| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.179833588_179833783del | CA340742 | SQSTM1 | c.971_1165+1del c.719_913+1del c.950+361_950+556del (n.950+361_950+556del) | |
| 5 | g.179833592G>A | CA448068640 | SQSTM1 | c.975G>A (p.Gln325=) c.723G>A (p.Gln241=) c.950+365G>A (n.950+365G>A) | |
| 5 | g.179833592G>C | CA362452323 | SQSTM1 | c.975G>C (p.Gln325His) c.723G>C (p.Gln241His) c.950+365G>C (n.950+365G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.179833592G= | CA1604334068 | SQSTM1 | c.975G= (p.Gln325=) c.723G= (p.Gln241=) c.950+365G= (n.950+365G=) | |
| 5 | g.179833592G>T | CA362452325 | SQSTM1 | c.975G>T (p.Gln325His) c.723G>T (p.Gln241His) c.950+365G>T (n.950+365G>T) | |
| 5 | g.179833593A>C | CA362452326 | SQSTM1 | c.976A>C (p.Met326Leu) c.724A>C (p.Met242Leu) c.950+366A>C (n.950+366A>C) | |
| 5 | g.179833593A>G | CA362452328 | SQSTM1 | c.976A>G (p.Met326Val) c.724A>G (p.Met242Val) c.950+366A>G (n.950+366A>G) | |
| 5 | g.179833593A>T | CA362452330 | SQSTM1 | c.976A>T (p.Met326Leu) c.724A>T (p.Met242Leu) c.950+366A>T (n.950+366A>T) | |
| 5 | g.179833594T>A | CA362452332 | SQSTM1 | c.977T>A (p.Met326Lys) c.725T>A (p.Met242Lys) c.950+367T>A (n.950+367T>A) | |
| 5 | g.179833594T>C | CA362452334 | SQSTM1 | c.977T>C (p.Met326Thr) c.725T>C (p.Met242Thr) c.950+367T>C (n.950+367T>C) | |
| 5 | g.179833594T>G | CA362452333 | SQSTM1 | c.977T>G (p.Met326Arg) c.725T>G (p.Met242Arg) c.950+367T>G (n.950+367T>G) | |
| 5 | g.179833595G>A | CA362452337 | SQSTM1 | c.978G>A (p.Met326Ile) c.726G>A (p.Met242Ile) c.950+368G>A (n.950+368G>A) | gnomAD v4 |
| 5 | g.179833595G>C | CA362452338 | SQSTM1 | c.978G>C (p.Met326Ile) c.726G>C (p.Met242Ile) c.950+368G>C (n.950+368G>C) | |
| 5 | g.179833595G>T | CA362452340 | SQSTM1 | c.978G>T (p.Met326Ile) c.726G>T (p.Met242Ile) c.950+368G>T (n.950+368G>T) | |
| 5 | g.179833596dup | CA2580074144 | SQSTM1 | c.979dup (p.Glu327GlyfsTer4) c.727dup (p.Glu243GlyfsTer4) c.950+369dup (n.950+369dup) | ClinVar dbSNP |
| 5 | g.179833596G>A | CA362452341 | SQSTM1 | c.979G>A (p.Glu327Lys) c.727G>A (p.Glu243Lys) c.950+369G>A (n.950+369G>A) | ClinVar dbSNP gnomAD v4 |
| 5 | g.179833596G>C | CA362452343 | SQSTM1 | c.979G>C (p.Glu327Gln) c.727G>C (p.Glu243Gln) c.950+369G>C (n.950+369G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.179833596G= | CA1604334069 | SQSTM1 | c.979G= (p.Glu327=) c.727G= (p.Glu243=) c.950+369G= (n.950+369G=) | |
| 5 | g.179833596G>T | CA362452344 | SQSTM1 | c.979G>T (p.Glu327Ter) c.727G>T (p.Glu243Ter) c.950+369G>T (n.950+369G>T) | |
| 5 | g.179833597A>C | CA362452346 | SQSTM1 | c.980A>C (p.Glu327Ala) c.728A>C (p.Glu243Ala) c.950+370A>C (n.950+370A>C) | |
| 5 | g.179833597A>G | CA362452347 | SQSTM1 | c.980A>G (p.Glu327Gly) c.728A>G (p.Glu243Gly) c.950+370A>G (n.950+370A>G) | |
| 5 | g.179833597A>T | CA362452348 | SQSTM1 | c.980A>T (p.Glu327Val) c.728A>T (p.Glu243Val) c.950+370A>T (n.950+370A>T) | |
| 5 | g.179833598G>A | CA448068712 | SQSTM1 | c.981G>A (p.Glu327=) c.729G>A (p.Glu243=) c.950+371G>A (n.950+371G>A) | gnomAD v4 |
| 5 | g.179833598G>C | CA3600772 | SQSTM1 | c.981G>C (p.Glu327Asp) c.729G>C (p.Glu243Asp) c.950+371G>C (n.950+371G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179833598G= | CA1604334070 | SQSTM1 | c.981G= (p.Glu327=) c.729G= (p.Glu243=) c.950+371G= (n.950+371G=) | |
| 5 | g.179833598G>T | CA362452351 | SQSTM1 | c.981G>T (p.Glu327Asp) c.729G>T (p.Glu243Asp) c.950+371G>T (n.950+371G>T) | |
| 5 | g.179833599T>A | CA362452356 | SQSTM1 | c.982T>A (p.Ser328Thr) c.730T>A (p.Ser244Thr) c.950+372T>A (n.950+372T>A) | |
| 5 | g.179833599T>C | CA362452354 | SQSTM1 | c.982T>C (p.Ser328Pro) c.730T>C (p.Ser244Pro) c.950+372T>C (n.950+372T>C) | |
| 5 | g.179833599T>G | CA362452353 | SQSTM1 | c.982T>G (p.Ser328Ala) c.730T>G (p.Ser244Ala) c.950+372T>G (n.950+372T>G) | |
| 5 | g.179833600C>A | CA362452358 | SQSTM1 | c.983C>A (p.Ser328Ter) c.731C>A (p.Ser244Ter) c.950+373C>A (n.950+373C>A) | gnomAD v4 |
| 5 | g.179833600C= | CA1604334071 | SQSTM1 | c.983C= (p.Ser328=) c.731C= (p.Ser244=) c.950+373C= (n.950+373C=) | |
| 5 | g.179833600C>G | CA362452359 | SQSTM1 | c.983C>G (p.Ser328Trp) c.731C>G (p.Ser244Trp) c.950+373C>G (n.950+373C>G) | |
| 5 | g.179833600C>T | CA3600773 | SQSTM1 | c.983C>T (p.Ser328Leu) c.731C>T (p.Ser244Leu) c.950+373C>T (n.950+373C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.179833601G>A | CA3600774 | SQSTM1 | c.984G>A (p.Ser328=) c.732G>A (p.Ser244=) c.950+374G>A (n.950+374G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179833601G>C | CA448068726 | SQSTM1 | c.984G>C (p.Ser328=) c.732G>C (p.Ser244=) c.950+374G>C (n.950+374G>C) | gnomAD v4 |
| 5 | g.179833601G= | CA1604334072 | SQSTM1 | c.984G= (p.Ser328=) c.732G= (p.Ser244=) c.950+374G= (n.950+374G=) | |
| 5 | g.179833601G>T | CA448068731 | SQSTM1 | c.984G>T (p.Ser328=) c.732G>T (p.Ser244=) c.950+374G>T (n.950+374G>T) | |
| 5 | g.179833602G>A | CA362452362 | SQSTM1 | c.985G>A (p.Asp329Asn) c.733G>A (p.Asp245Asn) c.950+375G>A (n.950+375G>A) | ClinVar |
| 5 | g.179833602G>C | CA3600775 | SQSTM1 | c.985G>C (p.Asp329His) c.733G>C (p.Asp245His) c.950+375G>C (n.950+375G>C) | dbSNP ExAC gnomAD v2 |
| 5 | g.179833602G= | CA1604334073 | SQSTM1 | c.985G= (p.Asp329=) c.733G= (p.Asp245=) c.950+375G= (n.950+375G=) | |
| 5 | g.179833602G>T | CA362452366 | SQSTM1 | c.985G>T (p.Asp329Tyr) c.733G>T (p.Asp245Tyr) c.950+375G>T (n.950+375G>T) | |
| 5 | g.179833605_179833625dup | CA2676907473 | SQSTM1 | c.988_1008dup (p.Asp336_Asp337insAsnCysSerGlyGlyAspAsp) c.736_756dup (p.Asp252_Asp253insAsnCysSerGlyGlyAspAsp) c.950+378_950+398dup (n.950+378_950+398dup) | gnomAD v4 |
| 5 | g.179833603A= | CA1604334074 | SQSTM1 | c.986A= (p.Asp329=) c.734A= (p.Asp245=) c.950+376A= (n.950+376A=) | |
| 5 | g.179833603A>C | CA362452368 | SQSTM1 | c.986A>C (p.Asp329Ala) c.734A>C (p.Asp245Ala) c.950+376A>C (n.950+376A>C) | |
| 5 | g.179833603A>G | CA3600776 | SQSTM1 | c.986A>G (p.Asp329Gly) c.734A>G (p.Asp245Gly) c.950+376A>G (n.950+376A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179833603A>T | CA362452371 | SQSTM1 | c.986A>T (p.Asp329Val) c.734A>T (p.Asp245Val) c.950+376A>T (n.950+376A>T) | gnomAD v4 |
| 5 | g.179833604T>A | CA362452372 | SQSTM1 | c.987T>A (p.Asp329Glu) c.735T>A (p.Asp245Glu) c.950+377T>A (n.950+377T>A) | |
| 5 | g.179833604T>C | CA448068767 | SQSTM1 | c.987T>C (p.Asp329=) c.735T>C (p.Asp245=) c.950+377T>C (n.950+377T>C) | |
| 5 | g.179833604T>G | CA362452374 | SQSTM1 | c.987T>G (p.Asp329Glu) c.735T>G (p.Asp245Glu) c.950+377T>G (n.950+377T>G) | |
| 5 | g.179833604_179833605insC | CA2676907474 | SQSTM1 | c.987_988insC (p.Asn330GlnfsTer7) c.735_736insC (p.Asn246GlnfsTer7) c.950+377_950+378insC (n.950+377_950+378insC) | gnomAD v4 |
| 5 | g.179833605A= | CA1604334075 | SQSTM1 | c.988A= (p.Asn330=) c.736A= (p.Asn246=) c.950+378A= (n.950+378A=) | |
| 5 | g.179833605A>C | CA362452376 | SQSTM1 | c.988A>C (p.Asn330His) c.736A>C (p.Asn246His) c.950+378A>C (n.950+378A>C) | |
| 5 | g.179833605A>G | CA362452379 | SQSTM1 | c.988A>G (p.Asn330Asp) c.736A>G (p.Asn246Asp) c.950+378A>G (n.950+378A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.179833605A>T | CA362452378 | SQSTM1 | c.988A>T (p.Asn330Tyr) c.736A>T (p.Asn246Tyr) c.950+378A>T (n.950+378A>T) | |
| 5 | g.179833606A>C | CA362452381 | SQSTM1 | c.989A>C (p.Asn330Thr) c.737A>C (p.Asn246Thr) c.950+379A>C (n.950+379A>C) | ClinVar |
| 5 | g.179833606A>G | CA362452385 | SQSTM1 | c.989A>G (p.Asn330Ser) c.737A>G (p.Asn246Ser) c.950+379A>G (n.950+379A>G) | |
| 5 | g.179833606A>T | CA362452383 | SQSTM1 | c.989A>T (p.Asn330Ile) c.737A>T (p.Asn246Ile) c.950+379A>T (n.950+379A>T) | |
| 5 | g.179833607C>A | CA362452386 | SQSTM1 | c.990C>A (p.Asn330Lys) c.738C>A (p.Asn246Lys) c.950+380C>A (n.950+380C>A) | |
| 5 | g.179833607C= | CA1604334076 | SQSTM1 | c.990C= (p.Asn330=) c.738C= (p.Asn246=) c.950+380C= (n.950+380C=) | |
| 5 | g.179833607C>G | CA362452387 | SQSTM1 | c.990C>G (p.Asn330Lys) c.738C>G (p.Asn246Lys) c.950+380C>G (n.950+380C>G) | gnomAD v4 |
| 5 | g.179833607C>T | CA448068820 | SQSTM1 | c.990C>T (p.Asn330=) c.738C>T (p.Asn246=) c.950+380C>T (n.950+380C>T) | dbSNP |
| 5 | g.179833608T>A | CA362452390 | SQSTM1 | c.991T>A (p.Cys331Ser) c.739T>A (p.Cys247Ser) c.950+381T>A (n.950+381T>A) | |
| 5 | g.179833608T>C | CA362452391 | SQSTM1 | c.991T>C (p.Cys331Arg) c.739T>C (p.Cys247Arg) c.950+381T>C (n.950+381T>C) | |
| 5 | g.179833608T>G | CA362452393 | SQSTM1 | c.991T>G (p.Cys331Gly) c.739T>G (p.Cys247Gly) c.950+381T>G (n.950+381T>G) | |
| 5 | g.179833609_179833610del | CA2769656819 | SQSTM1 | c.992_993del (p.Cys331PhefsTer5) c.740_741del (p.Cys247PhefsTer5) c.950+382_950+383del (n.950+382_950+383del) | |
| 5 | g.179833609G>A | CA362452395 | SQSTM1 | c.992G>A (p.Cys331Tyr) c.740G>A (p.Cys247Tyr) c.950+382G>A (n.950+382G>A) | |
| 5 | g.179833609G>C | CA362452396 | SQSTM1 | c.992G>C (p.Cys331Ser) c.740G>C (p.Cys247Ser) c.950+382G>C (n.950+382G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.179833609G= | CA1604334077 | SQSTM1 | c.992G= (p.Cys331=) c.740G= (p.Cys247=) c.950+382G= (n.950+382G=) | |
| 5 | g.179833609G>T | CA362452398 | SQSTM1 | c.992G>T (p.Cys331Phe) c.740G>T (p.Cys247Phe) c.950+382G>T (n.950+382G>T) | |
| 5 | g.179833610T>A | CA362452400 | SQSTM1 | c.993T>A (p.Cys331Ter) c.741T>A (p.Cys247Ter) c.950+383T>A (n.950+383T>A) | |
| 5 | g.179833610T>C | CA448068845 | SQSTM1 | c.993T>C (p.Cys331=) c.741T>C (p.Cys247=) c.950+383T>C (n.950+383T>C) | |
| 5 | g.179833610T>G | CA362452401 | SQSTM1 | c.993T>G (p.Cys331Trp) c.741T>G (p.Cys247Trp) c.950+383T>G (n.950+383T>G) | |
| 5 | g.179833611T>A | CA362452402 | SQSTM1 | c.994T>A (p.Ser332Thr) c.742T>A (p.Ser248Thr) c.950+384T>A (n.950+384T>A) | ClinVar |
| 5 | g.179833611T>C | CA362452404 | SQSTM1 | c.994T>C (p.Ser332Pro) c.742T>C (p.Ser248Pro) c.950+384T>C (n.950+384T>C) | |
| 5 | g.179833611T>G | CA362452406 | SQSTM1 | c.994T>G (p.Ser332Ala) c.742T>G (p.Ser248Ala) c.950+384T>G (n.950+384T>G) | |
| 5 | g.179833612C>A | CA362452409 | SQSTM1 | c.995C>A (p.Ser332Ter) c.743C>A (p.Ser248Ter) c.950+385C>A (n.950+385C>A) | |
| 5 | g.179833612C= | CA1604334079 | SQSTM1 | c.995C= (p.Ser332=) c.743C= (p.Ser248=) c.950+385C= (n.950+385C=) | |
| 5 | g.179833612C>G | CA362452408 | SQSTM1 | c.995C>G (p.Ser332Ter) c.743C>G (p.Ser248Ter) c.950+385C>G (n.950+385C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.179833612C>T | CA362452407 | SQSTM1 | c.995C>T (p.Ser332Leu) c.743C>T (p.Ser248Leu) c.950+385C>T (n.950+385C>T) | ClinVar dbSNP gnomAD v4 |
| 5 | g.179833612_179833615delinsCAGG | CA1604334078 | SQSTM1 | c.995_998delinsCAGG (p.Ser332=) c.743_746delinsCAGG (p.Ser248=) c.950+385_950+388delinsCAGG (n.950+385_950+388delinsCAGG) | |
| 5 | g.179833613A= | CA1604334080 | SQSTM1 | c.996A= (p.Ser332=) c.744A= (p.Ser248=) c.950+386A= (n.950+386A=) | |
| 5 | g.179833613A>C | CA448068859 | SQSTM1 | c.996A>C (p.Ser332=) c.744A>C (p.Ser248=) c.950+386A>C (n.950+386A>C) | |
| 5 | g.179833613A>G | CA3600778 | SQSTM1 | c.996A>G (p.Ser332=) c.744A>G (p.Ser248=) c.950+386A>G (n.950+386A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179833613A>T | CA448068866 | SQSTM1 | c.996A>T (p.Ser332=) c.744A>T (p.Ser248=) c.950+386A>T (n.950+386A>T) | |
| 5 | g.179833618_179833620del | CA3600777 | SQSTM1 | c.1001_1003del (p.Gly334del) c.749_751del (p.Gly250del) c.950+391_950+393del (n.950+391_950+393del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179833614G>A | CA362452414 | SQSTM1 | c.997G>A (p.Gly333Arg) c.745G>A (p.Gly249Arg) c.950+387G>A (n.950+387G>A) | |
| 5 | g.179833614G>C | CA362452415 | SQSTM1 | c.997G>C (p.Gly333Arg) c.745G>C (p.Gly249Arg) c.950+387G>C (n.950+387G>C) | |
| 5 | g.179833614G>T | CA362452417 | SQSTM1 | c.997G>T (p.Gly333Ter) c.745G>T (p.Gly249Ter) c.950+387G>T (n.950+387G>T) | |
| 5 | g.179833615G>A | CA3600779 | SQSTM1 | c.998G>A (p.Gly333Glu) c.746G>A (p.Gly249Glu) c.950+388G>A (n.950+388G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179833615G>C | CA362452418 | SQSTM1 | c.998G>C (p.Gly333Ala) c.746G>C (p.Gly249Ala) c.950+388G>C (n.950+388G>C) | |
| 5 | g.179833615G= | CA1604334081 | SQSTM1 | c.998G= (p.Gly333=) c.746G= (p.Gly249=) c.950+388G= (n.950+388G=) | |
| 5 | g.179833615G>T | CA362452420 | SQSTM1 | c.998G>T (p.Gly333Val) c.746G>T (p.Gly249Val) c.950+388G>T (n.950+388G>T) | |
| 5 | g.179833616A= | CA1604334082 | SQSTM1 | c.999A= (p.Gly333=) c.747A= (p.Gly249=) c.950+389A= (n.950+389A=) | |
| 5 | g.179833616A>C | CA448068906 | SQSTM1 | c.999A>C (p.Gly333=) c.747A>C (p.Gly249=) c.950+389A>C (n.950+389A>C) | |
| 5 | g.179833616A>G | CA448068909 | SQSTM1 | c.999A>G (p.Gly333=) c.747A>G (p.Gly249=) c.950+389A>G (n.950+389A>G) | |
| 5 | g.179833616A>T | CA448068910 | SQSTM1 | c.999A>T (p.Gly333=) c.747A>T (p.Gly249=) c.950+389A>T (n.950+389A>T) | dbSNP |
| 5 | g.179833617G>A | CA362452422 | SQSTM1 | c.1000G>A (p.Gly334Arg) c.748G>A (p.Gly250Arg) c.950+390G>A (n.950+390G>A) | |
| 5 | g.179833617G>C | CA362452423 | SQSTM1 | c.1000G>C (p.Gly334Arg) c.748G>C (p.Gly250Arg) c.950+390G>C (n.950+390G>C) | |
| 5 | g.179833617G>T | CA362452425 | SQSTM1 | c.1000G>T (p.Gly334Ter) c.748G>T (p.Gly250Ter) c.950+390G>T (n.950+390G>T) | |
| 5 | g.179833618G>A | CA362452430 | SQSTM1 | c.1001G>A (p.Gly334Glu) c.749G>A (p.Gly250Glu) c.950+391G>A (n.950+391G>A) | ClinVar gnomAD v4 |
| 5 | g.179833618G>C | CA362452428 | SQSTM1 | c.1001G>C (p.Gly334Ala) c.749G>C (p.Gly250Ala) c.950+391G>C (n.950+391G>C) | |
| 5 | g.179833618G>T | CA362452426 | SQSTM1 | c.1001G>T (p.Gly334Val) c.749G>T (p.Gly250Val) c.950+391G>T (n.950+391G>T) | |
| 5 | g.179833619A>C | CA448068928 | SQSTM1 | c.1002A>C (p.Gly334=) c.750A>C (p.Gly250=) c.950+392A>C (n.950+392A>C) | |
| 5 | g.179833619A>G | CA448068936 | SQSTM1 | c.1002A>G (p.Gly334=) c.750A>G (p.Gly250=) c.950+392A>G (n.950+392A>G) | |
| 5 | g.179833619A>T | CA448068939 | SQSTM1 | c.1002A>T (p.Gly334=) c.750A>T (p.Gly250=) c.950+392A>T (n.950+392A>T) | ClinVar gnomAD v4 |
| 5 | g.179833620G>A | CA362452431 | SQSTM1 | c.1003G>A (p.Asp335Asn) c.751G>A (p.Asp251Asn) c.950+393G>A (n.950+393G>A) | |
| 5 | g.179833620G>C | CA362452433 | SQSTM1 | c.1003G>C (p.Asp335His) c.751G>C (p.Asp251His) c.950+393G>C (n.950+393G>C) | |
| 5 | g.179833620G>T | CA362452434 | SQSTM1 | c.1003G>T (p.Asp335Tyr) c.751G>T (p.Asp251Tyr) c.950+393G>T (n.950+393G>T) | |
| 5 | g.179833625_179833627dup | CA2676907486 | SQSTM1 | c.1008_1010dup (p.Asp337_Trp338insAsp) c.756_758dup (p.Asp253_Trp254insAsp) c.950+398_950+400dup (n.950+398_950+400dup) | gnomAD v4 |
| 5 | g.179833625_179833627del | CA2578507792 | SQSTM1 | c.1008_1010del (p.Asp337del) c.756_758del (p.Asp253del) c.950+398_950+400del (n.950+398_950+400del) | ClinVar gnomAD v4 |
| 5 | g.179833621A>C | CA362452436 | SQSTM1 | c.1004A>C (p.Asp335Ala) c.752A>C (p.Asp251Ala) c.950+394A>C (n.950+394A>C) | |
| 5 | g.179833621A>G | CA362452438 | SQSTM1 | c.1004A>G (p.Asp335Gly) c.752A>G (p.Asp251Gly) c.950+394A>G (n.950+394A>G) | gnomAD v4 |
| 5 | g.179833621A>T | CA362452440 | SQSTM1 | c.1004A>T (p.Asp335Val) c.752A>T (p.Asp251Val) c.950+394A>T (n.950+394A>T) | |
| 5 | g.179833622T>A | CA362452441 | SQSTM1 | c.1005T>A (p.Asp335Glu) c.753T>A (p.Asp251Glu) c.950+395T>A (n.950+395T>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.179833622T>C | CA448068981 | SQSTM1 | c.1005T>C (p.Asp335=) c.753T>C (p.Asp251=) c.950+395T>C (n.950+395T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179833622T>G | CA362452442 | SQSTM1 | c.1005T>G (p.Asp335Glu) c.753T>G (p.Asp251Glu) c.950+395T>G (n.950+395T>G) | |
| 5 | g.179833622T= | CA1604334083 | SQSTM1 | c.1005T= (p.Asp335=) c.753T= (p.Asp251=) c.950+395T= (n.950+395T=) | |
| 5 | g.179833622_179833623insC | CA2740094216 | SQSTM1 | c.1005_1006insC (p.Asp336ArgfsTer2) c.753_754insC (p.Asp252ArgfsTer2) c.950+395_950+396insC (n.950+395_950+396insC) | ClinVar |
| 5 | g.179833623G>A | CA362452444 | SQSTM1 | c.1006G>A (p.Asp336Asn) c.754G>A (p.Asp252Asn) c.950+396G>A (n.950+396G>A) | ClinVar dbSNP |
| 5 | g.179833623G>C | CA362452445 | SQSTM1 | c.1006G>C (p.Asp336His) c.754G>C (p.Asp252His) c.950+396G>C (n.950+396G>C) | |
| 5 | g.179833623G= | CA1604334084 | SQSTM1 | c.1006G= (p.Asp336=) c.754G= (p.Asp252=) c.950+396G= (n.950+396G=) | |
| 5 | g.179833623G>T | CA362452447 | SQSTM1 | c.1006G>T (p.Asp336Tyr) c.754G>T (p.Asp252Tyr) c.950+396G>T (n.950+396G>T) | |
| 5 | g.179833624A>C | CA362452452 | SQSTM1 | c.1007A>C (p.Asp336Ala) c.755A>C (p.Asp252Ala) c.950+397A>C (n.950+397A>C) | |
| 5 | g.179833624A>G | CA362452450 | SQSTM1 | c.1007A>G (p.Asp336Gly) c.755A>G (p.Asp252Gly) c.950+397A>G (n.950+397A>G) | gnomAD v4 |
| 5 | g.179833624A>T | CA362452449 | SQSTM1 | c.1007A>T (p.Asp336Val) c.755A>T (p.Asp252Val) c.950+397A>T (n.950+397A>T) | |
| 5 | g.179833625T>A | CA362452453 | SQSTM1 | c.1008T>A (p.Asp336Glu) c.756T>A (p.Asp252Glu) c.950+398T>A (n.950+398T>A) | |
| 5 | g.179833625T>C | CA133109693 | SQSTM1 | c.1008T>C (p.Asp336=) c.756T>C (p.Asp252=) c.950+398T>C (n.950+398T>C) | ClinVar dbSNP |
| 5 | g.179833625T>G | CA362452455 | SQSTM1 | c.1008T>G (p.Asp336Glu) c.756T>G (p.Asp252Glu) c.950+398T>G (n.950+398T>G) | gnomAD v4 |
| 5 | g.179833625T= | CA1604334085 | SQSTM1 | c.1008T= (p.Asp336=) c.756T= (p.Asp252=) c.950+398T= (n.950+398T=) | |
| 5 | g.179833626G>A | CA362452456 | SQSTM1 | c.1009G>A (p.Asp337Asn) c.757G>A (p.Asp253Asn) c.950+399G>A (n.950+399G>A) | dbSNP |
| 5 | g.179833626G>C | CA362452457 | SQSTM1 | c.1009G>C (p.Asp337His) c.757G>C (p.Asp253His) c.950+399G>C (n.950+399G>C) | |
| 5 | g.179833626G= | CA1604334086 | SQSTM1 | c.1009G= (p.Asp337=) c.757G= (p.Asp253=) c.950+399G= (n.950+399G=) | |
| 5 | g.179833626G>T | CA362452458 | SQSTM1 | c.1009G>T (p.Asp337Tyr) c.757G>T (p.Asp253Tyr) c.950+399G>T (n.950+399G>T) | |
| 5 | g.179833627A>C | CA362452460 | SQSTM1 | c.1010A>C (p.Asp337Ala) c.758A>C (p.Asp253Ala) c.950+400A>C (n.950+400A>C) | |
| 5 | g.179833627A>G | CA362452462 | SQSTM1 | c.1010A>G (p.Asp337Gly) c.758A>G (p.Asp253Gly) c.950+400A>G (n.950+400A>G) | |
| 5 | g.179833627A>T | CA362452463 | SQSTM1 | c.1010A>T (p.Asp337Val) c.758A>T (p.Asp253Val) c.950+400A>T (n.950+400A>T) | |
| 5 | g.179833628C>A | CA362452465 | SQSTM1 | c.1011C>A (p.Asp337Glu) c.759C>A (p.Asp253Glu) c.950+401C>A (n.950+401C>A) | |
| 5 | g.179833628C= | CA1604334087 | SQSTM1 | c.1011C= (p.Asp337=) c.759C= (p.Asp253=) c.950+401C= (n.950+401C=) | |
| 5 | g.179833628C>G | CA362452467 | SQSTM1 | c.1011C>G (p.Asp337Glu) c.759C>G (p.Asp253Glu) c.950+401C>G (n.950+401C>G) | dbSNP gnomAD v4 |
| 5 | g.179833628C>T | CA448069035 | SQSTM1 | c.1011C>T (p.Asp337=) c.759C>T (p.Asp253=) c.950+401C>T (n.950+401C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.179833629T>A | CA362452470 | SQSTM1 | c.1012T>A (p.Trp338Arg) c.760T>A (p.Trp254Arg) c.950+402T>A (n.950+402T>A) | |
| 5 | g.179833629T>C | CA362452472 | SQSTM1 | c.1012T>C (p.Trp338Arg) c.760T>C (p.Trp254Arg) c.950+402T>C (n.950+402T>C) | |
| 5 | g.179833629T>G | CA362452474 | SQSTM1 | c.1012T>G (p.Trp338Gly) c.760T>G (p.Trp254Gly) c.950+402T>G (n.950+402T>G) | |
| 5 | g.179833630G>A | CA362452478 | SQSTM1 | c.1013G>A (p.Trp338Ter) c.761G>A (p.Trp254Ter) c.950+403G>A (n.950+403G>A) | |
| 5 | g.179833630G>C | CA362452477 | SQSTM1 | c.1013G>C (p.Trp338Ser) c.761G>C (p.Trp254Ser) c.950+403G>C (n.950+403G>C) | |
| 5 | g.179833630G= | CA1604334088 | SQSTM1 | c.1013G= (p.Trp338=) c.761G= (p.Trp254=) c.950+403G= (n.950+403G=) | |
| 5 | g.179833630G>T | CA362452475 | SQSTM1 | c.1013G>T (p.Trp338Leu) c.761G>T (p.Trp254Leu) c.950+403G>T (n.950+403G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.179833631del | CA2695205810 | SQSTM1 | c.1014del (p.Trp338Ter) c.762del (p.Trp254Ter) c.950+404del (n.950+404del) | |
| 5 | g.179833631G>A | CA362452481 | SQSTM1 | c.1014G>A (p.Trp338Ter) c.762G>A (p.Trp254Ter) c.950+404G>A (n.950+404G>A) | dbSNP gnomAD v4 |
| 5 | g.179833631G>C | CA362452480 | SQSTM1 | c.1014G>C (p.Trp338Cys) c.762G>C (p.Trp254Cys) c.950+404G>C (n.950+404G>C) | ClinVar |
| 5 | g.179833631G= | CA1604334089 | SQSTM1 | c.1014G= (p.Trp338=) c.762G= (p.Trp254=) c.950+404G= (n.950+404G=) | |
| 5 | g.179833631G>T | CA362452483 | SQSTM1 | c.1014G>T (p.Trp338Cys) c.762G>T (p.Trp254Cys) c.950+404G>T (n.950+404G>T) | |
| 5 | g.179833632A>C | CA362452485 | SQSTM1 | c.1015A>C (p.Thr339Pro) c.763A>C (p.Thr255Pro) c.950+405A>C (n.950+405A>C) | |
| 5 | g.179833632A>G | CA362452487 | SQSTM1 | c.1015A>G (p.Thr339Ala) c.763A>G (p.Thr255Ala) c.950+405A>G (n.950+405A>G) | |
| 5 | g.179833632A>T | CA362452488 | SQSTM1 | c.1015A>T (p.Thr339Ser) c.763A>T (p.Thr255Ser) c.950+405A>T (n.950+405A>T) | |
| 5 | g.179833633C>A | CA362452490 | SQSTM1 | c.1016C>A (p.Thr339Asn) c.764C>A (p.Thr255Asn) c.950+406C>A (n.950+406C>A) | |
| 5 | g.179833633C>G | CA362452491 | SQSTM1 | c.1016C>G (p.Thr339Ser) c.764C>G (p.Thr255Ser) c.950+406C>G (n.950+406C>G) | |
| 5 | g.179833633C>T | CA362452493 | SQSTM1 | c.1016C>T (p.Thr339Ile) c.764C>T (p.Thr255Ile) c.950+406C>T (n.950+406C>T) | gnomAD v4 |
| 5 | g.179833634C>A | CA448069085 | SQSTM1 | c.1017C>A (p.Thr339=) c.765C>A (p.Thr255=) c.950+407C>A (n.950+407C>A) | |
| 5 | g.179833634C= | CA1604334090 | SQSTM1 | c.1017C= (p.Thr339=) c.765C= (p.Thr255=) c.950+407C= (n.950+407C=) | |
| 5 | g.179833634C>G | CA448069087 | SQSTM1 | c.1017C>G (p.Thr339=) c.765C>G (p.Thr255=) c.950+407C>G (n.950+407C>G) | |
| 5 | g.179833634C>T | CA3600780 | SQSTM1 | c.1017C>T (p.Thr339=) c.765C>T (p.Thr255=) c.950+407C>T (n.950+407C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.179833635_179833638dup | CA2578507793 | SQSTM1 | c.1018_1021dup (p.Leu341ProfsTer13) c.766_769dup (p.Leu257ProfsTer13) c.950+408_950+411dup (n.950+408_950+411dup) | |
| 5 | g.179833635C>A | CA362452495 | SQSTM1 | c.1018C>A (p.His340Asn) c.766C>A (p.His256Asn) c.950+408C>A (n.950+408C>A) | |
| 5 | g.179833635C= | CA1604334091 | SQSTM1 | c.1018C= (p.His340=) c.766C= (p.His256=) c.950+408C= (n.950+408C=) | |
| 5 | g.179833635C>G | CA362452497 | SQSTM1 | c.1018C>G (p.His340Asp) c.766C>G (p.His256Asp) c.950+408C>G (n.950+408C>G) | |
| 5 | g.179833635C>T | CA362452498 | SQSTM1 | c.1018C>T (p.His340Tyr) c.766C>T (p.His256Tyr) c.950+408C>T (n.950+408C>T) | dbSNP |
| 5 | g.179833636A= | CA1604334092 | SQSTM1 | c.1019A= (p.His340=) c.767A= (p.His256=) c.950+409A= (n.950+409A=) | |
| 5 | g.179833636A>C | CA362452500 | SQSTM1 | c.1019A>C (p.His340Pro) c.767A>C (p.His256Pro) c.950+409A>C (n.950+409A>C) | |
| 5 | g.179833636A>G | CA362452502 | SQSTM1 | c.1019A>G (p.His340Arg) c.767A>G (p.His256Arg) c.950+409A>G (n.950+409A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.179833636A>T | CA3600781 | SQSTM1 | c.1019A>T (p.His340Leu) c.767A>T (p.His256Leu) c.950+409A>T (n.950+409A>T) | dbSNP ExAC gnomAD v2 |
| 5 | g.179833637T>A | CA362452504 | SQSTM1 | c.1020T>A (p.His340Gln) c.768T>A (p.His256Gln) c.950+410T>A (n.950+410T>A) | |
| 5 | g.179833637T>C | CA448069125 | SQSTM1 | c.1020T>C (p.His340=) c.768T>C (p.His256=) c.950+410T>C (n.950+410T>C) | gnomAD v4 |
| 5 | g.179833637T>G | CA362452505 | SQSTM1 | c.1020T>G (p.His340Gln) c.768T>G (p.His256Gln) c.950+410T>G (n.950+410T>G) | |
| 5 | g.179833638C>A | CA362452507 | SQSTM1 | c.1021C>A (p.Leu341Met) c.769C>A (p.Leu257Met) c.950+411C>A (n.950+411C>A) | |
| 5 | g.179833638C= | CA1604334093 | SQSTM1 | c.1021C= (p.Leu341=) c.769C= (p.Leu257=) c.950+411C= (n.950+411C=) | |
| 5 | g.179833638C>G | CA3600782 | SQSTM1 | c.1021C>G (p.Leu341Val) c.769C>G (p.Leu257Val) c.950+411C>G (n.950+411C>G) | dbSNP ExAC gnomAD v4 |
| 5 | g.179833638C>T | CA448069136 | SQSTM1 | c.1021C>T (p.Leu341=) c.769C>T (p.Leu257=) c.950+411C>T (n.950+411C>T) | gnomAD v4 |
| 5 | g.179833639T>A | CA362452510 | SQSTM1 | c.1022T>A (p.Leu341Gln) c.770T>A (p.Leu257Gln) c.950+412T>A (n.950+412T>A) | |
| 5 | g.179833639T>C | CA362452511 | SQSTM1 | c.1022T>C (p.Leu341Pro) c.770T>C (p.Leu257Pro) c.950+412T>C (n.950+412T>C) | |
| 5 | g.179833639T>G | CA362452513 | SQSTM1 | c.1022T>G (p.Leu341Arg) c.770T>G (p.Leu257Arg) c.950+412T>G (n.950+412T>G) | |
| 5 | g.179833640G>A | CA448069154 | SQSTM1 | c.1023G>A (p.Leu341=) c.771G>A (p.Leu257=) c.950+413G>A (n.950+413G>A) | gnomAD v4 |
| 5 | g.179833640G>C | CA448069157 | SQSTM1 | c.1023G>C (p.Leu341=) c.771G>C (p.Leu257=) c.950+413G>C (n.950+413G>C) | |
| 5 | g.179833640G>T | CA448069159 | SQSTM1 | c.1023G>T (p.Leu341=) c.771G>T (p.Leu257=) c.950+413G>T (n.950+413G>T) | |
| 5 | g.179833641T>A | CA362452515 | SQSTM1 | c.1024T>A (p.Ser342Thr) c.772T>A (p.Ser258Thr) c.950+414T>A (n.950+414T>A) | |
| 5 | g.179833641T>C | CA362452517 | SQSTM1 | c.1024T>C (p.Ser342Pro) c.772T>C (p.Ser258Pro) c.950+414T>C (n.950+414T>C) | gnomAD v4 |
| 5 | g.179833641T>G | CA362452518 | SQSTM1 | c.1024T>G (p.Ser342Ala) c.772T>G (p.Ser258Ala) c.950+414T>G (n.950+414T>G) | |
| 5 | g.179833642C>A | CA362452520 | SQSTM1 | c.1025C>A (p.Ser342Tyr) c.773C>A (p.Ser258Tyr) c.950+415C>A (n.950+415C>A) | |
| 5 | g.179833642C>G | CA362452521 | SQSTM1 | c.1025C>G (p.Ser342Cys) c.773C>G (p.Ser258Cys) c.950+415C>G (n.950+415C>G) | |
| 5 | g.179833642C>T | CA362452523 | SQSTM1 | c.1025C>T (p.Ser342Phe) c.773C>T (p.Ser258Phe) c.950+415C>T (n.950+415C>T) | |
| 5 | g.179833643T>A | CA448069169 | SQSTM1 | c.1026T>A (p.Ser342=) c.774T>A (p.Ser258=) c.950+416T>A (n.950+416T>A) | |
| 5 | g.179833643T>C | CA448069170 | SQSTM1 | c.1026T>C (p.Ser342=) c.774T>C (p.Ser258=) c.950+416T>C (n.950+416T>C) | |
| 5 | g.179833643T>G | CA448069172 | SQSTM1 | c.1026T>G (p.Ser342=) c.774T>G (p.Ser258=) c.950+416T>G (n.950+416T>G) | |
| 5 | g.179833644T>A | CA362452526 | SQSTM1 | c.1027T>A (p.Ser343Thr) c.775T>A (p.Ser259Thr) c.950+417T>A (n.950+417T>A) | |
| 5 | g.179833644T>C | CA362452528 | SQSTM1 | c.1027T>C (p.Ser343Pro) c.775T>C (p.Ser259Pro) c.950+417T>C (n.950+417T>C) | |
| 5 | g.179833644T>G | CA362452525 | SQSTM1 | c.1027T>G (p.Ser343Ala) c.775T>G (p.Ser259Ala) c.950+417T>G (n.950+417T>G) | |
| 5 | g.179833645C>A | CA362452530 | SQSTM1 | c.1028C>A (p.Ser343Ter) c.776C>A (p.Ser259Ter) c.950+418C>A (n.950+418C>A) | |
| 5 | g.179833645C>G | CA362452531 | SQSTM1 | c.1028C>G (p.Ser343Ter) c.776C>G (p.Ser259Ter) c.950+418C>G (n.950+418C>G) | |
| 5 | g.179833645C>T | CA362452533 | SQSTM1 | c.1028C>T (p.Ser343Leu) c.776C>T (p.Ser259Leu) c.950+418C>T (n.950+418C>T) | |
| 5 | g.179833646A>C | CA448069189 | SQSTM1 | c.1029A>C (p.Ser343=) c.777A>C (p.Ser259=) c.950+419A>C (n.950+419A>C) | |
| 5 | g.179833646A>G | CA448069190 | SQSTM1 | c.1029A>G (p.Ser343=) c.777A>G (p.Ser259=) c.950+419A>G (n.950+419A>G) | |
| 5 | g.179833646A>T | CA448069194 | SQSTM1 | c.1029A>T (p.Ser343=) c.777A>T (p.Ser259=) c.950+419A>T (n.950+419A>T) | |
| 5 | g.179833647A= | CA1604334095 | SQSTM1 | c.1030A= (p.Lys344=) c.778A= (p.Lys260=) c.950+420A= (n.950+420A=) | |
| 5 | g.179833647A>C | CA362452535 | SQSTM1 | c.1030A>C (p.Lys344Gln) c.778A>C (p.Lys260Gln) c.950+420A>C (n.950+420A>C) | ClinVar dbSNP gnomAD v4 |
| 5 | g.179833647A>G | CA362452537 | SQSTM1 | c.1030A>G (p.Lys344Glu) c.778A>G (p.Lys260Glu) c.950+420A>G (n.950+420A>G) | dbSNP gnomAD v4 |
| 5 | g.179833647A>T | CA362452538 | SQSTM1 | c.1030A>T (p.Lys344Ter) c.778A>T (p.Lys260Ter) c.950+420A>T (n.950+420A>T) | |
| 5 | g.179833647_179833650delinsAAAG | CA1604334094 | SQSTM1 | c.1030_1033delinsAAAG (p.Lys344=) c.778_781delinsAAAG (p.Lys260=) c.950+420_950+423delinsAAAG (n.950+420_950+423delinsAAAG) | |
| 5 | g.179833648A>C | CA362452541 | SQSTM1 | c.1031A>C (p.Lys344Thr) c.779A>C (p.Lys260Thr) c.950+421A>C (n.950+421A>C) | |
| 5 | g.179833648A>G | CA362452542 | SQSTM1 | c.1031A>G (p.Lys344Arg) c.779A>G (p.Lys260Arg) c.950+421A>G (n.950+421A>G) | |
| 5 | g.179833648A>T | CA362452544 | SQSTM1 | c.1031A>T (p.Lys344Ile) c.779A>T (p.Lys260Ile) c.950+421A>T (n.950+421A>T) | |
| 5 | g.179833651_179833653del | CA3600783 | SQSTM1 | c.1034_1036del (p.Glu345del) c.782_784del (p.Glu261del) c.950+424_950+426del (n.950+424_950+426del) | dbSNP ExAC gnomAD v2 |
| 5 | g.179833649A= | CA1604334096 | SQSTM1 | c.1032A= (p.Lys344=) c.780A= (p.Lys260=) c.950+422A= (n.950+422A=) | |
| 5 | g.179833649A>C | CA362452546 | SQSTM1 | c.1032A>C (p.Lys344Asn) c.780A>C (p.Lys260Asn) c.950+422A>C (n.950+422A>C) | |
| 5 | g.179833649A>G | CA133109702 | SQSTM1 | c.1032A>G (p.Lys344=) c.780A>G (p.Lys260=) c.950+422A>G (n.950+422A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179833649A>T | CA362452548 | SQSTM1 | c.1032A>T (p.Lys344Asn) c.780A>T (p.Lys260Asn) c.950+422A>T (n.950+422A>T) | |
| 5 | g.179833650G>A | CA362452551 | SQSTM1 | c.1033G>A (p.Glu345Lys) c.781G>A (p.Glu261Lys) c.950+423G>A (n.950+423G>A) | COSMIC |
| 5 | g.179833650G>C | CA362452553 | SQSTM1 | c.1033G>C (p.Glu345Gln) c.781G>C (p.Glu261Gln) c.950+423G>C (n.950+423G>C) | |
| 5 | g.179833650G>T | CA362452549 | SQSTM1 | c.1033G>T (p.Glu345Ter) c.781G>T (p.Glu261Ter) c.950+423G>T (n.950+423G>T) | gnomAD v4 |
| 5 | g.179833651A>C | CA362452555 | SQSTM1 | c.1034A>C (p.Glu345Ala) c.782A>C (p.Glu261Ala) c.950+424A>C (n.950+424A>C) | |
| 5 | g.179833651A>G | CA362452557 | SQSTM1 | c.1034A>G (p.Glu345Gly) c.782A>G (p.Glu261Gly) c.950+424A>G (n.950+424A>G) | |
| 5 | g.179833651A>T | CA362452558 | SQSTM1 | c.1034A>T (p.Glu345Val) c.782A>T (p.Glu261Val) c.950+424A>T (n.950+424A>T) | |
| 5 | g.179833652A>C | CA362452560 | SQSTM1 | c.1035A>C (p.Glu345Asp) c.783A>C (p.Glu261Asp) c.950+425A>C (n.950+425A>C) | |
| 5 | g.179833652A>G | CA448069239 | SQSTM1 | c.1035A>G (p.Glu345=) c.783A>G (p.Glu261=) c.950+425A>G (n.950+425A>G) | |
| 5 | g.179833652A>T | CA362452561 | SQSTM1 | c.1035A>T (p.Glu345Asp) c.783A>T (p.Glu261Asp) c.950+425A>T (n.950+425A>T) | |
| 5 | g.179833653G>A | CA362452567 | SQSTM1 | c.1036G>A (p.Val346Met) c.784G>A (p.Val262Met) c.950+426G>A (n.950+426G>A) | |
| 5 | g.179833653G>C | CA362452565 | SQSTM1 | c.1036G>C (p.Val346Leu) c.784G>C (p.Val262Leu) c.950+426G>C (n.950+426G>C) | gnomAD v4 |
| 5 | g.179833653G>T | CA362452563 | SQSTM1 | c.1036G>T (p.Val346Leu) c.784G>T (p.Val262Leu) c.950+426G>T (n.950+426G>T) | ClinVar |
| 5 | g.179833654T>A | CA362452568 | SQSTM1 | c.1037T>A (p.Val346Glu) c.785T>A (p.Val262Glu) c.950+427T>A (n.950+427T>A) | dbSNP |
| 5 | g.179833654T>C | CA362452570 | SQSTM1 | c.1037T>C (p.Val346Ala) c.785T>C (p.Val262Ala) c.950+427T>C (n.950+427T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179833654T>G | CA362452572 | SQSTM1 | c.1037T>G (p.Val346Gly) c.785T>G (p.Val262Gly) c.950+427T>G (n.950+427T>G) | |
| 5 | g.179833654T= | CA1604334097 | SQSTM1 | c.1037T= (p.Val346=) c.785T= (p.Val262=) c.950+427T= (n.950+427T=) | |
| 5 | g.179833655G>A | CA3600784 | SQSTM1 | c.1038G>A (p.Val346=) c.786G>A (p.Val262=) c.950+428G>A (n.950+428G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179833655G>C | CA448069258 | SQSTM1 | c.1038G>C (p.Val346=) c.786G>C (p.Val262=) c.950+428G>C (n.950+428G>C) | |
| 5 | g.179833655G= | CA1604334098 | SQSTM1 | c.1038G= (p.Val346=) c.786G= (p.Val262=) c.950+428G= (n.950+428G=) | |
| 5 | g.179833655G>T | CA448069260 | SQSTM1 | c.1038G>T (p.Val346=) c.786G>T (p.Val262=) c.950+428G>T (n.950+428G>T) | |
| 5 | g.179833656G>A | CA3600785 | SQSTM1 | c.1039G>A (p.Asp347Asn) c.787G>A (p.Asp263Asn) c.950+429G>A (n.950+429G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.179833656G>C | CA362452574 | SQSTM1 | c.1039G>C (p.Asp347His) c.787G>C (p.Asp263His) c.950+429G>C (n.950+429G>C) | |
| 5 | g.179833656G= | CA1604334099 | SQSTM1 | c.1039G= (p.Asp347=) c.787G= (p.Asp263=) c.950+429G= (n.950+429G=) | |
| 5 | g.179833656G>T | CA362452576 | SQSTM1 | c.1039G>T (p.Asp347Tyr) c.787G>T (p.Asp263Tyr) c.950+429G>T (n.950+429G>T) | |
| 5 | g.179833657A= | CA1604334100 | SQSTM1 | c.1040A= (p.Asp347=) c.788A= (p.Asp263=) c.950+430A= (n.950+430A=) | |
| 5 | g.179833657A>C | CA362452581 | SQSTM1 | c.1040A>C (p.Asp347Ala) c.788A>C (p.Asp263Ala) c.950+430A>C (n.950+430A>C) | gnomAD v4 |
| 5 | g.179833657A>G | CA362452580 | SQSTM1 | c.1040A>G (p.Asp347Gly) c.788A>G (p.Asp263Gly) c.950+430A>G (n.950+430A>G) | dbSNP gnomAD v4 |
| 5 | g.179833657A>T | CA362452578 | SQSTM1 | c.1040A>T (p.Asp347Val) c.788A>T (p.Asp263Val) c.950+430A>T (n.950+430A>T) | |
| 5 | g.179833658C>A | CA362452582 | SQSTM1 | c.1041C>A (p.Asp347Glu) c.789C>A (p.Asp263Glu) c.950+431C>A (n.950+431C>A) | |
| 5 | g.179833658C= | CA1604334101 | SQSTM1 | c.1041C= (p.Asp347=) c.789C= (p.Asp263=) c.950+431C= (n.950+431C=) | |
| 5 | g.179833658C>G | CA362452583 | SQSTM1 | c.1041C>G (p.Asp347Glu) c.789C>G (p.Asp263Glu) c.950+431C>G (n.950+431C>G) | |
| 5 | g.179833658C>T | CA448069285 | SQSTM1 | c.1041C>T (p.Asp347=) c.789C>T (p.Asp263=) c.950+431C>T (n.950+431C>T) | dbSNP gnomAD v4 |
| 5 | g.179833659C>A | CA362452585 | SQSTM1 | c.1042C>A (p.Pro348Thr) c.790C>A (p.Pro264Thr) c.950+432C>A (n.950+432C>A) | |
| 5 | g.179833659C>G | CA362452587 | SQSTM1 | c.1042C>G (p.Pro348Ala) c.790C>G (p.Pro264Ala) c.950+432C>G (n.950+432C>G) | |
| 5 | g.179833659C>T | CA362452588 | SQSTM1 | c.1042C>T (p.Pro348Ser) c.790C>T (p.Pro264Ser) c.950+432C>T (n.950+432C>T) | gnomAD v4 |
| 5 | g.179833660C>A | CA362452590 | SQSTM1 | c.1043C>A (p.Pro348Gln) c.791C>A (p.Pro264Gln) c.950+433C>A (n.950+433C>A) | |
| 5 | g.179833660C= | CA1604334102 | SQSTM1 | c.1043C= (p.Pro348=) c.791C= (p.Pro264=) c.950+433C= (n.950+433C=) | |
| 5 | g.179833660C>G | CA362452592 | SQSTM1 | c.1043C>G (p.Pro348Arg) c.791C>G (p.Pro264Arg) c.950+433C>G (n.950+433C>G) | |
| 5 | g.179833660C>T | CA16618194 | SQSTM1 | c.1043C>T (p.Pro348Leu) c.791C>T (p.Pro264Leu) c.950+433C>T (n.950+433C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.179833661G>A | CA3600786 | SQSTM1 | c.1044G>A (p.Pro348=) c.792G>A (p.Pro264=) c.950+434G>A (n.950+434G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179833661G>C | CA448069315 | SQSTM1 | c.1044G>C (p.Pro348=) c.792G>C (p.Pro264=) c.950+434G>C (n.950+434G>C) | |
| 5 | g.179833661G= | CA1604334103 | SQSTM1 | c.1044G= (p.Pro348=) c.792G= (p.Pro264=) c.950+434G= (n.950+434G=) | |
| 5 | g.179833661G>T | CA448069318 | SQSTM1 | c.1044G>T (p.Pro348=) c.792G>T (p.Pro264=) c.950+434G>T (n.950+434G>T) | |
| 5 | g.179833662T>A | CA3600787 | SQSTM1 | c.1045T>A (p.Ser349Thr) c.793T>A (p.Ser265Thr) c.950+435T>A (n.950+435T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.179833662T>C | CA362452596 | SQSTM1 | c.1045T>C (p.Ser349Pro) c.793T>C (p.Ser265Pro) c.950+435T>C (n.950+435T>C) | |
| 5 | g.179833662T>G | CA362452597 | SQSTM1 | c.1045T>G (p.Ser349Ala) c.793T>G (p.Ser265Ala) c.950+435T>G (n.950+435T>G) | |
| 5 | g.179833662T= | CA1604334104 | SQSTM1 | c.1045T= (p.Ser349=) c.793T= (p.Ser265=) c.950+435T= (n.950+435T=) | |
| 5 | g.179833663C>A | CA362452601 | SQSTM1 | c.1046C>A (p.Ser349Tyr) c.794C>A (p.Ser265Tyr) c.950+436C>A (n.950+436C>A) | |
| 5 | g.179833663C>G | CA362452603 | SQSTM1 | c.1046C>G (p.Ser349Cys) c.794C>G (p.Ser265Cys) c.950+436C>G (n.950+436C>G) | dbSNP |
| 5 | g.179833663C>T | CA362452605 | SQSTM1 | c.1046C>T (p.Ser349Phe) c.794C>T (p.Ser265Phe) c.950+436C>T (n.950+436C>T) | |
| 5 | g.179833664T>A | CA448069330 | SQSTM1 | c.1047T>A (p.Ser349=) c.795T>A (p.Ser265=) c.950+437T>A (n.950+437T>A) | |
| 5 | g.179833664T>C | CA3600788 | SQSTM1 | c.1047T>C (p.Ser349=) c.795T>C (p.Ser265=) c.950+437T>C (n.950+437T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.179833664T>G | CA448069340 | SQSTM1 | c.1047T>G (p.Ser349=) c.795T>G (p.Ser265=) c.950+437T>G (n.950+437T>G) | |
| 5 | g.179833664T= | CA1604334105 | SQSTM1 | c.1047T= (p.Ser349=) c.795T= (p.Ser265=) c.950+437T= (n.950+437T=) | |
| 5 | g.179833664_179833665delinsTA | CA1604334106 | SQSTM1 | c.1047_1048delinsTA (p.Ser349=) c.795_796delinsTA (p.Ser265=) c.950+437_950+438delinsTA (n.950+437_950+438delinsTA) | |
| 5 | g.179833665del | CA3600789 | SQSTM1 | c.1048del (p.Thr350GlnfsTer28) c.796del (p.Thr266GlnfsTer28) c.950+438del (n.950+438del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.179833665A>C | CA362452612 | SQSTM1 | c.1048A>C (p.Thr350Pro) c.796A>C (p.Thr266Pro) c.950+438A>C (n.950+438A>C) | |
| 5 | g.179833665A>G | CA362452607 | SQSTM1 | c.1048A>G (p.Thr350Ala) c.796A>G (p.Thr266Ala) c.950+438A>G (n.950+438A>G) | |
| 5 | g.179833665A>T | CA362452611 | SQSTM1 | c.1048A>T (p.Thr350Ser) c.796A>T (p.Thr266Ser) c.950+438A>T (n.950+438A>T) | |
| 5 | g.179833666C>A | CA362452615 | SQSTM1 | c.1049C>A (p.Thr350Lys) c.797C>A (p.Thr266Lys) c.950+439C>A (n.950+439C>A) | |
| 5 | g.179833666C>G | CA362452618 | SQSTM1 | c.1049C>G (p.Thr350Arg) c.797C>G (p.Thr266Arg) c.950+439C>G (n.950+439C>G) | ClinVar gnomAD v4 |
| 5 | g.179833666C>T | CA362452621 | SQSTM1 | c.1049C>T (p.Thr350Ile) c.797C>T (p.Thr266Ile) c.950+439C>T (n.950+439C>T) | |
| 5 | g.179833667A>C | CA448069367 | SQSTM1 | c.1050A>C (p.Thr350=) c.798A>C (p.Thr266=) c.950+440A>C (n.950+440A>C) | ClinVar dbSNP gnomAD v4 |
| 5 | g.179833667A>G | CA448069359 | SQSTM1 | c.1050A>G (p.Thr350=) c.798A>G (p.Thr266=) c.950+440A>G (n.950+440A>G) | |
| 5 | g.179833667A>T | CA448069365 | SQSTM1 | c.1050A>T (p.Thr350=) c.798A>T (p.Thr266=) c.950+440A>T (n.950+440A>T) | |
| 5 | g.179833668G>A | CA362452624 | SQSTM1 | c.1051G>A (p.Gly351Ser) c.799G>A (p.Gly267Ser) c.950+441G>A (n.950+441G>A) | |
| 5 | g.179833668G>C | CA362452625 | SQSTM1 | c.1051G>C (p.Gly351Arg) c.799G>C (p.Gly267Arg) c.950+441G>C (n.950+441G>C) | |
| 5 | g.179833668G>T | CA362452627 | SQSTM1 | c.1051G>T (p.Gly351Cys) c.799G>T (p.Gly267Cys) c.950+441G>T (n.950+441G>T) | |
| 5 | g.179833669G>A | CA362452630 | SQSTM1 | c.1052G>A (p.Gly351Asp) c.800G>A (p.Gly267Asp) c.950+442G>A (n.950+442G>A) | |
| 5 | g.179833669G>C | CA362452633 | SQSTM1 | c.1052G>C (p.Gly351Ala) c.800G>C (p.Gly267Ala) c.950+442G>C (n.950+442G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179833669G= | CA1604334107 | SQSTM1 | c.1052G= (p.Gly351=) c.800G= (p.Gly267=) c.950+442G= (n.950+442G=) | |
| 5 | g.179833669G>T | CA362452636 | SQSTM1 | c.1052G>T (p.Gly351Val) c.800G>T (p.Gly267Val) c.950+442G>T (n.950+442G>T) | |
| 5 | g.179833670T>A | CA448069379 | SQSTM1 | c.1053T>A (p.Gly351=) c.801T>A (p.Gly267=) c.950+443T>A (n.950+443T>A) | |
| 5 | g.179833670T>C | CA448069380 | SQSTM1 | c.1053T>C (p.Gly351=) c.801T>C (p.Gly267=) c.950+443T>C (n.950+443T>C) | |
| 5 | g.179833670T>G | CA448069381 | SQSTM1 | c.1053T>G (p.Gly351=) c.801T>G (p.Gly267=) c.950+443T>G (n.950+443T>G) | |
| 5 | g.179833671G>A | CA362452638 | SQSTM1 | c.1054G>A (p.Glu352Lys) c.802G>A (p.Glu268Lys) c.950+444G>A (n.950+444G>A) | |
| 5 | g.179833671G>C | CA362452641 | SQSTM1 | c.1054G>C (p.Glu352Gln) c.802G>C (p.Glu268Gln) c.950+444G>C (n.950+444G>C) | ClinVar dbSNP |
| 5 | g.179833671G= | CA1604334108 | SQSTM1 | c.1054G= (p.Glu352=) c.802G= (p.Glu268=) c.950+444G= (n.950+444G=) | |
| 5 | g.179833671G>T | CA133109718 | SQSTM1 | c.1054G>T (p.Glu352Ter) c.802G>T (p.Glu268Ter) c.950+444G>T (n.950+444G>T) | ClinVar dbSNP gnomAD v4 |
| 5 | g.179833672A>C | CA362452643 | SQSTM1 | c.1055A>C (p.Glu352Ala) c.803A>C (p.Glu268Ala) c.950+445A>C (n.950+445A>C) | |
| 5 | g.179833672A>G | CA362452648 | SQSTM1 | c.1055A>G (p.Glu352Gly) c.803A>G (p.Glu268Gly) c.950+445A>G (n.950+445A>G) | |
| 5 | g.179833672A>T | CA362452646 | SQSTM1 | c.1055A>T (p.Glu352Val) c.803A>T (p.Glu268Val) c.950+445A>T (n.950+445A>T) | ClinVar |
| 5 | g.179833673A>C | CA362452650 | SQSTM1 | c.1056A>C (p.Glu352Asp) c.804A>C (p.Glu268Asp) c.950+446A>C (n.950+446A>C) | gnomAD v4 |
| 5 | g.179833673A>G | CA448069401 | SQSTM1 | c.1056A>G (p.Glu352=) c.804A>G (p.Glu268=) c.950+446A>G (n.950+446A>G) | |
| 5 | g.179833673A>T | CA362452652 | SQSTM1 | c.1056A>T (p.Glu352Asp) c.804A>T (p.Glu268Asp) c.950+446A>T (n.950+446A>T) | |
| 5 | g.179833674C>A | CA362452656 | SQSTM1 | c.1057C>A (p.Leu353Ile) c.805C>A (p.Leu269Ile) c.950+447C>A (n.950+447C>A) | |
| 5 | g.179833674C>G | CA362452657 | SQSTM1 | c.1057C>G (p.Leu353Val) c.805C>G (p.Leu269Val) c.950+447C>G (n.950+447C>G) | |
| 5 | g.179833674C>T | CA362452660 | SQSTM1 | c.1057C>T (p.Leu353Phe) c.805C>T (p.Leu269Phe) c.950+447C>T (n.950+447C>T) | gnomAD v4 |
| 5 | g.179833675T>A | CA362452664 | SQSTM1 | c.1058T>A (p.Leu353His) c.806T>A (p.Leu269His) c.950+448T>A (n.950+448T>A) | |
| 5 | g.179833675T>C | CA362452666 | SQSTM1 | c.1058T>C (p.Leu353Pro) c.806T>C (p.Leu269Pro) c.950+448T>C (n.950+448T>C) | ClinVar gnomAD v4 |
| 5 | g.179833675T>G | CA362452668 | SQSTM1 | c.1058T>G (p.Leu353Arg) c.806T>G (p.Leu269Arg) c.950+448T>G (n.950+448T>G) | |
| 5 | g.179833675_179833676delinsTC | CA1604334109 | SQSTM1 | c.1058_1059delinsTC (p.Leu353=) c.806_807delinsTC (p.Leu269=) c.950+448_950+449delinsTC (n.950+448_950+449delinsTC) | |
| 5 | g.179833676C>A | CA448069420 | SQSTM1 | c.1059C>A (p.Leu353=) c.807C>A (p.Leu269=) c.950+449C>A (n.950+449C>A) | |
| 5 | g.179833676C= | CA1604334111 | SQSTM1 | c.1059C= (p.Leu353=) c.807C= (p.Leu269=) c.950+449C= (n.950+449C=) | |
| 5 | g.179833676C>G | CA448069423 | SQSTM1 | c.1059C>G (p.Leu353=) c.807C>G (p.Leu269=) c.950+449C>G (n.950+449C>G) | |
| 5 | g.179833676C>T | CA448069424 | SQSTM1 | c.1059C>T (p.Leu353=) c.807C>T (p.Leu269=) c.950+449C>T (n.950+449C>T) | dbSNP gnomAD v4 |
| 5 | g.179833677del | CA1085049772 | SQSTM1 | c.1060del (p.Gln354SerfsTer24) c.808del (p.Gln270SerfsTer24) c.950+450del (n.950+450del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.179833676_179833678delinsCCA | CA1604334110 | SQSTM1 | c.1059_1061delinsCCA (p.Leu353=) c.807_809delinsCCA (p.Leu269=) c.950+449_950+451delinsCCA (n.950+449_950+451delinsCCA) | |
| 5 | g.179833677C>A | CA362452672 | SQSTM1 | c.1060C>A (p.Gln354Lys) c.808C>A (p.Gln270Lys) c.950+450C>A (n.950+450C>A) | ClinVar gnomAD v4 |
| 5 | g.179833677C>G | CA362452674 | SQSTM1 | c.1060C>G (p.Gln354Glu) c.808C>G (p.Gln270Glu) c.950+450C>G (n.950+450C>G) | |
| 5 | g.179833677C>T | CA362452677 | SQSTM1 | c.1060C>T (p.Gln354Ter) c.808C>T (p.Gln270Ter) c.950+450C>T (n.950+450C>T) | |
| 5 | g.179833677_179833678del | CA3600790 | SQSTM1 | c.1060_1061del (p.Gln354ValfsTer?) c.808_809del (p.Gln270ValfsTer?) c.950+450_950+451del (n.950+450_950+451del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.179833678A>C | CA362452690 | SQSTM1 | c.1061A>C (p.Gln354Pro) c.809A>C (p.Gln270Pro) c.950+451A>C (n.950+451A>C) | |
| 5 | g.179833678A>G | CA362452691 | SQSTM1 | c.1061A>G (p.Gln354Arg) c.809A>G (p.Gln270Arg) c.950+451A>G (n.950+451A>G) | gnomAD v4 |
| 5 | g.179833678A>T | CA362452688 | SQSTM1 | c.1061A>T (p.Gln354Leu) c.809A>T (p.Gln270Leu) c.950+451A>T (n.950+451A>T) | |
| 5 | g.179833679G>A | CA448069437 | SQSTM1 | c.1062G>A (p.Gln354=) c.810G>A (p.Gln270=) c.950+452G>A (n.950+452G>A) | |
| 5 | g.179833679G>C | CA133109719 | SQSTM1 | c.1062G>C (p.Gln354His) c.810G>C (p.Gln270His) c.950+452G>C (n.950+452G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.179833679G= | CA1604334112 | SQSTM1 | c.1062G= (p.Gln354=) c.810G= (p.Gln270=) c.950+452G= (n.950+452G=) | |
| 5 | g.179833679G>T | CA362452695 | SQSTM1 | c.1062G>T (p.Gln354His) c.810G>T (p.Gln270His) c.950+452G>T (n.950+452G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179833680T>A | CA362452699 | SQSTM1 | c.1063T>A (p.Ser355Thr) c.811T>A (p.Ser271Thr) c.950+453T>A (n.950+453T>A) | |
| 5 | g.179833680T>C | CA362452701 | SQSTM1 | c.1063T>C (p.Ser355Pro) c.811T>C (p.Ser271Pro) c.950+453T>C (n.950+453T>C) | |
| 5 | g.179833680T>G | CA362452703 | SQSTM1 | c.1063T>G (p.Ser355Ala) c.811T>G (p.Ser271Ala) c.950+453T>G (n.950+453T>G) | |
| 5 | g.179833681C>A | CA362452710 | SQSTM1 | c.1064C>A (p.Ser355Tyr) c.812C>A (p.Ser271Tyr) c.950+454C>A (n.950+454C>A) | |
| 5 | g.179833681C= | CA1604334113 | SQSTM1 | c.1064C= (p.Ser355=) c.812C= (p.Ser271=) c.950+454C= (n.950+454C=) | |
| 5 | g.179833681C>G | CA362452706 | SQSTM1 | c.1064C>G (p.Ser355Cys) c.812C>G (p.Ser271Cys) c.950+454C>G (n.950+454C>G) | |
| 5 | g.179833681C>T | CA362452709 | SQSTM1 | c.1064C>T (p.Ser355Phe) c.812C>T (p.Ser271Phe) c.950+454C>T (n.950+454C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.179833682C>A | CA448069465 | SQSTM1 | c.1065C>A (p.Ser355=) c.813C>A (p.Ser271=) c.950+455C>A (n.950+455C>A) | |
| 5 | g.179833682C>G | CA448069467 | SQSTM1 | c.1065C>G (p.Ser355=) c.813C>G (p.Ser271=) c.950+455C>G (n.950+455C>G) | |
| 5 | g.179833682C>T | CA448069471 | SQSTM1 | c.1065C>T (p.Ser355=) c.813C>T (p.Ser271=) c.950+455C>T (n.950+455C>T) | |
| 5 | g.179833683C>A | CA362452712 | SQSTM1 | c.1066C>A (p.Leu356Ile) c.814C>A (p.Leu272Ile) c.950+456C>A (n.950+456C>A) | |
| 5 | g.179833683C>G | CA362452715 | SQSTM1 | c.1066C>G (p.Leu356Val) c.814C>G (p.Leu272Val) c.950+456C>G (n.950+456C>G) | |
| 5 | g.179833683C>T | CA448069475 | SQSTM1 | c.1066C>T (p.Leu356=) c.814C>T (p.Leu272=) c.950+456C>T (n.950+456C>T) | gnomAD v4 |
| 5 | g.179833684T>A | CA362452716 | SQSTM1 | c.1067T>A (p.Leu356Gln) c.815T>A (p.Leu272Gln) c.950+457T>A (n.950+457T>A) | |
| 5 | g.179833684T>C | CA362452719 | SQSTM1 | c.1067T>C (p.Leu356Pro) c.815T>C (p.Leu272Pro) c.950+457T>C (n.950+457T>C) | |
| 5 | g.179833684T>G | CA362452720 | SQSTM1 | c.1067T>G (p.Leu356Arg) c.815T>G (p.Leu272Arg) c.950+457T>G (n.950+457T>G) | |
| 5 | g.179833685A>C | CA448069495 | SQSTM1 | c.1068A>C (p.Leu356=) c.816A>C (p.Leu272=) c.950+458A>C (n.950+458A>C) | |
| 5 | g.179833685A>G | CA448069498 | SQSTM1 | c.1068A>G (p.Leu356=) c.816A>G (p.Leu272=) c.950+458A>G (n.950+458A>G) | |
| 5 | g.179833685A>T | CA448069505 | SQSTM1 | c.1068A>T (p.Leu356=) c.816A>T (p.Leu272=) c.950+458A>T (n.950+458A>T) | |
| 5 | g.179833686C>A | CA362452723 | SQSTM1 | c.1069C>A (p.Gln357Lys) c.817C>A (p.Gln273Lys) c.950+459C>A (n.950+459C>A) | |
| 5 | g.179833686C>G | CA362452727 | SQSTM1 | c.1069C>G (p.Gln357Glu) c.817C>G (p.Gln273Glu) c.950+459C>G (n.950+459C>G) | ClinVar dbSNP |
| 5 | g.179833686C>T | CA362452724 | SQSTM1 | c.1069C>T (p.Gln357Ter) c.817C>T (p.Gln273Ter) c.950+459C>T (n.950+459C>T) | |
| 5 | g.179833687A= | CA1604334114 | SQSTM1 | c.1070A= (p.Gln357=) c.818A= (p.Gln273=) c.950+460A= (n.950+460A=) | |
| 5 | g.179833687A>C | CA362452729 | SQSTM1 | c.1070A>C (p.Gln357Pro) c.818A>C (p.Gln273Pro) c.950+460A>C (n.950+460A>C) | |
| 5 | g.179833687A>G | CA362452734 | SQSTM1 | c.1070A>G (p.Gln357Arg) c.818A>G (p.Gln273Arg) c.950+460A>G (n.950+460A>G) | ClinVar gnomAD v4 |
| 5 | g.179833687A>T | CA362452732 | SQSTM1 | c.1070A>T (p.Gln357Leu) c.818A>T (p.Gln273Leu) c.950+460A>T (n.950+460A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.179833688G>A | CA133109720 | SQSTM1 | c.1071G>A (p.Gln357=) c.819G>A (p.Gln273=) c.950+461G>A (n.950+461G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179833688G>C | CA362452736 | SQSTM1 | c.1071G>C (p.Gln357His) c.819G>C (p.Gln273His) c.950+461G>C (n.950+461G>C) | |
| 5 | g.179833688G= | CA1604334115 | SQSTM1 | c.1071G= (p.Gln357=) c.819G= (p.Gln273=) c.950+461G= (n.950+461G=) | |
| 5 | g.179833688G>T | CA362452739 | SQSTM1 | c.1071G>T (p.Gln357His) c.819G>T (p.Gln273His) c.950+461G>T (n.950+461G>T) | ClinVar dbSNP |
| 5 | g.179833689A>C | CA362452743 | SQSTM1 | c.1072A>C (p.Met358Leu) c.820A>C (p.Met274Leu) c.950+462A>C (n.950+462A>C) | |
| 5 | g.179833689A>G | CA362452745 | SQSTM1 | c.1072A>G (p.Met358Val) c.820A>G (p.Met274Val) c.950+462A>G (n.950+462A>G) | ClinVar dbSNP |
| 5 | g.179833689A>T | CA362452747 | SQSTM1 | c.1072A>T (p.Met358Leu) c.820A>T (p.Met274Leu) c.950+462A>T (n.950+462A>T) | |
| 5 | g.179833690T>A | CA362452750 | SQSTM1 | c.1073T>A (p.Met358Lys) c.821T>A (p.Met274Lys) c.950+463T>A (n.950+463T>A) | |
| 5 | g.179833690T>C | CA362452752 | SQSTM1 | c.1073T>C (p.Met358Thr) c.821T>C (p.Met274Thr) c.950+463T>C (n.950+463T>C) | |
| 5 | g.179833690T>G | CA362452754 | SQSTM1 | c.1073T>G (p.Met358Arg) c.821T>G (p.Met274Arg) c.950+463T>G (n.950+463T>G) | |
| 5 | g.179833691G>A | CA133109721 | SQSTM1 | c.1074G>A (p.Met358Ile) c.822G>A (p.Met274Ile) c.950+464G>A (n.950+464G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.179833691G>C | CA362452758 | SQSTM1 | c.1074G>C (p.Met358Ile) c.822G>C (p.Met274Ile) c.950+464G>C (n.950+464G>C) | |
| 5 | g.179833691G= | CA1604334116 | SQSTM1 | c.1074G= (p.Met358=) c.822G= (p.Met274=) c.950+464G= (n.950+464G=) | |
| 5 | g.179833691G>T | CA362452760 | SQSTM1 | c.1074G>T (p.Met358Ile) c.822G>T (p.Met274Ile) c.950+464G>T (n.950+464G>T) | |
| 5 | g.179833692C>A | CA362452765 | SQSTM1 | c.1075C>A (p.Pro359Thr) c.823C>A (p.Pro275Thr) c.950+465C>A (n.950+465C>A) | |
| 5 | g.179833692C= | CA1604334117 | SQSTM1 | c.1075C= (p.Pro359=) c.823C= (p.Pro275=) c.950+465C= (n.950+465C=) | |
| 5 | g.179833692C>G | CA362452763 | SQSTM1 | c.1075C>G (p.Pro359Ala) c.823C>G (p.Pro275Ala) c.950+465C>G (n.950+465C>G) | |
| 5 | g.179833692C>T | CA3600791 | SQSTM1 | c.1075C>T (p.Pro359Ser) c.823C>T (p.Pro275Ser) c.950+465C>T (n.950+465C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |