| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.179833562G>A | CA2578507773 | SQSTM1 | c.970-25G>A (n.970-25G>A) c.718-25G>A (n.718-25G>A) c.950+335G>A (n.950+335G>A) | |
| 5 | g.179833562G= | CA1604334045 | SQSTM1 | c.970-25G= (n.970-25G=) c.718-25G= (n.718-25G=) c.950+335G= (n.950+335G=) | |
| 5 | g.179833563T>A | CA3600764 | SQSTM1 | c.970-24T>A (n.970-24T>A) c.718-24T>A (n.718-24T>A) c.950+336T>A (n.950+336T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179833563T>C | CA3600763 | SQSTM1 | c.970-24T>C (n.970-24T>C) c.718-24T>C (n.718-24T>C) c.950+336T>C (n.950+336T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179833563T= | CA1604334046 | SQSTM1 | c.970-24T= (n.970-24T=) c.718-24T= (n.718-24T=) c.950+336T= (n.950+336T=) | |
| 5 | g.179833563dup | CA1085049727 | SQSTM1 | c.970-24dup (n.970-24dup) c.718-24dup (n.718-24dup) c.950+336dup (n.950+336dup) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.179833564G>A | CA133109665 | SQSTM1 | c.970-23G>A (n.970-23G>A) c.718-23G>A (n.718-23G>A) c.950+337G>A (n.950+337G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.179833564G>C | CA3600765 | SQSTM1 | c.970-23G>C (n.970-23G>C) c.718-23G>C (n.718-23G>C) c.950+337G>C (n.950+337G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179833564G= | CA1604334047 | SQSTM1 | c.970-23G= (n.970-23G=) c.718-23G= (n.718-23G=) c.950+337G= (n.950+337G=) | |
| 5 | g.179833565C>T | CA2578507775 | SQSTM1 | c.970-22C>T (n.970-22C>T) c.718-22C>T (n.718-22C>T) c.950+338C>T (n.950+338C>T) | gnomAD v4 |
| 5 | g.179833566T>C | CA2676907450 | SQSTM1 | c.970-21T>C (n.970-21T>C) c.718-21T>C (n.718-21T>C) c.950+339T>C (n.950+339T>C) | gnomAD v4 |
| 5 | g.179833567C= | CA1604334048 | SQSTM1 | c.970-20C= (n.970-20C=) c.718-20C= (n.718-20C=) c.950+340C= (n.950+340C=) | |
| 5 | g.179833567C>T | CA3600766 | SQSTM1 | c.970-20C>T (n.970-20C>T) c.718-20C>T (n.718-20C>T) c.950+340C>T (n.950+340C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179833568A>G | CA2676907451 | SQSTM1 | c.970-19A>G (n.970-19A>G) c.718-19A>G (n.718-19A>G) c.950+341A>G (n.950+341A>G) | gnomAD v4 |
| 5 | g.179833569T>C | CA1085049731 | SQSTM1 | c.970-18T>C (n.970-18T>C) c.718-18T>C (n.718-18T>C) c.950+342T>C (n.950+342T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.179833569T>G | CA565353433 | SQSTM1 | c.970-18T>G (n.970-18T>G) c.718-18T>G (n.718-18T>G) c.950+342T>G (n.950+342T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.179833569T= | CA1604334049 | SQSTM1 | c.970-18T= (n.970-18T=) c.718-18T= (n.718-18T=) c.950+342T= (n.950+342T=) | |
| 5 | g.179833571dup | CA565353434 | SQSTM1 | c.970-16dup (n.970-16dup) c.718-16dup (n.718-16dup) c.950+344dup (n.950+344dup) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.179833571G>A | CA1604334051 | SQSTM1 | c.970-16G>A (n.970-16G>A) c.718-16G>A (n.718-16G>A) c.950+344G>A (n.950+344G>A) | dbSNP gnomAD v4 |
| 5 | g.179833571G= | CA1604334050 | SQSTM1 | c.970-16G= (n.970-16G=) c.718-16G= (n.718-16G=) c.950+344G= (n.950+344G=) | |
| 5 | g.179833572T>G | CA2578507778 | SQSTM1 | c.970-15T>G (n.970-15T>G) c.718-15T>G (n.718-15T>G) c.950+345T>G (n.950+345T>G) | gnomAD v4 |
| 5 | g.179833572dup | CA3600767 | SQSTM1 | c.970-15dup (n.970-15dup) c.718-15dup (n.718-15dup) c.950+345dup (n.950+345dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.179833573G>A | CA3600768 | SQSTM1 | c.970-14G>A (n.970-14G>A) c.718-14G>A (n.718-14G>A) c.950+346G>A (n.950+346G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179833573G= | CA1604334052 | SQSTM1 | c.970-14G= (n.970-14G=) c.718-14G= (n.718-14G=) c.950+346G= (n.950+346G=) | |
| 5 | g.179833574_179833575del | CA2676907453 | SQSTM1 | c.970-13_970-12del (n.970-13_970-12del) c.718-13_718-12del (n.718-13_718-12del) c.950+347_950+348del (n.950+347_950+348del) | gnomAD v4 |
| 5 | g.179833574A= | CA1604334053 | SQSTM1 | c.970-13A= (n.970-13A=) c.718-13A= (n.718-13A=) c.950+347A= (n.950+347A=) | |
| 5 | g.179833574A>G | CA133109675 | SQSTM1 | c.970-13A>G (n.970-13A>G) c.718-13A>G (n.718-13A>G) c.950+347A>G (n.950+347A>G) | ClinVar dbSNP gnomAD v4 |
| 5 | g.179833575G>C | CA1604334055 | SQSTM1 | c.970-12G>C (n.970-12G>C) c.718-12G>C (n.718-12G>C) c.950+348G>C (n.950+348G>C) | dbSNP gnomAD v4 |
| 5 | g.179833575G= | CA1604334054 | SQSTM1 | c.970-12G= (n.970-12G=) c.718-12G= (n.718-12G=) c.950+348G= (n.950+348G=) | |
| 5 | g.179833576T>G | CA1604334057 | SQSTM1 | c.970-11T>G (n.970-11T>G) c.718-11T>G (n.718-11T>G) c.950+349T>G (n.950+349T>G) | dbSNP |
| 5 | g.179833576T= | CA1604334056 | SQSTM1 | c.970-11T= (n.970-11T=) c.718-11T= (n.718-11T=) c.950+349T= (n.950+349T=) | |
| 5 | g.179833579T>C | CA3600769 | SQSTM1 | c.970-8T>C (n.970-8T>C) c.718-8T>C (n.718-8T>C) c.950+352T>C (n.950+352T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179833579T= | CA1604334058 | SQSTM1 | c.970-8T= (n.970-8T=) c.718-8T= (n.718-8T=) c.950+352T= (n.950+352T=) | |
| 5 | g.179833580G>A | CA3600770 | SQSTM1 | c.970-7G>A (n.970-7G>A) c.718-7G>A (n.718-7G>A) c.950+353G>A (n.950+353G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.179833580G= | CA1604334059 | SQSTM1 | c.970-7G= (n.970-7G=) c.718-7G= (n.718-7G=) c.950+353G= (n.950+353G=) | |
| 5 | g.179833583C>A | CA2502987989 | SQSTM1 | c.970-4C>A (n.970-4C>A) c.718-4C>A (n.718-4C>A) c.950+356C>A (n.950+356C>A) | |
| 5 | g.179833583C= | CA1604334060 | SQSTM1 | c.970-4C= (n.970-4C=) c.718-4C= (n.718-4C=) c.950+356C= (n.950+356C=) | |
| 5 | g.179833583C>T | CA1604334061 | SQSTM1 | c.970-4C>T (n.970-4C>T) c.718-4C>T (n.718-4C>T) c.950+356C>T (n.950+356C>T) | ClinVar dbSNP |
| 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.179833584C= | CA1604334062 | SQSTM1 | c.970-3C= (n.970-3C=) c.718-3C= (n.718-3C=) c.950+357C= (n.950+357C=) | |
| 5 | g.179833584C>G | CA133109681 | SQSTM1 | c.970-3C>G (n.970-3C>G) c.718-3C>G (n.718-3C>G) c.950+357C>G (n.950+357C>G) | dbSNP |
| 5 | g.179833584C>T | CA565353435 | SQSTM1 | c.970-3C>T (n.970-3C>T) c.718-3C>T (n.718-3C>T) c.950+357C>T (n.950+357C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.179833585A>C | CA362452293 | SQSTM1 | c.970-2A>C (n.970-2A>C) c.718-2A>C (n.718-2A>C) c.950+358A>C (n.950+358A>C) | |
| 5 | g.179833585A>G | CA362452294 | SQSTM1 | c.970-2A>G (n.970-2A>G) c.718-2A>G (n.718-2A>G) c.950+358A>G (n.950+358A>G) | ClinVar dbSNP |
| 5 | g.179833585A>T | CA362452296 | SQSTM1 | c.970-2A>T (n.970-2A>T) c.718-2A>T (n.718-2A>T) c.950+358A>T (n.950+358A>T) | |
| 5 | g.179833585_179833586delinsAG | CA1604334063 | SQSTM1 | c.970-2_970-1delinsAG (n.970-2_970-1delinsAG) c.718-2_718-1delinsAG (n.718-2_718-1delinsAG) c.950+358_950+359delinsAG (n.950+358_950+359delinsAG) | |
| 5 | g.179833586G>A | CA362452297 | SQSTM1 | c.970-1G>A (n.970-1G>A) c.718-1G>A (n.718-1G>A) c.950+359G>A (n.950+359G>A) | COSMIC |
| 5 | g.179833586G>C | CA133109685 | SQSTM1 | c.970-1G>C (n.970-1G>C) c.718-1G>C (n.718-1G>C) c.950+359G>C (n.950+359G>C) | dbSNP gnomAD v4 |
| 5 | g.179833586G= | CA1604334064 | SQSTM1 | c.970-1G= (n.970-1G=) c.718-1G= (n.718-1G=) c.950+359G= (n.950+359G=) | |
| 5 | g.179833586G>T | CA362452300 | SQSTM1 | c.970-1G>T (n.970-1G>T) c.718-1G>T (n.718-1G>T) c.950+359G>T (n.950+359G>T) | |
| 5 | g.179833587del | CA3600771 | SQSTM1 | c.970del c.718del c.950+360del (n.950+360del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179833587G>A | CA362452302 | SQSTM1 | c.970G>A (p.Glu324Lys) c.718G>A (p.Glu240Lys) c.950+360G>A (n.950+360G>A) | ClinVar dbSNP |
| 5 | g.179833587G>C | CA362452303 | SQSTM1 | c.970G>C (p.Glu324Gln) c.718G>C (p.Glu240Gln) c.950+360G>C (n.950+360G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.179833587G= | CA1604334065 | SQSTM1 | c.970G= (p.Glu324=) c.718G= (p.Glu240=) c.950+360G= (n.950+360G=) | |
| 5 | g.179833587G>T | CA362452305 | SQSTM1 | c.970G>T (p.Glu324Ter) c.718G>T (p.Glu240Ter) c.950+360G>T (n.950+360G>T) | gnomAD v4 |
| 5 | g.179833588A>C | CA362452310 | SQSTM1 | c.971A>C (p.Glu324Ala) c.719A>C (p.Glu240Ala) c.950+361A>C (n.950+361A>C) | |
| 5 | g.179833588A>G | CA362452307 | SQSTM1 | c.971A>G (p.Glu324Gly) c.719A>G (p.Glu240Gly) c.950+361A>G (n.950+361A>G) | |
| 5 | g.179833588A>T | CA362452309 | SQSTM1 | c.971A>T (p.Glu324Val) c.719A>T (p.Glu240Val) c.950+361A>T (n.950+361A>T) | |
| 5 | g.179833589dup | CA1604334066 | SQSTM1 | c.972dup (p.Gln325ThrfsTer6) c.720dup (p.Gln241ThrfsTer6) c.950+362dup (n.950+362dup) | dbSNP |
| 5 | g.179833589A>C | CA362452312 | SQSTM1 | c.972A>C (p.Glu324Asp) c.720A>C (p.Glu240Asp) c.950+362A>C (n.950+362A>C) | |
| 5 | g.179833589A>G | CA448068625 | SQSTM1 | c.972A>G (p.Glu324=) c.720A>G (p.Glu240=) c.950+362A>G (n.950+362A>G) | gnomAD v4 |
| 5 | g.179833589A>T | CA362452313 | SQSTM1 | c.972A>T (p.Glu324Asp) c.720A>T (p.Glu240Asp) c.950+362A>T (n.950+362A>T) | |
| 5 | g.179833590C>A | CA362452315 | SQSTM1 | c.973C>A (p.Gln325Lys) c.721C>A (p.Gln241Lys) c.950+363C>A (n.950+363C>A) | |
| 5 | g.179833590C= | CA1604334067 | SQSTM1 | c.973C= (p.Gln325=) c.721C= (p.Gln241=) c.950+363C= (n.950+363C=) | |
| 5 | g.179833590C>G | CA362452317 | SQSTM1 | c.973C>G (p.Gln325Glu) c.721C>G (p.Gln241Glu) c.950+363C>G (n.950+363C>G) | dbSNP COSMIC |
| 5 | g.179833590C>T | CA362452318 | SQSTM1 | c.973C>T (p.Gln325Ter) c.721C>T (p.Gln241Ter) c.950+363C>T (n.950+363C>T) | ClinVar |
| 5 | g.179833591A>C | CA362452319 | SQSTM1 | c.974A>C (p.Gln325Pro) c.722A>C (p.Gln241Pro) c.950+364A>C (n.950+364A>C) | |
| 5 | g.179833591A>G | CA362452321 | SQSTM1 | c.974A>G (p.Gln325Arg) c.722A>G (p.Gln241Arg) c.950+364A>G (n.950+364A>G) | |
| 5 | g.179833591A>T | CA362452322 | SQSTM1 | c.974A>T (p.Gln325Leu) c.722A>T (p.Gln241Leu) c.950+364A>T (n.950+364A>T) | |
| 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=) |