Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.214978805T>A | CA350459432 | ABCA12 | c.4976A>T (p.Glu1659Val) c.4022A>T (p.Glu1341Val) n.5276A>T c.4985A>T (p.Glu1662Val) n.5474A>T | |
2 | g.214978805T>C | CA350459435 | ABCA12 | c.4976A>G (p.Glu1659Gly) c.4022A>G (p.Glu1341Gly) n.5276A>G c.4985A>G (p.Glu1662Gly) n.5474A>G | |
2 | g.214978805T>G | CA350459437 | ABCA12 | c.4976A>C (p.Glu1659Ala) c.4022A>C (p.Glu1341Ala) n.5276A>C c.4985A>C (p.Glu1662Ala) n.5474A>C | |
2 | g.214978806C>A | CA350459439 | ABCA12 | c.4975G>T (p.Glu1659Ter) c.4021G>T (p.Glu1341Ter) n.5275G>T c.4984G>T (p.Glu1662Ter) n.5473G>T | |
2 | g.214978806C>G | CA350459441 | ABCA12 | c.4975G>C (p.Glu1659Gln) c.4021G>C (p.Glu1341Gln) n.5275G>C c.4984G>C (p.Glu1662Gln) n.5473G>C | |
2 | g.214978806C>T | CA350459443 | ABCA12 | c.4975G>A (p.Glu1659Lys) c.4021G>A (p.Glu1341Lys) n.5275G>A c.4984G>A (p.Glu1662Lys) n.5473G>A | |
2 | g.214978807C>A | CA350459445 | ABCA12 | c.4974G>T (p.Glu1658Asp) c.4020G>T (p.Glu1340Asp) n.5274G>T c.4983G>T (p.Glu1661Asp) n.5472G>T | |
2 | g.214978807C>G | CA350459447 | ABCA12 | c.4974G>C (p.Glu1658Asp) c.4020G>C (p.Glu1340Asp) n.5274G>C c.4983G>C (p.Glu1661Asp) n.5472G>C | |
2 | g.214978807C>T | CA431146930 | ABCA12 | c.4974G>A (p.Glu1658=) c.4020G>A (p.Glu1340=) n.5274G>A c.4983G>A (p.Glu1661=) n.5472G>A | |
2 | g.214978808T>A | CA350459451 | ABCA12 | c.4973A>T (p.Glu1658Val) c.4019A>T (p.Glu1340Val) n.5273A>T c.4982A>T (p.Glu1661Val) n.5471A>T | |
2 | g.214978808T>C | CA350459453 | ABCA12 | c.4973A>G (p.Glu1658Gly) c.4019A>G (p.Glu1340Gly) n.5273A>G c.4982A>G (p.Glu1661Gly) n.5471A>G | |
2 | g.214978808T>G | CA350459455 | ABCA12 | c.4973A>C (p.Glu1658Ala) c.4019A>C (p.Glu1340Ala) n.5273A>C c.4982A>C (p.Glu1661Ala) n.5471A>C | |
2 | g.214978809C>A | CA350459460 | ABCA12 | c.4972G>T (p.Glu1658Ter) c.4018G>T (p.Glu1340Ter) n.5272G>T c.4981G>T (p.Glu1661Ter) n.5470G>T | |
2 | g.214978809C= | CA1327160306 | ABCA12 | c.4972G= (p.Glu1658=) c.4018G= (p.Glu1340=) n.5272G= c.4981G= (p.Glu1661=) n.5470G= | |
2 | g.214978809C>G | CA350459462 | ABCA12 | c.4972G>C (p.Glu1658Gln) c.4018G>C (p.Glu1340Gln) n.5272G>C c.4981G>C (p.Glu1661Gln) n.5470G>C | dbSNP |
2 | g.214978809C>T | CA350459458 | ABCA12 | c.4972G>A (p.Glu1658Lys) c.4018G>A (p.Glu1340Lys) n.5272G>A c.4981G>A (p.Glu1661Lys) n.5470G>A | dbSNP |
2 | g.214978810C>A | CA431146942 | ABCA12 | c.4971G>T (p.Val1657=) c.4017G>T (p.Val1339=) n.5271G>T c.4980G>T (p.Val1660=) n.5469G>T | |
2 | g.214978810C= | CA1327160307 | ABCA12 | c.4971G= (p.Val1657=) c.4017G= (p.Val1339=) n.5271G= c.4980G= (p.Val1660=) n.5469G= | |
2 | g.214978810C>G | CA431146944 | ABCA12 | c.4971G>C (p.Val1657=) c.4017G>C (p.Val1339=) n.5271G>C c.4980G>C (p.Val1660=) n.5469G>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.214978810C>T | CA431146945 | ABCA12 | c.4971G>A (p.Val1657=) c.4017G>A (p.Val1339=) n.5271G>A c.4980G>A (p.Val1660=) n.5469G>A | |
2 | g.214978811A>C | CA350459465 | ABCA12 | c.4970T>G (p.Val1657Gly) c.4016T>G (p.Val1339Gly) n.5270T>G c.4979T>G (p.Val1660Gly) n.5468T>G | |
2 | g.214978811A>G | CA350459467 | ABCA12 | c.4970T>C (p.Val1657Ala) c.4016T>C (p.Val1339Ala) n.5270T>C c.4979T>C (p.Val1660Ala) n.5468T>C | |
2 | g.214978811A>T | CA350459469 | ABCA12 | c.4970T>A (p.Val1657Glu) c.4016T>A (p.Val1339Glu) n.5270T>A c.4979T>A (p.Val1660Glu) n.5468T>A | |
2 | g.214978812C>A | CA350459471 | ABCA12 | c.4969G>T (p.Val1657Leu) c.4015G>T (p.Val1339Leu) n.5269G>T c.4978G>T (p.Val1660Leu) n.5467G>T | |
2 | g.214978812C= | CA1327160308 | ABCA12 | c.4969G= (p.Val1657=) c.4015G= (p.Val1339=) n.5269G= c.4978G= (p.Val1660=) n.5467G= | |
2 | g.214978812C>G | CA350459473 | ABCA12 | c.4969G>C (p.Val1657Leu) c.4015G>C (p.Val1339Leu) n.5269G>C c.4978G>C (p.Val1660Leu) n.5467G>C | |
2 | g.214978812C>T | CA2091339 | ABCA12 | c.4969G>A (p.Val1657Met) c.4015G>A (p.Val1339Met) n.5269G>A c.4978G>A (p.Val1660Met) n.5467G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214978813G>A | CA2091340 | ABCA12 | c.4968C>T (p.Thr1656=) c.4014C>T (p.Thr1338=) n.5268C>T c.4977C>T (p.Thr1659=) n.5466C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.214978813G>C | CA431146955 | ABCA12 | c.4968C>G (p.Thr1656=) c.4014C>G (p.Thr1338=) n.5268C>G c.4977C>G (p.Thr1659=) n.5466C>G | |
2 | g.214978813G= | CA1327160309 | ABCA12 | c.4968C= (p.Thr1656=) c.4014C= (p.Thr1338=) n.5268C= c.4977C= (p.Thr1659=) n.5466C= | |
2 | g.214978813G>T | CA431146964 | ABCA12 | c.4968C>A (p.Thr1656=) c.4014C>A (p.Thr1338=) n.5268C>A c.4977C>A (p.Thr1659=) n.5466C>A | |
2 | g.214978814G>A | CA2091341 | ABCA12 | c.4967C>T (p.Thr1656Ile) c.4013C>T (p.Thr1338Ile) n.5267C>T c.4976C>T (p.Thr1659Ile) n.5465C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214978814G>C | CA350459477 | ABCA12 | c.4967C>G (p.Thr1656Ser) c.4013C>G (p.Thr1338Ser) n.5267C>G c.4976C>G (p.Thr1659Ser) n.5465C>G | |
2 | g.214978814G= | CA1327160310 | ABCA12 | c.4967C= (p.Thr1656=) c.4013C= (p.Thr1338=) n.5267C= c.4976C= (p.Thr1659=) n.5465C= | |
2 | g.214978814G>T | CA350459480 | ABCA12 | c.4967C>A (p.Thr1656Asn) c.4013C>A (p.Thr1338Asn) n.5267C>A c.4976C>A (p.Thr1659Asn) n.5465C>A | |
2 | g.214978815T>A | CA350459483 | ABCA12 | c.4966A>T (p.Thr1656Ser) c.4012A>T (p.Thr1338Ser) n.5266A>T c.4975A>T (p.Thr1659Ser) n.5464A>T | |
2 | g.214978815T>C | CA350459486 | ABCA12 | c.4966A>G (p.Thr1656Ala) c.4012A>G (p.Thr1338Ala) n.5266A>G c.4975A>G (p.Thr1659Ala) n.5464A>G | |
2 | g.214978815T>G | CA350459488 | ABCA12 | c.4966A>C (p.Thr1656Pro) c.4012A>C (p.Thr1338Pro) n.5266A>C c.4975A>C (p.Thr1659Pro) n.5464A>C | |
2 | g.214978816G>A | CA431146968 | ABCA12 | c.4965C>T (p.Thr1655=) c.4011C>T (p.Thr1337=) n.5265C>T c.4974C>T (p.Thr1658=) n.5463C>T | gnomAD v4 |
2 | g.214978816G>C | CA431146971 | ABCA12 | c.4965C>G (p.Thr1655=) c.4011C>G (p.Thr1337=) n.5265C>G c.4974C>G (p.Thr1658=) n.5463C>G | |
2 | g.214978816G>T | CA431146978 | ABCA12 | c.4965C>A (p.Thr1655=) c.4011C>A (p.Thr1337=) n.5265C>A c.4974C>A (p.Thr1658=) n.5463C>A | |
2 | g.214978817G>A | CA350459491 | ABCA12 | c.4964C>T (p.Thr1655Ile) c.4010C>T (p.Thr1337Ile) n.5264C>T c.4973C>T (p.Thr1658Ile) n.5462C>T | |
2 | g.214978817G>C | CA350459495 | ABCA12 | c.4964C>G (p.Thr1655Ser) c.4010C>G (p.Thr1337Ser) n.5264C>G c.4973C>G (p.Thr1658Ser) n.5462C>G | |
2 | g.214978817G>T | CA350459493 | ABCA12 | c.4964C>A (p.Thr1655Asn) c.4010C>A (p.Thr1337Asn) n.5264C>A c.4973C>A (p.Thr1658Asn) n.5462C>A | |
2 | g.214978818T>A | CA350459498 | ABCA12 | c.4963A>T (p.Thr1655Ser) c.4009A>T (p.Thr1337Ser) n.5263A>T c.4972A>T (p.Thr1658Ser) n.5461A>T | |
2 | g.214978818T>C | CA350459500 | ABCA12 | c.4963A>G (p.Thr1655Ala) c.4009A>G (p.Thr1337Ala) n.5263A>G c.4972A>G (p.Thr1658Ala) n.5461A>G | |
2 | g.214978818T>G | CA350459502 | ABCA12 | c.4963A>C (p.Thr1655Pro) c.4009A>C (p.Thr1337Pro) n.5263A>C c.4972A>C (p.Thr1658Pro) n.5461A>C | |
2 | g.214978819A>C | CA350459504 | ABCA12 | c.4962T>G (p.Asp1654Glu) c.4008T>G (p.Asp1336Glu) n.5262T>G c.4971T>G (p.Asp1657Glu) n.5460T>G | |
2 | g.214978819A>G | CA431146993 | ABCA12 | c.4962T>C (p.Asp1654=) c.4008T>C (p.Asp1336=) n.5262T>C c.4971T>C (p.Asp1657=) n.5460T>C | |
2 | g.214978819A>T | CA350459506 | ABCA12 | c.4962T>A (p.Asp1654Glu) c.4008T>A (p.Asp1336Glu) n.5262T>A c.4971T>A (p.Asp1657Glu) n.5460T>A | |
2 | g.214978820T>A | CA350459509 | ABCA12 | c.4961A>T (p.Asp1654Val) c.4007A>T (p.Asp1336Val) n.5261A>T c.4970A>T (p.Asp1657Val) n.5459A>T | |
2 | g.214978820T>C | CA350459511 | ABCA12 | c.4961A>G (p.Asp1654Gly) c.4007A>G (p.Asp1336Gly) n.5261A>G c.4970A>G (p.Asp1657Gly) n.5459A>G | gnomAD v4 |
2 | g.214978820T>G | CA350459513 | ABCA12 | c.4961A>C (p.Asp1654Ala) c.4007A>C (p.Asp1336Ala) n.5261A>C c.4970A>C (p.Asp1657Ala) n.5459A>C | |
2 | g.214978821C>A | CA350459516 | ABCA12 | c.4960G>T (p.Asp1654Tyr) c.4006G>T (p.Asp1336Tyr) n.5260G>T c.4969G>T (p.Asp1657Tyr) n.5458G>T | |
2 | g.214978821C>G | CA350459518 | ABCA12 | c.4960G>C (p.Asp1654His) c.4006G>C (p.Asp1336His) n.5260G>C c.4969G>C (p.Asp1657His) n.5458G>C | |
2 | g.214978821C>T | CA350459520 | ABCA12 | c.4960G>A (p.Asp1654Asn) c.4006G>A (p.Asp1336Asn) n.5260G>A c.4969G>A (p.Asp1657Asn) n.5458G>A | |
2 | g.214978822T>A | CA431147006 | ABCA12 | c.4959A>T (p.Ser1653=) c.4005A>T (p.Ser1335=) n.5259A>T c.4968A>T (p.Ser1656=) n.5457A>T | |
2 | g.214978822T>C | CA431147008 | ABCA12 | c.4959A>G (p.Ser1653=) c.4005A>G (p.Ser1335=) n.5259A>G c.4968A>G (p.Ser1656=) n.5457A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214978822T>G | CA431147010 | ABCA12 | c.4959A>C (p.Ser1653=) c.4005A>C (p.Ser1335=) n.5259A>C c.4968A>C (p.Ser1656=) n.5457A>C | |
2 | g.214978822T= | CA1327160311 | ABCA12 | c.4959A= (p.Ser1653=) c.4005A= (p.Ser1335=) n.5259A= c.4968A= (p.Ser1656=) n.5457A= | |
2 | g.214978823G>A | CA350459525 | ABCA12 | c.4958C>T (p.Ser1653Leu) c.4004C>T (p.Ser1335Leu) n.5258C>T c.4967C>T (p.Ser1656Leu) n.5456C>T | |
2 | g.214978823G>C | CA350459527 | ABCA12 | c.4958C>G (p.Ser1653Ter) c.4004C>G (p.Ser1335Ter) n.5258C>G c.4967C>G (p.Ser1656Ter) n.5456C>G | |
2 | g.214978823G>T | CA350459523 | ABCA12 | c.4958C>A (p.Ser1653Ter) c.4004C>A (p.Ser1335Ter) n.5258C>A c.4967C>A (p.Ser1656Ter) n.5456C>A | |
2 | g.214978824A>C | CA350459528 | ABCA12 | c.4957T>G (p.Ser1653Ala) c.4003T>G (p.Ser1335Ala) n.5257T>G c.4966T>G (p.Ser1656Ala) n.5455T>G | |
2 | g.214978824A>G | CA350459532 | ABCA12 | c.4957T>C (p.Ser1653Pro) c.4003T>C (p.Ser1335Pro) n.5257T>C c.4966T>C (p.Ser1656Pro) n.5455T>C | |
2 | g.214978824A>T | CA350459534 | ABCA12 | c.4957T>A (p.Ser1653Thr) c.4003T>A (p.Ser1335Thr) n.5257T>A c.4966T>A (p.Ser1656Thr) n.5455T>A | |
2 | g.214978825A>C | CA350459537 | ABCA12 | c.4956T>G (p.Ile1652Met) c.4002T>G (p.Ile1334Met) n.5256T>G c.4965T>G (p.Ile1655Met) n.5454T>G | |
2 | g.214978825A>G | CA431147025 | ABCA12 | c.4956T>C (p.Ile1652=) c.4002T>C (p.Ile1334=) n.5256T>C c.4965T>C (p.Ile1655=) n.5454T>C | |
2 | g.214978825A>T | CA431147023 | ABCA12 | c.4956T>A (p.Ile1652=) c.4002T>A (p.Ile1334=) n.5256T>A c.4965T>A (p.Ile1655=) n.5454T>A | |
2 | g.214978826A>C | CA350459539 | ABCA12 | c.4955T>G (p.Ile1652Ser) c.4001T>G (p.Ile1334Ser) n.5255T>G c.4964T>G (p.Ile1655Ser) n.5453T>G | |
2 | g.214978826A>G | CA350459540 | ABCA12 | c.4955T>C (p.Ile1652Thr) c.4001T>C (p.Ile1334Thr) n.5255T>C c.4964T>C (p.Ile1655Thr) n.5453T>C | gnomAD v4 |
2 | g.214978826A>T | CA350459542 | ABCA12 | c.4955T>A (p.Ile1652Asn) c.4001T>A (p.Ile1334Asn) n.5255T>A c.4964T>A (p.Ile1655Asn) n.5453T>A | |
2 | g.214978827T>A | CA350459545 | ABCA12 | c.4954A>T (p.Ile1652Phe) c.4000A>T (p.Ile1334Phe) n.5254A>T c.4963A>T (p.Ile1655Phe) n.5452A>T | |
2 | g.214978827T>C | CA350459547 | ABCA12 | c.4954A>G (p.Ile1652Val) c.4000A>G (p.Ile1334Val) n.5254A>G c.4963A>G (p.Ile1655Val) n.5452A>G | |
2 | g.214978827T>G | CA350459549 | ABCA12 | c.4954A>C (p.Ile1652Leu) c.4000A>C (p.Ile1334Leu) n.5254A>C c.4963A>C (p.Ile1655Leu) n.5452A>C | |
2 | g.214978828G>A | CA431147041 | ABCA12 | c.4953C>T (p.Gly1651=) c.3999C>T (p.Gly1333=) n.5253C>T c.4962C>T (p.Gly1654=) n.5451C>T | |
2 | g.214978828G>C | CA431147044 | ABCA12 | c.4953C>G (p.Gly1651=) c.3999C>G (p.Gly1333=) n.5253C>G c.4962C>G (p.Gly1654=) n.5451C>G | |
2 | g.214978828G>T | CA431147047 | ABCA12 | c.4953C>A (p.Gly1651=) c.3999C>A (p.Gly1333=) n.5253C>A c.4962C>A (p.Gly1654=) n.5451C>A | |
2 | g.214978829C>A | CA350459550 | ABCA12 | c.4952G>T (p.Gly1651Val) c.3998G>T (p.Gly1333Val) n.5252G>T c.4961G>T (p.Gly1654Val) n.5450G>T | |
2 | g.214978829C= | CA1327160312 | ABCA12 | c.4952G= (p.Gly1651=) c.3998G= (p.Gly1333=) n.5252G= c.4961G= (p.Gly1654=) n.5450G= | |
2 | g.214978829C>G | CA350459553 | ABCA12 | c.4952G>C (p.Gly1651Ala) c.3998G>C (p.Gly1333Ala) n.5252G>C c.4961G>C (p.Gly1654Ala) n.5450G>C | |
2 | g.214978829C>T | CA350459555 | ABCA12 | c.4952G>A (p.Gly1651Asp) c.3998G>A (p.Gly1333Asp) n.5252G>A c.4961G>A (p.Gly1654Asp) n.5450G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.214978830C>A | CA350459561 | ABCA12 | c.4951G>T (p.Gly1651Cys) c.3997G>T (p.Gly1333Cys) n.5251G>T c.4960G>T (p.Gly1654Cys) n.5449G>T | |
2 | g.214978830C= | CA1327160313 | ABCA12 | c.4951G= (p.Gly1651=) c.3997G= (p.Gly1333=) n.5251G= c.4960G= (p.Gly1654=) n.5449G= | |
2 | g.214978830C>G | CA350459559 | ABCA12 | c.4951G>C (p.Gly1651Arg) c.3997G>C (p.Gly1333Arg) n.5251G>C c.4960G>C (p.Gly1654Arg) n.5449G>C | |
2 | g.214978830C>T | CA252476 | ABCA12 | c.4951G>A (p.Gly1651Ser) c.3997G>A (p.Gly1333Ser) n.5251G>A c.4960G>A (p.Gly1654Ser) n.5449G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214978831G>A | CA2091342 | ABCA12 | c.4950C>T (p.Tyr1650=) c.3996C>T (p.Tyr1332=) n.5250C>T c.4959C>T (p.Tyr1653=) n.5448C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.214978831G>C | CA350459564 | ABCA12 | c.4950C>G (p.Tyr1650Ter) c.3996C>G (p.Tyr1332Ter) n.5250C>G c.4959C>G (p.Tyr1653Ter) n.5448C>G | |
2 | g.214978831G= | CA1327160314 | ABCA12 | c.4950C= (p.Tyr1650=) c.3996C= (p.Tyr1332=) n.5250C= c.4959C= (p.Tyr1653=) n.5448C= | |
2 | g.214978831G>T | CA350459566 | ABCA12 | c.4950C>A (p.Tyr1650Ter) c.3996C>A (p.Tyr1332Ter) n.5250C>A c.4959C>A (p.Tyr1653Ter) n.5448C>A | |
2 | g.214978832T>A | CA350459569 | ABCA12 | c.4949A>T (p.Tyr1650Phe) c.3995A>T (p.Tyr1332Phe) n.5249A>T c.4958A>T (p.Tyr1653Phe) n.5447A>T | |
2 | g.214978832T>C | CA2091343 | ABCA12 | c.4949A>G (p.Tyr1650Cys) c.3995A>G (p.Tyr1332Cys) n.5249A>G c.4958A>G (p.Tyr1653Cys) n.5447A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214978832T>G | CA350459572 | ABCA12 | c.4949A>C (p.Tyr1650Ser) c.3995A>C (p.Tyr1332Ser) n.5249A>C c.4958A>C (p.Tyr1653Ser) n.5447A>C | |
2 | g.214978832T= | CA1327160315 | ABCA12 | c.4949A= (p.Tyr1650=) c.3995A= (p.Tyr1332=) n.5249A= c.4958A= (p.Tyr1653=) n.5447A= | |
2 | g.214978833A>C | CA350459575 | ABCA12 | c.4948T>G (p.Tyr1650Asp) c.3994T>G (p.Tyr1332Asp) n.5248T>G c.4957T>G (p.Tyr1653Asp) n.5446T>G | |
2 | g.214978833A>G | CA350459577 | ABCA12 | c.4948T>C (p.Tyr1650His) c.3994T>C (p.Tyr1332His) n.5248T>C c.4957T>C (p.Tyr1653His) n.5446T>C | |
2 | g.214978833A>T | CA350459580 | ABCA12 | c.4948T>A (p.Tyr1650Asn) c.3994T>A (p.Tyr1332Asn) n.5248T>A c.4957T>A (p.Tyr1653Asn) n.5446T>A | |
2 | g.214978834G>A | CA431147079 | ABCA12 | c.4947C>T (p.Cys1649=) c.3993C>T (p.Cys1331=) n.5247C>T c.4956C>T (p.Cys1652=) n.5445C>T | ClinVar gnomAD v4 |
2 | g.214978834G>C | CA350459582 | ABCA12 | c.4947C>G (p.Cys1649Trp) c.3993C>G (p.Cys1331Trp) n.5247C>G c.4956C>G (p.Cys1652Trp) n.5445C>G | |
2 | g.214978834G>T | CA350459583 | ABCA12 | c.4947C>A (p.Cys1649Ter) c.3993C>A (p.Cys1331Ter) n.5247C>A c.4956C>A (p.Cys1652Ter) n.5445C>A | |
2 | g.214978835C>A | CA350459585 | ABCA12 | c.4946G>T (p.Cys1649Phe) c.3992G>T (p.Cys1331Phe) n.5246G>T c.4955G>T (p.Cys1652Phe) n.5444G>T | |
2 | g.214978835C= | CA1327160316 | ABCA12 | c.4946G= (p.Cys1649=) c.3992G= (p.Cys1331=) n.5246G= c.4955G= (p.Cys1652=) n.5444G= | |
2 | g.214978835C>G | CA350459587 | ABCA12 | c.4946G>C (p.Cys1649Ser) c.3992G>C (p.Cys1331Ser) n.5246G>C c.4955G>C (p.Cys1652Ser) n.5444G>C | |
2 | g.214978835C>T | CA2091344 | ABCA12 | c.4946G>A (p.Cys1649Tyr) c.3992G>A (p.Cys1331Tyr) n.5246G>A c.4955G>A (p.Cys1652Tyr) n.5444G>A | dbSNP ExAC |
2 | g.214978836A= | CA1327160317 | ABCA12 | c.4945T= (p.Cys1649=) c.3991T= (p.Cys1331=) n.5245T= c.4954T= (p.Cys1652=) n.5443T= | |
2 | g.214978836A>C | CA350459592 | ABCA12 | c.4945T>G (p.Cys1649Gly) c.3991T>G (p.Cys1331Gly) n.5245T>G c.4954T>G (p.Cys1652Gly) n.5443T>G | |
2 | g.214978836A>G | CA350459593 | ABCA12 | c.4945T>C (p.Cys1649Arg) c.3991T>C (p.Cys1331Arg) n.5245T>C c.4954T>C (p.Cys1652Arg) n.5443T>C | |
2 | g.214978836A>T | CA350459591 | ABCA12 | c.4945T>A (p.Cys1649Ser) c.3991T>A (p.Cys1331Ser) n.5245T>A c.4954T>A (p.Cys1652Ser) n.5443T>A | dbSNP |
2 | g.214978837C>A | CA431147099 | ABCA12 | c.4944G>T (p.Gly1648=) c.3990G>T (p.Gly1330=) n.5244G>T c.4953G>T (p.Gly1651=) n.5442G>T | |
2 | g.214978837C>G | CA431147102 | ABCA12 | c.4944G>C (p.Gly1648=) c.3990G>C (p.Gly1330=) n.5244G>C c.4953G>C (p.Gly1651=) n.5442G>C | |
2 | g.214978837C>T | CA431147105 | ABCA12 | c.4944G>A (p.Gly1648=) c.3990G>A (p.Gly1330=) n.5244G>A c.4953G>A (p.Gly1651=) n.5442G>A | |
2 | g.214978838C>A | CA64813546 | ABCA12 | c.4943G>T (p.Gly1648Val) c.3989G>T (p.Gly1330Val) n.5243G>T c.4952G>T (p.Gly1651Val) n.5441G>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.214978838C= | CA1327160318 | ABCA12 | c.4943G= (p.Gly1648=) c.3989G= (p.Gly1330=) n.5243G= c.4952G= (p.Gly1651=) n.5441G= | |
2 | g.214978838C>G | CA350459597 | ABCA12 | c.4943G>C (p.Gly1648Ala) c.3989G>C (p.Gly1330Ala) n.5243G>C c.4952G>C (p.Gly1651Ala) n.5441G>C | |
2 | g.214978838C>T | CA350459598 | ABCA12 | c.4943G>A (p.Gly1648Glu) c.3989G>A (p.Gly1330Glu) n.5243G>A c.4952G>A (p.Gly1651Glu) n.5441G>A | COSMIC COSMIC |
2 | g.214978839C>A | CA350459600 | ABCA12 | c.4942G>T (p.Gly1648Trp) c.3988G>T (p.Gly1330Trp) n.5242G>T c.4951G>T (p.Gly1651Trp) n.5440G>T | |
2 | g.214978839C= | CA1327160319 | ABCA12 | c.4942G= (p.Gly1648=) c.3988G= (p.Gly1330=) n.5242G= c.4951G= (p.Gly1651=) n.5440G= | |
2 | g.214978839C>G | CA350459602 | ABCA12 | c.4942G>C (p.Gly1648Arg) c.3988G>C (p.Gly1330Arg) n.5242G>C c.4951G>C (p.Gly1651Arg) n.5440G>C | |
2 | g.214978839C>T | CA2091345 | ABCA12 | c.4942G>A (p.Gly1648Arg) c.3988G>A (p.Gly1330Arg) n.5242G>A c.4951G>A (p.Gly1651Arg) n.5440G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214978840G>A | CA2091346 | ABCA12 | c.4941C>T (p.Ile1647=) c.3987C>T (p.Ile1329=) n.5241C>T c.4950C>T (p.Ile1650=) n.5439C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.214978840G>C | CA350459607 | ABCA12 | c.4941C>G (p.Ile1647Met) c.3987C>G (p.Ile1329Met) n.5241C>G c.4950C>G (p.Ile1650Met) n.5439C>G | |
2 | g.214978840G= | CA1327160320 | ABCA12 | c.4941C= (p.Ile1647=) c.3987C= (p.Ile1329=) n.5241C= c.4950C= (p.Ile1650=) n.5439C= | |
2 | g.214978840G>T | CA431147118 | ABCA12 | c.4941C>A (p.Ile1647=) c.3987C>A (p.Ile1329=) n.5241C>A c.4950C>A (p.Ile1650=) n.5439C>A | |
2 | g.214978841A>C | CA350459610 | ABCA12 | c.4940T>G (p.Ile1647Ser) c.3986T>G (p.Ile1329Ser) n.5240T>G c.4949T>G (p.Ile1650Ser) n.5438T>G | COSMIC |
2 | g.214978841A>G | CA350459612 | ABCA12 | c.4940T>C (p.Ile1647Thr) c.3986T>C (p.Ile1329Thr) n.5240T>C c.4949T>C (p.Ile1650Thr) n.5438T>C | |
2 | g.214978841A>T | CA350459614 | ABCA12 | c.4940T>A (p.Ile1647Asn) c.3986T>A (p.Ile1329Asn) n.5240T>A c.4949T>A (p.Ile1650Asn) n.5438T>A | |
2 | g.214978842T>A | CA350459621 | ABCA12 | c.4939A>T (p.Ile1647Phe) c.3985A>T (p.Ile1329Phe) n.5239A>T c.4948A>T (p.Ile1650Phe) n.5437A>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.214978842T>C | CA350459626 | ABCA12 | c.4939A>G (p.Ile1647Val) c.3985A>G (p.Ile1329Val) n.5239A>G c.4948A>G (p.Ile1650Val) n.5437A>G | |
2 | g.214978842T>G | CA350459627 | ABCA12 | c.4939A>C (p.Ile1647Leu) c.3985A>C (p.Ile1329Leu) n.5239A>C c.4948A>C (p.Ile1650Leu) n.5437A>C | |
2 | g.214978842T= | CA1327160321 | ABCA12 | c.4939A= (p.Ile1647=) c.3985A= (p.Ile1329=) n.5239A= c.4948A= (p.Ile1650=) n.5437A= | |
2 | g.214978843G>A | CA431147131 | ABCA12 | c.4938C>T (p.Asn1646=) c.3984C>T (p.Asn1328=) n.5238C>T c.4947C>T (p.Asn1649=) n.5436C>T | dbSNP gnomAD v4 |
2 | g.214978843G>C | CA350459630 | ABCA12 | c.4938C>G (p.Asn1646Lys) c.3984C>G (p.Asn1328Lys) n.5238C>G c.4947C>G (p.Asn1649Lys) n.5436C>G | |
2 | g.214978843G= | CA1327160322 | ABCA12 | c.4938C= (p.Asn1646=) c.3984C= (p.Asn1328=) n.5238C= c.4947C= (p.Asn1649=) n.5436C= | |
2 | g.214978843G>T | CA350459631 | ABCA12 | c.4938C>A (p.Asn1646Lys) c.3984C>A (p.Asn1328Lys) n.5238C>A c.4947C>A (p.Asn1649Lys) n.5436C>A | |
2 | g.214978844T>A | CA350459634 | ABCA12 | c.4937A>T (p.Asn1646Ile) c.3983A>T (p.Asn1328Ile) n.5237A>T c.4946A>T (p.Asn1649Ile) n.5435A>T | |
2 | g.214978844T>C | CA350459636 | ABCA12 | c.4937A>G (p.Asn1646Ser) c.3983A>G (p.Asn1328Ser) n.5237A>G c.4946A>G (p.Asn1649Ser) n.5435A>G | |
2 | g.214978844T>G | CA350459637 | ABCA12 | c.4937A>C (p.Asn1646Thr) c.3983A>C (p.Asn1328Thr) n.5237A>C c.4946A>C (p.Asn1649Thr) n.5435A>C | |
2 | g.214978845T>A | CA350459640 | ABCA12 | c.4936A>T (p.Asn1646Tyr) c.3982A>T (p.Asn1328Tyr) n.5236A>T c.4945A>T (p.Asn1649Tyr) n.5434A>T | |
2 | g.214978845T>C | CA350459642 | ABCA12 | c.4936A>G (p.Asn1646Asp) c.3982A>G (p.Asn1328Asp) n.5236A>G c.4945A>G (p.Asn1649Asp) n.5434A>G | |
2 | g.214978845T>G | CA350459644 | ABCA12 | c.4936A>C (p.Asn1646His) c.3982A>C (p.Asn1328His) n.5236A>C c.4945A>C (p.Asn1649His) n.5434A>C | |
2 | g.214978846G>A | CA431147151 | ABCA12 | c.4935C>T (p.Leu1645=) c.3981C>T (p.Leu1327=) n.5235C>T c.4944C>T (p.Leu1648=) n.5433C>T | |
2 | g.214978846G>C | CA431147157 | ABCA12 | c.4935C>G (p.Leu1645=) c.3981C>G (p.Leu1327=) n.5235C>G c.4944C>G (p.Leu1648=) n.5433C>G | |
2 | g.214978846G>T | CA431147154 | ABCA12 | c.4935C>A (p.Leu1645=) c.3981C>A (p.Leu1327=) n.5235C>A c.4944C>A (p.Leu1648=) n.5433C>A | |
2 | g.214978847A= | CA1327160323 | ABCA12 | c.4934T= (p.Leu1645=) c.3980T= (p.Leu1327=) n.5234T= c.4943T= (p.Leu1648=) n.5432T= | |
2 | g.214978847A>C | CA350459647 | ABCA12 | c.4934T>G (p.Leu1645Arg) c.3980T>G (p.Leu1327Arg) n.5234T>G c.4943T>G (p.Leu1648Arg) n.5432T>G | |
2 | g.214978847A>G | CA350459649 | ABCA12 | c.4934T>C (p.Leu1645Pro) c.3980T>C (p.Leu1327Pro) n.5234T>C c.4943T>C (p.Leu1648Pro) n.5432T>C | |
2 | g.214978847A>T | CA2091347 | ABCA12 | c.4934T>A (p.Leu1645His) c.3980T>A (p.Leu1327His) n.5234T>A c.4943T>A (p.Leu1648His) n.5432T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214978848G>A | CA350459653 | ABCA12 | c.4933C>T (p.Leu1645Phe) c.3979C>T (p.Leu1327Phe) n.5233C>T c.4942C>T (p.Leu1648Phe) n.5431C>T | |
2 | g.214978848G>C | CA350459655 | ABCA12 | c.4933C>G (p.Leu1645Val) c.3979C>G (p.Leu1327Val) n.5233C>G c.4942C>G (p.Leu1648Val) n.5431C>G | |
2 | g.214978848G>T | CA350459656 | ABCA12 | c.4933C>A (p.Leu1645Ile) c.3979C>A (p.Leu1327Ile) n.5233C>A c.4942C>A (p.Leu1648Ile) n.5431C>A | |
2 | g.214978849G>A | CA2091348 | ABCA12 | c.4932C>T (p.Asp1644=) c.3978C>T (p.Asp1326=) n.5232C>T c.4941C>T (p.Asp1647=) n.5430C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.214978849G>C | CA350459660 | ABCA12 | c.4932C>G (p.Asp1644Glu) c.3978C>G (p.Asp1326Glu) n.5232C>G c.4941C>G (p.Asp1647Glu) n.5430C>G | |
2 | g.214978849G= | CA1327160324 | ABCA12 | c.4932C= (p.Asp1644=) c.3978C= (p.Asp1326=) n.5232C= c.4941C= (p.Asp1647=) n.5430C= | |
2 | g.214978849G>T | CA350459661 | ABCA12 | c.4932C>A (p.Asp1644Glu) c.3978C>A (p.Asp1326Glu) n.5232C>A c.4941C>A (p.Asp1647Glu) n.5430C>A | |
2 | g.214978850T>A | CA350459665 | ABCA12 | c.4931A>T (p.Asp1644Val) c.3977A>T (p.Asp1326Val) n.5231A>T c.4940A>T (p.Asp1647Val) n.5429A>T | |
2 | g.214978850T>C | CA350459669 | ABCA12 | c.4931A>G (p.Asp1644Gly) c.3977A>G (p.Asp1326Gly) n.5231A>G c.4940A>G (p.Asp1647Gly) n.5429A>G | |
2 | g.214978850T>G | CA350459667 | ABCA12 | c.4931A>C (p.Asp1644Ala) c.3977A>C (p.Asp1326Ala) n.5231A>C c.4940A>C (p.Asp1647Ala) n.5429A>C | |
2 | g.214978851C>A | CA350459673 | ABCA12 | c.4930G>T (p.Asp1644Tyr) c.3976G>T (p.Asp1326Tyr) n.5230G>T c.4939G>T (p.Asp1647Tyr) n.5428G>T | gnomAD v4 |
2 | g.214978851C= | CA1327160325 | ABCA12 | c.4930G= (p.Asp1644=) c.3976G= (p.Asp1326=) n.5230G= c.4939G= (p.Asp1647=) n.5428G= | |
2 | g.214978851C>G | CA64813589 | ABCA12 | c.4930G>C (p.Asp1644His) c.3976G>C (p.Asp1326His) n.5230G>C c.4939G>C (p.Asp1647His) n.5428G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214978851C>T | CA350459675 | ABCA12 | c.4930G>A (p.Asp1644Asn) c.3976G>A (p.Asp1326Asn) n.5230G>A c.4939G>A (p.Asp1647Asn) n.5428G>A | gnomAD v4 |
2 | g.214978852A>C | CA431147189 | ABCA12 | c.4929T>G (p.Gly1643=) c.3975T>G (p.Gly1325=) n.5229T>G c.4938T>G (p.Gly1646=) n.5427T>G | |
2 | g.214978852A>G | CA431147192 | ABCA12 | c.4929T>C (p.Gly1643=) c.3975T>C (p.Gly1325=) n.5229T>C c.4938T>C (p.Gly1646=) n.5427T>C | |
2 | g.214978852A>T | CA431147194 | ABCA12 | c.4929T>A (p.Gly1643=) c.3975T>A (p.Gly1325=) n.5229T>A c.4938T>A (p.Gly1646=) n.5427T>A | |
2 | g.214978853C>A | CA2091349 | ABCA12 | c.4928G>T (p.Gly1643Val) c.3974G>T (p.Gly1325Val) n.5228G>T c.4937G>T (p.Gly1646Val) n.5426G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.214978853C= | CA1327160326 | ABCA12 | c.4928G= (p.Gly1643=) c.3974G= (p.Gly1325=) n.5228G= c.4937G= (p.Gly1646=) n.5426G= | |
2 | g.214978853C>G | CA350459685 | ABCA12 | c.4928G>C (p.Gly1643Ala) c.3974G>C (p.Gly1325Ala) n.5228G>C c.4937G>C (p.Gly1646Ala) n.5426G>C | |
2 | g.214978853C>T | CA350459683 | ABCA12 | c.4928G>A (p.Gly1643Asp) c.3974G>A (p.Gly1325Asp) n.5228G>A c.4937G>A (p.Gly1646Asp) n.5426G>A | |
2 | g.214978854C>A | CA2091351 | ABCA12 | c.4927G>T (p.Gly1643Cys) c.3973G>T (p.Gly1325Cys) n.5227G>T c.4936G>T (p.Gly1646Cys) n.5425G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.214978854C= | CA1327160327 | ABCA12 | c.4927G= (p.Gly1643=) c.3973G= (p.Gly1325=) n.5227G= c.4936G= (p.Gly1646=) n.5425G= | |
2 | g.214978854C>G | CA2091350 | ABCA12 | c.4927G>C (p.Gly1643Arg) c.3973G>C (p.Gly1325Arg) n.5227G>C c.4936G>C (p.Gly1646Arg) n.5425G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214978854C>T | CA350459687 | ABCA12 | c.4927G>A (p.Gly1643Ser) c.3973G>A (p.Gly1325Ser) n.5227G>A c.4936G>A (p.Gly1646Ser) n.5425G>A | ClinVar dbSNP |
2 | g.214978855C>A | CA350459690 | ABCA12 | c.4926G>T (p.Met1642Ile) c.3972G>T (p.Met1324Ile) n.5226G>T c.4935G>T (p.Met1645Ile) n.5424G>T | COSMIC COSMIC |
2 | g.214978855C>G | CA350459693 | ABCA12 | c.4926G>C (p.Met1642Ile) c.3972G>C (p.Met1324Ile) n.5226G>C c.4935G>C (p.Met1645Ile) n.5424G>C | |
2 | g.214978855C>T | CA350459695 | ABCA12 | c.4926G>A (p.Met1642Ile) c.3972G>A (p.Met1324Ile) n.5226G>A c.4935G>A (p.Met1645Ile) n.5424G>A | |
2 | g.214978856A>C | CA350459698 | ABCA12 | c.4925T>G (p.Met1642Arg) c.3971T>G (p.Met1324Arg) n.5225T>G c.4934T>G (p.Met1645Arg) n.5423T>G | |
2 | g.214978856A>G | CA350459700 | ABCA12 | c.4925T>C (p.Met1642Thr) c.3971T>C (p.Met1324Thr) n.5225T>C c.4934T>C (p.Met1645Thr) n.5423T>C | |
2 | g.214978856A>T | CA350459705 | ABCA12 | c.4925T>A (p.Met1642Lys) c.3971T>A (p.Met1324Lys) n.5225T>A c.4934T>A (p.Met1645Lys) n.5423T>A | |
2 | g.214978857T>A | CA350459708 | ABCA12 | c.4924A>T (p.Met1642Leu) c.3970A>T (p.Met1324Leu) n.5224A>T c.4933A>T (p.Met1645Leu) n.5422A>T | |
2 | g.214978857T>C | CA350459710 | ABCA12 | c.4924A>G (p.Met1642Val) c.3970A>G (p.Met1324Val) n.5224A>G c.4933A>G (p.Met1645Val) n.5422A>G | |
2 | g.214978857T>G | CA350459711 | ABCA12 | c.4924A>C (p.Met1642Leu) c.3970A>C (p.Met1324Leu) n.5224A>C c.4933A>C (p.Met1645Leu) n.5422A>C | |
2 | g.214978858G>A | CA431147229 | ABCA12 | c.4923C>T (p.Gly1641=) c.3969C>T (p.Gly1323=) n.5223C>T c.4932C>T (p.Gly1644=) n.5421C>T | |
2 | g.214978858G>C | CA431147232 | ABCA12 | c.4923C>G (p.Gly1641=) c.3969C>G (p.Gly1323=) n.5223C>G c.4932C>G (p.Gly1644=) n.5421C>G | |
2 | g.214978858G>T | CA431147234 | ABCA12 | c.4923C>A (p.Gly1641=) c.3969C>A (p.Gly1323=) n.5223C>A c.4932C>A (p.Gly1644=) n.5421C>A | |
2 | g.214978859C>A | CA350459721 | ABCA12 | c.4922G>T (p.Gly1641Val) c.3968G>T (p.Gly1323Val) n.5222G>T c.4931G>T (p.Gly1644Val) n.5420G>T | gnomAD v4 |
2 | g.214978859C= | CA1327160328 | ABCA12 | c.4922G= (p.Gly1641=) c.3968G= (p.Gly1323=) n.5222G= c.4931G= (p.Gly1644=) n.5420G= | |
2 | g.214978859C>G | CA350459714 | ABCA12 | c.4922G>C (p.Gly1641Ala) c.3968G>C (p.Gly1323Ala) n.5222G>C c.4931G>C (p.Gly1644Ala) n.5420G>C | |
2 | g.214978859C>T | CA2091352 | ABCA12 | c.4922G>A (p.Gly1641Asp) c.3968G>A (p.Gly1323Asp) n.5222G>A c.4931G>A (p.Gly1644Asp) n.5420G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214978860C>A | CA350459726 | ABCA12 | c.4921G>T (p.Gly1641Cys) c.3967G>T (p.Gly1323Cys) n.5221G>T c.4930G>T (p.Gly1644Cys) n.5419G>T | |
2 | g.214978860C>G | CA350459727 | ABCA12 | c.4921G>C (p.Gly1641Arg) c.3967G>C (p.Gly1323Arg) n.5221G>C c.4930G>C (p.Gly1644Arg) n.5419G>C | |
2 | g.214978860C>T | CA350459728 | ABCA12 | c.4921G>A (p.Gly1641Ser) c.3967G>A (p.Gly1323Ser) n.5221G>A c.4930G>A (p.Gly1644Ser) n.5419G>A | |
2 | g.214978861A>C | CA350459731 | ABCA12 | c.4920T>G (p.Asn1640Lys) c.3966T>G (p.Asn1322Lys) n.5220T>G c.4929T>G (p.Asn1643Lys) n.5418T>G | |
2 | g.214978861A>G | CA431147248 | ABCA12 | c.4920T>C (p.Asn1640=) c.3966T>C (p.Asn1322=) n.5220T>C c.4929T>C (p.Asn1643=) n.5418T>C | ClinVar gnomAD v4 |
2 | g.214978861A>T | CA350459732 | ABCA12 | c.4920T>A (p.Asn1640Lys) c.3966T>A (p.Asn1322Lys) n.5220T>A c.4929T>A (p.Asn1643Lys) n.5418T>A | |
2 | g.214978862T>A | CA350459739 | ABCA12 | c.4919A>T (p.Asn1640Ile) c.3965A>T (p.Asn1322Ile) n.5219A>T c.4928A>T (p.Asn1643Ile) n.5417A>T | |
2 | g.214978862T>C | CA350459740 | ABCA12 | c.4919A>G (p.Asn1640Ser) c.3965A>G (p.Asn1322Ser) n.5219A>G c.4928A>G (p.Asn1643Ser) n.5417A>G | dbSNP gnomAD v4 |
2 | g.214978862T>G | CA350459743 | ABCA12 | c.4919A>C (p.Asn1640Thr) c.3965A>C (p.Asn1322Thr) n.5219A>C c.4928A>C (p.Asn1643Thr) n.5417A>C | |
2 | g.214978862T= | CA1327160329 | ABCA12 | c.4919A= (p.Asn1640=) c.3965A= (p.Asn1322=) n.5219A= c.4928A= (p.Asn1643=) n.5417A= | |
2 | g.214978863T>A | CA350459745 | ABCA12 | c.4918A>T (p.Asn1640Tyr) c.3964A>T (p.Asn1322Tyr) n.5218A>T c.4927A>T (p.Asn1643Tyr) n.5416A>T | |
2 | g.214978863T>C | CA350459747 | ABCA12 | c.4918A>G (p.Asn1640Asp) c.3964A>G (p.Asn1322Asp) n.5218A>G c.4927A>G (p.Asn1643Asp) n.5416A>G | |
2 | g.214978863T>G | CA350459750 | ABCA12 | c.4918A>C (p.Asn1640His) c.3964A>C (p.Asn1322His) n.5218A>C c.4927A>C (p.Asn1643His) n.5416A>C | |
2 | g.214978864G>A | CA431147260 | ABCA12 | c.4917C>T (p.Asp1639=) c.3963C>T (p.Asp1321=) n.5217C>T c.4926C>T (p.Asp1642=) n.5415C>T | |
2 | g.214978864G>C | CA350459753 | ABCA12 | c.4917C>G (p.Asp1639Glu) c.3963C>G (p.Asp1321Glu) n.5217C>G c.4926C>G (p.Asp1642Glu) n.5415C>G | |
2 | g.214978864G>T | CA350459759 | ABCA12 | c.4917C>A (p.Asp1639Glu) c.3963C>A (p.Asp1321Glu) n.5217C>A c.4926C>A (p.Asp1642Glu) n.5415C>A | |
2 | g.214978865T>A | CA350459761 | ABCA12 | c.4916A>T (p.Asp1639Val) c.3962A>T (p.Asp1321Val) n.5216A>T c.4925A>T (p.Asp1642Val) n.5414A>T | |
2 | g.214978865T>C | CA350459762 | ABCA12 | c.4916A>G (p.Asp1639Gly) c.3962A>G (p.Asp1321Gly) n.5216A>G c.4925A>G (p.Asp1642Gly) n.5414A>G | |
2 | g.214978865T>G | CA350459763 | ABCA12 | c.4916A>C (p.Asp1639Ala) c.3962A>C (p.Asp1321Ala) n.5216A>C c.4925A>C (p.Asp1642Ala) n.5414A>C | |
2 | g.214978866C>A | CA350459765 | ABCA12 | c.4915G>T (p.Asp1639Tyr) c.3961G>T (p.Asp1321Tyr) n.5215G>T c.4924G>T (p.Asp1642Tyr) n.5413G>T | |
2 | g.214978866C= | CA1327160330 | ABCA12 | c.4915G= (p.Asp1639=) c.3961G= (p.Asp1321=) n.5215G= c.4924G= (p.Asp1642=) n.5413G= | |
2 | g.214978866C>G | CA350459773 | ABCA12 | c.4915G>C (p.Asp1639His) c.3961G>C (p.Asp1321His) n.5215G>C c.4924G>C (p.Asp1642His) n.5413G>C | |
2 | g.214978866C>T | CA10612784 | ABCA12 | c.4915G>A (p.Asp1639Asn) c.3961G>A (p.Asp1321Asn) n.5215G>A c.4924G>A (p.Asp1642Asn) n.5413G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.214978867G>A | CA2091353 | ABCA12 | c.4914C>T (p.Leu1638=) c.3960C>T (p.Leu1320=) n.5214C>T c.4923C>T (p.Leu1641=) n.5412C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214978867G>C | CA431147278 | ABCA12 | c.4914C>G (p.Leu1638=) c.3960C>G (p.Leu1320=) n.5214C>G c.4923C>G (p.Leu1641=) n.5412C>G | |
2 | g.214978867G= | CA1327160331 | ABCA12 | c.4914C= (p.Leu1638=) c.3960C= (p.Leu1320=) n.5214C= c.4923C= (p.Leu1641=) n.5412C= | |
2 | g.214978867G>T | CA431147280 | ABCA12 | c.4914C>A (p.Leu1638=) c.3960C>A (p.Leu1320=) n.5214C>A c.4923C>A (p.Leu1641=) n.5412C>A | gnomAD v4 |
2 | g.214978868A>C | CA350459776 | ABCA12 | c.4913T>G (p.Leu1638Arg) c.3959T>G (p.Leu1320Arg) n.5213T>G c.4922T>G (p.Leu1641Arg) n.5411T>G | |
2 | g.214978868A>G | CA350459777 | ABCA12 | c.4913T>C (p.Leu1638Pro) c.3959T>C (p.Leu1320Pro) n.5213T>C c.4922T>C (p.Leu1641Pro) n.5411T>C | |
2 | g.214978868A>T | CA350459778 | ABCA12 | c.4913T>A (p.Leu1638His) c.3959T>A (p.Leu1320His) n.5213T>A c.4922T>A (p.Leu1641His) n.5411T>A | |
2 | g.214978869G>A | CA350459779 | ABCA12 | c.4912C>T (p.Leu1638Phe) c.3958C>T (p.Leu1320Phe) n.5212C>T c.4921C>T (p.Leu1641Phe) n.5410C>T | dbSNP gnomAD v4 |
2 | g.214978869G>C | CA350459780 | ABCA12 | c.4912C>G (p.Leu1638Val) c.3958C>G (p.Leu1320Val) n.5212C>G c.4921C>G (p.Leu1641Val) n.5410C>G | gnomAD v4 |
2 | g.214978869G= | CA1327160332 | ABCA12 | c.4912C= (p.Leu1638=) c.3958C= (p.Leu1320=) n.5212C= c.4921C= (p.Leu1641=) n.5410C= | |
2 | g.214978869G>T | CA350459781 | ABCA12 | c.4912C>A (p.Leu1638Ile) c.3958C>A (p.Leu1320Ile) n.5212C>A c.4921C>A (p.Leu1641Ile) n.5410C>A | |
2 | g.214978870T>A | CA431147286 | ABCA12 | c.4911A>T (p.Ala1637=) c.3957A>T (p.Ala1319=) n.5211A>T c.4920A>T (p.Ala1640=) n.5409A>T | |
2 | g.214978870T>C | CA431147288 | ABCA12 | c.4911A>G (p.Ala1637=) c.3957A>G (p.Ala1319=) n.5211A>G c.4920A>G (p.Ala1640=) n.5409A>G | |
2 | g.214978870T>G | CA431147289 | ABCA12 | c.4911A>C (p.Ala1637=) c.3957A>C (p.Ala1319=) n.5211A>C c.4920A>C (p.Ala1640=) n.5409A>C | |
2 | g.214978871G>A | CA350459782 | ABCA12 | c.4910C>T (p.Ala1637Val) c.3956C>T (p.Ala1319Val) n.5210C>T c.4919C>T (p.Ala1640Val) n.5408C>T | gnomAD v4 |
2 | g.214978871G>C | CA350459783 | ABCA12 | c.4910C>G (p.Ala1637Gly) c.3956C>G (p.Ala1319Gly) n.5210C>G c.4919C>G (p.Ala1640Gly) n.5408C>G | |
2 | g.214978871G= | CA1327160333 | ABCA12 | c.4910C= (p.Ala1637=) c.3956C= (p.Ala1319=) n.5210C= c.4919C= (p.Ala1640=) n.5408C= | |
2 | g.214978871G>T | CA2091354 | ABCA12 | c.4910C>A (p.Ala1637Glu) c.3956C>A (p.Ala1319Glu) n.5210C>A c.4919C>A (p.Ala1640Glu) n.5408C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214978872C>A | CA350459784 | ABCA12 | c.4909G>T (p.Ala1637Ser) c.3955G>T (p.Ala1319Ser) n.5209G>T c.4918G>T (p.Ala1640Ser) n.5407G>T | |
2 | g.214978872C= | CA1327160334 | ABCA12 | c.4909G= (p.Ala1637=) c.3955G= (p.Ala1319=) n.5209G= c.4918G= (p.Ala1640=) n.5407G= | |
2 | g.214978872C>G | CA350459785 | ABCA12 | c.4909G>C (p.Ala1637Pro) c.3955G>C (p.Ala1319Pro) n.5209G>C c.4918G>C (p.Ala1640Pro) n.5407G>C | |
2 | g.214978872C>T | CA2091355 | ABCA12 | c.4909G>A (p.Ala1637Thr) c.3955G>A (p.Ala1319Thr) n.5209G>A c.4918G>A (p.Ala1640Thr) n.5407G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.214978873C>A | CA431147296 | ABCA12 | c.4908G>T (p.Arg1636=) c.3954G>T (p.Arg1318=) n.5208G>T c.4917G>T (p.Arg1639=) n.5406G>T | |
2 | g.214978873C>G | CA431147300 | ABCA12 | c.4908G>C (p.Arg1636=) c.3954G>C (p.Arg1318=) n.5208G>C c.4917G>C (p.Arg1639=) n.5406G>C | |
2 | g.214978873C>T | CA431147298 | ABCA12 | c.4908G>A (p.Arg1636=) c.3954G>A (p.Arg1318=) n.5208G>A c.4917G>A (p.Arg1639=) n.5406G>A | |
2 | g.214978874C>A | CA350459786 | ABCA12 | c.4907G>T (p.Arg1636Leu) c.3953G>T (p.Arg1318Leu) n.5207G>T c.4916G>T (p.Arg1639Leu) n.5405G>T | |
2 | g.214978874C= | CA1327160335 | ABCA12 | c.4907G= (p.Arg1636=) c.3953G= (p.Arg1318=) n.5207G= c.4916G= (p.Arg1639=) n.5405G= | |
2 | g.214978874C>G | CA350459787 | ABCA12 | c.4907G>C (p.Arg1636Pro) c.3953G>C (p.Arg1318Pro) n.5207G>C c.4916G>C (p.Arg1639Pro) n.5405G>C | |
2 | g.214978874C>T | CA2091356 | ABCA12 | c.4907G>A (p.Arg1636Gln) c.3953G>A (p.Arg1318Gln) n.5207G>A c.4916G>A (p.Arg1639Gln) n.5405G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.214978875G>A | CA2091357 | ABCA12 | c.4906C>T (p.Arg1636Trp) c.3952C>T (p.Arg1318Trp) n.5206C>T c.4915C>T (p.Arg1639Trp) n.5404C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214978875G>C | CA350459788 | ABCA12 | c.4906C>G (p.Arg1636Gly) c.3952C>G (p.Arg1318Gly) n.5206C>G c.4915C>G (p.Arg1639Gly) n.5404C>G | |
2 | g.214978875G= | CA1327160336 | ABCA12 | c.4906C= (p.Arg1636=) c.3952C= (p.Arg1318=) n.5206C= c.4915C= (p.Arg1639=) n.5404C= | |
2 | g.214978875G>T | CA431147305 | ABCA12 | c.4906C>A (p.Arg1636=) c.3952C>A (p.Arg1318=) n.5206C>A c.4915C>A (p.Arg1639=) n.5404C>A | |
2 | g.214978876T>A | CA431147307 | ABCA12 | c.4905A>T (p.Leu1635=) c.3951A>T (p.Leu1317=) n.5205A>T c.4914A>T (p.Leu1638=) n.5403A>T | |
2 | g.214978876T>C | CA64813641 | ABCA12 | c.4905A>G (p.Leu1635=) c.3951A>G (p.Leu1317=) n.5205A>G c.4914A>G (p.Leu1638=) n.5403A>G | dbSNP |
2 | g.214978876T>G | CA431147309 | ABCA12 | c.4905A>C (p.Leu1635=) c.3951A>C (p.Leu1317=) n.5205A>C c.4914A>C (p.Leu1638=) n.5403A>C | |
2 | g.214978876T= | CA1327160337 | ABCA12 | c.4905A= (p.Leu1635=) c.3951A= (p.Leu1317=) n.5205A= c.4914A= (p.Leu1638=) n.5403A= | |
2 | g.214978877A>C | CA350459789 | ABCA12 | c.4904T>G (p.Leu1635Arg) c.3950T>G (p.Leu1317Arg) n.5204T>G c.4913T>G (p.Leu1638Arg) n.5402T>G | |
2 | g.214978877A>G | CA350459790 | ABCA12 | c.4904T>C (p.Leu1635Pro) c.3950T>C (p.Leu1317Pro) n.5204T>C c.4913T>C (p.Leu1638Pro) n.5402T>C | |
2 | g.214978877A>T | CA350459791 | ABCA12 | c.4904T>A (p.Leu1635Gln) c.3950T>A (p.Leu1317Gln) n.5204T>A c.4913T>A (p.Leu1638Gln) n.5402T>A | |
2 | g.214978878G>A | CA431147315 | ABCA12 | c.4903C>T (p.Leu1635=) c.3949C>T (p.Leu1317=) n.5203C>T c.4912C>T (p.Leu1638=) n.5401C>T | ClinVar |
2 | g.214978878G>C | CA350459800 | ABCA12 | c.4903C>G (p.Leu1635Val) c.3949C>G (p.Leu1317Val) n.5203C>G c.4912C>G (p.Leu1638Val) n.5401C>G | ClinVar dbSNP |
2 | g.214978878G= | CA1327160338 | ABCA12 | c.4903C= (p.Leu1635=) c.3949C= (p.Leu1317=) n.5203C= c.4912C= (p.Leu1638=) n.5401C= | |
2 | g.214978878G>T | CA350459802 | ABCA12 | c.4903C>A (p.Leu1635Ile) c.3949C>A (p.Leu1317Ile) n.5203C>A c.4912C>A (p.Leu1638Ile) n.5401C>A | |
2 | g.214978879G>A | CA431147317 | ABCA12 | c.4902C>T (p.Leu1634=) c.3948C>T (p.Leu1316=) n.5202C>T c.4911C>T (p.Leu1637=) n.5400C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214978879G>C | CA431147319 | ABCA12 | c.4902C>G (p.Leu1634=) c.3948C>G (p.Leu1316=) n.5202C>G c.4911C>G (p.Leu1637=) n.5400C>G | |
2 | g.214978879G= | CA1327160339 | ABCA12 | c.4902C= (p.Leu1634=) c.3948C= (p.Leu1316=) n.5202C= c.4911C= (p.Leu1637=) n.5400C= | |
2 | g.214978879G>T | CA431147320 | ABCA12 | c.4902C>A (p.Leu1634=) c.3948C>A (p.Leu1316=) n.5202C>A c.4911C>A (p.Leu1637=) n.5400C>A | |
2 | g.214978880A= | CA1327160340 | ABCA12 | c.4901T= (p.Leu1634=) c.3947T= (p.Leu1316=) n.5201T= c.4910T= (p.Leu1637=) n.5399T= | |
2 | g.214978880A>C | CA350459805 | ABCA12 | c.4901T>G (p.Leu1634Arg) c.3947T>G (p.Leu1316Arg) n.5201T>G c.4910T>G (p.Leu1637Arg) n.5399T>G | |
2 | g.214978880A>G | CA350459809 | ABCA12 | c.4901T>C (p.Leu1634Pro) c.3947T>C (p.Leu1316Pro) n.5201T>C c.4910T>C (p.Leu1637Pro) n.5399T>C | dbSNP |
2 | g.214978880A>T | CA350459807 | ABCA12 | c.4901T>A (p.Leu1634His) c.3947T>A (p.Leu1316His) n.5201T>A c.4910T>A (p.Leu1637His) n.5399T>A | |
2 | g.214978881G>A | CA350459812 | ABCA12 | c.4900C>T (p.Leu1634Phe) c.3946C>T (p.Leu1316Phe) n.5200C>T c.4909C>T (p.Leu1637Phe) n.5398C>T | |
2 | g.214978881G>C | CA350459815 | ABCA12 | c.4900C>G (p.Leu1634Val) c.3946C>G (p.Leu1316Val) n.5200C>G c.4909C>G (p.Leu1637Val) n.5398C>G | |
2 | g.214978881G>T | CA350459817 | ABCA12 | c.4900C>A (p.Leu1634Ile) c.3946C>A (p.Leu1316Ile) n.5200C>A c.4909C>A (p.Leu1637Ile) n.5398C>A | |
2 | g.214978881_214978896delinsGTGACAGGTAGGCCCC | CA1327160341 | ABCA12 | c.4885_4900delinsGGGGCCTACCTGTCAC (p.Gly1629=) c.3931_3946delinsGGGGCCTACCTGTCAC (p.Gly1311=) n.5185_5200delinsGGGGCCTACCTGTCAC c.4894_4909delinsGGGGCCTACCTGTCAC (p.Gly1632=) n.5383_5398delinsGGGGCCTACCTGTCAC | |
2 | g.214978882T>A | CA431147327 | ABCA12 | c.4899A>T (p.Ser1633=) c.3945A>T (p.Ser1315=) n.5199A>T c.4908A>T (p.Ser1636=) n.5397A>T | |
2 | g.214978882T>C | CA431147328 | ABCA12 | c.4899A>G (p.Ser1633=) c.3945A>G (p.Ser1315=) n.5199A>G c.4908A>G (p.Ser1636=) n.5397A>G | |
2 | g.214978882T>G | CA431147330 | ABCA12 | c.4899A>C (p.Ser1633=) c.3945A>C (p.Ser1315=) n.5199A>C c.4908A>C (p.Ser1636=) n.5397A>C | |
2 | g.214978885_214978899del | CA1327160342 | ABCA12 | c.4885_4899del (p.Gly1629_Ser1633del) c.3931_3945del (p.Gly1311_Ser1315del) n.5185_5199del c.4894_4908del (p.Gly1632_Ser1636del) n.5383_5397del | dbSNP |
2 | g.214978883G>A | CA64813643 | ABCA12 | c.4898C>T (p.Ser1633Leu) c.3944C>T (p.Ser1315Leu) n.5198C>T c.4907C>T (p.Ser1636Leu) n.5396C>T | dbSNP gnomAD v4 |
2 | g.214978883G>C | CA350459821 | ABCA12 | c.4898C>G (p.Ser1633Ter) c.3944C>G (p.Ser1315Ter) n.5198C>G c.4907C>G (p.Ser1636Ter) n.5396C>G | |
2 | g.214978883G= | CA1327160343 | ABCA12 | c.4898C= (p.Ser1633=) c.3944C= (p.Ser1315=) n.5198C= c.4907C= (p.Ser1636=) n.5396C= | |
2 | g.214978883G>T | CA350459823 | ABCA12 | c.4898C>A (p.Ser1633Ter) c.3944C>A (p.Ser1315Ter) n.5198C>A c.4907C>A (p.Ser1636Ter) n.5396C>A | |
2 | g.214978884A>C | CA350459826 | ABCA12 | c.4897T>G (p.Ser1633Ala) c.3943T>G (p.Ser1315Ala) n.5197T>G c.4906T>G (p.Ser1636Ala) n.5395T>G | |
2 | g.214978884A>G | CA350459828 | ABCA12 | c.4897T>C (p.Ser1633Pro) c.3943T>C (p.Ser1315Pro) n.5197T>C c.4906T>C (p.Ser1636Pro) n.5395T>C | |
2 | g.214978884A>T | CA350459829 | ABCA12 | c.4897T>A (p.Ser1633Thr) c.3943T>A (p.Ser1315Thr) n.5197T>A c.4906T>A (p.Ser1636Thr) n.5395T>A | |
2 | g.214978885del | CA2586971421 | ABCA12 | c.4896del (p.Ser1633HisfsTer?) c.3942del (p.Ser1315HisfsTer?) n.5196del c.4905del (p.Ser1636HisfsTer?) n.5394del | gnomAD v4 |
2 | g.214978885C>A | CA431147337 | ABCA12 | c.4896G>T (p.Leu1632=) c.3942G>T (p.Leu1314=) n.5196G>T c.4905G>T (p.Leu1635=) n.5394G>T | |
2 | g.214978885C>G | CA431147339 | ABCA12 | c.4896G>C (p.Leu1632=) c.3942G>C (p.Leu1314=) n.5196G>C c.4905G>C (p.Leu1635=) n.5394G>C | |
2 | g.214978885C>T | CA431147341 | ABCA12 | c.4896G>A (p.Leu1632=) c.3942G>A (p.Leu1314=) n.5196G>A c.4905G>A (p.Leu1635=) n.5394G>A | |
2 | g.214978886A>C | CA350459831 | ABCA12 | c.4895T>G (p.Leu1632Arg) c.3941T>G (p.Leu1314Arg) n.5195T>G c.4904T>G (p.Leu1635Arg) n.5393T>G | |
2 | g.214978886A>G | CA350459832 | ABCA12 | c.4895T>C (p.Leu1632Pro) c.3941T>C (p.Leu1314Pro) n.5195T>C c.4904T>C (p.Leu1635Pro) n.5393T>C | |
2 | g.214978886A>T | CA350459834 | ABCA12 | c.4895T>A (p.Leu1632Gln) c.3941T>A (p.Leu1314Gln) n.5195T>A c.4904T>A (p.Leu1635Gln) n.5393T>A | |
2 | g.214978887G>A | CA431147345 | ABCA12 | c.4894C>T (p.Leu1632=) c.3940C>T (p.Leu1314=) n.5194C>T c.4903C>T (p.Leu1635=) n.5392C>T | |
2 | g.214978887G>C | CA350459837 | ABCA12 | c.4894C>G (p.Leu1632Val) c.3940C>G (p.Leu1314Val) n.5194C>G c.4903C>G (p.Leu1635Val) n.5392C>G | |
2 | g.214978887G>T | CA350459839 | ABCA12 | c.4894C>A (p.Leu1632Met) c.3940C>A (p.Leu1314Met) n.5194C>A c.4903C>A (p.Leu1635Met) n.5392C>A | |
2 | g.214978888G>A | CA2091358 | ABCA12 | c.4893C>T (p.Tyr1631=) c.3939C>T (p.Tyr1313=) n.5193C>T c.4902C>T (p.Tyr1634=) n.5391C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214978888G>C | CA350459841 | ABCA12 | c.4893C>G (p.Tyr1631Ter) c.3939C>G (p.Tyr1313Ter) n.5193C>G c.4902C>G (p.Tyr1634Ter) n.5391C>G | |
2 | g.214978888G= | CA1327160344 | ABCA12 | c.4893C= (p.Tyr1631=) c.3939C= (p.Tyr1313=) n.5193C= c.4902C= (p.Tyr1634=) n.5391C= | |
2 | g.214978888G>T | CA350459842 | ABCA12 | c.4893C>A (p.Tyr1631Ter) c.3939C>A (p.Tyr1313Ter) n.5193C>A c.4902C>A (p.Tyr1634Ter) n.5391C>A | |
2 | g.214978889T>A | CA350459845 | ABCA12 | c.4892A>T (p.Tyr1631Phe) c.3938A>T (p.Tyr1313Phe) n.5192A>T c.4901A>T (p.Tyr1634Phe) n.5390A>T | |
2 | g.214978889T>C | CA2091359 | ABCA12 | c.4892A>G (p.Tyr1631Cys) c.3938A>G (p.Tyr1313Cys) n.5192A>G c.4901A>G (p.Tyr1634Cys) n.5390A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.214978889T>G | CA350459848 | ABCA12 | c.4892A>C (p.Tyr1631Ser) c.3938A>C (p.Tyr1313Ser) n.5192A>C c.4901A>C (p.Tyr1634Ser) n.5390A>C | dbSNP |
2 | g.214978889T= | CA1327160345 | ABCA12 | c.4892A= (p.Tyr1631=) c.3938A= (p.Tyr1313=) n.5192A= c.4901A= (p.Tyr1634=) n.5390A= | |
2 | g.214978890A>C | CA350459850 | ABCA12 | c.4891T>G (p.Tyr1631Asp) c.3937T>G (p.Tyr1313Asp) n.5191T>G c.4900T>G (p.Tyr1634Asp) n.5389T>G | |
2 | g.214978890A>G | CA350459851 | ABCA12 | c.4891T>C (p.Tyr1631His) c.3937T>C (p.Tyr1313His) n.5191T>C c.4900T>C (p.Tyr1634His) n.5389T>C | |
2 | g.214978890A>T | CA350459853 | ABCA12 | c.4891T>A (p.Tyr1631Asn) c.3937T>A (p.Tyr1313Asn) n.5191T>A c.4900T>A (p.Tyr1634Asn) n.5389T>A | |
2 | g.214978891G>A | CA431147354 | ABCA12 | c.4890C>T (p.Ala1630=) c.3936C>T (p.Ala1312=) n.5190C>T c.4899C>T (p.Ala1633=) n.5388C>T | |
2 | g.214978891G>C | CA431147356 | ABCA12 | c.4890C>G (p.Ala1630=) c.3936C>G (p.Ala1312=) n.5190C>G c.4899C>G (p.Ala1633=) n.5388C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214978891G= | CA1327160346 | ABCA12 | c.4890C= (p.Ala1630=) c.3936C= (p.Ala1312=) n.5190C= c.4899C= (p.Ala1633=) n.5388C= | |
2 | g.214978891G>T | CA431147358 | ABCA12 | c.4890C>A (p.Ala1630=) c.3936C>A (p.Ala1312=) n.5190C>A c.4899C>A (p.Ala1633=) n.5388C>A | |
2 | g.214978892G>A | CA64813655 | ABCA12 | c.4889C>T (p.Ala1630Val) c.3935C>T (p.Ala1312Val) n.5189C>T c.4898C>T (p.Ala1633Val) n.5387C>T | dbSNP gnomAD v4 |
2 | g.214978892G>C | CA350459859 | ABCA12 | c.4889C>G (p.Ala1630Gly) c.3935C>G (p.Ala1312Gly) n.5189C>G c.4898C>G (p.Ala1633Gly) n.5387C>G | |
2 | g.214978892G= | CA1327160347 | ABCA12 | c.4889C= (p.Ala1630=) c.3935C= (p.Ala1312=) n.5189C= c.4898C= (p.Ala1633=) n.5387C= | |
2 | g.214978892G>T | CA350459860 | ABCA12 | c.4889C>A (p.Ala1630Asp) c.3935C>A (p.Ala1312Asp) n.5189C>A c.4898C>A (p.Ala1633Asp) n.5387C>A | |
2 | g.214978893C>A | CA350459862 | ABCA12 | c.4888G>T (p.Ala1630Ser) c.3934G>T (p.Ala1312Ser) n.5188G>T c.4897G>T (p.Ala1633Ser) n.5386G>T | |
2 | g.214978893C= | CA1327160348 | ABCA12 | c.4888G= (p.Ala1630=) c.3934G= (p.Ala1312=) n.5188G= c.4897G= (p.Ala1633=) n.5386G= | |
2 | g.214978893C>G | CA350459866 | ABCA12 | c.4888G>C (p.Ala1630Pro) c.3934G>C (p.Ala1312Pro) n.5188G>C c.4897G>C (p.Ala1633Pro) n.5386G>C | dbSNP |
2 | g.214978893C>T | CA2091360 | ABCA12 | c.4888G>A (p.Ala1630Thr) c.3934G>A (p.Ala1312Thr) n.5188G>A c.4897G>A (p.Ala1633Thr) n.5386G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.214978894C>A | CA431147365 | ABCA12 | c.4887G>T (p.Gly1629=) c.3933G>T (p.Gly1311=) n.5187G>T c.4896G>T (p.Gly1632=) n.5385G>T | |
2 | g.214978894C>G | CA431147366 | ABCA12 | c.4887G>C (p.Gly1629=) c.3933G>C (p.Gly1311=) n.5187G>C c.4896G>C (p.Gly1632=) n.5385G>C | gnomAD v4 |
2 | g.214978894C>T | CA431147368 | ABCA12 | c.4887G>A (p.Gly1629=) c.3933G>A (p.Gly1311=) n.5187G>A c.4896G>A (p.Gly1632=) n.5385G>A | |
2 | g.214978895C>A | CA350459867 | ABCA12 | c.4886G>T (p.Gly1629Val) c.3932G>T (p.Gly1311Val) n.5186G>T c.4895G>T (p.Gly1632Val) n.5384G>T | |
2 | g.214978895C= | CA1327160349 | ABCA12 | c.4886G= (p.Gly1629=) c.3932G= (p.Gly1311=) n.5186G= c.4895G= (p.Gly1632=) n.5384G= | |
2 | g.214978895C>G | CA350459870 | ABCA12 | c.4886G>C (p.Gly1629Ala) c.3932G>C (p.Gly1311Ala) n.5186G>C c.4895G>C (p.Gly1632Ala) n.5384G>C | |
2 | g.214978895C>T | CA2091361 | ABCA12 | c.4886G>A (p.Gly1629Glu) c.3932G>A (p.Gly1311Glu) n.5186G>A c.4895G>A (p.Gly1632Glu) n.5384G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.214978896C>A | CA350459871 | ABCA12 | c.4885G>T (p.Gly1629Trp) c.3931G>T (p.Gly1311Trp) n.5185G>T c.4894G>T (p.Gly1632Trp) n.5383G>T | |
2 | g.214978896C>G | CA350459874 | ABCA12 | c.4885G>C (p.Gly1629Arg) c.3931G>C (p.Gly1311Arg) n.5185G>C c.4894G>C (p.Gly1632Arg) n.5383G>C | |
2 | g.214978896C>T | CA350459881 | ABCA12 | c.4885G>A (p.Gly1629Arg) c.3931G>A (p.Gly1311Arg) n.5185G>A c.4894G>A (p.Gly1632Arg) n.5383G>A | |
2 | g.214978896_214978897del | CA2662978239 | ABCA12 | c.4884_4885del (p.Ala1630LeufsTer14) c.3930_3931del (p.Ala1312LeufsTer14) n.5184_5185del c.4893_4894del (p.Ala1633LeufsTer14) n.5382_5383del | gnomAD v4 |
2 | g.214978897T>A | CA431147375 | ABCA12 | c.4884A>T (p.Ser1628=) c.3930A>T (p.Ser1310=) n.5184A>T c.4893A>T (p.Ser1631=) n.5382A>T | |
2 | g.214978897T>C | CA431147376 | ABCA12 | c.4884A>G (p.Ser1628=) c.3930A>G (p.Ser1310=) n.5184A>G c.4893A>G (p.Ser1631=) n.5382A>G | |
2 | g.214978897T>G | CA431147378 | ABCA12 | c.4884A>C (p.Ser1628=) c.3930A>C (p.Ser1310=) n.5184A>C c.4893A>C (p.Ser1631=) n.5382A>C | |
2 | g.214978898G>A | CA350459884 | ABCA12 | c.4883C>T (p.Ser1628Leu) c.3929C>T (p.Ser1310Leu) n.5183C>T c.4892C>T (p.Ser1631Leu) n.5381C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214978898G>C | CA350459886 | ABCA12 | c.4883C>G (p.Ser1628Ter) c.3929C>G (p.Ser1310Ter) n.5183C>G c.4892C>G (p.Ser1631Ter) n.5381C>G | |
2 | g.214978898G= | CA1327160350 | ABCA12 | c.4883C= (p.Ser1628=) c.3929C= (p.Ser1310=) n.5183C= c.4892C= (p.Ser1631=) n.5381C= | |
2 | g.214978898G>T | CA350459888 | ABCA12 | c.4883C>A (p.Ser1628Ter) c.3929C>A (p.Ser1310Ter) n.5183C>A c.4892C>A (p.Ser1631Ter) n.5381C>A | |
2 | g.214978899A= | CA1327160351 | ABCA12 | c.4882T= (p.Ser1628=) c.3928T= (p.Ser1310=) n.5182T= c.4891T= (p.Ser1631=) n.5380T= | |
2 | g.214978899A>C | CA350459890 | ABCA12 | c.4882T>G (p.Ser1628Ala) c.3928T>G (p.Ser1310Ala) n.5182T>G c.4891T>G (p.Ser1631Ala) n.5380T>G | gnomAD v4 |
2 | g.214978899A>G | CA350459892 | ABCA12 | c.4882T>C (p.Ser1628Pro) c.3928T>C (p.Ser1310Pro) n.5182T>C c.4891T>C (p.Ser1631Pro) n.5380T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214978899A>T | CA350459893 | ABCA12 | c.4882T>A (p.Ser1628Thr) c.3928T>A (p.Ser1310Thr) n.5182T>A c.4891T>A (p.Ser1631Thr) n.5380T>A | |
2 | g.214978900G>A | CA431147384 | ABCA12 | c.4881C>T (p.Val1627=) c.3927C>T (p.Val1309=) n.5181C>T c.4890C>T (p.Val1630=) n.5379C>T | |
2 | g.214978900G>C | CA431147385 | ABCA12 | c.4881C>G (p.Val1627=) c.3927C>G (p.Val1309=) n.5181C>G c.4890C>G (p.Val1630=) n.5379C>G | |
2 | g.214978900G>T | CA431147387 | ABCA12 | c.4881C>A (p.Val1627=) c.3927C>A (p.Val1309=) n.5181C>A c.4890C>A (p.Val1630=) n.5379C>A | |
2 | g.214978901A= | CA1327160352 | ABCA12 | c.4880T= (p.Val1627=) c.3926T= (p.Val1309=) n.5180T= c.4889T= (p.Val1630=) n.5378T= | |
2 | g.214978901A>C | CA350459895 | ABCA12 | c.4880T>G (p.Val1627Gly) c.3926T>G (p.Val1309Gly) n.5180T>G c.4889T>G (p.Val1630Gly) n.5378T>G | gnomAD v4 |
2 | g.214978901A>G | CA350459894 | ABCA12 | c.4880T>C (p.Val1627Ala) c.3926T>C (p.Val1309Ala) n.5180T>C c.4889T>C (p.Val1630Ala) n.5378T>C | |
2 | g.214978901A>T | CA64813682 | ABCA12 | c.4880T>A (p.Val1627Asp) c.3926T>A (p.Val1309Asp) n.5180T>A c.4889T>A (p.Val1630Asp) n.5378T>A | dbSNP gnomAD v4 |
2 | g.214978902C>A | CA350459896 | ABCA12 | c.4879G>T (p.Val1627Phe) c.3925G>T (p.Val1309Phe) n.5179G>T c.4888G>T (p.Val1630Phe) n.5377G>T | |
2 | g.214978902C>G | CA350459897 | ABCA12 | c.4879G>C (p.Val1627Leu) c.3925G>C (p.Val1309Leu) n.5179G>C c.4888G>C (p.Val1630Leu) n.5377G>C | |
2 | g.214978902C>T | CA350459898 | ABCA12 | c.4879G>A (p.Val1627Ile) c.3925G>A (p.Val1309Ile) n.5179G>A c.4888G>A (p.Val1630Ile) n.5377G>A | |
2 | g.214978903T>A | CA350459899 | ABCA12 | c.4878A>T (p.Lys1626Asn) c.3924A>T (p.Lys1308Asn) n.5178A>T c.4887A>T (p.Lys1629Asn) n.5376A>T | |
2 | g.214978903T>C | CA431147395 | ABCA12 | c.4878A>G (p.Lys1626=) c.3924A>G (p.Lys1308=) n.5178A>G c.4887A>G (p.Lys1629=) n.5376A>G | |
2 | g.214978903T>G | CA350459900 | ABCA12 | c.4878A>C (p.Lys1626Asn) c.3924A>C (p.Lys1308Asn) n.5178A>C c.4887A>C (p.Lys1629Asn) n.5376A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214978903T= | CA1327160353 | ABCA12 | c.4878A= (p.Lys1626=) c.3924A= (p.Lys1308=) n.5178A= c.4887A= (p.Lys1629=) n.5376A= | |
2 | g.214978904T>A | CA350459901 | ABCA12 | c.4877A>T (p.Lys1626Ile) c.3923A>T (p.Lys1308Ile) n.5177A>T c.4886A>T (p.Lys1629Ile) n.5375A>T | |
2 | g.214978904T>C | CA2091362 | ABCA12 | c.4877A>G (p.Lys1626Arg) c.3923A>G (p.Lys1308Arg) n.5177A>G c.4886A>G (p.Lys1629Arg) n.5375A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214978904T>G | CA350459902 | ABCA12 | c.4877A>C (p.Lys1626Thr) c.3923A>C (p.Lys1308Thr) n.5177A>C c.4886A>C (p.Lys1629Thr) n.5375A>C | |
2 | g.214978904T= | CA1327160354 | ABCA12 | c.4877A= (p.Lys1626=) c.3923A= (p.Lys1308=) n.5177A= c.4886A= (p.Lys1629=) n.5375A= | |
2 | g.214978905T>A | CA350459903 | ABCA12 | c.4876A>T (p.Lys1626Ter) c.3922A>T (p.Lys1308Ter) n.5176A>T c.4885A>T (p.Lys1629Ter) n.5374A>T | |
2 | g.214978905T>C | CA350459904 | ABCA12 | c.4876A>G (p.Lys1626Glu) c.3922A>G (p.Lys1308Glu) n.5176A>G c.4885A>G (p.Lys1629Glu) n.5374A>G | gnomAD v4 |
2 | g.214978905T>G | CA350459905 | ABCA12 | c.4876A>C (p.Lys1626Gln) c.3922A>C (p.Lys1308Gln) n.5176A>C c.4885A>C (p.Lys1629Gln) n.5374A>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.214978905T= | CA1327160355 | ABCA12 | c.4876A= (p.Lys1626=) c.3922A= (p.Lys1308=) n.5176A= c.4885A= (p.Lys1629=) n.5374A= |