Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.214980481A>C | CA350460659 | ABCA12 | c.4740+2T>G (n.4740+2T>G) c.3786+2T>G (n.3786+2T>G) n.5040+2T>G c.4749+2T>G (n.4749+2T>G) n.5238+2T>G | |
2 | g.214980481A>G | CA350460661 | ABCA12 | c.4740+2T>C (n.4740+2T>C) c.3786+2T>C (n.3786+2T>C) n.5040+2T>C c.4749+2T>C (n.4749+2T>C) n.5238+2T>C | |
2 | g.214980481A>T | CA350460660 | ABCA12 | c.4740+2T>A (n.4740+2T>A) c.3786+2T>A (n.3786+2T>A) n.5040+2T>A c.4749+2T>A (n.4749+2T>A) n.5238+2T>A | |
2 | g.214980482C>A | CA350460662 | ABCA12 | c.4740+1G>T (n.4740+1G>T) c.3786+1G>T (n.3786+1G>T) n.5040+1G>T c.4749+1G>T (n.4749+1G>T) n.5238+1G>T | |
2 | g.214980482C>G | CA350460663 | ABCA12 | c.4740+1G>C (n.4740+1G>C) c.3786+1G>C (n.3786+1G>C) n.5040+1G>C c.4749+1G>C (n.4749+1G>C) n.5238+1G>C | |
2 | g.214980482C>T | CA350460664 | ABCA12 | c.4740+1G>A (n.4740+1G>A) c.3786+1G>A (n.3786+1G>A) n.5040+1G>A c.4749+1G>A (n.4749+1G>A) n.5238+1G>A | |
2 | g.214980482_214980485delinsCCTT | CA1327160970 | ABCA12 | c.4738_4740+1delinsAAGG c.3784_3786+1delinsAAGG n.5038_5040+1delinsAAGG c.4747_4749+1delinsAAGG n.5236_5238+1delinsAAGG | |
2 | g.214980483C>A | CA350460665 | ABCA12 | c.4740G>T (p.Lys1580Asn) c.3786G>T (p.Lys1262Asn) n.5040G>T c.4749G>T (p.Lys1583Asn) n.5238G>T | |
2 | g.214980483C>G | CA350460666 | ABCA12 | c.4740G>C (p.Lys1580Asn) c.3786G>C (p.Lys1262Asn) n.5040G>C c.4749G>C (p.Lys1583Asn) n.5238G>C | |
2 | g.214980483C>T | CA431148527 | ABCA12 | c.4740G>A (p.Lys1580=) c.3786G>A (p.Lys1262=) n.5040G>A c.4749G>A (p.Lys1583=) n.5238G>A | |
2 | g.214980489_214980491del | CA2091405 | ABCA12 | c.4738_4740del (p.Lys1580del) c.3784_3786del (p.Lys1262del) n.5038_5040del c.4747_4749del (p.Lys1583del) n.5236_5238del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214980484T>A | CA350460667 | ABCA12 | c.4739A>T (p.Lys1580Met) c.3785A>T (p.Lys1262Met) n.5039A>T c.4748A>T (p.Lys1583Met) n.5237A>T | |
2 | g.214980484T>C | CA350460668 | ABCA12 | c.4739A>G (p.Lys1580Arg) c.3785A>G (p.Lys1262Arg) n.5039A>G c.4748A>G (p.Lys1583Arg) n.5237A>G | |
2 | g.214980484T>G | CA350460669 | ABCA12 | c.4739A>C (p.Lys1580Thr) c.3785A>C (p.Lys1262Thr) n.5039A>C c.4748A>C (p.Lys1583Thr) n.5237A>C | |
2 | g.214980485T>A | CA350460670 | ABCA12 | c.4738A>T (p.Lys1580Ter) c.3784A>T (p.Lys1262Ter) n.5038A>T c.4747A>T (p.Lys1583Ter) n.5236A>T | |
2 | g.214980485T>C | CA350460671 | ABCA12 | c.4738A>G (p.Lys1580Glu) c.3784A>G (p.Lys1262Glu) n.5038A>G c.4747A>G (p.Lys1583Glu) n.5236A>G | |
2 | g.214980485T>G | CA350460672 | ABCA12 | c.4738A>C (p.Lys1580Gln) c.3784A>C (p.Lys1262Gln) n.5038A>C c.4747A>C (p.Lys1583Gln) n.5236A>C | |
2 | g.214980486C>A | CA350460673 | ABCA12 | c.4737G>T (p.Lys1579Asn) c.3783G>T (p.Lys1261Asn) n.5037G>T c.4746G>T (p.Lys1582Asn) n.5235G>T | |
2 | g.214980486C>G | CA350460674 | ABCA12 | c.4737G>C (p.Lys1579Asn) c.3783G>C (p.Lys1261Asn) n.5037G>C c.4746G>C (p.Lys1582Asn) n.5235G>C | |
2 | g.214980486C>T | CA431148531 | ABCA12 | c.4737G>A (p.Lys1579=) c.3783G>A (p.Lys1261=) n.5037G>A c.4746G>A (p.Lys1582=) n.5235G>A | gnomAD v4 |
2 | g.214980487T>A | CA350460675 | ABCA12 | c.4736A>T (p.Lys1579Met) c.3782A>T (p.Lys1261Met) n.5036A>T c.4745A>T (p.Lys1582Met) n.5234A>T | |
2 | g.214980487T>C | CA350460677 | ABCA12 | c.4736A>G (p.Lys1579Arg) c.3782A>G (p.Lys1261Arg) n.5036A>G c.4745A>G (p.Lys1582Arg) n.5234A>G | |
2 | g.214980487T>G | CA350460676 | ABCA12 | c.4736A>C (p.Lys1579Thr) c.3782A>C (p.Lys1261Thr) n.5036A>C c.4745A>C (p.Lys1582Thr) n.5234A>C | |
2 | g.214980488T>A | CA350460678 | ABCA12 | c.4735A>T (p.Lys1579Ter) c.3781A>T (p.Lys1261Ter) n.5035A>T c.4744A>T (p.Lys1582Ter) n.5233A>T | |
2 | g.214980488T>C | CA350460679 | ABCA12 | c.4735A>G (p.Lys1579Glu) c.3781A>G (p.Lys1261Glu) n.5035A>G c.4744A>G (p.Lys1582Glu) n.5233A>G | |
2 | g.214980488T>G | CA350460680 | ABCA12 | c.4735A>C (p.Lys1579Gln) c.3781A>C (p.Lys1261Gln) n.5035A>C c.4744A>C (p.Lys1582Gln) n.5233A>C | dbSNP |
2 | g.214980489C>A | CA350460681 | ABCA12 | c.4734G>T (p.Lys1578Asn) c.3780G>T (p.Lys1260Asn) n.5034G>T c.4743G>T (p.Lys1581Asn) n.5232G>T | COSMIC COSMIC |
2 | g.214980489C>G | CA350460682 | ABCA12 | c.4734G>C (p.Lys1578Asn) c.3780G>C (p.Lys1260Asn) n.5034G>C c.4743G>C (p.Lys1581Asn) n.5232G>C | |
2 | g.214980489C>T | CA431148553 | ABCA12 | c.4734G>A (p.Lys1578=) c.3780G>A (p.Lys1260=) n.5034G>A c.4743G>A (p.Lys1581=) n.5232G>A | |
2 | g.214980490T>A | CA350460683 | ABCA12 | c.4733A>T (p.Lys1578Met) c.3779A>T (p.Lys1260Met) n.5033A>T c.4742A>T (p.Lys1581Met) n.5231A>T | |
2 | g.214980490T>C | CA350460684 | ABCA12 | c.4733A>G (p.Lys1578Arg) c.3779A>G (p.Lys1260Arg) n.5033A>G c.4742A>G (p.Lys1581Arg) n.5231A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214980490T>G | CA350460685 | ABCA12 | c.4733A>C (p.Lys1578Thr) c.3779A>C (p.Lys1260Thr) n.5033A>C c.4742A>C (p.Lys1581Thr) n.5231A>C | |
2 | g.214980490T= | CA1327160971 | ABCA12 | c.4733A= (p.Lys1578=) c.3779A= (p.Lys1260=) n.5033A= c.4742A= (p.Lys1581=) n.5231A= | |
2 | g.214980491T>A | CA350460686 | ABCA12 | c.4732A>T (p.Lys1578Ter) c.3778A>T (p.Lys1260Ter) n.5032A>T c.4741A>T (p.Lys1581Ter) n.5230A>T | |
2 | g.214980491T>C | CA2091406 | ABCA12 | c.4732A>G (p.Lys1578Glu) c.3778A>G (p.Lys1260Glu) n.5032A>G c.4741A>G (p.Lys1581Glu) n.5230A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.214980491T>G | CA350460687 | ABCA12 | c.4732A>C (p.Lys1578Gln) c.3778A>C (p.Lys1260Gln) n.5032A>C c.4741A>C (p.Lys1581Gln) n.5230A>C | |
2 | g.214980491T= | CA1327160972 | ABCA12 | c.4732A= (p.Lys1578=) c.3778A= (p.Lys1260=) n.5032A= c.4741A= (p.Lys1581=) n.5230A= | |
2 | g.214980492G>A | CA431148568 | ABCA12 | c.4731C>T (p.Thr1577=) c.3777C>T (p.Thr1259=) n.5031C>T c.4740C>T (p.Thr1580=) n.5229C>T | |
2 | g.214980492G>C | CA431148570 | ABCA12 | c.4731C>G (p.Thr1577=) c.3777C>G (p.Thr1259=) n.5031C>G c.4740C>G (p.Thr1580=) n.5229C>G | |
2 | g.214980492G>T | CA431148569 | ABCA12 | c.4731C>A (p.Thr1577=) c.3777C>A (p.Thr1259=) n.5031C>A c.4740C>A (p.Thr1580=) n.5229C>A | |
2 | g.214980493del | CA2531160443 | ABCA12 | c.4731del (p.Lys1578ArgfsTer7) c.3777del (p.Lys1260ArgfsTer7) n.5031del c.4740del (p.Lys1581ArgfsTer7) n.5229del | |
2 | g.214980493G>A | CA350460690 | ABCA12 | c.4730C>T (p.Thr1577Ile) c.3776C>T (p.Thr1259Ile) n.5030C>T c.4739C>T (p.Thr1580Ile) n.5228C>T | |
2 | g.214980493G>C | CA350460689 | ABCA12 | c.4730C>G (p.Thr1577Ser) c.3776C>G (p.Thr1259Ser) n.5030C>G c.4739C>G (p.Thr1580Ser) n.5228C>G | |
2 | g.214980493G>T | CA350460688 | ABCA12 | c.4730C>A (p.Thr1577Asn) c.3776C>A (p.Thr1259Asn) n.5030C>A c.4739C>A (p.Thr1580Asn) n.5228C>A | |
2 | g.214980494T>A | CA350460691 | ABCA12 | c.4729A>T (p.Thr1577Ser) c.3775A>T (p.Thr1259Ser) n.5029A>T c.4738A>T (p.Thr1580Ser) n.5227A>T | |
2 | g.214980494T>C | CA350460692 | ABCA12 | c.4729A>G (p.Thr1577Ala) c.3775A>G (p.Thr1259Ala) n.5029A>G c.4738A>G (p.Thr1580Ala) n.5227A>G | |
2 | g.214980494T>G | CA350460693 | ABCA12 | c.4729A>C (p.Thr1577Pro) c.3775A>C (p.Thr1259Pro) n.5029A>C c.4738A>C (p.Thr1580Pro) n.5227A>C | |
2 | g.214980495A>C | CA431148582 | ABCA12 | c.4728T>G (p.Leu1576=) c.3774T>G (p.Leu1258=) n.5028T>G c.4737T>G (p.Leu1579=) n.5226T>G | |
2 | g.214980495A>G | CA431148584 | ABCA12 | c.4728T>C (p.Leu1576=) c.3774T>C (p.Leu1258=) n.5028T>C c.4737T>C (p.Leu1579=) n.5226T>C | dbSNP |
2 | g.214980495A>T | CA431148587 | ABCA12 | c.4728T>A (p.Leu1576=) c.3774T>A (p.Leu1258=) n.5028T>A c.4737T>A (p.Leu1579=) n.5226T>A | |
2 | g.214980496A>C | CA350460694 | ABCA12 | c.4727T>G (p.Leu1576Arg) c.3773T>G (p.Leu1258Arg) n.5027T>G c.4736T>G (p.Leu1579Arg) n.5225T>G | |
2 | g.214980496A>G | CA350460695 | ABCA12 | c.4727T>C (p.Leu1576Pro) c.3773T>C (p.Leu1258Pro) n.5027T>C c.4736T>C (p.Leu1579Pro) n.5225T>C | |
2 | g.214980496A>T | CA350460696 | ABCA12 | c.4727T>A (p.Leu1576His) c.3773T>A (p.Leu1258His) n.5027T>A c.4736T>A (p.Leu1579His) n.5225T>A | |
2 | g.214980497G>A | CA350460697 | ABCA12 | c.4726C>T (p.Leu1576Phe) c.3772C>T (p.Leu1258Phe) n.5026C>T c.4735C>T (p.Leu1579Phe) n.5224C>T | gnomAD v4 |
2 | g.214980497G>C | CA350460698 | ABCA12 | c.4726C>G (p.Leu1576Val) c.3772C>G (p.Leu1258Val) n.5026C>G c.4735C>G (p.Leu1579Val) n.5224C>G | |
2 | g.214980497G>T | CA350460699 | ABCA12 | c.4726C>A (p.Leu1576Ile) c.3772C>A (p.Leu1258Ile) n.5026C>A c.4735C>A (p.Leu1579Ile) n.5224C>A | |
2 | g.214980498C>A | CA431148599 | ABCA12 | c.4725G>T (p.Thr1575=) c.3771G>T (p.Thr1257=) n.5025G>T c.4734G>T (p.Thr1578=) n.5223G>T | |
2 | g.214980498C= | CA1327160973 | ABCA12 | c.4725G= (p.Thr1575=) c.3771G= (p.Thr1257=) n.5025G= c.4734G= (p.Thr1578=) n.5223G= | |
2 | g.214980498C>G | CA431148600 | ABCA12 | c.4725G>C (p.Thr1575=) c.3771G>C (p.Thr1257=) n.5025G>C c.4734G>C (p.Thr1578=) n.5223G>C | |
2 | g.214980498C>T | CA2091407 | ABCA12 | c.4725G>A (p.Thr1575=) c.3771G>A (p.Thr1257=) n.5025G>A c.4734G>A (p.Thr1578=) n.5223G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214980499G>A | CA2091408 | ABCA12 | c.4724C>T (p.Thr1575Met) c.3770C>T (p.Thr1257Met) n.5024C>T c.4733C>T (p.Thr1578Met) n.5222C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.214980499G>C | CA350460700 | ABCA12 | c.4724C>G (p.Thr1575Arg) c.3770C>G (p.Thr1257Arg) n.5024C>G c.4733C>G (p.Thr1578Arg) n.5222C>G | |
2 | g.214980499G= | CA1327160974 | ABCA12 | c.4724C= (p.Thr1575=) c.3770C= (p.Thr1257=) n.5024C= c.4733C= (p.Thr1578=) n.5222C= | |
2 | g.214980499G>T | CA350460701 | ABCA12 | c.4724C>A (p.Thr1575Lys) c.3770C>A (p.Thr1257Lys) n.5024C>A c.4733C>A (p.Thr1578Lys) n.5222C>A | |
2 | g.214980500T>A | CA350460702 | ABCA12 | c.4723A>T (p.Thr1575Ser) c.3769A>T (p.Thr1257Ser) n.5023A>T c.4732A>T (p.Thr1578Ser) n.5221A>T | |
2 | g.214980500T>C | CA350460704 | ABCA12 | c.4723A>G (p.Thr1575Ala) c.3769A>G (p.Thr1257Ala) n.5023A>G c.4732A>G (p.Thr1578Ala) n.5221A>G | |
2 | g.214980500T>G | CA350460703 | ABCA12 | c.4723A>C (p.Thr1575Pro) c.3769A>C (p.Thr1257Pro) n.5023A>C c.4732A>C (p.Thr1578Pro) n.5221A>C | |
2 | g.214980501G>A | CA431148609 | ABCA12 | c.4722C>T (p.Leu1574=) c.3768C>T (p.Leu1256=) n.5022C>T c.4731C>T (p.Leu1577=) n.5220C>T | |
2 | g.214980501G>C | CA431148607 | ABCA12 | c.4722C>G (p.Leu1574=) c.3768C>G (p.Leu1256=) n.5022C>G c.4731C>G (p.Leu1577=) n.5220C>G | dbSNP |
2 | g.214980501G= | CA1327160975 | ABCA12 | c.4722C= (p.Leu1574=) c.3768C= (p.Leu1256=) n.5022C= c.4731C= (p.Leu1577=) n.5220C= | |
2 | g.214980501G>T | CA431148608 | ABCA12 | c.4722C>A (p.Leu1574=) c.3768C>A (p.Leu1256=) n.5022C>A c.4731C>A (p.Leu1577=) n.5220C>A | |
2 | g.214980502A>C | CA350460706 | ABCA12 | c.4721T>G (p.Leu1574Arg) c.3767T>G (p.Leu1256Arg) n.5021T>G c.4730T>G (p.Leu1577Arg) n.5219T>G | |
2 | g.214980502A>G | CA350460710 | ABCA12 | c.4721T>C (p.Leu1574Pro) c.3767T>C (p.Leu1256Pro) n.5021T>C c.4730T>C (p.Leu1577Pro) n.5219T>C | |
2 | g.214980502A>T | CA350460708 | ABCA12 | c.4721T>A (p.Leu1574His) c.3767T>A (p.Leu1256His) n.5021T>A c.4730T>A (p.Leu1577His) n.5219T>A | |
2 | g.214980503G>A | CA2091409 | ABCA12 | c.4720C>T (p.Leu1574Phe) c.3766C>T (p.Leu1256Phe) n.5020C>T c.4729C>T (p.Leu1577Phe) n.5218C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.214980503G>C | CA350460713 | ABCA12 | c.4720C>G (p.Leu1574Val) c.3766C>G (p.Leu1256Val) n.5020C>G c.4729C>G (p.Leu1577Val) n.5218C>G | |
2 | g.214980503G= | CA1327160976 | ABCA12 | c.4720C= (p.Leu1574=) c.3766C= (p.Leu1256=) n.5020C= c.4729C= (p.Leu1577=) n.5218C= | |
2 | g.214980503G>T | CA350460715 | ABCA12 | c.4720C>A (p.Leu1574Ile) c.3766C>A (p.Leu1256Ile) n.5020C>A c.4729C>A (p.Leu1577Ile) n.5218C>A | |
2 | g.214980504G>A | CA431148622 | ABCA12 | c.4719C>T (p.His1573=) c.3765C>T (p.His1255=) n.5019C>T c.4728C>T (p.His1576=) n.5217C>T | dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.214980504G>C | CA350460717 | ABCA12 | c.4719C>G (p.His1573Gln) c.3765C>G (p.His1255Gln) n.5019C>G c.4728C>G (p.His1576Gln) n.5217C>G | |
2 | g.214980504G= | CA1327160977 | ABCA12 | c.4719C= (p.His1573=) c.3765C= (p.His1255=) n.5019C= c.4728C= (p.His1576=) n.5217C= | |
2 | g.214980504G>T | CA350460719 | ABCA12 | c.4719C>A (p.His1573Gln) c.3765C>A (p.His1255Gln) n.5019C>A c.4728C>A (p.His1576Gln) n.5217C>A | |
2 | g.214980505_214980506del | CA2662978473 | ABCA12 | c.4718_4719del (p.His1573ProfsTer18) c.3764_3765del (p.His1255ProfsTer18) n.5018_5019del c.4727_4728del (p.His1576ProfsTer18) n.5216_5217del | gnomAD v4 |
2 | g.214980505T>A | CA350460721 | ABCA12 | c.4718A>T (p.His1573Leu) c.3764A>T (p.His1255Leu) n.5018A>T c.4727A>T (p.His1576Leu) n.5216A>T | |
2 | g.214980505T>C | CA350460723 | ABCA12 | c.4718A>G (p.His1573Arg) c.3764A>G (p.His1255Arg) n.5018A>G c.4727A>G (p.His1576Arg) n.5216A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214980505T>G | CA350460725 | ABCA12 | c.4718A>C (p.His1573Pro) c.3764A>C (p.His1255Pro) n.5018A>C c.4727A>C (p.His1576Pro) n.5216A>C | |
2 | g.214980505T= | CA1327160978 | ABCA12 | c.4718A= (p.His1573=) c.3764A= (p.His1255=) n.5018A= c.4727A= (p.His1576=) n.5216A= | |
2 | g.214980506G>A | CA350460727 | ABCA12 | c.4717C>T (p.His1573Tyr) c.3763C>T (p.His1255Tyr) n.5017C>T c.4726C>T (p.His1576Tyr) n.5215C>T | COSMIC |
2 | g.214980506G>C | CA350460729 | ABCA12 | c.4717C>G (p.His1573Asp) c.3763C>G (p.His1255Asp) n.5017C>G c.4726C>G (p.His1576Asp) n.5215C>G | |
2 | g.214980506G>T | CA350460731 | ABCA12 | c.4717C>A (p.His1573Asn) c.3763C>A (p.His1255Asn) n.5017C>A c.4726C>A (p.His1576Asn) n.5215C>A | |
2 | g.214980507A>C | CA350460733 | ABCA12 | c.4716T>G (p.Tyr1572Ter) c.3762T>G (p.Tyr1254Ter) n.5016T>G c.4725T>G (p.Tyr1575Ter) n.5214T>G | |
2 | g.214980507A>G | CA431148631 | ABCA12 | c.4716T>C (p.Tyr1572=) c.3762T>C (p.Tyr1254=) n.5016T>C c.4725T>C (p.Tyr1575=) n.5214T>C | |
2 | g.214980507A>T | CA350460735 | ABCA12 | c.4716T>A (p.Tyr1572Ter) c.3762T>A (p.Tyr1254Ter) n.5016T>A c.4725T>A (p.Tyr1575Ter) n.5214T>A | |
2 | g.214980508T>A | CA350460738 | ABCA12 | c.4715A>T (p.Tyr1572Phe) c.3761A>T (p.Tyr1254Phe) n.5015A>T c.4724A>T (p.Tyr1575Phe) n.5213A>T | |
2 | g.214980508T>C | CA350460742 | ABCA12 | c.4715A>G (p.Tyr1572Cys) c.3761A>G (p.Tyr1254Cys) n.5015A>G c.4724A>G (p.Tyr1575Cys) n.5213A>G | gnomAD v4 |
2 | g.214980508T>G | CA350460740 | ABCA12 | c.4715A>C (p.Tyr1572Ser) c.3761A>C (p.Tyr1254Ser) n.5015A>C c.4724A>C (p.Tyr1575Ser) n.5213A>C | |
2 | g.214980509A>C | CA350460744 | ABCA12 | c.4714T>G (p.Tyr1572Asp) c.3760T>G (p.Tyr1254Asp) n.5014T>G c.4723T>G (p.Tyr1575Asp) n.5212T>G | |
2 | g.214980509A>G | CA350460746 | ABCA12 | c.4714T>C (p.Tyr1572His) c.3760T>C (p.Tyr1254His) n.5014T>C c.4723T>C (p.Tyr1575His) n.5212T>C | gnomAD v4 |
2 | g.214980509A>T | CA350460747 | ABCA12 | c.4714T>A (p.Tyr1572Asn) c.3760T>A (p.Tyr1254Asn) n.5014T>A c.4723T>A (p.Tyr1575Asn) n.5212T>A | |
2 | g.214980510C>A | CA431148641 | ABCA12 | c.4713G>T (p.Gly1571=) c.3759G>T (p.Gly1253=) n.5013G>T c.4722G>T (p.Gly1574=) n.5211G>T | |
2 | g.214980510C= | CA1327160979 | ABCA12 | c.4713G= (p.Gly1571=) c.3759G= (p.Gly1253=) n.5013G= c.4722G= (p.Gly1574=) n.5211G= | |
2 | g.214980510C>G | CA2091410 | ABCA12 | c.4713G>C (p.Gly1571=) c.3759G>C (p.Gly1253=) n.5013G>C c.4722G>C (p.Gly1574=) n.5211G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.214980510C>T | CA431148645 | ABCA12 | c.4713G>A (p.Gly1571=) c.3759G>A (p.Gly1253=) n.5013G>A c.4722G>A (p.Gly1574=) n.5211G>A | |
2 | g.214980511C>A | CA350460751 | ABCA12 | c.4712G>T (p.Gly1571Val) c.3758G>T (p.Gly1253Val) n.5012G>T c.4721G>T (p.Gly1574Val) n.5210G>T | |
2 | g.214980511C>G | CA350460752 | ABCA12 | c.4712G>C (p.Gly1571Ala) c.3758G>C (p.Gly1253Ala) n.5012G>C c.4721G>C (p.Gly1574Ala) n.5210G>C | |
2 | g.214980511C>T | CA350460754 | ABCA12 | c.4712G>A (p.Gly1571Glu) c.3758G>A (p.Gly1253Glu) n.5012G>A c.4721G>A (p.Gly1574Glu) n.5210G>A | |
2 | g.214980512C>A | CA350460757 | ABCA12 | c.4711G>T (p.Gly1571Trp) c.3757G>T (p.Gly1253Trp) n.5011G>T c.4720G>T (p.Gly1574Trp) n.5209G>T | |
2 | g.214980512C>G | CA350460758 | ABCA12 | c.4711G>C (p.Gly1571Arg) c.3757G>C (p.Gly1253Arg) n.5011G>C c.4720G>C (p.Gly1574Arg) n.5209G>C | |
2 | g.214980512C>T | CA350460760 | ABCA12 | c.4711G>A (p.Gly1571Arg) c.3757G>A (p.Gly1253Arg) n.5011G>A c.4720G>A (p.Gly1574Arg) n.5209G>A | |
2 | g.214980513A>C | CA350460764 | ABCA12 | c.4710T>G (p.Asp1570Glu) c.3756T>G (p.Asp1252Glu) n.5010T>G c.4719T>G (p.Asp1573Glu) n.5208T>G | |
2 | g.214980513A>G | CA431148651 | ABCA12 | c.4710T>C (p.Asp1570=) c.3756T>C (p.Asp1252=) n.5010T>C c.4719T>C (p.Asp1573=) n.5208T>C | gnomAD v4 |
2 | g.214980513A>T | CA350460762 | ABCA12 | c.4710T>A (p.Asp1570Glu) c.3756T>A (p.Asp1252Glu) n.5010T>A c.4719T>A (p.Asp1573Glu) n.5208T>A | |
2 | g.214980514T>A | CA350460766 | ABCA12 | c.4709A>T (p.Asp1570Val) c.3755A>T (p.Asp1252Val) n.5009A>T c.4718A>T (p.Asp1573Val) n.5207A>T | |
2 | g.214980514T>C | CA350460767 | ABCA12 | c.4709A>G (p.Asp1570Gly) c.3755A>G (p.Asp1252Gly) n.5009A>G c.4718A>G (p.Asp1573Gly) n.5207A>G | |
2 | g.214980514T>G | CA350460769 | ABCA12 | c.4709A>C (p.Asp1570Ala) c.3755A>C (p.Asp1252Ala) n.5009A>C c.4718A>C (p.Asp1573Ala) n.5207A>C | |
2 | g.214980515C>A | CA350460770 | ABCA12 | c.4708G>T (p.Asp1570Tyr) c.3754G>T (p.Asp1252Tyr) n.5008G>T c.4717G>T (p.Asp1573Tyr) n.5206G>T | gnomAD v4 |
2 | g.214980515C= | CA1327160980 | ABCA12 | c.4708G= (p.Asp1570=) c.3754G= (p.Asp1252=) n.5008G= c.4717G= (p.Asp1573=) n.5206G= | |
2 | g.214980515C>G | CA350460772 | ABCA12 | c.4708G>C (p.Asp1570His) c.3754G>C (p.Asp1252His) n.5008G>C c.4717G>C (p.Asp1573His) n.5206G>C | |
2 | g.214980515C>T | CA2091411 | ABCA12 | c.4708G>A (p.Asp1570Asn) c.3754G>A (p.Asp1252Asn) n.5008G>A c.4717G>A (p.Asp1573Asn) n.5206G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.214980516G>A | CA2091412 | ABCA12 | c.4707C>T (p.Gly1569=) c.3753C>T (p.Gly1251=) n.5007C>T c.4716C>T (p.Gly1572=) n.5205C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.214980516G>C | CA431148659 | ABCA12 | c.4707C>G (p.Gly1569=) c.3753C>G (p.Gly1251=) n.5007C>G c.4716C>G (p.Gly1572=) n.5205C>G | |
2 | g.214980516G= | CA1327160981 | ABCA12 | c.4707C= (p.Gly1569=) c.3753C= (p.Gly1251=) n.5007C= c.4716C= (p.Gly1572=) n.5205C= | |
2 | g.214980516G>T | CA431148661 | ABCA12 | c.4707C>A (p.Gly1569=) c.3753C>A (p.Gly1251=) n.5007C>A c.4716C>A (p.Gly1572=) n.5205C>A | |
2 | g.214980517C>A | CA350460779 | ABCA12 | c.4706G>T (p.Gly1569Val) c.3752G>T (p.Gly1251Val) n.5006G>T c.4715G>T (p.Gly1572Val) n.5204G>T | |
2 | g.214980517C>G | CA350460777 | ABCA12 | c.4706G>C (p.Gly1569Ala) c.3752G>C (p.Gly1251Ala) n.5006G>C c.4715G>C (p.Gly1572Ala) n.5204G>C | |
2 | g.214980517C>T | CA350460778 | ABCA12 | c.4706G>A (p.Gly1569Asp) c.3752G>A (p.Gly1251Asp) n.5006G>A c.4715G>A (p.Gly1572Asp) n.5204G>A | |
2 | g.214980518C>A | CA350460782 | ABCA12 | c.4705G>T (p.Gly1569Cys) c.3751G>T (p.Gly1251Cys) n.5005G>T c.4714G>T (p.Gly1572Cys) n.5203G>T | |
2 | g.214980518C>G | CA350460784 | ABCA12 | c.4705G>C (p.Gly1569Arg) c.3751G>C (p.Gly1251Arg) n.5005G>C c.4714G>C (p.Gly1572Arg) n.5203G>C | |
2 | g.214980518C>T | CA350460785 | ABCA12 | c.4705G>A (p.Gly1569Ser) c.3751G>A (p.Gly1251Ser) n.5005G>A c.4714G>A (p.Gly1572Ser) n.5203G>A | |
2 | g.214980519A>C | CA350460787 | ABCA12 | c.4704T>G (p.Phe1568Leu) c.3750T>G (p.Phe1250Leu) n.5004T>G c.4713T>G (p.Phe1571Leu) n.5202T>G | |
2 | g.214980519A>G | CA431148673 | ABCA12 | c.4704T>C (p.Phe1568=) c.3750T>C (p.Phe1250=) n.5004T>C c.4713T>C (p.Phe1571=) n.5202T>C | |
2 | g.214980519A>T | CA350460788 | ABCA12 | c.4704T>A (p.Phe1568Leu) c.3750T>A (p.Phe1250Leu) n.5004T>A c.4713T>A (p.Phe1571Leu) n.5202T>A | |
2 | g.214980521del | CA2662978474 | ABCA12 | c.4704del (p.Phe1568LeufsTer17) c.3750del (p.Phe1250LeufsTer17) n.5004del c.4713del (p.Phe1571LeufsTer17) n.5202del | gnomAD v4 |
2 | g.214980520A>C | CA350460790 | ABCA12 | c.4703T>G (p.Phe1568Cys) c.3749T>G (p.Phe1250Cys) n.5003T>G c.4712T>G (p.Phe1571Cys) n.5201T>G | gnomAD v4 |
2 | g.214980520A>G | CA350460794 | ABCA12 | c.4703T>C (p.Phe1568Ser) c.3749T>C (p.Phe1250Ser) n.5003T>C c.4712T>C (p.Phe1571Ser) n.5201T>C | |
2 | g.214980520A>T | CA350460792 | ABCA12 | c.4703T>A (p.Phe1568Tyr) c.3749T>A (p.Phe1250Tyr) n.5003T>A c.4712T>A (p.Phe1571Tyr) n.5201T>A | |
2 | g.214980521A>C | CA350460795 | ABCA12 | c.4702T>G (p.Phe1568Val) c.3748T>G (p.Phe1250Val) n.5002T>G c.4711T>G (p.Phe1571Val) n.5200T>G | |
2 | g.214980521A>G | CA350460796 | ABCA12 | c.4702T>C (p.Phe1568Leu) c.3748T>C (p.Phe1250Leu) n.5002T>C c.4711T>C (p.Phe1571Leu) n.5200T>C | gnomAD v4 |
2 | g.214980521A>T | CA350460798 | ABCA12 | c.4702T>A (p.Phe1568Ile) c.3748T>A (p.Phe1250Ile) n.5002T>A c.4711T>A (p.Phe1571Ile) n.5200T>A | |
2 | g.214980522G>A | CA431148687 | ABCA12 | c.4701C>T (p.Ala1567=) c.3747C>T (p.Ala1249=) n.5001C>T c.4710C>T (p.Ala1570=) n.5199C>T | |
2 | g.214980522G>C | CA431148683 | ABCA12 | c.4701C>G (p.Ala1567=) c.3747C>G (p.Ala1249=) n.5001C>G c.4710C>G (p.Ala1570=) n.5199C>G | |
2 | g.214980522G>T | CA431148685 | ABCA12 | c.4701C>A (p.Ala1567=) c.3747C>A (p.Ala1249=) n.5001C>A c.4710C>A (p.Ala1570=) n.5199C>A | |
2 | g.214980523G>A | CA350460800 | ABCA12 | c.4700C>T (p.Ala1567Val) c.3746C>T (p.Ala1249Val) n.5000C>T c.4709C>T (p.Ala1570Val) n.5198C>T | |
2 | g.214980523G>C | CA350460801 | ABCA12 | c.4700C>G (p.Ala1567Gly) c.3746C>G (p.Ala1249Gly) n.5000C>G c.4709C>G (p.Ala1570Gly) n.5198C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214980523G= | CA1327160982 | ABCA12 | c.4700C= (p.Ala1567=) c.3746C= (p.Ala1249=) n.5000C= c.4709C= (p.Ala1570=) n.5198C= | |
2 | g.214980523G>T | CA350460803 | ABCA12 | c.4700C>A (p.Ala1567Asp) c.3746C>A (p.Ala1249Asp) n.5000C>A c.4709C>A (p.Ala1570Asp) n.5198C>A | gnomAD v4 |
2 | g.214980524C>A | CA350460805 | ABCA12 | c.4699G>T (p.Ala1567Ser) c.3745G>T (p.Ala1249Ser) n.4999G>T c.4708G>T (p.Ala1570Ser) n.5197G>T | |
2 | g.214980524C>G | CA350460807 | ABCA12 | c.4699G>C (p.Ala1567Pro) c.3745G>C (p.Ala1249Pro) n.4999G>C c.4708G>C (p.Ala1570Pro) n.5197G>C | |
2 | g.214980524C>T | CA350460808 | ABCA12 | c.4699G>A (p.Ala1567Thr) c.3745G>A (p.Ala1249Thr) n.4999G>A c.4708G>A (p.Ala1570Thr) n.5197G>A | gnomAD v4 |
2 | g.214980525T>A | CA350460811 | ABCA12 | c.4698A>T (p.Glu1566Asp) c.3744A>T (p.Glu1248Asp) n.4998A>T c.4707A>T (p.Glu1569Asp) n.5196A>T | |
2 | g.214980525T>C | CA431148693 | ABCA12 | c.4698A>G (p.Glu1566=) c.3744A>G (p.Glu1248=) n.4998A>G c.4707A>G (p.Glu1569=) n.5196A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214980525T>G | CA350460812 | ABCA12 | c.4698A>C (p.Glu1566Asp) c.3744A>C (p.Glu1248Asp) n.4998A>C c.4707A>C (p.Glu1569Asp) n.5196A>C | |
2 | g.214980525T= | CA1327160983 | ABCA12 | c.4698A= (p.Glu1566=) c.3744A= (p.Glu1248=) n.4998A= c.4707A= (p.Glu1569=) n.5196A= | |
2 | g.214980526T>A | CA350460815 | ABCA12 | c.4697A>T (p.Glu1566Val) c.3743A>T (p.Glu1248Val) n.4997A>T c.4706A>T (p.Glu1569Val) n.5195A>T | |
2 | g.214980526T>C | CA64814840 | ABCA12 | c.4697A>G (p.Glu1566Gly) c.3743A>G (p.Glu1248Gly) n.4997A>G c.4706A>G (p.Glu1569Gly) n.5195A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.214980526T>G | CA350460816 | ABCA12 | c.4697A>C (p.Glu1566Ala) c.3743A>C (p.Glu1248Ala) n.4997A>C c.4706A>C (p.Glu1569Ala) n.5195A>C | |
2 | g.214980526T= | CA1327160984 | ABCA12 | c.4697A= (p.Glu1566=) c.3743A= (p.Glu1248=) n.4997A= c.4706A= (p.Glu1569=) n.5195A= | |
2 | g.214980527C>A | CA350460820 | ABCA12 | c.4696G>T (p.Glu1566Ter) c.3742G>T (p.Glu1248Ter) n.4996G>T c.4705G>T (p.Glu1569Ter) n.5194G>T | |
2 | g.214980527C= | CA1327160985 | ABCA12 | c.4696G= (p.Glu1566=) c.3742G= (p.Glu1248=) n.4996G= c.4705G= (p.Glu1569=) n.5194G= | |
2 | g.214980527C>G | CA350460823 | ABCA12 | c.4696G>C (p.Glu1566Gln) c.3742G>C (p.Glu1248Gln) n.4996G>C c.4705G>C (p.Glu1569Gln) n.5194G>C | |
2 | g.214980527C>T | CA64814843 | ABCA12 | c.4696G>A (p.Glu1566Lys) c.3742G>A (p.Glu1248Lys) n.4996G>A c.4705G>A (p.Glu1569Lys) n.5194G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.214980528C>A | CA350460825 | ABCA12 | c.4695G>T (p.Lys1565Asn) c.3741G>T (p.Lys1247Asn) n.4995G>T c.4704G>T (p.Lys1568Asn) n.5193G>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.214980528C= | CA1327160986 | ABCA12 | c.4695G= (p.Lys1565=) c.3741G= (p.Lys1247=) n.4995G= c.4704G= (p.Lys1568=) n.5193G= | |
2 | g.214980528C>G | CA350460827 | ABCA12 | c.4695G>C (p.Lys1565Asn) c.3741G>C (p.Lys1247Asn) n.4995G>C c.4704G>C (p.Lys1568Asn) n.5193G>C | |
2 | g.214980528C>T | CA431148702 | ABCA12 | c.4695G>A (p.Lys1565=) c.3741G>A (p.Lys1247=) n.4995G>A c.4704G>A (p.Lys1568=) n.5193G>A | COSMIC COSMIC |
2 | g.214980529T>A | CA350460828 | ABCA12 | c.4694A>T (p.Lys1565Met) c.3740A>T (p.Lys1247Met) n.4994A>T c.4703A>T (p.Lys1568Met) n.5192A>T | |
2 | g.214980529T>C | CA350460830 | ABCA12 | c.4694A>G (p.Lys1565Arg) c.3740A>G (p.Lys1247Arg) n.4994A>G c.4703A>G (p.Lys1568Arg) n.5192A>G | |
2 | g.214980529T>G | CA350460832 | ABCA12 | c.4694A>C (p.Lys1565Thr) c.3740A>C (p.Lys1247Thr) n.4994A>C c.4703A>C (p.Lys1568Thr) n.5192A>C | |
2 | g.214980530T>A | CA350460834 | ABCA12 | c.4693A>T (p.Lys1565Ter) c.3739A>T (p.Lys1247Ter) n.4993A>T c.4702A>T (p.Lys1568Ter) n.5191A>T | |
2 | g.214980530T>C | CA350460836 | ABCA12 | c.4693A>G (p.Lys1565Glu) c.3739A>G (p.Lys1247Glu) n.4993A>G c.4702A>G (p.Lys1568Glu) n.5191A>G | |
2 | g.214980530T>G | CA350460838 | ABCA12 | c.4693A>C (p.Lys1565Gln) c.3739A>C (p.Lys1247Gln) n.4993A>C c.4702A>C (p.Lys1568Gln) n.5191A>C | |
2 | g.214980531G>A | CA2091413 | ABCA12 | c.4692C>T (p.Leu1564=) c.3738C>T (p.Leu1246=) n.4992C>T c.4701C>T (p.Leu1567=) n.5190C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214980531G>C | CA431148709 | ABCA12 | c.4692C>G (p.Leu1564=) c.3738C>G (p.Leu1246=) n.4992C>G c.4701C>G (p.Leu1567=) n.5190C>G | gnomAD v4 |
2 | g.214980531G= | CA1327160987 | ABCA12 | c.4692C= (p.Leu1564=) c.3738C= (p.Leu1246=) n.4992C= c.4701C= (p.Leu1567=) n.5190C= | |
2 | g.214980531G>T | CA2091414 | ABCA12 | c.4692C>A (p.Leu1564=) c.3738C>A (p.Leu1246=) n.4992C>A c.4701C>A (p.Leu1567=) n.5190C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.214980532A>C | CA350460840 | ABCA12 | c.4691T>G (p.Leu1564Arg) c.3737T>G (p.Leu1246Arg) n.4991T>G c.4700T>G (p.Leu1567Arg) n.5189T>G | |
2 | g.214980532A>G | CA350460841 | ABCA12 | c.4691T>C (p.Leu1564Pro) c.3737T>C (p.Leu1246Pro) n.4991T>C c.4700T>C (p.Leu1567Pro) n.5189T>C | |
2 | g.214980532A>T | CA350460842 | ABCA12 | c.4691T>A (p.Leu1564His) c.3737T>A (p.Leu1246His) n.4991T>A c.4700T>A (p.Leu1567His) n.5189T>A | |
2 | g.214980533G>A | CA350460848 | ABCA12 | c.4690C>T (p.Leu1564Phe) c.3736C>T (p.Leu1246Phe) n.4990C>T c.4699C>T (p.Leu1567Phe) n.5188C>T | |
2 | g.214980533G>C | CA350460846 | ABCA12 | c.4690C>G (p.Leu1564Val) c.3736C>G (p.Leu1246Val) n.4990C>G c.4699C>G (p.Leu1567Val) n.5188C>G | |
2 | g.214980533G>T | CA350460844 | ABCA12 | c.4690C>A (p.Leu1564Ile) c.3736C>A (p.Leu1246Ile) n.4990C>A c.4699C>A (p.Leu1567Ile) n.5188C>A | |
2 | g.214980534G>A | CA2091415 | ABCA12 | c.4689C>T (p.Tyr1563=) c.3735C>T (p.Tyr1245=) n.4989C>T c.4698C>T (p.Tyr1566=) n.5187C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.214980534G>C | CA350460851 | ABCA12 | c.4689C>G (p.Tyr1563Ter) c.3735C>G (p.Tyr1245Ter) n.4989C>G c.4698C>G (p.Tyr1566Ter) n.5187C>G | |
2 | g.214980534G= | CA1327160988 | ABCA12 | c.4689C= (p.Tyr1563=) c.3735C= (p.Tyr1245=) n.4989C= c.4698C= (p.Tyr1566=) n.5187C= | |
2 | g.214980534G>T | CA350460853 | ABCA12 | c.4689C>A (p.Tyr1563Ter) c.3735C>A (p.Tyr1245Ter) n.4989C>A c.4698C>A (p.Tyr1566Ter) n.5187C>A | |
2 | g.214980535T>A | CA350460855 | ABCA12 | c.4688A>T (p.Tyr1563Phe) c.3734A>T (p.Tyr1245Phe) n.4988A>T c.4697A>T (p.Tyr1566Phe) n.5186A>T | |
2 | g.214980535T>C | CA2091416 | ABCA12 | c.4688A>G (p.Tyr1563Cys) c.3734A>G (p.Tyr1245Cys) n.4988A>G c.4697A>G (p.Tyr1566Cys) n.5186A>G | dbSNP ExAC gnomAD v2 |
2 | g.214980535T>G | CA350460858 | ABCA12 | c.4688A>C (p.Tyr1563Ser) c.3734A>C (p.Tyr1245Ser) n.4988A>C c.4697A>C (p.Tyr1566Ser) n.5186A>C | |
2 | g.214980535T= | CA1327160989 | ABCA12 | c.4688A= (p.Tyr1563=) c.3734A= (p.Tyr1245=) n.4988A= c.4697A= (p.Tyr1566=) n.5186A= | |
2 | g.214980536A>C | CA350460860 | ABCA12 | c.4687T>G (p.Tyr1563Asp) c.3733T>G (p.Tyr1245Asp) n.4987T>G c.4696T>G (p.Tyr1566Asp) n.5185T>G | |
2 | g.214980536A>G | CA350460862 | ABCA12 | c.4687T>C (p.Tyr1563His) c.3733T>C (p.Tyr1245His) n.4987T>C c.4696T>C (p.Tyr1566His) n.5185T>C | gnomAD v4 |
2 | g.214980536A>T | CA350460864 | ABCA12 | c.4687T>A (p.Tyr1563Asn) c.3733T>A (p.Tyr1245Asn) n.4987T>A c.4696T>A (p.Tyr1566Asn) n.5185T>A | |
2 | g.214980537A>C | CA350460866 | ABCA12 | c.4686T>G (p.Phe1562Leu) c.3732T>G (p.Phe1244Leu) n.4986T>G c.4695T>G (p.Phe1565Leu) n.5184T>G | |
2 | g.214980537A>G | CA431148727 | ABCA12 | c.4686T>C (p.Phe1562=) c.3732T>C (p.Phe1244=) n.4986T>C c.4695T>C (p.Phe1565=) n.5184T>C | |
2 | g.214980537A>T | CA350460868 | ABCA12 | c.4686T>A (p.Phe1562Leu) c.3732T>A (p.Phe1244Leu) n.4986T>A c.4695T>A (p.Phe1565Leu) n.5184T>A | |
2 | g.214980538A>C | CA350460874 | ABCA12 | c.4685T>G (p.Phe1562Cys) c.3731T>G (p.Phe1244Cys) n.4985T>G c.4694T>G (p.Phe1565Cys) n.5183T>G | gnomAD v4 |
2 | g.214980538A>G | CA350460872 | ABCA12 | c.4685T>C (p.Phe1562Ser) c.3731T>C (p.Phe1244Ser) n.4985T>C c.4694T>C (p.Phe1565Ser) n.5183T>C | |
2 | g.214980538A>T | CA350460870 | ABCA12 | c.4685T>A (p.Phe1562Tyr) c.3731T>A (p.Phe1244Tyr) n.4985T>A c.4694T>A (p.Phe1565Tyr) n.5183T>A | |
2 | g.214980539A>C | CA350460876 | ABCA12 | c.4684T>G (p.Phe1562Val) c.3730T>G (p.Phe1244Val) n.4984T>G c.4693T>G (p.Phe1565Val) n.5182T>G | |
2 | g.214980539A>G | CA350460878 | ABCA12 | c.4684T>C (p.Phe1562Leu) c.3730T>C (p.Phe1244Leu) n.4984T>C c.4693T>C (p.Phe1565Leu) n.5182T>C | |
2 | g.214980539A>T | CA350460880 | ABCA12 | c.4684T>A (p.Phe1562Ile) c.3730T>A (p.Phe1244Ile) n.4984T>A c.4693T>A (p.Phe1565Ile) n.5182T>A | |
2 | g.214980540T>A | CA431148732 | ABCA12 | c.4683A>T (p.Pro1561=) c.3729A>T (p.Pro1243=) n.4983A>T c.4692A>T (p.Pro1564=) n.5181A>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.214980540T>C | CA431148734 | ABCA12 | c.4683A>G (p.Pro1561=) c.3729A>G (p.Pro1243=) n.4983A>G c.4692A>G (p.Pro1564=) n.5181A>G | |
2 | g.214980540T>G | CA431148735 | ABCA12 | c.4683A>C (p.Pro1561=) c.3729A>C (p.Pro1243=) n.4983A>C c.4692A>C (p.Pro1564=) n.5181A>C | |
2 | g.214980540T= | CA1327160990 | ABCA12 | c.4683A= (p.Pro1561=) c.3729A= (p.Pro1243=) n.4983A= c.4692A= (p.Pro1564=) n.5181A= | |
2 | g.214980541G>A | CA350460881 | ABCA12 | c.4682C>T (p.Pro1561Leu) c.3728C>T (p.Pro1243Leu) n.4982C>T c.4691C>T (p.Pro1564Leu) n.5180C>T | |
2 | g.214980541G>C | CA350460883 | ABCA12 | c.4682C>G (p.Pro1561Arg) c.3728C>G (p.Pro1243Arg) n.4982C>G c.4691C>G (p.Pro1564Arg) n.5180C>G | gnomAD v4 |
2 | g.214980541G>T | CA350460885 | ABCA12 | c.4682C>A (p.Pro1561Gln) c.3728C>A (p.Pro1243Gln) n.4982C>A c.4691C>A (p.Pro1564Gln) n.5180C>A | |
2 | g.214980542G>A | CA350460886 | ABCA12 | c.4681C>T (p.Pro1561Ser) c.3727C>T (p.Pro1243Ser) n.4981C>T c.4690C>T (p.Pro1564Ser) n.5179C>T | |
2 | g.214980542G>C | CA350460888 | ABCA12 | c.4681C>G (p.Pro1561Ala) c.3727C>G (p.Pro1243Ala) n.4981C>G c.4690C>G (p.Pro1564Ala) n.5179C>G | |
2 | g.214980542G>T | CA350460890 | ABCA12 | c.4681C>A (p.Pro1561Thr) c.3727C>A (p.Pro1243Thr) n.4981C>A c.4690C>A (p.Pro1564Thr) n.5179C>A | |
2 | g.214980543G>A | CA431148742 | ABCA12 | c.4680C>T (p.Ser1560=) c.3726C>T (p.Ser1242=) n.4980C>T c.4689C>T (p.Ser1563=) n.5178C>T | |
2 | g.214980543G>C | CA431148744 | ABCA12 | c.4680C>G (p.Ser1560=) c.3726C>G (p.Ser1242=) n.4980C>G c.4689C>G (p.Ser1563=) n.5178C>G | |
2 | g.214980543G>T | CA431148746 | ABCA12 | c.4680C>A (p.Ser1560=) c.3726C>A (p.Ser1242=) n.4980C>A c.4689C>A (p.Ser1563=) n.5178C>A | |
2 | g.214980544G>A | CA350460893 | ABCA12 | c.4679C>T (p.Ser1560Phe) c.3725C>T (p.Ser1242Phe) n.4979C>T c.4688C>T (p.Ser1563Phe) n.5177C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214980544G>C | CA350460895 | ABCA12 | c.4679C>G (p.Ser1560Cys) c.3725C>G (p.Ser1242Cys) n.4979C>G c.4688C>G (p.Ser1563Cys) n.5177C>G | |
2 | g.214980544G= | CA1327160991 | ABCA12 | c.4679C= (p.Ser1560=) c.3725C= (p.Ser1242=) n.4979C= c.4688C= (p.Ser1563=) n.5177C= | |
2 | g.214980544G>T | CA350460897 | ABCA12 | c.4679C>A (p.Ser1560Tyr) c.3725C>A (p.Ser1242Tyr) n.4979C>A c.4688C>A (p.Ser1563Tyr) n.5177C>A | gnomAD v4 |
2 | g.214980545A>C | CA350460902 | ABCA12 | c.4678T>G (p.Ser1560Ala) c.3724T>G (p.Ser1242Ala) n.4978T>G c.4687T>G (p.Ser1563Ala) n.5176T>G | |
2 | g.214980545A>G | CA350460899 | ABCA12 | c.4678T>C (p.Ser1560Pro) c.3724T>C (p.Ser1242Pro) n.4978T>C c.4687T>C (p.Ser1563Pro) n.5176T>C | |
2 | g.214980545A>T | CA350460900 | ABCA12 | c.4678T>A (p.Ser1560Thr) c.3724T>A (p.Ser1242Thr) n.4978T>A c.4687T>A (p.Ser1563Thr) n.5176T>A | |
2 | g.214980546C>A | CA431148751 | ABCA12 | c.4677G>T (p.Gly1559=) c.3723G>T (p.Gly1241=) n.4977G>T c.4686G>T (p.Gly1562=) n.5175G>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.214980546C= | CA1327160992 | ABCA12 | c.4677G= (p.Gly1559=) c.3723G= (p.Gly1241=) n.4977G= c.4686G= (p.Gly1562=) n.5175G= | |
2 | g.214980546C>G | CA431148752 | ABCA12 | c.4677G>C (p.Gly1559=) c.3723G>C (p.Gly1241=) n.4977G>C c.4686G>C (p.Gly1562=) n.5175G>C | |
2 | g.214980546C>T | CA2091417 | ABCA12 | c.4677G>A (p.Gly1559=) c.3723G>A (p.Gly1241=) n.4977G>A c.4686G>A (p.Gly1562=) n.5175G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.214980547C>A | CA350460905 | ABCA12 | c.4676G>T (p.Gly1559Val) c.3722G>T (p.Gly1241Val) n.4976G>T c.4685G>T (p.Gly1562Val) n.5174G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.214980547C= | CA1327160993 | ABCA12 | c.4676G= (p.Gly1559=) c.3722G= (p.Gly1241=) n.4976G= c.4685G= (p.Gly1562=) n.5174G= | |
2 | g.214980547C>G | CA350460907 | ABCA12 | c.4676G>C (p.Gly1559Ala) c.3722G>C (p.Gly1241Ala) n.4976G>C c.4685G>C (p.Gly1562Ala) n.5174G>C | |
2 | g.214980547C>T | CA350460909 | ABCA12 | c.4676G>A (p.Gly1559Glu) c.3722G>A (p.Gly1241Glu) n.4976G>A c.4685G>A (p.Gly1562Glu) n.5174G>A | gnomAD v4 |
2 | g.214980548C>A | CA350460911 | ABCA12 | c.4675G>T (p.Gly1559Trp) c.3721G>T (p.Gly1241Trp) n.4975G>T c.4684G>T (p.Gly1562Trp) n.5173G>T | |
2 | g.214980548C>G | CA350460913 | ABCA12 | c.4675G>C (p.Gly1559Arg) c.3721G>C (p.Gly1241Arg) n.4975G>C c.4684G>C (p.Gly1562Arg) n.5173G>C | |
2 | g.214980548C>T | CA350460915 | ABCA12 | c.4675G>A (p.Gly1559Arg) c.3721G>A (p.Gly1241Arg) n.4975G>A c.4684G>A (p.Gly1562Arg) n.5173G>A | gnomAD v4 |
2 | g.214980549A>C | CA350460917 | ABCA12 | c.4674T>G (p.Cys1558Trp) c.3720T>G (p.Cys1240Trp) n.4974T>G c.4683T>G (p.Cys1561Trp) n.5172T>G | |
2 | g.214980549A>G | CA431148765 | ABCA12 | c.4674T>C (p.Cys1558=) c.3720T>C (p.Cys1240=) n.4974T>C c.4683T>C (p.Cys1561=) n.5172T>C | gnomAD v4 |
2 | g.214980549A>T | CA350460919 | ABCA12 | c.4674T>A (p.Cys1558Ter) c.3720T>A (p.Cys1240Ter) n.4974T>A c.4683T>A (p.Cys1561Ter) n.5172T>A | |
2 | g.214980550C>A | CA350460921 | ABCA12 | c.4673G>T (p.Cys1558Phe) c.3719G>T (p.Cys1240Phe) n.4973G>T c.4682G>T (p.Cys1561Phe) n.5171G>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.214980550C= | CA1327160994 | ABCA12 | c.4673G= (p.Cys1558=) c.3719G= (p.Cys1240=) n.4973G= c.4682G= (p.Cys1561=) n.5171G= | |
2 | g.214980550C>G | CA350460923 | ABCA12 | c.4673G>C (p.Cys1558Ser) c.3719G>C (p.Cys1240Ser) n.4973G>C c.4682G>C (p.Cys1561Ser) n.5171G>C | |
2 | g.214980550C>T | CA350460925 | ABCA12 | c.4673G>A (p.Cys1558Tyr) c.3719G>A (p.Cys1240Tyr) n.4973G>A c.4682G>A (p.Cys1561Tyr) n.5171G>A | |
2 | g.214980551A>C | CA350460929 | ABCA12 | c.4672T>G (p.Cys1558Gly) c.3718T>G (p.Cys1240Gly) n.4972T>G c.4681T>G (p.Cys1561Gly) n.5170T>G | |
2 | g.214980551A>G | CA350460930 | ABCA12 | c.4672T>C (p.Cys1558Arg) c.3718T>C (p.Cys1240Arg) n.4972T>C c.4681T>C (p.Cys1561Arg) n.5170T>C | |
2 | g.214980551A>T | CA350460927 | ABCA12 | c.4672T>A (p.Cys1558Ser) c.3718T>A (p.Cys1240Ser) n.4972T>A c.4681T>A (p.Cys1561Ser) n.5170T>A | |
2 | g.214980552G>A | CA431148775 | ABCA12 | c.4671C>T (p.Cys1557=) c.3717C>T (p.Cys1239=) n.4971C>T c.4680C>T (p.Cys1560=) n.5169C>T | dbSNP |
2 | g.214980552G>C | CA350460935 | ABCA12 | c.4671C>G (p.Cys1557Trp) c.3717C>G (p.Cys1239Trp) n.4971C>G c.4680C>G (p.Cys1560Trp) n.5169C>G | |
2 | g.214980552G= | CA1327160995 | ABCA12 | c.4671C= (p.Cys1557=) c.3717C= (p.Cys1239=) n.4971C= c.4680C= (p.Cys1560=) n.5169C= | |
2 | g.214980552G>T | CA350460933 | ABCA12 | c.4671C>A (p.Cys1557Ter) c.3717C>A (p.Cys1239Ter) n.4971C>A c.4680C>A (p.Cys1560Ter) n.5169C>A | |
2 | g.214980553C>A | CA350460937 | ABCA12 | c.4670G>T (p.Cys1557Phe) c.3716G>T (p.Cys1239Phe) n.4970G>T c.4679G>T (p.Cys1560Phe) n.5168G>T | |
2 | g.214980553C= | CA1327160996 | ABCA12 | c.4670G= (p.Cys1557=) c.3716G= (p.Cys1239=) n.4970G= c.4679G= (p.Cys1560=) n.5168G= | |
2 | g.214980553C>G | CA350460939 | ABCA12 | c.4670G>C (p.Cys1557Ser) c.3716G>C (p.Cys1239Ser) n.4970G>C c.4679G>C (p.Cys1560Ser) n.5168G>C | |
2 | g.214980553C>T | CA350460941 | ABCA12 | c.4670G>A (p.Cys1557Tyr) c.3716G>A (p.Cys1239Tyr) n.4970G>A c.4679G>A (p.Cys1560Tyr) n.5168G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214980554A= | CA1327160997 | ABCA12 | c.4669T= (p.Cys1557=) c.3715T= (p.Cys1239=) n.4969T= c.4678T= (p.Cys1560=) n.5167T= | |
2 | g.214980554A>C | CA350460943 | ABCA12 | c.4669T>G (p.Cys1557Gly) c.3715T>G (p.Cys1239Gly) n.4969T>G c.4678T>G (p.Cys1560Gly) n.5167T>G | |
2 | g.214980554A>G | CA350460944 | ABCA12 | c.4669T>C (p.Cys1557Arg) c.3715T>C (p.Cys1239Arg) n.4969T>C c.4678T>C (p.Cys1560Arg) n.5167T>C | dbSNP |
2 | g.214980554A>T | CA350460946 | ABCA12 | c.4669T>A (p.Cys1557Ser) c.3715T>A (p.Cys1239Ser) n.4969T>A c.4678T>A (p.Cys1560Ser) n.5167T>A | |
2 | g.214980555C>A | CA350460948 | ABCA12 | c.4668G>T (p.Arg1556Ser) c.3714G>T (p.Arg1238Ser) n.4968G>T c.4677G>T (p.Arg1559Ser) n.5166G>T | gnomAD v4 |
2 | g.214980555C>G | CA350460949 | ABCA12 | c.4668G>C (p.Arg1556Ser) c.3714G>C (p.Arg1238Ser) n.4968G>C c.4677G>C (p.Arg1559Ser) n.5166G>C | |
2 | g.214980555C>T | CA431148784 | ABCA12 | c.4668G>A (p.Arg1556=) c.3714G>A (p.Arg1238=) n.4968G>A c.4677G>A (p.Arg1559=) n.5166G>A | |
2 | g.214980556C>A | CA350460952 | ABCA12 | c.4667G>T (p.Arg1556Met) c.3713G>T (p.Arg1238Met) n.4967G>T c.4676G>T (p.Arg1559Met) n.5165G>T | |
2 | g.214980556C= | CA1327160998 | ABCA12 | c.4667G= (p.Arg1556=) c.3713G= (p.Arg1238=) n.4967G= c.4676G= (p.Arg1559=) n.5165G= | |
2 | g.214980556C>G | CA350460954 | ABCA12 | c.4667G>C (p.Arg1556Thr) c.3713G>C (p.Arg1238Thr) n.4967G>C c.4676G>C (p.Arg1559Thr) n.5165G>C | gnomAD v4 |
2 | g.214980556C>T | CA350460955 | ABCA12 | c.4667G>A (p.Arg1556Lys) c.3713G>A (p.Arg1238Lys) n.4967G>A c.4676G>A (p.Arg1559Lys) n.5165G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214980557T>A | CA350460960 | ABCA12 | c.4666A>T (p.Arg1556Trp) c.3712A>T (p.Arg1238Trp) n.4966A>T c.4675A>T (p.Arg1559Trp) n.5164A>T | |
2 | g.214980557T>C | CA350460958 | ABCA12 | c.4666A>G (p.Arg1556Gly) c.3712A>G (p.Arg1238Gly) n.4966A>G c.4675A>G (p.Arg1559Gly) n.5164A>G | |
2 | g.214980557T>G | CA2091418 | ABCA12 | c.4666A>C (p.Arg1556=) c.3712A>C (p.Arg1238=) n.4966A>C c.4675A>C (p.Arg1559=) n.5164A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.214980557T= | CA1327160999 | ABCA12 | c.4666A= (p.Arg1556=) c.3712A= (p.Arg1238=) n.4966A= c.4675A= (p.Arg1559=) n.5164A= | |
2 | g.214980558A>C | CA431148790 | ABCA12 | c.4665T>G (p.Leu1555=) c.3711T>G (p.Leu1237=) n.4965T>G c.4674T>G (p.Leu1558=) n.5163T>G | |
2 | g.214980558A>G | CA431148791 | ABCA12 | c.4665T>C (p.Leu1555=) c.3711T>C (p.Leu1237=) n.4965T>C c.4674T>C (p.Leu1558=) n.5163T>C | gnomAD v4 |
2 | g.214980558A>T | CA431148797 | ABCA12 | c.4665T>A (p.Leu1555=) c.3711T>A (p.Leu1237=) n.4965T>A c.4674T>A (p.Leu1558=) n.5163T>A | |
2 | g.214980559A>C | CA350460963 | ABCA12 | c.4664T>G (p.Leu1555Arg) c.3710T>G (p.Leu1237Arg) n.4964T>G c.4673T>G (p.Leu1558Arg) n.5162T>G | COSMIC |
2 | g.214980559A>G | CA350460964 | ABCA12 | c.4664T>C (p.Leu1555Pro) c.3710T>C (p.Leu1237Pro) n.4964T>C c.4673T>C (p.Leu1558Pro) n.5162T>C | |
2 | g.214980559A>T | CA350460965 | ABCA12 | c.4664T>A (p.Leu1555His) c.3710T>A (p.Leu1237His) n.4964T>A c.4673T>A (p.Leu1558His) n.5162T>A | |
2 | g.214980560G>A | CA350460967 | ABCA12 | c.4663C>T (p.Leu1555Phe) c.3709C>T (p.Leu1237Phe) n.4963C>T c.4672C>T (p.Leu1558Phe) n.5161C>T | gnomAD v4 |
2 | g.214980560G>C | CA350460969 | ABCA12 | c.4663C>G (p.Leu1555Val) c.3709C>G (p.Leu1237Val) n.4963C>G c.4672C>G (p.Leu1558Val) n.5161C>G | |
2 | g.214980560G= | CA1327161000 | ABCA12 | c.4663C= (p.Leu1555=) c.3709C= (p.Leu1237=) n.4963C= c.4672C= (p.Leu1558=) n.5161C= | |
2 | g.214980560G>T | CA64814875 | ABCA12 | c.4663C>A (p.Leu1555Ile) c.3709C>A (p.Leu1237Ile) n.4963C>A c.4672C>A (p.Leu1558Ile) n.5161C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214980561C>A | CA431148811 | ABCA12 | c.4662G>T (p.Gly1554=) c.3708G>T (p.Gly1236=) n.4962G>T c.4671G>T (p.Gly1557=) n.5160G>T | |
2 | g.214980561C>G | CA431148813 | ABCA12 | c.4662G>C (p.Gly1554=) c.3708G>C (p.Gly1236=) n.4962G>C c.4671G>C (p.Gly1557=) n.5160G>C | |
2 | g.214980561C>T | CA431148814 | ABCA12 | c.4662G>A (p.Gly1554=) c.3708G>A (p.Gly1236=) n.4962G>A c.4671G>A (p.Gly1557=) n.5160G>A | |
2 | g.214980564_214980567del | CA2662978475 | ABCA12 | c.4659_4662del (p.Gly1554LeufsTer?) c.3705_3708del (p.Gly1236LeufsTer?) n.4959_4962del c.4668_4671del (p.Gly1557LeufsTer?) n.5157_5160del | gnomAD v4 |
2 | g.214980562C>A | CA350460972 | ABCA12 | c.4661G>T (p.Gly1554Val) c.3707G>T (p.Gly1236Val) n.4961G>T c.4670G>T (p.Gly1557Val) n.5159G>T | |
2 | g.214980562C>G | CA350460974 | ABCA12 | c.4661G>C (p.Gly1554Ala) c.3707G>C (p.Gly1236Ala) n.4961G>C c.4670G>C (p.Gly1557Ala) n.5159G>C | |
2 | g.214980562C>T | CA350460975 | ABCA12 | c.4661G>A (p.Gly1554Glu) c.3707G>A (p.Gly1236Glu) n.4961G>A c.4670G>A (p.Gly1557Glu) n.5159G>A | |
2 | g.214980563C>A | CA350460978 | ABCA12 | c.4660G>T (p.Gly1554Trp) c.3706G>T (p.Gly1236Trp) n.4960G>T c.4669G>T (p.Gly1557Trp) n.5158G>T | |
2 | g.214980563C= | CA1327161001 | ABCA12 | c.4660G= (p.Gly1554=) c.3706G= (p.Gly1236=) n.4960G= c.4669G= (p.Gly1557=) n.5158G= | |
2 | g.214980563C>G | CA350460980 | ABCA12 | c.4660G>C (p.Gly1554Arg) c.3706G>C (p.Gly1236Arg) n.4960G>C c.4669G>C (p.Gly1557Arg) n.5158G>C | |
2 | g.214980563C>T | CA2091419 | ABCA12 | c.4660G>A (p.Gly1554Arg) c.3706G>A (p.Gly1236Arg) n.4960G>A c.4669G>A (p.Gly1557Arg) n.5158G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214980564A>C | CA431148824 | ABCA12 | c.4659T>G (p.Gly1553=) c.3705T>G (p.Gly1235=) n.4959T>G c.4668T>G (p.Gly1556=) n.5157T>G | |
2 | g.214980564A>G | CA431148826 | ABCA12 | c.4659T>C (p.Gly1553=) c.3705T>C (p.Gly1235=) n.4959T>C c.4668T>C (p.Gly1556=) n.5157T>C | |
2 | g.214980564A>T | CA431148828 | ABCA12 | c.4659T>A (p.Gly1553=) c.3705T>A (p.Gly1235=) n.4959T>A c.4668T>A (p.Gly1556=) n.5157T>A | gnomAD v4 |
2 | g.214980565C>A | CA350460984 | ABCA12 | c.4658G>T (p.Gly1553Val) c.3704G>T (p.Gly1235Val) n.4958G>T c.4667G>T (p.Gly1556Val) n.5156G>T | |
2 | g.214980565C= | CA1327161002 | ABCA12 | c.4658G= (p.Gly1553=) c.3704G= (p.Gly1235=) n.4958G= c.4667G= (p.Gly1556=) n.5156G= | |
2 | g.214980565C>G | CA350460985 | ABCA12 | c.4658G>C (p.Gly1553Ala) c.3704G>C (p.Gly1235Ala) n.4958G>C c.4667G>C (p.Gly1556Ala) n.5156G>C | |
2 | g.214980565C>T | CA350460983 | ABCA12 | c.4658G>A (p.Gly1553Asp) c.3704G>A (p.Gly1235Asp) n.4958G>A c.4667G>A (p.Gly1556Asp) n.5156G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214980566C>A | CA350460988 | ABCA12 | c.4657G>T (p.Gly1553Cys) c.3703G>T (p.Gly1235Cys) n.4957G>T c.4666G>T (p.Gly1556Cys) n.5155G>T | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.214980566C= | CA1327161003 | ABCA12 | c.4657G= (p.Gly1553=) c.3703G= (p.Gly1235=) n.4957G= c.4666G= (p.Gly1556=) n.5155G= | |
2 | g.214980566C>G | CA350460990 | ABCA12 | c.4657G>C (p.Gly1553Arg) c.3703G>C (p.Gly1235Arg) n.4957G>C c.4666G>C (p.Gly1556Arg) n.5155G>C | dbSNP |
2 | g.214980566C>T | CA350460992 | ABCA12 | c.4657G>A (p.Gly1553Ser) c.3703G>A (p.Gly1235Ser) n.4957G>A c.4666G>A (p.Gly1556Ser) n.5155G>A | |
2 | g.214980567C>A | CA350460994 | ABCA12 | c.4656G>T (p.Gln1552His) c.3702G>T (p.Gln1234His) n.4956G>T c.4665G>T (p.Gln1555His) n.5154G>T | |
2 | g.214980567C>G | CA350460996 | ABCA12 | c.4656G>C (p.Gln1552His) c.3702G>C (p.Gln1234His) n.4956G>C c.4665G>C (p.Gln1555His) n.5154G>C | |
2 | g.214980567C>T | CA431148839 | ABCA12 | c.4656G>A (p.Gln1552=) c.3702G>A (p.Gln1234=) n.4956G>A c.4665G>A (p.Gln1555=) n.5154G>A | |
2 | g.214980568T>A | CA350460998 | ABCA12 | c.4655A>T (p.Gln1552Leu) c.3701A>T (p.Gln1234Leu) n.4955A>T c.4664A>T (p.Gln1555Leu) n.5153A>T | dbSNP |
2 | g.214980568T>C | CA2091420 | ABCA12 | c.4655A>G (p.Gln1552Arg) c.3701A>G (p.Gln1234Arg) n.4955A>G c.4664A>G (p.Gln1555Arg) n.5153A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214980568T>G | CA350461002 | ABCA12 | c.4655A>C (p.Gln1552Pro) c.3701A>C (p.Gln1234Pro) n.4955A>C c.4664A>C (p.Gln1555Pro) n.5153A>C | |
2 | g.214980568T= | CA1327161004 | ABCA12 | c.4655A= (p.Gln1552=) c.3701A= (p.Gln1234=) n.4955A= c.4664A= (p.Gln1555=) n.5153A= | |
2 | g.214980569G>A | CA350461003 | ABCA12 | c.4654C>T (p.Gln1552Ter) c.3700C>T (p.Gln1234Ter) n.4954C>T c.4663C>T (p.Gln1555Ter) n.5152C>T | |
2 | g.214980569G>C | CA350461005 | ABCA12 | c.4654C>G (p.Gln1552Glu) c.3700C>G (p.Gln1234Glu) n.4954C>G c.4663C>G (p.Gln1555Glu) n.5152C>G | |
2 | g.214980569G>T | CA350461007 | ABCA12 | c.4654C>A (p.Gln1552Lys) c.3700C>A (p.Gln1234Lys) n.4954C>A c.4663C>A (p.Gln1555Lys) n.5152C>A | |
2 | g.214980570C>A | CA2091421 | ABCA12 | c.4653G>T (p.Glu1551Asp) c.3699G>T (p.Glu1233Asp) n.4953G>T c.4662G>T (p.Glu1554Asp) n.5151G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214980570C= | CA1327161005 | ABCA12 | c.4653G= (p.Glu1551=) c.3699G= (p.Glu1233=) n.4953G= c.4662G= (p.Glu1554=) n.5151G= | |
2 | g.214980570C>G | CA350461009 | ABCA12 | c.4653G>C (p.Glu1551Asp) c.3699G>C (p.Glu1233Asp) n.4953G>C c.4662G>C (p.Glu1554Asp) n.5151G>C | |
2 | g.214980570C>T | CA431148845 | ABCA12 | c.4653G>A (p.Glu1551=) c.3699G>A (p.Glu1233=) n.4953G>A c.4662G>A (p.Glu1554=) n.5151G>A | ClinVar COSMIC COSMIC |
2 | g.214980571T>A | CA350461015 | ABCA12 | c.4652A>T (p.Glu1551Val) c.3698A>T (p.Glu1233Val) n.4952A>T c.4661A>T (p.Glu1554Val) n.5150A>T | |
2 | g.214980571T>C | CA350461012 | ABCA12 | c.4652A>G (p.Glu1551Gly) c.3698A>G (p.Glu1233Gly) n.4952A>G c.4661A>G (p.Glu1554Gly) n.5150A>G | |
2 | g.214980571T>G | CA350461011 | ABCA12 | c.4652A>C (p.Glu1551Ala) c.3698A>C (p.Glu1233Ala) n.4952A>C c.4661A>C (p.Glu1554Ala) n.5150A>C | |
2 | g.214980572C>A | CA350461016 | ABCA12 | c.4651G>T (p.Glu1551Ter) c.3697G>T (p.Glu1233Ter) n.4951G>T c.4660G>T (p.Glu1554Ter) n.5149G>T | |
2 | g.214980572C= | CA1327161006 | ABCA12 | c.4651G= (p.Glu1551=) c.3697G= (p.Glu1233=) n.4951G= c.4660G= (p.Glu1554=) n.5149G= | |
2 | g.214980572C>G | CA350461017 | ABCA12 | c.4651G>C (p.Glu1551Gln) c.3697G>C (p.Glu1233Gln) n.4951G>C c.4660G>C (p.Glu1554Gln) n.5149G>C | |
2 | g.214980572C>T | CA350461020 | ABCA12 | c.4651G>A (p.Glu1551Lys) c.3697G>A (p.Glu1233Lys) n.4951G>A c.4660G>A (p.Glu1554Lys) n.5149G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214980573C>A | CA431148856 | ABCA12 | c.4650G>T (p.Leu1550=) c.3696G>T (p.Leu1232=) n.4950G>T c.4659G>T (p.Leu1553=) n.5148G>T | |
2 | g.214980573C>G | CA431148857 | ABCA12 | c.4650G>C (p.Leu1550=) c.3696G>C (p.Leu1232=) n.4950G>C c.4659G>C (p.Leu1553=) n.5148G>C | gnomAD v4 |
2 | g.214980573C>T | CA431148859 | ABCA12 | c.4650G>A (p.Leu1550=) c.3696G>A (p.Leu1232=) n.4950G>A c.4659G>A (p.Leu1553=) n.5148G>A | |
2 | g.214980574A>C | CA350461022 | ABCA12 | c.4649T>G (p.Leu1550Arg) c.3695T>G (p.Leu1232Arg) n.4949T>G c.4658T>G (p.Leu1553Arg) n.5147T>G | |
2 | g.214980574A>G | CA350461023 | ABCA12 | c.4649T>C (p.Leu1550Pro) c.3695T>C (p.Leu1232Pro) n.4949T>C c.4658T>C (p.Leu1553Pro) n.5147T>C | |
2 | g.214980574A>T | CA350461025 | ABCA12 | c.4649T>A (p.Leu1550Gln) c.3695T>A (p.Leu1232Gln) n.4949T>A c.4658T>A (p.Leu1553Gln) n.5147T>A | |
2 | g.214980575G>A | CA431148863 | ABCA12 | c.4648C>T (p.Leu1550=) c.3694C>T (p.Leu1232=) n.4948C>T c.4657C>T (p.Leu1553=) n.5146C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214980575G>C | CA350461026 | ABCA12 | c.4648C>G (p.Leu1550Val) c.3694C>G (p.Leu1232Val) n.4948C>G c.4657C>G (p.Leu1553Val) n.5146C>G | |
2 | g.214980575G= | CA1327161007 | ABCA12 | c.4648C= (p.Leu1550=) c.3694C= (p.Leu1232=) n.4948C= c.4657C= (p.Leu1553=) n.5146C= | |
2 | g.214980575G>T | CA350461028 | ABCA12 | c.4648C>A (p.Leu1550Met) c.3694C>A (p.Leu1232Met) n.4948C>A c.4657C>A (p.Leu1553Met) n.5146C>A | |
2 | g.214980576G>A | CA431148865 | ABCA12 | c.4647C>T (p.Phe1549=) c.3693C>T (p.Phe1231=) n.4947C>T c.4656C>T (p.Phe1552=) n.5145C>T | |
2 | g.214980576G>C | CA350461029 | ABCA12 | c.4647C>G (p.Phe1549Leu) c.3693C>G (p.Phe1231Leu) n.4947C>G c.4656C>G (p.Phe1552Leu) n.5145C>G | |
2 | g.214980576G>T | CA350461031 | ABCA12 | c.4647C>A (p.Phe1549Leu) c.3693C>A (p.Phe1231Leu) n.4947C>A c.4656C>A (p.Phe1552Leu) n.5145C>A | |
2 | g.214980577A= | CA1327161008 | ABCA12 | c.4646T= (p.Phe1549=) c.3692T= (p.Phe1231=) n.4946T= c.4655T= (p.Phe1552=) n.5144T= | |
2 | g.214980577A>C | CA350461034 | ABCA12 | c.4646T>G (p.Phe1549Cys) c.3692T>G (p.Phe1231Cys) n.4946T>G c.4655T>G (p.Phe1552Cys) n.5144T>G | |
2 | g.214980577A>G | CA350461036 | ABCA12 | c.4646T>C (p.Phe1549Ser) c.3692T>C (p.Phe1231Ser) n.4946T>C c.4655T>C (p.Phe1552Ser) n.5144T>C | |
2 | g.214980577A>T | CA350461037 | ABCA12 | c.4646T>A (p.Phe1549Tyr) c.3692T>A (p.Phe1231Tyr) n.4946T>A c.4655T>A (p.Phe1552Tyr) n.5144T>A | |
2 | g.214980577_214980578insGGTAGTTGAAAACTTCCTAATAGCATATACATCTTGCACAGTATTTTT | CA2091422 | ABCA12 | c.4645_4646insAAAAATACTGTGCAAGATGTATATGCTATTAGGAAGTTTTCAACTACC (p.Phe1549Ter) c.3691_3692insAAAAATACTGTGCAAGATGTATATGCTATTAGGAAGTTTTCAACTACC (p.Phe1231Ter) n.4945_4946insAAAAATACTGTGCAAGATGTATATGCTATTAGGAAGTTTTCAACTACC c.4654_4655insAAAAATACTGTGCAAGATGTATATGCTATTAGGAAGTTTTCAACTACC (p.Phe1552Ter) n.5143_5144insAAAAATACTGTGCAAGATGTATATGCTATTAGGAAGTTTTCAACTACC | dbSNP ExAC |
2 | g.214980578A= | CA1327161009 | ABCA12 | c.4645T= (p.Phe1549=) c.3691T= (p.Phe1231=) n.4945T= c.4654T= (p.Phe1552=) n.5143T= | |
2 | g.214980578A>C | CA350461041 | ABCA12 | c.4645T>G (p.Phe1549Val) c.3691T>G (p.Phe1231Val) n.4945T>G c.4654T>G (p.Phe1552Val) n.5143T>G | |
2 | g.214980578A>G | CA2091423 | ABCA12 | c.4645T>C (p.Phe1549Leu) c.3691T>C (p.Phe1231Leu) n.4945T>C c.4654T>C (p.Phe1552Leu) n.5143T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214980578A>T | CA350461040 | ABCA12 | c.4645T>A (p.Phe1549Ile) c.3691T>A (p.Phe1231Ile) n.4945T>A c.4654T>A (p.Phe1552Ile) n.5143T>A | |
2 | g.214980579G>A | CA431148881 | ABCA12 | c.4644C>T (p.Ala1548=) c.3690C>T (p.Ala1230=) n.4944C>T c.4653C>T (p.Ala1551=) n.5142C>T | |
2 | g.214980579G>C | CA2091424 | ABCA12 | c.4644C>G (p.Ala1548=) c.3690C>G (p.Ala1230=) n.4944C>G c.4653C>G (p.Ala1551=) n.5142C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.214980579G= | CA1327161010 | ABCA12 | c.4644C= (p.Ala1548=) c.3690C= (p.Ala1230=) n.4944C= c.4653C= (p.Ala1551=) n.5142C= | |
2 | g.214980579G>T | CA431148883 | ABCA12 | c.4644C>A (p.Ala1548=) c.3690C>A (p.Ala1230=) n.4944C>A c.4653C>A (p.Ala1551=) n.5142C>A | |
2 | g.214980580G>A | CA350461046 | ABCA12 | c.4643C>T (p.Ala1548Val) c.3689C>T (p.Ala1230Val) n.4943C>T c.4652C>T (p.Ala1551Val) n.5141C>T | |
2 | g.214980580G>C | CA350461049 | ABCA12 | c.4643C>G (p.Ala1548Gly) c.3689C>G (p.Ala1230Gly) n.4943C>G c.4652C>G (p.Ala1551Gly) n.5141C>G | |
2 | g.214980580G>T | CA350461048 | ABCA12 | c.4643C>A (p.Ala1548Asp) c.3689C>A (p.Ala1230Asp) n.4943C>A c.4652C>A (p.Ala1551Asp) n.5141C>A | gnomAD v4 |
2 | g.214980581C>A | CA350461052 | ABCA12 | c.4642G>T (p.Ala1548Ser) c.3688G>T (p.Ala1230Ser) n.4942G>T c.4651G>T (p.Ala1551Ser) n.5140G>T | |
2 | g.214980581C= | CA1327161011 | ABCA12 | c.4642G= (p.Ala1548=) c.3688G= (p.Ala1230=) n.4942G= c.4651G= (p.Ala1551=) n.5140G= | |
2 | g.214980581C>G | CA350461054 | ABCA12 | c.4642G>C (p.Ala1548Pro) c.3688G>C (p.Ala1230Pro) n.4942G>C c.4651G>C (p.Ala1551Pro) n.5140G>C | |
2 | g.214980581C>T | CA2091425 | ABCA12 | c.4642G>A (p.Ala1548Thr) c.3688G>A (p.Ala1230Thr) n.4942G>A c.4651G>A (p.Ala1551Thr) n.5140G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214980582_214980590del | CA2662978476 | ABCA12 | c.4634_4642del (p.Asp1545_Ile1547del) c.3680_3688del (p.Asp1227_Ile1229del) n.4934_4942del c.4643_4651del (p.Asp1548_Ile1550del) n.5132_5140del | gnomAD v4 |