Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.17005444_17005451del | CA2643675890 | ATP13A2 | c.211_218del (p.Trp71AlafsTer25) c.230_237del (p.Val77GlyfsTer20) c.188_195del c.137_144del c.-636_-629del (n.-636_-629del) | gnomAD v4 |
1 | g.17005450dup | CA521449971 | ATP13A2 | c.217dup (p.Val73GlyfsTer26) c.236dup (p.Ala80CysfsTer20) c.194dup c.143dup c.-630dup (n.-630dup) | ClinVar gnomAD v2 |
1 | g.17005450del | CA521449970 | ATP13A2 | c.217del (p.Val73CysfsTer20) c.236del (p.Gly79ValfsTer?) c.194del c.143del c.-630del (n.-630del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.17005450C>A | CA637730 | ATP13A2 | c.212G>T (p.Trp71Leu) c.231G>T (p.Val77=) c.189G>T c.138G>T c.-635G>T (n.-635G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17005450C= | CA1143938925 | ATP13A2 | c.212G= (p.Trp71=) c.231G= (p.Val77=) c.189G= c.138G= c.-635G= (n.-635G=) | |
1 | g.17005450C>G | CA637731 | ATP13A2 | c.212G>C (p.Trp71Ser) c.231G>C (p.Val77=) c.189G>C c.138G>C c.-635G>C (n.-635G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17005450C>T | CA338264425 | ATP13A2 | c.212G>A (p.Trp71Ter) c.231G>A (p.Val77=) c.189G>A c.138G>A c.-635G>A (n.-635G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17005451A>C | CA338264428 | ATP13A2 | c.211T>G (p.Trp71Gly) c.230T>G (p.Val77Gly) c.188T>G c.137T>G c.-636T>G (n.-636T>G) | |
1 | g.17005451A>G | CA338264430 | ATP13A2 | c.211T>C (p.Trp71Arg) c.230T>C (p.Val77Ala) c.188T>C c.137T>C c.-636T>C (n.-636T>C) | gnomAD v4 |
1 | g.17005451A>T | CA338264432 | ATP13A2 | c.211T>A (p.Trp71Arg) c.230T>A (p.Val77Glu) c.188T>A c.137T>A c.-636T>A (n.-636T>A) | |
1 | g.17005452C>A | CA416075185 | ATP13A2 | c.210G>T (p.Leu70=) c.229G>T (p.Val77Leu) c.187G>T c.136G>T c.-637G>T (n.-637G>T) | |
1 | g.17005452C>G | CA416075186 | ATP13A2 | c.210G>C (p.Leu70=) c.229G>C (p.Val77Leu) c.187G>C c.136G>C c.-637G>C (n.-637G>C) | |
1 | g.17005452C>T | CA416075187 | ATP13A2 | c.210G>A (p.Leu70=) c.229G>A (p.Val77Met) c.187G>A c.136G>A c.-637G>A (n.-637G>A) | gnomAD v4 |
1 | g.17005453A= | CA1156068465 | ATP13A2 | c.209T= (p.Leu70=) c.228T= (p.Pro76=) c.186T= c.135T= c.-638T= (n.-638T=) | |
1 | g.17005453A>C | CA338264433 | ATP13A2 | c.209T>G (p.Leu70Arg) c.228T>G (p.Pro76=) c.186T>G c.135T>G c.-638T>G (n.-638T>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.17005453A>G | CA338264436 | ATP13A2 | c.209T>C (p.Leu70Pro) c.228T>C (p.Pro76=) c.186T>C c.135T>C c.-638T>C (n.-638T>C) | gnomAD v4 |
1 | g.17005453A>T | CA338264437 | ATP13A2 | c.209T>A (p.Leu70Gln) c.228T>A (p.Pro76=) c.186T>A c.135T>A c.-638T>A (n.-638T>A) | gnomAD v4 COSMIC COSMIC |
1 | g.17005454G>A | CA637732 | ATP13A2 | c.208C>T (p.Leu70=) c.227C>T (p.Pro76Leu) c.185C>T c.134C>T c.-639C>T (n.-639C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17005454G>C | CA338264439 | ATP13A2 | c.208C>G (p.Leu70Val) c.227C>G (p.Pro76Arg) c.185C>G c.134C>G c.-639C>G (n.-639C>G) | |
1 | g.17005454G= | CA1156068466 | ATP13A2 | c.208C= (p.Leu70=) c.227C= (p.Pro76=) c.185C= c.134C= c.-639C= (n.-639C=) | |
1 | g.17005454G>T | CA338264441 | ATP13A2 | c.208C>A (p.Leu70Met) c.227C>A (p.Pro76His) c.185C>A c.134C>A c.-639C>A (n.-639C>A) | |
1 | g.17005455G>A | CA416075194 | ATP13A2 | c.207C>T (p.Pro69=) c.226C>T (p.Pro76Ser) c.184C>T c.133C>T c.-640C>T (n.-640C>T) | dbSNP |
1 | g.17005455G>C | CA416075196 | ATP13A2 | c.207C>G (p.Pro69=) c.226C>G (p.Pro76Ala) c.184C>G c.133C>G c.-640C>G (n.-640C>G) | gnomAD v4 |
1 | g.17005455G= | CA1156068468 | ATP13A2 | c.207C= (p.Pro69=) c.226C= (p.Pro76=) c.184C= c.133C= c.-640C= (n.-640C=) | |
1 | g.17005455G>T | CA416075198 | ATP13A2 | c.207C>A (p.Pro69=) c.226C>A (p.Pro76Thr) c.184C>A c.133C>A c.-640C>A (n.-640C>A) | |
1 | g.17005456G>A | CA338264461 | ATP13A2 | c.206C>T (p.Pro69Leu) c.225C>T (p.Ala75=) c.183C>T c.132C>T c.-641C>T (n.-641C>T) | |
1 | g.17005456G>C | CA338264462 | ATP13A2 | c.206C>G (p.Pro69Arg) c.225C>G (p.Ala75=) c.183C>G c.132C>G c.-641C>G (n.-641C>G) | |
1 | g.17005456G>T | CA338264463 | ATP13A2 | c.206C>A (p.Pro69His) c.225C>A (p.Ala75=) c.183C>A c.132C>A c.-641C>A (n.-641C>A) | |
1 | g.17005457G>A | CA338264465 | ATP13A2 | c.205C>T (p.Pro69Ser) c.224C>T (p.Ala75Val) c.182C>T c.131C>T c.-642C>T (n.-642C>T) | |
1 | g.17005457G>C | CA338264474 | ATP13A2 | c.205C>G (p.Pro69Ala) c.224C>G (p.Ala75Gly) c.182C>G c.131C>G c.-642C>G (n.-642C>G) | |
1 | g.17005457G>T | CA338264477 | ATP13A2 | c.205C>A (p.Pro69Thr) c.224C>A (p.Ala75Asp) c.182C>A c.131C>A c.-642C>A (n.-642C>A) | |
1 | g.17005458C>A | CA338264481 | ATP13A2 | c.204G>T (p.Lys68Asn) c.223G>T (p.Ala75Ser) c.181G>T c.130G>T c.-643G>T (n.-643G>T) | COSMIC COSMIC |
1 | g.17005458C>G | CA338264480 | ATP13A2 | c.204G>C (p.Lys68Asn) c.223G>C (p.Ala75Pro) c.181G>C c.130G>C c.-643G>C (n.-643G>C) | |
1 | g.17005458C>T | CA416075203 | ATP13A2 | c.204G>A (p.Lys68=) c.223G>A (p.Ala75Thr) c.181G>A c.130G>A c.-643G>A (n.-643G>A) | |
1 | g.17005459T>A | CA338264482 | ATP13A2 | c.203A>T (p.Lys68Met) c.222A>T (p.Glu74Asp) c.180A>T c.129A>T c.-644A>T (n.-644A>T) | |
1 | g.17005459T>C | CA338264483 | ATP13A2 | c.203A>G (p.Lys68Arg) c.222A>G (p.Glu74=) c.180A>G c.129A>G c.-644A>G (n.-644A>G) | |
1 | g.17005459T>G | CA338264485 | ATP13A2 | c.203A>C (p.Lys68Thr) c.222A>C (p.Glu74Asp) c.180A>C c.129A>C c.-644A>C (n.-644A>C) | |
1 | g.17005460T>A | CA338264488 | ATP13A2 | c.202A>T (p.Lys68Ter) c.221A>T (p.Glu74Val) c.179A>T c.128A>T c.-645A>T (n.-645A>T) | |
1 | g.17005460T>C | CA637733 | ATP13A2 | c.202A>G (p.Lys68Glu) c.221A>G (p.Glu74Gly) c.179A>G c.128A>G c.-645A>G (n.-645A>G) | dbSNP ExAC |
1 | g.17005460T>G | CA338264492 | ATP13A2 | c.202A>C (p.Lys68Gln) c.221A>C (p.Glu74Ala) c.179A>C c.128A>C c.-645A>C (n.-645A>C) | COSMIC COSMIC |
1 | g.17005460T= | CA1156068469 | ATP13A2 | c.202A= (p.Lys68=) c.221A= (p.Glu74=) c.179A= c.128A= c.-645A= (n.-645A=) | |
1 | g.17005461C>A | CA338264497 | ATP13A2 | c.201G>T (p.Trp67Cys) c.220G>T (p.Glu74Ter) c.178G>T c.127G>T c.-646G>T (n.-646G>T) | |
1 | g.17005461C>G | CA338264494 | ATP13A2 | c.201G>C (p.Trp67Cys) c.220G>C (p.Glu74Gln) c.178G>C c.127G>C c.-646G>C (n.-646G>C) | |
1 | g.17005461C>T | CA338264496 | ATP13A2 | c.201G>A (p.Trp67Ter) c.220G>A (p.Glu74Lys) c.178G>A c.127G>A c.-646G>A (n.-646G>A) | |
1 | g.17005462C>A | CA338264500 | ATP13A2 | c.200G>T (p.Trp67Leu) c.219G>T (p.Leu73Phe) c.177G>T c.126G>T c.-647G>T (n.-647G>T) | |
1 | g.17005462C>G | CA338264503 | ATP13A2 | c.200G>C (p.Trp67Ser) c.219G>C (p.Leu73Phe) c.177G>C c.126G>C c.-647G>C (n.-647G>C) | |
1 | g.17005462C>T | CA338264511 | ATP13A2 | c.200G>A (p.Trp67Ter) c.219G>A (p.Leu73=) c.177G>A c.126G>A c.-647G>A (n.-647G>A) | COSMIC COSMIC |
1 | g.17005463A>C | CA338264516 | ATP13A2 | c.199T>G (p.Trp67Gly) c.218T>G (p.Leu73Trp) c.176T>G c.125T>G c.-648T>G (n.-648T>G) | |
1 | g.17005463A>G | CA338264518 | ATP13A2 | c.199T>C (p.Trp67Arg) c.218T>C (p.Leu73Ser) c.176T>C c.125T>C c.-648T>C (n.-648T>C) | |
1 | g.17005463A>T | CA338264519 | ATP13A2 | c.199T>A (p.Trp67Arg) c.218T>A (p.Leu73Ter) c.176T>A c.125T>A c.-648T>A (n.-648T>A) |