Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.113399293G>A | CA6280923 | ANKK1 | c.1324G>A (p.Gly442Ser) c.1357G>A (p.Gly453Ser) c.1327G>A (p.Gly443Ser) c.1135G>A (p.Gly379Ser) c.1354G>A (p.Gly452Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.113399293G>C | CA6280921 | ANKK1 | c.1324G>C (p.Gly442Arg) c.1357G>C (p.Gly453Arg) c.1327G>C (p.Gly443Arg) c.1135G>C (p.Gly379Arg) c.1354G>C (p.Gly452Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.113399293G= | CA2001152011 | ANKK1 | c.1324G= (p.Gly442=) c.1357G= (p.Gly453=) c.1327G= (p.Gly443=) c.1135G= (p.Gly379=) c.1354G= (p.Gly452=) | |
11 | g.113399293G>T | CA6280922 | ANKK1 | c.1324G>T (p.Gly442Cys) c.1357G>T (p.Gly453Cys) c.1327G>T (p.Gly443Cys) c.1135G>T (p.Gly379Cys) c.1354G>T (p.Gly452Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.113399294del | CA2616032798 | ANKK1 | c.1325del (p.Gly442AlafsTer?) c.1358del (p.Gly453AlafsTer?) c.1328del (p.Gly443AlafsTer?) c.1136del (p.Gly379AlafsTer?) c.1355del (p.Gly452AlafsTer?) | gnomAD v4 |
11 | g.113399294G>A | CA6280924 | ANKK1 | c.1325G>A (p.Gly442Asp) c.1358G>A (p.Gly453Asp) c.1328G>A (p.Gly443Asp) c.1136G>A (p.Gly379Asp) c.1355G>A (p.Gly452Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.113399294G>C | CA382644800 | ANKK1 | c.1325G>C (p.Gly442Ala) c.1358G>C (p.Gly453Ala) c.1328G>C (p.Gly443Ala) c.1136G>C (p.Gly379Ala) c.1355G>C (p.Gly452Ala) | |
11 | g.113399294G= | CA2001152016 | ANKK1 | c.1325G= (p.Gly442=) c.1358G= (p.Gly453=) c.1328G= (p.Gly443=) c.1136G= (p.Gly379=) c.1355G= (p.Gly452=) | |
11 | g.113399294G>T | CA382644802 | ANKK1 | c.1325G>T (p.Gly442Val) c.1358G>T (p.Gly453Val) c.1328G>T (p.Gly443Val) c.1136G>T (p.Gly379Val) c.1355G>T (p.Gly452Val) | gnomAD v4 |
11 | g.113399295C>A | CA477042473 | ANKK1 | c.1326C>A (p.Gly442=) c.1359C>A (p.Gly453=) c.1329C>A (p.Gly443=) c.1137C>A (p.Gly379=) c.1356C>A (p.Gly452=) | |
11 | g.113399295C= | CA2001152019 | ANKK1 | c.1326C= (p.Gly442=) c.1359C= (p.Gly453=) c.1329C= (p.Gly443=) c.1137C= (p.Gly379=) c.1356C= (p.Gly452=) | |
11 | g.113399295C>G | CA477042475 | ANKK1 | c.1326C>G (p.Gly442=) c.1359C>G (p.Gly453=) c.1329C>G (p.Gly443=) c.1137C>G (p.Gly379=) c.1356C>G (p.Gly452=) | |
11 | g.113399295C>T | CA477042474 | ANKK1 | c.1326C>T (p.Gly442=) c.1359C>T (p.Gly453=) c.1329C>T (p.Gly443=) c.1137C>T (p.Gly379=) c.1356C>T (p.Gly452=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.113399296A>C | CA382644804 | ANKK1 | c.1327A>C (p.Thr443Pro) c.1360A>C (p.Thr454Pro) c.1330A>C (p.Thr444Pro) c.1138A>C (p.Thr380Pro) c.1357A>C (p.Thr453Pro) | |
11 | g.113399296A>G | CA382644806 | ANKK1 | c.1327A>G (p.Thr443Ala) c.1360A>G (p.Thr454Ala) c.1330A>G (p.Thr444Ala) c.1138A>G (p.Thr380Ala) c.1357A>G (p.Thr453Ala) | gnomAD v4 |
11 | g.113399296A>T | CA382644807 | ANKK1 | c.1327A>T (p.Thr443Ser) c.1360A>T (p.Thr454Ser) c.1330A>T (p.Thr444Ser) c.1138A>T (p.Thr380Ser) c.1357A>T (p.Thr453Ser) | |
11 | g.113399297C>A | CA382644809 | ANKK1 | c.1328C>A (p.Thr443Asn) c.1361C>A (p.Thr454Asn) c.1331C>A (p.Thr444Asn) c.1139C>A (p.Thr380Asn) c.1358C>A (p.Thr453Asn) | |
11 | g.113399297C= | CA2001152021 | ANKK1 | c.1328C= (p.Thr443=) c.1361C= (p.Thr454=) c.1331C= (p.Thr444=) c.1139C= (p.Thr380=) c.1358C= (p.Thr453=) | |
11 | g.113399297C>G | CA382644811 | ANKK1 | c.1328C>G (p.Thr443Ser) c.1361C>G (p.Thr454Ser) c.1331C>G (p.Thr444Ser) c.1139C>G (p.Thr380Ser) c.1358C>G (p.Thr453Ser) | |
11 | g.113399297C>T | CA382644812 | ANKK1 | c.1328C>T (p.Thr443Ile) c.1361C>T (p.Thr454Ile) c.1331C>T (p.Thr444Ile) c.1139C>T (p.Thr380Ile) c.1358C>T (p.Thr453Ile) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.113399298T>A | CA477042479 | ANKK1 | c.1329T>A (p.Thr443=) c.1362T>A (p.Thr454=) c.1332T>A (p.Thr444=) c.1140T>A (p.Thr380=) c.1359T>A (p.Thr453=) | |
11 | g.113399298T>C | CA477042480 | ANKK1 | c.1329T>C (p.Thr443=) c.1362T>C (p.Thr454=) c.1332T>C (p.Thr444=) c.1140T>C (p.Thr380=) c.1359T>C (p.Thr453=) | |
11 | g.113399298T>G | CA477042482 | ANKK1 | c.1329T>G (p.Thr443=) c.1362T>G (p.Thr454=) c.1332T>G (p.Thr444=) c.1140T>G (p.Thr380=) c.1359T>G (p.Thr453=) | |
11 | g.113399299G>A | CA382644815 | ANKK1 | c.1330G>A (p.Ala444Thr) c.1363G>A (p.Ala455Thr) c.1333G>A (p.Ala445Thr) c.1141G>A (p.Ala381Thr) c.1360G>A (p.Ala454Thr) | gnomAD v4 |
11 | g.113399299G>C | CA382644818 | ANKK1 | c.1330G>C (p.Ala444Pro) c.1363G>C (p.Ala455Pro) c.1333G>C (p.Ala445Pro) c.1141G>C (p.Ala381Pro) c.1360G>C (p.Ala454Pro) | |
11 | g.113399299G>T | CA382644817 | ANKK1 | c.1330G>T (p.Ala444Ser) c.1363G>T (p.Ala455Ser) c.1333G>T (p.Ala445Ser) c.1141G>T (p.Ala381Ser) c.1360G>T (p.Ala454Ser) | |
11 | g.113399300C>A | CA382644821 | ANKK1 | c.1331C>A (p.Ala444Glu) c.1364C>A (p.Ala455Glu) c.1334C>A (p.Ala445Glu) c.1142C>A (p.Ala381Glu) c.1361C>A (p.Ala454Glu) | gnomAD v4 |
11 | g.113399300C= | CA2001152024 | ANKK1 | c.1331C= (p.Ala444=) c.1364C= (p.Ala455=) c.1334C= (p.Ala445=) c.1142C= (p.Ala381=) c.1361C= (p.Ala454=) | |
11 | g.113399300C>G | CA382644823 | ANKK1 | c.1331C>G (p.Ala444Gly) c.1364C>G (p.Ala455Gly) c.1334C>G (p.Ala445Gly) c.1142C>G (p.Ala381Gly) c.1361C>G (p.Ala454Gly) | dbSNP gnomAD v4 |
11 | g.113399300C>T | CA228615194 | ANKK1 | c.1331C>T (p.Ala444Val) c.1364C>T (p.Ala455Val) c.1334C>T (p.Ala445Val) c.1142C>T (p.Ala381Val) c.1361C>T (p.Ala454Val) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.113399301G>A | CA6280925 | ANKK1 | c.1332G>A (p.Ala444=) c.1365G>A (p.Ala455=) c.1335G>A (p.Ala445=) c.1143G>A (p.Ala381=) c.1362G>A (p.Ala454=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.113399301G>C | CA477042485 | ANKK1 | c.1332G>C (p.Ala444=) c.1365G>C (p.Ala455=) c.1335G>C (p.Ala445=) c.1143G>C (p.Ala381=) c.1362G>C (p.Ala454=) | |
11 | g.113399301G= | CA2001152027 | ANKK1 | c.1332G= (p.Ala444=) c.1365G= (p.Ala455=) c.1335G= (p.Ala445=) c.1143G= (p.Ala381=) c.1362G= (p.Ala454=) | |
11 | g.113399301G>T | CA477042486 | ANKK1 | c.1332G>T (p.Ala444=) c.1365G>T (p.Ala455=) c.1335G>T (p.Ala445=) c.1143G>T (p.Ala381=) c.1362G>T (p.Ala454=) | gnomAD v4 |
11 | g.113399302C>A | CA382644827 | ANKK1 | c.1333C>A (p.Arg445Ser) c.1366C>A (p.Arg456Ser) c.1336C>A (p.Arg446Ser) c.1144C>A (p.Arg382Ser) c.1363C>A (p.Arg455Ser) | gnomAD v4 |
11 | g.113399302C= | CA2001152033 | ANKK1 | c.1333C= (p.Arg445=) c.1366C= (p.Arg456=) c.1336C= (p.Arg446=) c.1144C= (p.Arg382=) c.1363C= (p.Arg455=) | |
11 | g.113399302C>G | CA382644829 | ANKK1 | c.1333C>G (p.Arg445Gly) c.1366C>G (p.Arg456Gly) c.1336C>G (p.Arg446Gly) c.1144C>G (p.Arg382Gly) c.1363C>G (p.Arg455Gly) | |
11 | g.113399302C>T | CA6280926 | ANKK1 | c.1333C>T (p.Arg445Cys) c.1366C>T (p.Arg456Cys) c.1336C>T (p.Arg446Cys) c.1144C>T (p.Arg382Cys) c.1363C>T (p.Arg455Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.113399303G>A | CA6280927 | ANKK1 | c.1334G>A (p.Arg445His) c.1367G>A (p.Arg456His) c.1337G>A (p.Arg446His) c.1145G>A (p.Arg382His) c.1364G>A (p.Arg455His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.113399303G>C | CA382644832 | ANKK1 | c.1334G>C (p.Arg445Pro) c.1367G>C (p.Arg456Pro) c.1337G>C (p.Arg446Pro) c.1145G>C (p.Arg382Pro) c.1364G>C (p.Arg455Pro) | |
11 | g.113399303G= | CA2001152036 | ANKK1 | c.1334G= (p.Arg445=) c.1367G= (p.Arg456=) c.1337G= (p.Arg446=) c.1145G= (p.Arg382=) c.1364G= (p.Arg455=) | |
11 | g.113399303G>T | CA382644834 | ANKK1 | c.1334G>T (p.Arg445Leu) c.1367G>T (p.Arg456Leu) c.1337G>T (p.Arg446Leu) c.1145G>T (p.Arg382Leu) c.1364G>T (p.Arg455Leu) | gnomAD v4 |
11 | g.113399304C>A | CA477042493 | ANKK1 | c.1335C>A (p.Arg445=) c.1368C>A (p.Arg456=) c.1338C>A (p.Arg446=) c.1146C>A (p.Arg382=) c.1365C>A (p.Arg455=) | |
11 | g.113399304C>G | CA477042490 | ANKK1 | c.1335C>G (p.Arg445=) c.1368C>G (p.Arg456=) c.1338C>G (p.Arg446=) c.1146C>G (p.Arg382=) c.1365C>G (p.Arg455=) | |
11 | g.113399304C>T | CA477042489 | ANKK1 | c.1335C>T (p.Arg445=) c.1368C>T (p.Arg456=) c.1338C>T (p.Arg446=) c.1146C>T (p.Arg382=) c.1365C>T (p.Arg455=) | |
11 | g.113399305C>A | CA382644836 | ANKK1 | c.1336C>A (p.Leu446Met) c.1369C>A (p.Leu457Met) c.1339C>A (p.Leu447Met) c.1147C>A (p.Leu383Met) c.1366C>A (p.Leu456Met) | |
11 | g.113399305C>G | CA382644839 | ANKK1 | c.1336C>G (p.Leu446Val) c.1369C>G (p.Leu457Val) c.1339C>G (p.Leu447Val) c.1147C>G (p.Leu383Val) c.1366C>G (p.Leu456Val) | |
11 | g.113399305C>T | CA477042496 | ANKK1 | c.1336C>T (p.Leu446=) c.1369C>T (p.Leu457=) c.1339C>T (p.Leu447=) c.1147C>T (p.Leu383=) c.1366C>T (p.Leu456=) | |
11 | g.113399306T>A | CA382644841 | ANKK1 | c.1337T>A (p.Leu446Gln) c.1370T>A (p.Leu457Gln) c.1340T>A (p.Leu447Gln) c.1148T>A (p.Leu383Gln) c.1367T>A (p.Leu456Gln) | gnomAD v4 |
11 | g.113399306T>C | CA382644842 | ANKK1 | c.1337T>C (p.Leu446Pro) c.1370T>C (p.Leu457Pro) c.1340T>C (p.Leu447Pro) c.1148T>C (p.Leu383Pro) c.1367T>C (p.Leu456Pro) |