A) | gnomAD v4 |
6 | g.31817107A>C | CA363417568 | HSPA1A,HSPA1L | c.1351A>C (p.Lys451Gln) c.856A>C (p.Lys286Gln) c.-14+3906T>G (n.-14+3906T>G) | |
6 | g.31817107A>G | CA363417571 | HSPA1A,HSPA1L | c.1351A>G (p.Lys451Glu) c.856A>G (p.Lys286Glu) c.-14+3906T>C (n.-14+3906T>C) | |
6 | g.31817107A>T | CA363417575 | HSPA1A,HSPA1L | c.1351A>T (p.Lys451Ter) c.856A>T (p.Lys286Ter) c.-14+3906T>A (n.-14+3906T>A) | |
6 | g.31817108A>C | CA363417579 | HSPA1A,HSPA1L | c.1352A>C (p.Lys451Thr) c.857A>C (p.Lys286Thr) c.-14+3905T>G (n.-14+3905T>G) | |
6 | g.31817108A>G | CA363417581 | HSPA1A,HSPA1L | c.1352A>G (p.Lys451Arg) c.857A>G (p.Lys286Arg) c.-14+3905T>C (n.-14+3905T>C) | |
6 | g.31817108A>T | CA363417584 | HSPA1A,HSPA1L | c.1352A>T (p.Lys451Ile) c.857A>T (p.Lys286Ile) c.-14+3905T>A (n.-14+3905T>A) | |
6 | g.31817109A>C | CA363417588 | HSPA1A,HSPA1L | c.1353A>C (p.Lys451Asn) c.858A>C (p.Lys286Asn) c.-14+3904T>G (n.-14+3904T>G) | |
6 | g.31817109A>G | CA449806408 | HSPA1A,HSPA1L | c.1353A>G (p.Lys451=) c.858A>G (p.Lys286=) c.-14+3904T>C (n.-14+3904T>C) | |
6 | g.31817109A>T | CA363417591 | HSPA1A,HSPA1L | c.1353A>T (p.Lys451Asn) c.858A>T (p.Lys286Asn) c.-14+3904T>A (n.-14+3904T>A) | |
6 | g.31817110G>A | CA363417598 | HSPA1A,HSPA1L | c.1354G>A (p.Asp452Asn) c.859G>A (p.Asp287Asn) c.-14+3903C>T (n.-14+3903C>T) | |
6 | g.31817110G>C | CA363417601 | HSPA1A,HSPA1L | c.1354G>C (p.Asp452His) c.859G>C (p.Asp287His) c.-14+3903C>G (n.-14+3903C>G) | |
6 | g.31817110G>T | CA363417608 | HSPA1A,HSPA1L | c.1354G>T (p.Asp452Tyr) c.859G>T (p.Asp287Tyr) c.-14+3903C>A (n.-14+3903C>A) | |
6 | g.31817110_31817113delinsGACA | CA1619307580 | HSPA1A,HSPA1L | c.1354_1357delinsGACA (p.Asp452=) c.859_862delinsGACA (p.Asp287=) c.-14+3900_-14+3903delinsTGTC (n.-14+3900_-14+3903delinsTGTC) | |
6 | g.31817111A>C | CA363417613 | HSPA1A,HSPA1L | c.1355A>C (p.Asp452Ala) c.860A>C (p.Asp287Ala) c.-14+3902T>G (n.-14+3902T>G) | |
6 | g.31817111A>G | CA363417615 | HSPA1A,HSPA1L | c.1355A>G (p.Asp452Gly) c.860A>G (p.Asp287Gly) c.-14+3902T>C (n.-14+3902T>C) | |
6 | g.31817111A>T | CA363417620 | HSPA1A,HSPA1L | c.1355A>T (p.Asp452Val) c.860A>T (p.Asp287Val) c.-14+3902T>A (n.-14+3902T>A) | |
6 | g.31817115_31817117del | CA566692201 | HSPA1A,HSPA1L | c.1359_1361del (p.Asn454del) c.864_866del (p.Asn289del) c.-14+3900_-14+3902del (n.-14+3900_-14+3902del) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31817112C>A | CA363417625 | HSPA1A,HSPA1L | c.1356C>A (p.Asp452Glu) c.861C>A (p.Asp287Glu) c.-14+3901G>T (n.-14+3901G>T) | |
6 | g.31817112C>G | CA363417629 | HSPA1A,HSPA1L | c.1356C>G (p.Asp452Glu) c.861C>G (p.Asp287Glu) c.-14+3901G>C (n.-14+3901G>C) | |
6 | g.31817112C>T | CA449806409 | HSPA1A,HSPA1L | c.1356C>T (p.Asp452=) c.861C>T (p.Asp287=) c.-14+3901G>A (n.-14+3901G>A) | |
6 | g.31817113A= | CA1619307581 | HSPA1A,HSPA1L | c.1357A= (p.Asn453=) c.862A= (p.Asn288=) c.-14+3900T= (n.-14+3900T=) | |
6 | g.31817113A>C | CA363417637 | HSPA1A,HSPA1L | c.1357A>C (p.Asn453His) c.862A>C (p.Asn288His) c.-14+3900T>G (n.-14+3900T>G) | |
6 | g.31817113A>G | CA363417644 | HSPA1A,HSPA1L | c.1357A>G (p.Asn453Asp) c.862A>G (p.Asn288Asp) c.-14+3900T>C (n.-14+3900T>C) | dbSNP |
6 | g.31817113A>T | CA363417639 | HSPA1A,HSPA1L | c.1357A>T (p.Asn453Tyr) c.862A>T (p.Asn288Tyr) c.-14+3900T>A (n.-14+3900T>A) | |
6 | g.31817114A>C | CA363417653 | HSPA1A,HSPA1L | c.1358A>C (p.Asn453Thr) c.863A>C (p.Asn288Thr) c.-14+3899T>G (n.-14+3899T>G) | gnomAD v4 |
6 | g.31817114A>G | CA363417657 | HSPA1A,HSPA1L | c.1358A>G (p.Asn453Ser) c.863A>G (p.Asn288Ser) c.-14+3899T>C (n.-14+3899T>C) | |
6 | g.31817114A>T | CA363417659 | HSPA1A,HSPA1L | c.1358A>T (p.Asn453Ile) c.863A>T (p.Asn288Ile) c.-14+3899T>A (n.-14+3899T>A) | |
6 | g.31817115C>A | CA363417678 | HSPA1A,HSPA1L | c.1359C>A (p.Asn453Lys) c.864C>A (p.Asn288Lys) c.-14+3898G>T (n.-14+3898G>T) | |
6 | g.31817115C= | CA1619307582 | HSPA1A,HSPA1L | c.1359C= (p.Asn453=) c.864C= (p.Asn288=) c.-14+3898G= (n.-14+3898G=) | |
6 | g.31817115C>G | CA363417683 | HSPA1A,HSPA1L | c.1359C>G (p.Asn453Lys) c.864C>G (p.Asn288Lys) c.-14+3898G>C (n.-14+3898G>C) | |
6 | g.31817115C>T | CA449806410 | HSPA1A,HSPA1L | c.1359C>T (p.Asn453=) c.864C>T (p.Asn288=) c.-14+3898G>A (n.-14+3898G>A) | dbSNP gnomAD v4 |
6 | g.31817116A>C | CA363417689 | HSPA1A,HSPA1L | c.1360A>C (p.Asn454His) c.865A>C (p.Asn289His) c.-14+3897T>G (n.-14+3897T>G) | |
6 | g.31817116A>G | CA363417694 | HSPA1A,HSPA1L | c.1360A>G (p.Asn454Asp) c.865A>G (p.Asn289Asp) c.-14+3897T>C (n.-14+3897T>C) | |
6 | g.31817116A>T | CA363417710 | HSPA1A,HSPA1L | c.1360A>T (p.Asn454Tyr) c.865A>T (p.Asn289Tyr) c.-14+3897T>A (n.-14+3897T>A) | |
6 | g.31817117A>C | CA363417713 | HSPA1A,HSPA1L | c.1361A>C (p.Asn454Thr) c.866A>C (p.Asn289Thr) c.-14+3896T>G (n.-14+3896T>G) | |
6 | g.31817117A>G | CA363417714 | HSPA1A,HSPA1L | c.1361A>G (p.Asn454Ser) c.866A>G (p.Asn289Ser) c.-14+3896T>C (n.-14+3896T>C) | gnomAD v4 |
6 | g.31817117A>T | CA363417717 | HSPA1A,HSPA1L | c.1361A>T (p.Asn454Ile) c.866A>T (p.Asn289Ile) c.-14+3896T>A (n.-14+3896T>A) | |
6 | g.31817118T>A | CA363417722 | HSPA1A,HSPA1L | c.1362T>A (p.Asn454Lys) c.867T>A (p.Asn289Lys) c.-14+3895A>T (n.-14+3895A>T) | |
6 | g.31817118T>C | CA449806411 | HSPA1A,HSPA1L | c.1362T>C (p.Asn454=) c.867T>C (p.Asn289=) c.-14+3895A>G (n.-14+3895A>G) | gnomAD v3 gnomAD v4 |
6 | g.31817118T>G | CA363417723 | HSPA1A,HSPA1L | c.1362T>G (p.Asn454Lys) c.867T>G (p.Asn289Lys) c.-14+3895A>C (n.-14+3895A>C) | |
6 | g.31817119C>A | CA363417724 | HSPA1A,HSPA1L | c.1363C>A (p.Leu455Met) c.868C>A (p.Leu290Met) c.-14+3894G>T (n.-14+3894G>T) | dbSNP |
6 | g.31817119C= | CA1619307583 | HSPA1A,HSPA1L | c.1363C= (p.Leu455=) c.868C= (p.Leu290=) c.-14+3894G= (n.-14+3894G=) | |
6 | g.31817119C>G | CA363417725 | HSPA1A,HSPA1L | c.1363C>G (p.Leu455Val) c.868C>G (p.Leu290Val) c.-14+3894G>C (n.-14+3894G>C) | |
6 | g.31817119C>T | CA449806412 | HSPA1A,HSPA1L | c.1363C>T (p.Leu455=) c.868C>T (p.Leu290=) c.-14+3894G>A (n.-14+3894G>A) | |
6 | g.31817120T>A | CA363417730 | HSPA1A,HSPA1L | c.1364T>A (p.Leu455Gln) c.869T>A (p.Leu290Gln) c.-14+3893A>T (n.-14+3893A>T) | |
6 | g.31817120T>C | CA363417738 | HSPA1A,HSPA1L | c.1364T>C (p.Leu455Pro) c.869T>C (p.Leu290Pro) c.-14+3893A>G (n.-14+3893A>G) | |
6 | g.31817120T>G | CA363417741 | HSPA1A,HSPA1L | c.1364T>G (p.Leu455Arg) c.869T>G (p.Leu290Arg) c.-14+3893A>C (n.-14+3893A>C) | |
6 | g.31817121G>A | CA449806413 | HSPA1A,HSPA1L | c.1365G>A (p.Leu455=) c.870G>A (p.Leu290=) c.-14+3892C>T (n.-14+3892C>T) | gnomAD v4 |
6 | g.31817121G>C | CA449806414 | HSPA1A,HSPA1L | c.1365G>C (p.Leu455=) c.870G>C (p.Leu290=) c.-14+3892C>G (n.-14+3892C>G) | |
6 | g.31817121G>T | CA449806415 | HSPA1A,HSPA1L | c.1365G>T (p.Leu455=) c.870G>T (p.Leu290=) c.-14+3892C>A (n.-14+3892C>A) | gnomAD v4 |
6 | g.31817122T>A | CA363417744 | HSPA1A,HSPA1L | c.1366T>A (p.Leu456Met) c.871T>A (p.Leu291Met) c.-14+3891A>T (n.-14+3891A>T) | |
6 | g.31817122T>C | CA449806416 | HSPA1A,HSPA1L | c.1366T>C (p.Leu456=) c.871T>C (p.Leu291=) c.-14+3891A>G (n.-14+3891A>G) | |
6 | g.31817122T>G | CA363417745 | HSPA1A,HSPA1L | c.1366T>G (p.Leu456Val) c.871T>G (p.Leu291Val) c.-14+3891A>C (n.-14+3891A>C) | |
6 | g.31817123T>A | CA363417747 | HSPA1A,HSPA1L | c.1367T>A (p.Leu456Ter) c.872T>A (p.Leu291Ter) c.-14+3890A>T (n.-14+3890A>T) | |
6 | g.31817123T>C | CA363417750 | HSPA1A,HSPA1L | c.1367T>C (p.Leu456Ser) c.872T>C (p.Leu291Ser) c.-14+3890A>G (n.-14+3890A>G) | gnomAD v4 |
6 | g.31817123T>G | CA363417753 | HSPA1A,HSPA1L | c.1367T>G (p.Leu456Trp) c.872T>G (p.Leu291Trp) c.-14+3890A>C (n.-14+3890A>C) | |
6 | g.31817124G>A | CA449806417 | HSPA1A,HSPA1L | c.1368G>A (p.Leu456=) c.873G>A (p.Leu291=) c.-14+3889C>T (n.-14+3889C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31817124G>C | CA363417758 | HSPA1A,HSPA1L | c.1368G>C (p.Leu456Phe) c.873G>C (p.Leu291Phe) c.-14+3889C>G (n.-14+3889C>G) | |
6 | g.31817124G= | CA1619307584 | HSPA1A,HSPA1L | c.1368G= (p.Leu456=) c.873G= (p.Leu291=) c.-14+3889C= (n.-14+3889C=) | |
6 | g.31817124G>T | CA363417760 | HSPA1A,HSPA1L | c.1368G>T (p.Leu456Phe) c.873G>T (p.Leu291Phe) c.-14+3889C>A (n.-14+3889C>A) | |
6 | g.31817125G>A | CA363417767 | HSPA1A,HSPA1L | c.1369G>A (p.Gly457Arg) c.874G>A (p.Gly292Arg) c.-14+3888C>T (n.-14+3888C>T) | gnomAD v4 |
6 | g.31817125G>C | CA363417770 | HSPA1A,HSPA1L | c.1369G>C (p.Gly457Arg) c.874G>C (p.Gly292Arg) c.-14+3888C>G (n.-14+3888C>G) | |
6 | g.31817125G>T | CA363417773 | HSPA1A,HSPA1L | c.1369G>T (p.Gly457Trp) c.874G>T (p.Gly292Trp) c.-14+3888C>A (n.-14+3888C>A) | |
6 | g.31817126G>A | CA363417777 | HSPA1A,HSPA1L | c.1370G>A (p.Gly457Glu) c.875G>A (p.Gly292Glu) c.-14+3887C>T (n.-14+3887C>T) | |
6 | g.31817126G>C | CA363417780 | HSPA1A,HSPA1L | c.1370G>C (p.Gly457Ala) c.875G>C (p.Gly292Ala) c.-14+3887C>G (n.-14+3887C>G) | gnomAD v4 |
6 | g.31817126G>T | CA363417779 | HSPA1A,HSPA1L | c.1370G>T (p.Gly457Val) c.875G>T (p.Gly292Val) c.-14+3887C>A (n.-14+3887C>A) | |
6 | g.31817127G>A | CA449806418 | HSPA1A,HSPA1L | c.1371G>A (p.Gly457=) c.876G>A (p.Gly292=) c.-14+3886C>T (n.-14+3886C>T) | |
6 | g.31817127G>C | CA449806419 | HSPA1A,HSPA1L | c.1371G>C (p.Gly457=) c.876G>C (p.Gly292=) c.-14+3886C>G (n.-14+3886C>G) | |
6 | g.31817127G>T | CA449806420 | HSPA1A,HSPA1L | c.1371G>T (p.Gly457=) c.876G>T (p.Gly292=) c.-14+3886C>A (n.-14+3886C>A) | |
6 | g.31817128C>A | CA363417785 | HSPA1A,HSPA1L | c.1372C>A (p.Arg458Ser) c.877C>A (p.Arg293Ser) c.-14+3885G>T (n.-14+3885G>T) | |
6 | g.31817128C>G | CA363417787 | HSPA1A,HSPA1L | c.1372C>G (p.Arg458Gly) c.877C>G (p.Arg293Gly) c.-14+3885G>C (n.-14+3885G>C) | |
6 | g.31817128C>T | CA363417791 | HSPA1A,HSPA1L | c.1372C>T (p.Arg458Cys) c.877C>T (p.Arg293Cys) c.-14+3885G>A (n.-14+3885G>A) | gnomAD v4 |
6 | g.31817129G>A | CA363417796 | HSPA1A,HSPA1L | c.1373G>A (p.Arg458His) c.878G>A (p.Arg293His) c.-14+3884C>T (n.-14+3884C>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31817129G>C | CA363417799 | HSPA1A,HSPA1L | c.1373G>C (p.Arg458Pro) c.878G>C (p.Arg293Pro) c.-14+3884C>G (n.-14+3884C>G) | |
6 | g.31817129G= | CA1619307585 | HSPA1A,HSPA1L | c.1373G= (p.Arg458=) c.878G= (p.Arg293=) c.-14+3884C= (n.-14+3884C=) | |
6 | g.31817129G>T | CA363417805 | HSPA1A,HSPA1L | c.1373G>T (p.Arg458Leu) c.878G>T (p.Arg293Leu) c.-14+3884C>A (n.-14+3884C>A) | |
6 | g.31817130C>A | CA449806421 | HSPA1A,HSPA1L | c.1374C>A (p.Arg458=) c.879C>A (p.Arg293=) c.-14+3883G>T (n.-14+3883G>T) | |
6 | g.31817130C>G | CA449806422 | HSPA1A,HSPA1L | c.1374C>G (p.Arg458=) c.879C>G (p.Arg293=) c.-14+3883G>C (n.-14+3883G>C) | |
6 | g.31817130C>T | CA449806423 | HSPA1A,HSPA1L | c.1374C>T (p.Arg458=) c.879C>T (p.Arg293=) c.-14+3883G>A (n.-14+3883G>A) | |
6 | g.31817131T>A | CA363417823 | HSPA1A,HSPA1L | c.1375T>A (p.Phe459Ile) c.880T>A (p.Phe294Ile) c.-14+3882A>T (n.-14+3882A>T) | |
6 | g.31817131T>C | CA363417809 | HSPA1A,HSPA1L | c.1375T>C (p.Phe459Leu) c.880T>C (p.Phe294Leu) c.-14+3882A>G (n.-14+3882A>G) | |
6 | g.31817131T>G | CA363417813 | HSPA1A,HSPA1L | c.1375T>G (p.Phe459Val) c.880T>G (p.Phe294Val) c.-14+3882A>C (n.-14+3882A>C) | |
6 | g.31817132T>A | CA363417830 | HSPA1A,HSPA1L | c.1376T>A (p.Phe459Tyr) c.881T>A (p.Phe294Tyr) c.-14+3881A>T (n.-14+3881A>T) | |
6 | g.31817132T>C | CA363417833 | HSPA1A,HSPA1L | c.1376T>C (p.Phe459Ser) c.881T>C (p.Phe294Ser) c.-14+3881A>G (n.-14+3881A>G) | |
6 | g.31817132T>G | CA363417837 | HSPA1A,HSPA1L | c.1376T>G (p.Phe459Cys) c.881T>G (p.Phe294Cys) c.-14+3881A>C (n.-14+3881A>C) | |
6 | g.31817133C>A | CA363417841 | HSPA1A,HSPA1L | c.1377C>A (p.Phe459Leu) c.882C>A (p.Phe294Leu) c.-14+3880G>T (n.-14+3880G>T) | |
6 | g.31817133C= | CA1619307586 | HSPA1A,HSPA1L | c.1377C= (p.Phe459=) c.882C= (p.Phe294=) c.-14+3880G= (n.-14+3880G=) | |
6 | g.31817133C>G | CA363417843 | HSPA1A,HSPA1L | c.1377C>G (p.Phe459Leu) c.882C>G (p.Phe294Leu) c.-14+3880G>C (n.-14+3880G>C) | gnomAD v4 |
6 | g.31817133C>T | CA449806424 | HSPA1A,HSPA1L | c.1377C>T (p.Phe459=) c.882C>T (p.Phe294=) c.-14+3880G>A (n.-14+3880G>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.31817134G>A | CA363417847 | HSPA1A,HSPA1L | c.1378G>A (p.Glu460Lys) c.883G>A (p.Glu295Lys) c.-14+3879C>T (n.-14+3879C>T) | |
6 | g.31817134G>C | CA363417849 | HSPA1A,HSPA1L | c.1378G>C (p.Glu460Gln) c.883G>C (p.Glu295Gln) c.-14+3879C>G (n.-14+3879C>G) | gnomAD v4 |
6 | g.31817134G>T | CA363417848 | HSPA1A,HSPA1L | c.1378G>T (p.Glu460Ter) c.883G>T (p.Glu295Ter) c.-14+3879C>A (n.-14+3879C>A) | |
6 | g.31817135A>C | CA363417852 | HSPA1A,HSPA1L | c.1379A>C (p.Glu460Ala) c.884A>C (p.Glu295Ala) c.-14+3878T>G (n.-14+3878T>G) | |
6 | g.31817135A>G | CA363417854 | HSPA1A,HSPA1L | c.1379A>G (p.Glu460Gly) c.884A>G (p.Glu295Gly) c.-14+3878T>C (n.-14+3878T>C) | |
6 | g.31817135A>T | CA363417856 | HSPA1A,HSPA1L | c.1379A>T (p.Glu460Val) c.884A>T (p.Glu295Val) c.-14+3878T>A (n.-14+3878T>A) | |
6 | g.31817136G>A | CA449806425 | HSPA1A,HSPA1L | c.1380G>A (p.Glu460=) c.885G>A (p.Glu295=) c.-14+3877C>T (n.-14+3877C>T) | |
6 | g.31817136G>C | CA363417865 | HSPA1A,HSPA1L | c.1380G>C (p.Glu460Asp) c.885G>C (p.Glu295Asp) c.-14+3877C>G (n.-14+3877C>G) | |
6 | g.31817136G>T | CA363417868 | HSPA1A,HSPA1L | c.1380G>T (p.Glu460Asp) c.885G>T (p.Glu295Asp) c.-14+3877C>A (n.-14+3877C>A) | |
6 | g.31817137C>A | CA363417875 | HSPA1A,HSPA1L | c.1381C>A (p.Leu461Met) c.886C>A (p.Leu296Met) c.-14+3876G>T (n.-14+3876G>T) | |
6 | g.31817137C>G | CA363417876 | HSPA1A,HSPA1L | c.1381C>G (p.Leu461Val) c.886C>G (p.Leu296Val) c.-14+3876G>C (n.-14+3876G>C) | |
6 | g.31817137C>T | CA449806426 | HSPA1A,HSPA1L | c.1381C>T (p.Leu461=) c.886C>T (p.Leu296=) c.-14+3876G>A (n.-14+3876G>A) | |
6 | g.31817138T>A | CA363417880 | HSPA1A,HSPA1L | c.1382T>A (p.Leu461Gln) c.887T>A (p.Leu296Gln) c.-14+3875A>T (n.-14+3875A>T) | |
6 | g.31817138T>C | CA363417884 | HSPA1A,HSPA1L | c.1382T>C (p.Leu461Pro) c.887T>C (p.Leu296Pro) c.-14+3875A>G (n.-14+3875A>G) | |
6 | g.31817138T>G | CA363417888 | HSPA1A,HSPA1L | c.1382T>G (p.Leu461Arg) c.887T>G (p.Leu296Arg) c.-14+3875A>C (n.-14+3875A>C) | |
6 | g.31817139G>A | CA449806427 | HSPA1A,HSPA1L | c.1383G>A (p.Leu461=) c.888G>A (p.Leu296=) c.-14+3874C>T (n.-14+3874C>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31817139G>C | CA449806428 | HSPA1A,HSPA1L | c.1383G>C (p.Leu461=) c.888G>C (p.Leu296=) c.-14+3874C>G (n.-14+3874C>G) | |
6 | g.31817139G= | CA1619307587 | HSPA1A,HSPA1L | c.1383G= (p.Leu461=) c.888G= (p.Leu296=) c.-14+3874C= (n.-14+3874C=) | |
6 | g.31817139G>T | CA449806429 | HSPA1A,HSPA1L | c.1383G>T (p.Leu461=) c.888G>T (p.Leu296=) c.-14+3874C>A (n.-14+3874C>A) | |
6 | g.31817140A>C | CA363417891 | HSPA1A,HSPA1L | c.1384A>C (p.Ser462Arg) c.889A>C (p.Ser297Arg) c.-14+3873T>G (n.-14+3873T>G) | |
6 | g.31817140A>G | CA363417893 | HSPA1A,HSPA1L | c.1384A>G (p.Ser462Gly) c.889A>G (p.Ser297Gly) c.-14+3873T>C (n.-14+3873T>C) | |
6 | g.31817140A>T | CA363417892 | HSPA1A,HSPA1L | c.1384A>T (p.Ser462Cys) c.889A>T (p.Ser297Cys) c.-14+3873T>A (n.-14+3873T>A) | |
6 | g.31817141G>A | CA363417896 | HSPA1A,HSPA1L | c.1385G>A (p.Ser462Asn) c.890G>A (p.Ser297Asn) c.-14+3872C>T (n.-14+3872C>T) | gnomAD v4 |
6 | g.31817141G>C | CA363417902 | HSPA1A,HSPA1L | c.1385G>C (p.Ser462Thr) c.890G>C (p.Ser297Thr) c.-14+3872C>G (n.-14+3872C>G) | |
6 | g.31817141G>T | CA363417899 | HSPA1A,HSPA1L | c.1385G>T (p.Ser462Ile) c.890G>T (p.Ser297Ile) c.-14+3872C>A (n.-14+3872C>A) | |
6 | g.31817142C>A | CA363417908 | HSPA1A,HSPA1L | c.1386C>A (p.Ser462Arg) c.891C>A (p.Ser297Arg) c.-14+3871G>T (n.-14+3871G>T) | |
6 | g.31817142C>G | CA363417922 | HSPA1A,HSPA1L | c.1386C>G (p.Ser462Arg) c.891C>G (p.Ser297Arg) c.-14+3871G>C (n.-14+3871G>C) | |
6 | g.31817142C>T | CA449806430 | HSPA1A,HSPA1L | c.1386C>T (p.Ser462=) c.891C>T (p.Ser297=) c.-14+3871G>A (n.-14+3871G>A) | gnomAD v4 |
6 | g.31817143G>A | CA363417926 | HSPA1A,HSPA1L | c.1387G>A (p.Gly463Ser) c.892G>A (p.Gly298Ser) c.-14+3870C>T (n.-14+3870C>T) | |
6 | g.31817143G>C | CA363417930 | HSPA1A,HSPA1L | c.1387G>C (p.Gly463Arg) c.892G>C (p.Gly298Arg) c.-14+3870C>G (n.-14+3870C>G) | dbSNP |
6 | g.31817143G= | CA1619307588 | HSPA1A,HSPA1L | c.1387G= (p.Gly463=) c.892G= (p.Gly298=) c.-14+3870C= (n.-14+3870C=) | |
6 | g.31817143G>T | CA363417931 | HSPA1A,HSPA1L | c.1387G>T (p.Gly463Cys) c.892G>T (p.Gly298Cys) c.-14+3870C>A (n.-14+3870C>A) | |
6 | g.31817144G>A | CA363417932 | HSPA1A,HSPA1L | c.1388G>A (p.Gly463Asp) c.893G>A (p.Gly298Asp) c.-14+3869C>T (n.-14+3869C>T) | gnomAD v4 |
6 | g.31817144G>C | CA363417933 | HSPA1A,HSPA1L | c.1388G>C (p.Gly463Ala) c.893G>C (p.Gly298Ala) c.-14+3869C>G (n.-14+3869C>G) | |
6 | g.31817144G>T | CA363417937 | HSPA1A,HSPA1L | c.1388G>T (p.Gly463Val) c.893G>T (p.Gly298Val) c.-14+3869C>A (n.-14+3869C>A) | |
6 | g.31817145C>A | CA449806431 | HSPA1A,HSPA1L | c.1389C>A (p.Gly463=) c.894C>A (p.Gly298=) c.-14+3868G>T (n.-14+3868G>T) | |
6 | g.31817145C>G | CA449806432 | HSPA1A,HSPA1L | c.1389C>G (p.Gly463=) c.894C>G (p.Gly298=) c.-14+3868G>C (n.-14+3868G>C) | |
6 | g.31817145C>T | CA449806433 | HSPA1A,HSPA1L | c.1389C>T (p.Gly463=) c.894C>T (p.Gly298=) c.-14+3868G>A (n.-14+3868G>A) | |
6 | g.31817146A>C | CA363417942 | HSPA1A,HSPA1L | c.1390A>C (p.Ile464Leu) c.895A>C (p.Ile299Leu) c.-14+3867T>G (n.-14+3867T>G) | |
6 | g.31817146A>G | CA363417945 | HSPA1A,HSPA1L | c.1390A>G (p.Ile464Val) c.895A>G (p.Ile299Val) c.-14+3867T>C (n.-14+3867T>C) | |
6 | g.31817146A>T | CA363417949 | HSPA1A,HSPA1L | c.1390A>T (p.Ile464Phe) c.895A>T (p.Ile299Phe) c.-14+3867T>A (n.-14+3867T>A) | |
6 | g.31817147T>A | CA363417955 | HSPA1A,HSPA1L | c.1391T>A (p.Ile464Asn) c.896T>A (p.Ile299Asn) c.-14+3866A>T (n.-14+3866A>T) | |
6 | g.31817147T>C | CA363417963 | HSPA1A,HSPA1L | c.1391T>C (p.Ile464Thr) c.896T>C (p.Ile299Thr) c.-14+3866A>G (n.-14+3866A>G) | |
6 | g.31817147T>G | CA363417968 | HSPA1A,HSPA1L | c.1391T>G (p.Ile464Ser) c.896T>G (p.Ile299Ser) c.-14+3866A>C (n.-14+3866A>C) | |
6 | g.31817148C>A | CA449806434 | HSPA1A,HSPA1L | c.1392C>A (p.Ile464=) c.897C>A (p.Ile299=) c.-14+3865G>T (n.-14+3865G>T) | |
6 | g.31817148C= | CA1619307589 | HSPA1A,HSPA1L | c.1392C= (p.Ile464=) c.897C= (p.Ile299=) c.-14+3865G= (n.-14+3865G=) | |
6 | g.31817148C>G | CA363417976 | HSPA1A,HSPA1L | c.1392C>G (p.Ile464Met) c.897C>G (p.Ile299Met) c.-14+3865G>C (n.-14+3865G>C) | dbSNP |
6 | g.31817148C>T | CA449806435 | HSPA1A,HSPA1L | c.1392C>T (p.Ile464=) c.897C>T (p.Ile299=) c.-14+3865G>A (n.-14+3865G>A) | |
6 | g.31817149C>A | CA363417984 | HSPA1A,HSPA1L | c.1393C>A (p.Pro465Thr) c.898C>A (p.Pro300Thr) c.-14+3864G>T (n.-14+3864G>T) | gnomAD v4 |
6 | g.31817149C>G | CA363417987 | HSPA1A,HSPA1L | c.1393C>G (p.Pro465Ala) c.898C>G (p.Pro300Ala) c.-14+3864G>C (n.-14+3864G>C) | |
6 | g.31817149C>T | CA363417993 | HSPA1A,HSPA1L | c.1393C>T (p.Pro465Ser) c.898C>T (p.Pro300Ser) c.-14+3864G>A (n.-14+3864G>A) | |
6 | g.31817150C>A | CA363417998 | HSPA1A,HSPA1L | c.1394C>A (p.Pro465His) c.899C>A (p.Pro300His) c.-14+3863G>T (n.-14+3863G>T) | gnomAD v4 |
6 | g.31817150C>G | CA363417999 | HSPA1A,HSPA1L | c.1394C>G (p.Pro465Arg) c.899C>G (p.Pro300Arg) c.-14+3863G>C (n.-14+3863G>C) | |
6 | g.31817150C>T | CA363418001 | HSPA1A,HSPA1L | c.1394C>T (p.Pro465Leu) c.899C>T (p.Pro300Leu) c.-14+3863G>A (n.-14+3863G>A) | gnomAD v4 |
6 | g.31817151T>A | CA449806436 | HSPA1A,HSPA1L | c.1395T>A (p.Pro465=) c.900T>A (p.Pro300=) c.-14+3862A>T (n.-14+3862A>T) | |
6 | g.31817151T>C | CA449806437 | HSPA1A,HSPA1L | c.1395T>C (p.Pro465=) c.900T>C (p.Pro300=) c.-14+3862A>G (n.-14+3862A>G) | |
6 | g.31817151T>G | CA449806438 | HSPA1A,HSPA1L | c.1395T>G (p.Pro465=) c.900T>G (p.Pro300=) c.-14+3862A>C (n.-14+3862A>C) | |
6 | g.31817152C>A | CA363418005 | HSPA1A,HSPA1L | c.1396C>A (p.Pro466Thr) c.901C>A (p.Pro301Thr) c.-14+3861G>T (n.-14+3861G>T) | |
6 | g.31817152C= | CA1619307590 | HSPA1A,HSPA1L | c.1396C= (p.Pro466=) c.901C= (p.Pro301=) c.-14+3861G= (n.-14+3861G=) | |
6 | g.31817152C>G | CA363418010 | HSPA1A,HSPA1L | c.1396C>G (p.Pro466Ala) c.901C>G (p.Pro301Ala) c.-14+3861G>C (n.-14+3861G>C) | |
6 | g.31817152C>T | CA3724257 | HSPA1A,HSPA1L | c.1396C>T (p.Pro466Ser) c.901C>T (p.Pro301Ser) c.-14+3861G>A (n.-14+3861G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31817153C>A | CA363418023 | HSPA1A,HSPA1L | c.1397C>A (p.Pro466Gln) c.902C>A (p.Pro301Gln) c.-14+3860G>T (n.-14+3860G>T) | gnomAD v4 |
6 | g.31817153C= | CA1619307591 | HSPA1A,HSPA1L | c.1397C= (p.Pro466=) c.902C= (p.Pro301=) c.-14+3860G= (n.-14+3860G=) | |
6 | g.31817153C>G | CA363418025 | HSPA1A,HSPA1L | c.1397C>G (p.Pro466Arg) c.902C>G (p.Pro301Arg) c.-14+3860G>C (n.-14+3860G>C) | |
6 | g.31817153C>T | CA363418029 | HSPA1A,HSPA1L | c.1397C>T (p.Pro466Leu) c.902C>T (p.Pro301Leu) c.-14+3860G>A (n.-14+3860G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31817154G>A | CA449806439 | HSPA1A,HSPA1L | c.1398G>A (p.Pro466=) c.903G>A (p.Pro301=) c.-14+3859C>T (n.-14+3859C>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.31817154G>C | CA449806440 | HSPA1A,HSPA1L | c.1398G>C (p.Pro466=) c.903G>C (p.Pro301=) c.-14+3859C>G (n.-14+3859C>G) | gnomAD v4 |
6 | g.31817154G= | CA1619307592 | HSPA1A,HSPA1L | c.1398G= (p.Pro466=) c.903G= (p.Pro301=) c.-14+3859C= (n.-14+3859C=) | |
6 | g.31817154G>T | CA449806441 | HSPA1A,HSPA1L | c.1398G>T (p.Pro466=) c.903G>T (p.Pro301=) c.-14+3859C>A (n.-14+3859C>A) | gnomAD v3 gnomAD v4 |
6 | g.31817155G>A | CA363418044 | HSPA1A,HSPA1L | c.1399G>A (p.Ala467Thr) c.904G>A (p.Ala302Thr) c.-14+3858C>T (n.-14+3858C>T) | gnomAD v4 |
6 | g.31817155G>C | CA363418048 | HSPA1A,HSPA1L | c.1399G>C (p.Ala467Pro) c.904G>C (p.Ala302Pro) c.-14+3858C>G (n.-14+3858C>G) | |
6 | g.31817155G>T | CA363418040 | HSPA1A,HSPA1L | c.1399G>T (p.Ala467Ser) c.904G>T (p.Ala302Ser) c.-14+3858C>A (n.-14+3858C>A) | gnomAD v4 |
6 | g.31817156C>A | CA363418051 | HSPA1A,HSPA1L | c.1400C>A (p.Ala467Asp) c.905C>A (p.Ala302Asp) c.-14+3857G>T (n.-14+3857G>T) | |
6 | g.31817156C= | CA1619307593 | HSPA1A,HSPA1L | c.1400C= (p.Ala467=) c.905C= (p.Ala302=) c.-14+3857G= (n.-14+3857G=) | |
6 | g.31817156C>G | CA363418053 | HSPA1A,HSPA1L | c.1400C>G (p.Ala467Gly) c.905C>G (p.Ala302Gly) c.-14+3857G>C (n.-14+3857G>C) | |
6 | g.31817156C>T | CA363418055 | HSPA1A,HSPA1L | c.1400C>T (p.Ala467Val) c.905C>T (p.Ala302Val) c.-14+3857G>A (n.-14+3857G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31817160del | CA2578570477 | HSPA1A,HSPA1L | c.1404del (p.Arg469GlyfsTer8) c.909del (p.Arg304GlyfsTer8) c.-14+3857del (n.-14+3857del) | |
6 | g.31817157C>A | CA449806442 | HSPA1A,HSPA1L | c.1401C>A (p.Ala467=) c.906C>A (p.Ala302=) c.-14+3856G>T (n.-14+3856G>T) | |
6 | g.31817157C>G | CA449806443 | HSPA1A,HSPA1L | c.1401C>G (p.Ala467=) c.906C>G (p.Ala302=) c.-14+3856G>C (n.-14+3856G>C) | |
6 | g.31817157C>T | CA449806444 | HSPA1A,HSPA1L | c.1401C>T (p.Ala467=) c.906C>T (p.Ala302=) c.-14+3856G>A (n.-14+3856G>A) | |
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 |