Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.69433077A>C | CA359927490 | MARVELD2 | c.1487A>C (p.His496Pro) c.1139A>C (p.His380Pro) c.1451A>C (p.His484Pro) | |
5 | g.69433077A>G | CA359927488 | MARVELD2 | c.1487A>G (p.His496Arg) c.1139A>G (p.His380Arg) c.1451A>G (p.His484Arg) | |
5 | g.69433077A>T | CA359927489 | MARVELD2 | c.1487A>T (p.His496Leu) c.1139A>T (p.His380Leu) c.1451A>T (p.His484Leu) | |
5 | g.69433078T>A | CA359927491 | MARVELD2 | c.1488T>A (p.His496Gln) c.1140T>A (p.His380Gln) c.1452T>A (p.His484Gln) | |
5 | g.69433078T>C | CA444794014 | MARVELD2 | c.1488T>C (p.His496=) c.1140T>C (p.His380=) c.1452T>C (p.His484=) | |
5 | g.69433078T>G | CA359927492 | MARVELD2 | c.1488T>G (p.His496Gln) c.1140T>G (p.His380Gln) c.1452T>G (p.His484Gln) | |
5 | g.69433079dup | CA2674131176 | MARVELD2 | c.1489dup (p.Ser497PhefsTer8) c.1141dup (p.Ser381PhefsTer8) c.1453dup (p.Ser485PhefsTer8) | gnomAD v4 |
5 | g.69433079T>A | CA359927493 | MARVELD2 | c.1489T>A (p.Ser497Thr) c.1141T>A (p.Ser381Thr) c.1453T>A (p.Ser485Thr) | |
5 | g.69433079T>C | CA359927494 | MARVELD2 | c.1489T>C (p.Ser497Pro) c.1141T>C (p.Ser381Pro) c.1453T>C (p.Ser485Pro) | |
5 | g.69433079T>G | CA359927495 | MARVELD2 | c.1489T>G (p.Ser497Ala) c.1141T>G (p.Ser381Ala) c.1453T>G (p.Ser485Ala) | gnomAD v4 |
5 | g.69433080C>A | CA359927496 | MARVELD2 | c.1490C>A (p.Ser497Ter) c.1142C>A (p.Ser381Ter) c.1454C>A (p.Ser485Ter) | |
5 | g.69433080C= | CA1553927557 | MARVELD2 | c.1490C= (p.Ser497=) c.1142C= (p.Ser381=) c.1454C= (p.Ser485=) | |
5 | g.69433080C>G | CA359927497 | MARVELD2 | c.1490C>G (p.Ser497Trp) c.1142C>G (p.Ser381Trp) c.1454C>G (p.Ser485Trp) | gnomAD v4 |
5 | g.69433080C>T | CA3294269 | MARVELD2 | c.1490C>T (p.Ser497Leu) c.1142C>T (p.Ser381Leu) c.1454C>T (p.Ser485Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69433081G>A | CA3294270 | MARVELD2 | c.1491G>A (p.Ser497=) c.1143G>A (p.Ser381=) c.1455G>A (p.Ser485=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69433081G>C | CA444794028 | MARVELD2 | c.1491G>C (p.Ser497=) c.1143G>C (p.Ser381=) c.1455G>C (p.Ser485=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69433081G= | CA1553927558 | MARVELD2 | c.1491G= (p.Ser497=) c.1143G= (p.Ser381=) c.1455G= (p.Ser485=) | |
5 | g.69433081G>T | CA444794027 | MARVELD2 | c.1491G>T (p.Ser497=) c.1143G>T (p.Ser381=) c.1455G>T (p.Ser485=) | gnomAD v4 |
5 | g.69433082G>A | CA359927498 | MARVELD2 | c.1492G>A (p.Glu498Lys) c.1144G>A (p.Glu382Lys) c.1456G>A (p.Glu486Lys) | COSMIC |
5 | g.69433082G>C | CA359927499 | MARVELD2 | c.1492G>C (p.Glu498Gln) c.1144G>C (p.Glu382Gln) c.1456G>C (p.Glu486Gln) | |
5 | g.69433082G>T | CA359927500 | MARVELD2 | c.1492G>T (p.Glu498Ter) c.1144G>T (p.Glu382Ter) c.1456G>T (p.Glu486Ter) | gnomAD v4 |
5 | g.69433083A>C | CA359927501 | MARVELD2 | c.1493A>C (p.Glu498Ala) c.1145A>C (p.Glu382Ala) c.1457A>C (p.Glu486Ala) | |
5 | g.69433083A>G | CA359927502 | MARVELD2 | c.1493A>G (p.Glu498Gly) c.1145A>G (p.Glu382Gly) c.1457A>G (p.Glu486Gly) | |
5 | g.69433083A>T | CA359927503 | MARVELD2 | c.1493A>T (p.Glu498Val) c.1145A>T (p.Glu382Val) c.1457A>T (p.Glu486Val) | |
5 | g.69433084A>C | CA359927504 | MARVELD2 | c.1494A>C (p.Glu498Asp) c.1146A>C (p.Glu382Asp) c.1458A>C (p.Glu486Asp) | |
5 | g.69433084A>G | CA444794037 | MARVELD2 | c.1494A>G (p.Glu498=) c.1146A>G (p.Glu382=) c.1458A>G (p.Glu486=) | |
5 | g.69433084A>T | CA359927505 | MARVELD2 | c.1494A>T (p.Glu498Asp) c.1146A>T (p.Glu382Asp) c.1458A>T (p.Glu486Asp) | |
5 | g.69433085A>C | CA359927506 | MARVELD2 | c.1495A>C (p.Ser499Arg) c.1147A>C (p.Ser383Arg) c.1459A>C (p.Ser487Arg) | gnomAD v4 |
5 | g.69433085A>G | CA359927507 | MARVELD2 | c.1495A>G (p.Ser499Gly) c.1147A>G (p.Ser383Gly) c.1459A>G (p.Ser487Gly) | |
5 | g.69433085A>T | CA359927508 | MARVELD2 | c.1495A>T (p.Ser499Cys) c.1147A>T (p.Ser383Cys) c.1459A>T (p.Ser487Cys) | |
5 | g.69433086G>A | CA359927510 | MARVELD2 | c.1496G>A (p.Ser499Asn) c.1148G>A (p.Ser383Asn) c.1460G>A (p.Ser487Asn) | gnomAD v4 |
5 | g.69433086G>C | CA359927511 | MARVELD2 | c.1496G>C (p.Ser499Thr) c.1148G>C (p.Ser383Thr) c.1460G>C (p.Ser487Thr) | |
5 | g.69433086G>T | CA359927509 | MARVELD2 | c.1496G>T (p.Ser499Ile) c.1148G>T (p.Ser383Ile) c.1460G>T (p.Ser487Ile) | |
5 | g.69433087C>A | CA359927513 | MARVELD2 | c.1497C>A (p.Ser499Arg) c.1149C>A (p.Ser383Arg) c.1461C>A (p.Ser487Arg) | |
5 | g.69433087C>G | CA359927512 | MARVELD2 | c.1497C>G (p.Ser499Arg) c.1149C>G (p.Ser383Arg) c.1461C>G (p.Ser487Arg) | |
5 | g.69433087C>T | CA444794046 | MARVELD2 | c.1497C>T (p.Ser499=) c.1149C>T (p.Ser383=) c.1461C>T (p.Ser487=) | |
5 | g.69433088C>A | CA444794050 | MARVELD2 | c.1498C>A (p.Arg500=) c.1150C>A (p.Arg384=) c.1462C>A (p.Arg488=) | |
5 | g.69433088C= | CA1553927559 | MARVELD2 | c.1498C= (p.Arg500=) c.1150C= (p.Arg384=) c.1462C= (p.Arg488=) | |
5 | g.69433088C>G | CA3294271 | MARVELD2 | c.1498C>G (p.Arg500Gly) c.1150C>G (p.Arg384Gly) c.1462C>G (p.Arg488Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.69433088C>T | CA114831 | MARVELD2 | c.1498C>T (p.Arg500Ter) c.1150C>T (p.Arg384Ter) c.1462C>T (p.Arg488Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69433088_69433089delinsCG | CA1553927561 | MARVELD2 | c.1498_1499delinsCG (p.Arg500=) c.1150_1151delinsCG (p.Arg384=) c.1462_1463delinsCG (p.Arg488=) | |
5 | g.69433088_69433115delinsCGACAGGTTAGTATGTGCAGCTGCCTAG | CA1553927560 | MARVELD2 | c.1498_1503+22delinsCGACAGGTTAGTATGTGCAGCTGCCTAG c.1150_1155+22delinsCGACAGGTTAGTATGTGCAGCTGCCTAG c.1462_1467+22delinsCGACAGGTTAGTATGTGCAGCTGCCTAG | |
5 | g.69433089del | CA120002658 | MARVELD2 | c.1499del (p.Arg500HisfsTer?) c.1151del (p.Arg384HisfsTer?) c.1463del (p.Arg488HisfsTer?) | dbSNP |
5 | g.69433089G>A | CA3294273 | MARVELD2 | c.1499G>A (p.Arg500Gln) c.1151G>A (p.Arg384Gln) c.1463G>A (p.Arg488Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.69433089G>C | CA359927514 | MARVELD2 | c.1499G>C (p.Arg500Pro) c.1151G>C (p.Arg384Pro) c.1463G>C (p.Arg488Pro) | |
5 | g.69433089G= | CA1553927562 | MARVELD2 | c.1499G= (p.Arg500=) c.1151G= (p.Arg384=) c.1463G= (p.Arg488=) | |
5 | g.69433089G>T | CA359927515 | MARVELD2 | c.1499G>T (p.Arg500Leu) c.1151G>T (p.Arg384Leu) c.1463G>T (p.Arg488Leu) | dbSNP gnomAD v4 |
5 | g.69433091_69433117del | CA3294272 | MARVELD2 | c.1501_1503+24del c.1153_1155+24del c.1465_1467+24del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69433090A>C | CA444794060 | MARVELD2 | c.1500A>C (p.Arg500=) c.1152A>C (p.Arg384=) c.1464A>C (p.Arg488=) | |
5 | g.69433090A>G | CA444794064 | MARVELD2 | c.1500A>G (p.Arg500=) c.1152A>G (p.Arg384=) c.1464A>G (p.Arg488=) | |
5 | g.69433090A>T | CA444794062 | MARVELD2 | c.1500A>T (p.Arg500=) c.1152A>T (p.Arg384=) c.1464A>T (p.Arg488=) | |
5 | g.69433091C>A | CA359927516 | MARVELD2 | c.1501C>A (p.Gln501Lys) c.1153C>A (p.Gln385Lys) c.1465C>A (p.Gln489Lys) | |
5 | g.69433091C>G | CA359927517 | MARVELD2 | c.1501C>G (p.Gln501Glu) c.1153C>G (p.Gln385Glu) c.1465C>G (p.Gln489Glu) | |
5 | g.69433091C>T | CA359927518 | MARVELD2 | c.1501C>T (p.Gln501Ter) c.1153C>T (p.Gln385Ter) c.1465C>T (p.Gln489Ter) | |
5 | g.69433092A>C | CA359927519 | MARVELD2 | c.1502A>C (p.Gln501Pro) c.1154A>C (p.Gln385Pro) c.1466A>C (p.Gln489Pro) | |
5 | g.69433092A>G | CA359927520 | MARVELD2 | c.1502A>G (p.Gln501Arg) c.1154A>G (p.Gln385Arg) c.1466A>G (p.Gln489Arg) | |
5 | g.69433092A>T | CA359927521 | MARVELD2 | c.1502A>T (p.Gln501Leu) c.1154A>T (p.Gln385Leu) c.1466A>T (p.Gln489Leu) | |
5 | g.69433093G>A | CA444794068 | MARVELD2 | c.1503G>A (p.Gln501=) c.1155G>A (p.Gln385=) c.1467G>A (p.Gln489=) | |
5 | g.69433093G>C | CA359927522 | MARVELD2 | c.1503G>C (p.Gln501His) c.1155G>C (p.Gln385His) c.1467G>C (p.Gln489His) | |
5 | g.69433093G>T | CA359927523 | MARVELD2 | c.1503G>T (p.Gln501His) c.1155G>T (p.Gln385His) c.1467G>T (p.Gln489His) | gnomAD v4 |
5 | g.69433094G>A | CA359927526 | MARVELD2 | c.1503+1G>A (n.1503+1G>A) c.1155+1G>A (n.1155+1G>A) c.1467+1G>A (n.1467+1G>A) | dbSNP |
5 | g.69433094G>C | CA359927524 | MARVELD2 | c.1503+1G>C (n.1503+1G>C) c.1155+1G>C (n.1155+1G>C) c.1467+1G>C (n.1467+1G>C) | gnomAD v4 |
5 | g.69433094G= | CA1553927563 | MARVELD2 | c.1503+1G= (n.1503+1G=) c.1155+1G= (n.1155+1G=) c.1467+1G= (n.1467+1G=) | |
5 | g.69433094G>T | CA359927525 | MARVELD2 | c.1503+1G>T (n.1503+1G>T) c.1155+1G>T (n.1155+1G>T) c.1467+1G>T (n.1467+1G>T) | |
5 | g.69433095T>A | CA359927527 | MARVELD2 | c.1503+2T>A (n.1503+2T>A) c.1155+2T>A (n.1155+2T>A) c.1467+2T>A (n.1467+2T>A) | |
5 | g.69433095T>C | CA359927528 | MARVELD2 | c.1503+2T>C (n.1503+2T>C) c.1155+2T>C (n.1155+2T>C) c.1467+2T>C (n.1467+2T>C) | |
5 | g.69433095T>G | CA359927529 | MARVELD2 | c.1503+2T>G (n.1503+2T>G) c.1155+2T>G (n.1155+2T>G) c.1467+2T>G (n.1467+2T>G) | |
5 | g.69433097A>C | CA2578329445 | MARVELD2 | c.1503+4A>C (n.1503+4A>C) c.1155+4A>C (n.1155+4A>C) c.1467+4A>C (n.1467+4A>C) | |
5 | g.69433098G>A | CA3294274 | MARVELD2 | c.1503+5G>A (n.1503+5G>A) c.1155+5G>A (n.1155+5G>A) c.1467+5G>A (n.1467+5G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69433098G= | CA1553927564 | MARVELD2 | c.1503+5G= (n.1503+5G=) c.1155+5G= (n.1155+5G=) c.1467+5G= (n.1467+5G=) | |
5 | g.69433100A= | CA1553927565 | MARVELD2 | c.1503+7A= (n.1503+7A=) c.1155+7A= (n.1155+7A=) c.1467+7A= (n.1467+7A=) | |
5 | g.69433100A>G | CA1553927566 | MARVELD2 | c.1503+7A>G (n.1503+7A>G) c.1155+7A>G (n.1155+7A>G) c.1467+7A>G (n.1467+7A>G) | dbSNP gnomAD v4 |
5 | g.69433101T>G | CA2674131177 | MARVELD2 | c.1503+8T>G (n.1503+8T>G) c.1155+8T>G (n.1155+8T>G) c.1467+8T>G (n.1467+8T>G) | gnomAD v4 |
5 | g.69433104G= | CA1553927567 | MARVELD2 | c.1503+11G= (n.1503+11G=) c.1155+11G= (n.1155+11G=) c.1467+11G= (n.1467+11G=) | |
5 | g.69433104G>T | CA560299429 | MARVELD2 | c.1503+11G>T (n.1503+11G>T) c.1155+11G>T (n.1155+11G>T) c.1467+11G>T (n.1467+11G>T) | dbSNP gnomAD v2 |
5 | g.69433106_69433108del | CA2674131178 | MARVELD2 | c.1503+13_1503+15del (n.1503+13_1503+15del) c.1155+13_1155+15del (n.1155+13_1155+15del) c.1467+13_1467+15del (n.1467+13_1467+15del) | gnomAD v4 |
5 | g.69433105C>T | CA2674131179 | MARVELD2 | c.1503+12C>T (n.1503+12C>T) c.1155+12C>T (n.1155+12C>T) c.1467+12C>T (n.1467+12C>T) | gnomAD v4 |
5 | g.69433106A>G | CA2578329446 | MARVELD2 | c.1503+13A>G (n.1503+13A>G) c.1155+13A>G (n.1155+13A>G) c.1467+13A>G (n.1467+13A>G) | gnomAD v4 |
5 | g.69433106A>T | CA2674131180 | MARVELD2 | c.1503+13A>T (n.1503+13A>T) c.1155+13A>T (n.1155+13A>T) c.1467+13A>T (n.1467+13A>T) | gnomAD v4 |
5 | g.69433107G>A | CA2674131181 | MARVELD2 | c.1503+14G>A (n.1503+14G>A) c.1155+14G>A (n.1155+14G>A) c.1467+14G>A (n.1467+14G>A) | gnomAD v4 |
5 | g.69433110G>A | CA2674131182 | MARVELD2 | c.1503+17G>A (n.1503+17G>A) c.1155+17G>A (n.1155+17G>A) c.1467+17G>A (n.1467+17G>A) | gnomAD v4 |
5 | g.69433112C>A | CA2674131183 | MARVELD2 | c.1503+19C>A (n.1503+19C>A) c.1155+19C>A (n.1155+19C>A) c.1467+19C>A (n.1467+19C>A) | gnomAD v4 |
5 | g.69433112C= | CA1553927568 | MARVELD2 | c.1503+19C= (n.1503+19C=) c.1155+19C= (n.1155+19C=) c.1467+19C= (n.1467+19C=) | |
5 | g.69433112C>G | CA560299430 | MARVELD2 | c.1503+19C>G (n.1503+19C>G) c.1155+19C>G (n.1155+19C>G) c.1467+19C>G (n.1467+19C>G) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.69433112C>T | CA2578329447 | MARVELD2 | c.1503+19C>T (n.1503+19C>T) c.1155+19C>T (n.1155+19C>T) c.1467+19C>T (n.1467+19C>T) | |
5 | g.69433113T>C | CA2674131184 | MARVELD2 | c.1503+20T>C (n.1503+20T>C) c.1155+20T>C (n.1155+20T>C) c.1467+20T>C (n.1467+20T>C) | gnomAD v4 |
5 | g.69433114A= | CA1553927569 | MARVELD2 | c.1503+21A= (n.1503+21A=) c.1155+21A= (n.1155+21A=) c.1467+21A= (n.1467+21A=) | |
5 | g.69433114A>G | CA3294275 | MARVELD2 | c.1503+21A>G (n.1503+21A>G) c.1155+21A>G (n.1155+21A>G) c.1467+21A>G (n.1467+21A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.69433114A>T | CA1553927570 | MARVELD2 | c.1503+21A>T (n.1503+21A>T) c.1155+21A>T (n.1155+21A>T) c.1467+21A>T (n.1467+21A>T) | dbSNP |
5 | g.69433115G>A | CA2674131185 | MARVELD2 | c.1503+22G>A (n.1503+22G>A) c.1155+22G>A (n.1155+22G>A) c.1467+22G>A (n.1467+22G>A) | gnomAD v4 |
5 | g.69433115G>C | CA813512847 | MARVELD2 | c.1503+22G>C (n.1503+22G>C) c.1155+22G>C (n.1155+22G>C) c.1467+22G>C (n.1467+22G>C) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433115G= | CA1553927571 | MARVELD2 | c.1503+22G= (n.1503+22G=) c.1155+22G= (n.1155+22G=) c.1467+22G= (n.1467+22G=) | |
5 | g.69433116G>C | CA560299431 | MARVELD2 | c.1503+23G>C (n.1503+23G>C) c.1155+23G>C (n.1155+23G>C) c.1467+23G>C (n.1467+23G>C) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.69433116G= | CA1553927572 | MARVELD2 | c.1503+23G= (n.1503+23G=) c.1155+23G= (n.1155+23G=) c.1467+23G= (n.1467+23G=) | |
5 | g.69433117del | CA2674131186 | MARVELD2 | c.1503+24del (n.1503+24del) c.1155+24del (n.1155+24del) c.1467+24del (n.1467+24del) | gnomAD v4 |
5 | g.69433117A>G | CA2709350544 | MARVELD2 | c.1503+24A>G (n.1503+24A>G) c.1155+24A>G (n.1155+24A>G) c.1467+24A>G (n.1467+24A>G) | dbSNP |
5 | g.69433118G>A | CA1553927574 | MARVELD2 | c.1503+25G>A (n.1503+25G>A) c.1155+25G>A (n.1155+25G>A) c.1467+25G>A (n.1467+25G>A) | dbSNP gnomAD v4 |
5 | g.69433118G= | CA1553927573 | MARVELD2 | c.1503+25G= (n.1503+25G=) c.1155+25G= (n.1155+25G=) c.1467+25G= (n.1467+25G=) | |
5 | g.69433119dup | CA2674131187 | MARVELD2 | c.1503+26dup (n.1503+26dup) c.1155+26dup (n.1155+26dup) c.1467+26dup (n.1467+26dup) | gnomAD v4 |
5 | g.69433119G>T | CA2674131188 | MARVELD2 | c.1503+26G>T (n.1503+26G>T) c.1155+26G>T (n.1155+26G>T) c.1467+26G>T (n.1467+26G>T) | gnomAD v4 |
5 | g.69433120A= | CA1553927575 | MARVELD2 | c.1503+27A= (n.1503+27A=) c.1155+27A= (n.1155+27A=) c.1467+27A= (n.1467+27A=) | |
5 | g.69433120A>G | CA1077201589 | MARVELD2 | c.1503+27A>G (n.1503+27A>G) c.1155+27A>G (n.1155+27A>G) c.1467+27A>G (n.1467+27A>G) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433120A>T | CA2674131189 | MARVELD2 | c.1503+27A>T (n.1503+27A>T) c.1155+27A>T (n.1155+27A>T) c.1467+27A>T (n.1467+27A>T) | gnomAD v4 |
5 | g.69433121G>A | CA2674131190 | MARVELD2 | c.1503+28G>A (n.1503+28G>A) c.1155+28G>A (n.1155+28G>A) c.1467+28G>A (n.1467+28G>A) | gnomAD v4 |
5 | g.69433122C>A | CA1077201595 | MARVELD2 | c.1503+29C>A (n.1503+29C>A) c.1155+29C>A (n.1155+29C>A) c.1467+29C>A (n.1467+29C>A) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433122C= | CA1553927576 | MARVELD2 | c.1503+29C= (n.1503+29C=) c.1155+29C= (n.1155+29C=) c.1467+29C= (n.1467+29C=) | |
5 | g.69433122C>G | CA560299432 | MARVELD2 | c.1503+29C>G (n.1503+29C>G) c.1155+29C>G (n.1155+29C>G) c.1467+29C>G (n.1467+29C>G) | gnomAD v2 |
5 | g.69433122C>T | CA2674131191 | MARVELD2 | c.1503+29C>T (n.1503+29C>T) c.1155+29C>T (n.1155+29C>T) c.1467+29C>T (n.1467+29C>T) | gnomAD v4 |
5 | g.69433123A= | CA1553927577 | MARVELD2 | c.1503+30A= (n.1503+30A=) c.1155+30A= (n.1155+30A=) c.1467+30A= (n.1467+30A=) | |
5 | g.69433123A>G | CA3294277 | MARVELD2 | c.1503+30A>G (n.1503+30A>G) c.1155+30A>G (n.1155+30A>G) c.1467+30A>G (n.1467+30A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69433123dup | CA3294276 | MARVELD2 | c.1503+30dup (n.1503+30dup) c.1155+30dup (n.1155+30dup) c.1467+30dup (n.1467+30dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.69433124C>A | CA2674131192 | MARVELD2 | c.1503+31C>A (n.1503+31C>A) c.1155+31C>A (n.1155+31C>A) c.1467+31C>A (n.1467+31C>A) | gnomAD v4 |
5 | g.69433124C>T | CA2563895522 | MARVELD2 | c.1503+31C>T (n.1503+31C>T) c.1155+31C>T (n.1155+31C>T) c.1467+31C>T (n.1467+31C>T) | |
5 | g.69433125T>A | CA2674131193 | MARVELD2 | c.1503+32T>A (n.1503+32T>A) c.1155+32T>A (n.1155+32T>A) c.1467+32T>A (n.1467+32T>A) | gnomAD v4 |
5 | g.69433125T>C | CA2674131194 | MARVELD2 | c.1503+32T>C (n.1503+32T>C) c.1155+32T>C (n.1155+32T>C) c.1467+32T>C (n.1467+32T>C) | gnomAD v4 |
5 | g.69433126G>A | CA3294278 | MARVELD2 | c.1503+33G>A (n.1503+33G>A) c.1155+33G>A (n.1155+33G>A) c.1467+33G>A (n.1467+33G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69433126G= | CA1553927578 | MARVELD2 | c.1503+33G= (n.1503+33G=) c.1155+33G= (n.1155+33G=) c.1467+33G= (n.1467+33G=) | |
5 | g.69433126G>T | CA2578329448 | MARVELD2 | c.1503+33G>T (n.1503+33G>T) c.1155+33G>T (n.1155+33G>T) c.1467+33G>T (n.1467+33G>T) | gnomAD v4 |
5 | g.69433127A>G | CA2674131195 | MARVELD2 | c.1503+34A>G (n.1503+34A>G) c.1155+34A>G (n.1155+34A>G) c.1467+34A>G (n.1467+34A>G) | gnomAD v4 |
5 | g.69433128A>G | CA2674131196 | MARVELD2 | c.1503+35A>G (n.1503+35A>G) c.1155+35A>G (n.1155+35A>G) c.1467+35A>G (n.1467+35A>G) | gnomAD v4 |
5 | g.69433128_69433129insC | CA2533461951 | MARVELD2 | c.1503+35_1503+36insC (n.1503+35_1503+36insC) c.1155+35_1155+36insC (n.1155+35_1155+36insC) c.1467+35_1467+36insC (n.1467+35_1467+36insC) | |
5 | g.69433129A>T | CA2510706431 | MARVELD2 | c.1503+36A>T (n.1503+36A>T) c.1155+36A>T (n.1155+36A>T) c.1467+36A>T (n.1467+36A>T) | |
5 | g.69433130T>A | CA2674131198 | MARVELD2 | c.1503+37T>A (n.1503+37T>A) c.1155+37T>A (n.1155+37T>A) c.1467+37T>A (n.1467+37T>A) | gnomAD v4 |
5 | g.69433130T>C | CA2674131197 | MARVELD2 | c.1503+37T>C (n.1503+37T>C) c.1155+37T>C (n.1155+37T>C) c.1467+37T>C (n.1467+37T>C) | gnomAD v4 |
5 | g.69433131C>A | CA2578329449 | MARVELD2 | c.1503+38C>A (n.1503+38C>A) c.1155+38C>A (n.1155+38C>A) c.1467+38C>A (n.1467+38C>A) | gnomAD v4 |
5 | g.69433131C= | CA1553927579 | MARVELD2 | c.1503+38C= (n.1503+38C=) c.1155+38C= (n.1155+38C=) c.1467+38C= (n.1467+38C=) | |
5 | g.69433131C>G | CA120002716 | MARVELD2 | c.1503+38C>G (n.1503+38C>G) c.1155+38C>G (n.1155+38C>G) c.1467+38C>G (n.1467+38C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69433131C>T | CA1077201601 | MARVELD2 | c.1503+38C>T (n.1503+38C>T) c.1155+38C>T (n.1155+38C>T) c.1467+38C>T (n.1467+38C>T) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433132T>C | CA2674131200 | MARVELD2 | c.1503+39T>C (n.1503+39T>C) c.1155+39T>C (n.1155+39T>C) c.1467+39T>C (n.1467+39T>C) | gnomAD v4 |
5 | g.69433133A>G | CA2674131201 | MARVELD2 | c.1503+40A>G (n.1503+40A>G) c.1155+40A>G (n.1155+40A>G) c.1467+40A>G (n.1467+40A>G) | gnomAD v4 |
5 | g.69433133A>T | CA2578329450 | MARVELD2 | c.1503+40A>T (n.1503+40A>T) c.1155+40A>T (n.1155+40A>T) c.1467+40A>T (n.1467+40A>T) | gnomAD v4 |
5 | g.69433134G>A | CA2674131202 | MARVELD2 | c.1503+41G>A (n.1503+41G>A) c.1155+41G>A (n.1155+41G>A) c.1467+41G>A (n.1467+41G>A) | gnomAD v4 |
5 | g.69433134G>T | CA2674131203 | MARVELD2 | c.1503+41G>T (n.1503+41G>T) c.1155+41G>T (n.1155+41G>T) c.1467+41G>T (n.1467+41G>T) | gnomAD v4 |
5 | g.69433136_69433138del | CA2578329451 | MARVELD2 | c.1503+43_1503+45del (n.1503+43_1503+45del) c.1155+43_1155+45del (n.1155+43_1155+45del) c.1467+43_1467+45del (n.1467+43_1467+45del) | |
5 | g.69433135A>C | CA2674131205 | MARVELD2 | c.1503+42A>C (n.1503+42A>C) c.1155+42A>C (n.1155+42A>C) c.1467+42A>C (n.1467+42A>C) | gnomAD v4 |
5 | g.69433135A>G | CA1077201605 | MARVELD2 | c.1503+42A>G (n.1503+42A>G) c.1155+42A>G (n.1155+42A>G) c.1467+42A>G (n.1467+42A>G) | gnomAD v3 gnomAD v4 |
5 | g.69433135A>T | CA2578329452 | MARVELD2 | c.1503+42A>T (n.1503+42A>T) c.1155+42A>T (n.1155+42A>T) c.1467+42A>T (n.1467+42A>T) | gnomAD v3 gnomAD v4 |
5 | g.69433136G>A | CA2674131206 | MARVELD2 | c.1503+43G>A (n.1503+43G>A) c.1155+43G>A (n.1155+43G>A) c.1467+43G>A (n.1467+43G>A) | gnomAD v4 |
5 | g.69433136G>T | CA2674131207 | MARVELD2 | c.1503+43G>T (n.1503+43G>T) c.1155+43G>T (n.1155+43G>T) c.1467+43G>T (n.1467+43G>T) | gnomAD v4 |
5 | g.69433137G>A | CA2578329453 | MARVELD2 | c.1503+44G>A (n.1503+44G>A) c.1155+44G>A (n.1155+44G>A) c.1467+44G>A (n.1467+44G>A) | gnomAD v4 |
5 | g.69433137G>C | CA2674131210 | MARVELD2 | c.1503+44G>C (n.1503+44G>C) c.1155+44G>C (n.1155+44G>C) c.1467+44G>C (n.1467+44G>C) | gnomAD v4 |
5 | g.69433137G>T | CA2674131208 | MARVELD2 | c.1503+44G>T (n.1503+44G>T) c.1155+44G>T (n.1155+44G>T) c.1467+44G>T (n.1467+44G>T) | gnomAD v4 |
5 | g.69433138A= | CA1553927580 | MARVELD2 | c.1503+45A= (n.1503+45A=) c.1155+45A= (n.1155+45A=) c.1467+45A= (n.1467+45A=) | |
5 | g.69433138A>C | CA2674131214 | MARVELD2 | c.1503+45A>C (n.1503+45A>C) c.1155+45A>C (n.1155+45A>C) c.1467+45A>C (n.1467+45A>C) | gnomAD v4 |
5 | g.69433138A>G | CA2578329454 | MARVELD2 | c.1503+45A>G (n.1503+45A>G) c.1155+45A>G (n.1155+45A>G) c.1467+45A>G (n.1467+45A>G) | |
5 | g.69433138A>T | CA120002719 | MARVELD2 | c.1503+45A>T (n.1503+45A>T) c.1155+45A>T (n.1155+45A>T) c.1467+45A>T (n.1467+45A>T) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433139T>A | CA2674131215 | MARVELD2 | c.1503+46T>A (n.1503+46T>A) c.1155+46T>A (n.1155+46T>A) c.1467+46T>A (n.1467+46T>A) | gnomAD v4 |
5 | g.69433139T>C | CA2674131217 | MARVELD2 | c.1503+46T>C (n.1503+46T>C) c.1155+46T>C (n.1155+46T>C) c.1467+46T>C (n.1467+46T>C) | gnomAD v4 |
5 | g.69433139T>G | CA2832175492 | MARVELD2 | c.1503+46T>G (n.1503+46T>G) c.1155+46T>G (n.1155+46T>G) c.1467+46T>G (n.1467+46T>G) | |
5 | g.69433140G>A | CA2674131218 | MARVELD2 | c.1503+47G>A (n.1503+47G>A) c.1155+47G>A (n.1155+47G>A) c.1467+47G>A (n.1467+47G>A) | gnomAD v4 |
5 | g.69433140G>C | CA2674131219 | MARVELD2 | c.1503+47G>C (n.1503+47G>C) c.1155+47G>C (n.1155+47G>C) c.1467+47G>C (n.1467+47G>C) | gnomAD v4 |
5 | g.69433140G>T | CA1077201606 | MARVELD2 | c.1503+47G>T (n.1503+47G>T) c.1155+47G>T (n.1155+47G>T) c.1467+47G>T (n.1467+47G>T) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433141A>G | CA2674131220 | MARVELD2 | c.1503+48A>G (n.1503+48A>G) c.1155+48A>G (n.1155+48A>G) c.1467+48A>G (n.1467+48A>G) | gnomAD v4 |
5 | g.69433141A>T | CA2674131221 | MARVELD2 | c.1503+48A>T (n.1503+48A>T) c.1155+48A>T (n.1155+48A>T) c.1467+48A>T (n.1467+48A>T) | gnomAD v4 |
5 | g.69433142A>G | CA2578329455 | MARVELD2 | c.1503+49A>G (n.1503+49A>G) c.1155+49A>G (n.1155+49A>G) c.1467+49A>G (n.1467+49A>G) | gnomAD v4 |
5 | g.69433143T>A | CA1077201608 | MARVELD2 | c.1503+50T>A (n.1503+50T>A) c.1155+50T>A (n.1155+50T>A) c.1467+50T>A (n.1467+50T>A) | gnomAD v3 gnomAD v4 |
5 | g.69433143T>G | CA2831379996 | MARVELD2 | c.1503+50T>G (n.1503+50T>G) c.1155+50T>G (n.1155+50T>G) c.1467+50T>G (n.1467+50T>G) | |
5 | g.69433143_69433145delinsTAA | CA1553927581 | MARVELD2 | c.1503+50_1503+52delinsTAA (n.1503+50_1503+52delinsTAA) c.1155+50_1155+52delinsTAA (n.1155+50_1155+52delinsTAA) c.1467+50_1467+52delinsTAA (n.1467+50_1467+52delinsTAA) | |
5 | g.69433144A= | CA1553927582 | MARVELD2 | c.1503+51A= (n.1503+51A=) c.1155+51A= (n.1155+51A=) c.1467+51A= (n.1467+51A=) | |
5 | g.69433144A>C | CA3294280 | MARVELD2 | c.1503+51A>C (n.1503+51A>C) c.1155+51A>C (n.1155+51A>C) c.1467+51A>C (n.1467+51A>C) | dbSNP ExAC |
5 | g.69433144A>T | CA2674131225 | MARVELD2 | c.1503+51A>T (n.1503+51A>T) c.1155+51A>T (n.1155+51A>T) c.1467+51A>T (n.1467+51A>T) | gnomAD v4 |
5 | g.69433146_69433147del | CA3294279 | MARVELD2 | c.1503+53_1503+54del (n.1503+53_1503+54del) c.1155+53_1155+54del (n.1155+53_1155+54del) c.1467+53_1467+54del (n.1467+53_1467+54del) | dbSNP ExAC |
5 | g.69433145A= | CA1553927583 | MARVELD2 | c.1503+52A= (n.1503+52A=) c.1155+52A= (n.1155+52A=) c.1467+52A= (n.1467+52A=) | |
5 | g.69433145A>C | CA560299433 | MARVELD2 | c.1503+52A>C (n.1503+52A>C) c.1155+52A>C (n.1155+52A>C) c.1467+52A>C (n.1467+52A>C) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.69433147A>T | CA2766864498 | MARVELD2 | c.1503+54A>T (n.1503+54A>T) c.1155+54A>T (n.1155+54A>T) c.1467+54A>T (n.1467+54A>T) | |
5 | g.69433148T>A | CA2578329456 | MARVELD2 | c.1503+55T>A (n.1503+55T>A) c.1155+55T>A (n.1155+55T>A) c.1467+55T>A (n.1467+55T>A) | gnomAD v4 |
5 | g.69433148T>C | CA2674131230 | MARVELD2 | c.1503+55T>C (n.1503+55T>C) c.1155+55T>C (n.1155+55T>C) c.1467+55T>C (n.1467+55T>C) | gnomAD v4 |
5 | g.69433149C>A | CA2578329457 | MARVELD2 | c.1503+56C>A (n.1503+56C>A) c.1155+56C>A (n.1155+56C>A) c.1467+56C>A (n.1467+56C>A) | gnomAD v4 |
5 | g.69433149C>G | CA2674131232 | MARVELD2 | c.1503+56C>G (n.1503+56C>G) c.1155+56C>G (n.1155+56C>G) c.1467+56C>G (n.1467+56C>G) | gnomAD v4 |
5 | g.69433149C>T | CA1077201610 | MARVELD2 | c.1503+56C>T (n.1503+56C>T) c.1155+56C>T (n.1155+56C>T) c.1467+56C>T (n.1467+56C>T) | gnomAD v3 gnomAD v4 |
5 | g.69433150T>A | CA2674131235 | MARVELD2 | c.1503+57T>A (n.1503+57T>A) c.1155+57T>A (n.1155+57T>A) c.1467+57T>A (n.1467+57T>A) | gnomAD v4 |
5 | g.69433150T>C | CA2674131236 | MARVELD2 | c.1503+57T>C (n.1503+57T>C) c.1155+57T>C (n.1155+57T>C) c.1467+57T>C (n.1467+57T>C) | gnomAD v4 |
5 | g.69433150T>G | CA2674131238 | MARVELD2 | c.1503+57T>G (n.1503+57T>G) c.1155+57T>G (n.1155+57T>G) c.1467+57T>G (n.1467+57T>G) | gnomAD v4 |
5 | g.69433151G>T | CA1077201614 | MARVELD2 | c.1503+58G>T (n.1503+58G>T) c.1155+58G>T (n.1155+58G>T) c.1467+58G>T (n.1467+58G>T) | gnomAD v3 gnomAD v4 |
5 | g.69433152dup | CA2674131241 | MARVELD2 | c.1503+59dup (n.1503+59dup) c.1155+59dup (n.1155+59dup) c.1467+59dup (n.1467+59dup) | gnomAD v4 |
5 | g.69433152G>A | CA813512848 | MARVELD2 | c.1503+59G>A (n.1503+59G>A) c.1155+59G>A (n.1155+59G>A) c.1467+59G>A (n.1467+59G>A) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433152G>C | CA2674131244 | MARVELD2 | c.1503+59G>C (n.1503+59G>C) c.1155+59G>C (n.1155+59G>C) c.1467+59G>C (n.1467+59G>C) | gnomAD v4 |
5 | g.69433152G= | CA1553927585 | MARVELD2 | c.1503+59G= (n.1503+59G=) c.1155+59G= (n.1155+59G=) c.1467+59G= (n.1467+59G=) | |
5 | g.69433152G>T | CA560299434 | MARVELD2 | c.1503+59G>T (n.1503+59G>T) c.1155+59G>T (n.1155+59G>T) c.1467+59G>T (n.1467+59G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69433152_69433156delinsGCTTT | CA1553927584 | MARVELD2 | c.1503+59_1503+63delinsGCTTT (n.1503+59_1503+63delinsGCTTT) c.1155+59_1155+63delinsGCTTT (n.1155+59_1155+63delinsGCTTT) c.1467+59_1467+63delinsGCTTT (n.1467+59_1467+63delinsGCTTT) | |
5 | g.69433152_69433153insT | CA444794086 | MARVELD2 | c.1503+59_1503+60insT (n.1503+59_1503+60insT) c.1155+59_1155+60insT (n.1155+59_1155+60insT) c.1467+59_1467+60insT (n.1467+59_1467+60insT) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69433152_69433153insAT | CA2674131287 | MARVELD2 | c.1503+59_1503+60insAT (n.1503+59_1503+60insAT) c.1155+59_1155+60insAT (n.1155+59_1155+60insAT) c.1467+59_1467+60insAT (n.1467+59_1467+60insAT) | gnomAD v4 |
5 | g.69433152_69433153insGT | CA2674131294 | MARVELD2 | c.1503+59_1503+60insGT (n.1503+59_1503+60insGT) c.1155+59_1155+60insGT (n.1155+59_1155+60insGT) c.1467+59_1467+60insGT (n.1467+59_1467+60insGT) | gnomAD v4 |
5 | g.69433152_69433153insTT | CA2547137793 | MARVELD2 | c.1503+59_1503+60insTT (n.1503+59_1503+60insTT) c.1155+59_1155+60insTT (n.1155+59_1155+60insTT) c.1467+59_1467+60insTT (n.1467+59_1467+60insTT) | gnomAD v4 |
5 | g.69433152_69433153insGTT | CA2674131283 | MARVELD2 | c.1503+59_1503+60insGTT (n.1503+59_1503+60insGTT) c.1155+59_1155+60insGTT (n.1155+59_1155+60insGTT) c.1467+59_1467+60insGTT (n.1467+59_1467+60insGTT) | gnomAD v4 |
5 | g.69433152_69433153insTTT | CA2674131274 | MARVELD2 | c.1503+59_1503+60insTTT (n.1503+59_1503+60insTTT) c.1155+59_1155+60insTTT (n.1155+59_1155+60insTTT) c.1467+59_1467+60insTTT (n.1467+59_1467+60insTTT) | gnomAD v4 |
5 | g.69433152_69433153insTTTT | CA1077201642 | MARVELD2 | c.1503+59_1503+60insTTTT (n.1503+59_1503+60insTTTT) c.1155+59_1155+60insTTTT (n.1155+59_1155+60insTTTT) c.1467+59_1467+60insTTTT (n.1467+59_1467+60insTTTT) | gnomAD v3 gnomAD v4 |
5 | g.69433152_69433153insTTTTT | CA2674131285 | MARVELD2 | c.1503+59_1503+60insTTTTT (n.1503+59_1503+60insTTTTT) c.1155+59_1155+60insTTTTT (n.1155+59_1155+60insTTTTT) c.1467+59_1467+60insTTTTT (n.1467+59_1467+60insTTTTT) | gnomAD v4 |
5 | g.69433153del | CA1077201634 | MARVELD2 | c.1503+60del (n.1503+60del) c.1155+60del (n.1155+60del) c.1467+60del (n.1467+60del) | gnomAD v3 gnomAD v4 |
5 | g.69433153C>A | CA1553927587 | MARVELD2 | c.1503+60C>A (n.1503+60C>A) c.1155+60C>A (n.1155+60C>A) c.1467+60C>A (n.1467+60C>A) | dbSNP gnomAD v4 |
5 | g.69433153C= | CA1553927588 | MARVELD2 | c.1503+60C= (n.1503+60C=) c.1155+60C= (n.1155+60C=) c.1467+60C= (n.1467+60C=) | |
5 | g.69433153C>G | CA2674131268 | MARVELD2 | c.1503+60C>G (n.1503+60C>G) c.1155+60C>G (n.1155+60C>G) c.1467+60C>G (n.1467+60C>G) | gnomAD v4 |
5 | g.69433153C>T | CA120002734 | MARVELD2 | c.1503+60C>T (n.1503+60C>T) c.1155+60C>T (n.1155+60C>T) c.1467+60C>T (n.1467+60C>T) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433153_69433154del | CA2578329458 | MARVELD2 | c.1503+60_1503+61del (n.1503+60_1503+61del) c.1155+60_1155+61del (n.1155+60_1155+61del) c.1467+60_1467+61del (n.1467+60_1467+61del) | gnomAD v4 |
5 | g.69433153_69433155del | CA2766864500 | MARVELD2 | c.1503+60_1503+62del (n.1503+60_1503+62del) c.1155+60_1155+62del (n.1155+60_1155+62del) c.1467+60_1467+62del (n.1467+60_1467+62del) | |
5 | g.69433153_69433156del | CA1077201621 | MARVELD2 | c.1503+60_1503+63del (n.1503+60_1503+63del) c.1155+60_1155+63del (n.1155+60_1155+63del) c.1467+60_1467+63del (n.1467+60_1467+63del) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433153_69433161del | CA2674131270 | MARVELD2 | c.1503+60_1503+68del (n.1503+60_1503+68del) c.1155+60_1155+68del (n.1155+60_1155+68del) c.1467+60_1467+68del (n.1467+60_1467+68del) | gnomAD v4 |
5 | g.69433153_69433165delinsCTTTTTTTTTTTT | CA1553927586 | MARVELD2 | c.1503+60_1503+72delinsCTTTTTTTTTTTT (n.1503+60_1503+72delinsCTTTTTTTTTTTT) c.1155+60_1155+72delinsCTTTTTTTTTTTT (n.1155+60_1155+72delinsCTTTTTTTTTTTT) c.1467+60_1467+72delinsCTTTTTTTTTTTT (n.1467+60_1467+72delinsCTTTTTTTTTTTT) | |
5 | g.69433153_69433154insA | CA2674131328 | MARVELD2 | c.1503+60_1503+61insA (n.1503+60_1503+61insA) c.1155+60_1155+61insA (n.1155+60_1155+61insA) c.1467+60_1467+61insA (n.1467+60_1467+61insA) | gnomAD v4 |
5 | g.69433153_69433154insAT | CA2578329459 | MARVELD2 | c.1503+60_1503+61insAT (n.1503+60_1503+61insAT) c.1155+60_1155+61insAT (n.1155+60_1155+61insAT) c.1467+60_1467+61insAT (n.1467+60_1467+61insAT) | gnomAD v4 |
5 | g.69433153_69433154insATT | CA2674131329 | MARVELD2 | c.1503+60_1503+61insATT (n.1503+60_1503+61insATT) c.1155+60_1155+61insATT (n.1155+60_1155+61insATT) c.1467+60_1467+61insATT (n.1467+60_1467+61insATT) | gnomAD v4 |
5 | g.69433153_69433154insGTT | CA1077201737 | MARVELD2 | c.1503+60_1503+61insGTT (n.1503+60_1503+61insGTT) c.1155+60_1155+61insGTT (n.1155+60_1155+61insGTT) c.1467+60_1467+61insGTT (n.1467+60_1467+61insGTT) | gnomAD v3 gnomAD v4 |
5 | g.69433154T>A | CA2674131323 | MARVELD2 | c.1503+61T>A (n.1503+61T>A) c.1155+61T>A (n.1155+61T>A) c.1467+61T>A (n.1467+61T>A) | gnomAD v4 |
5 | g.69433154T>C | CA2674131324 | MARVELD2 | c.1503+61T>C (n.1503+61T>C) c.1155+61T>C (n.1155+61T>C) c.1467+61T>C (n.1467+61T>C) | gnomAD v4 |
5 | g.69433154T>G | CA1553927590 | MARVELD2 | c.1503+61T>G (n.1503+61T>G) c.1155+61T>G (n.1155+61T>G) c.1467+61T>G (n.1467+61T>G) | dbSNP gnomAD v4 |
5 | g.69433154T= | CA1553927589 | MARVELD2 | c.1503+61T= (n.1503+61T=) c.1155+61T= (n.1155+61T=) c.1467+61T= (n.1467+61T=) | |
5 | g.69433154_69433155insGTTT | CA2599056852 | MARVELD2 | c.1503+61_1503+62insGTTT (n.1503+61_1503+62insGTTT) c.1155+61_1155+62insGTTT (n.1155+61_1155+62insGTTT) c.1467+61_1467+62insGTTT (n.1467+61_1467+62insGTTT) | gnomAD v3 gnomAD v4 |
5 | g.69433154_69433155insGTTTT | CA1077201745 | MARVELD2 | c.1503+61_1503+62insGTTTT (n.1503+61_1503+62insGTTTT) c.1155+61_1155+62insGTTTT (n.1155+61_1155+62insGTTTT) c.1467+61_1467+62insGTTTT (n.1467+61_1467+62insGTTTT) | gnomAD v3 gnomAD v4 |
5 | g.69433155_69433156insGTTTT | CA1077201762 | MARVELD2 | c.1503+62_1503+63insGTTTT (n.1503+62_1503+63insGTTTT) c.1155+62_1155+63insGTTTT (n.1155+62_1155+63insGTTTT) c.1467+62_1467+63insGTTTT (n.1467+62_1467+63insGTTTT) | gnomAD v3 gnomAD v4 |
5 | g.69433157_69433158insGTTTTTTTT | CA2674131325 | MARVELD2 | c.1503+64_1503+65insGTTTTTTTT (n.1503+64_1503+65insGTTTTTTTT) c.1155+64_1155+65insGTTTTTTTT (n.1155+64_1155+65insGTTTTTTTT) c.1467+64_1467+65insGTTTTTTTT (n.1467+64_1467+65insGTTTTTTTT) | gnomAD v4 |
5 | g.69433158_69433159insGTTTTTT | CA2766864540 | MARVELD2 | c.1503+65_1503+66insGTTTTTT (n.1503+65_1503+66insGTTTTTT) c.1155+65_1155+66insGTTTTTT (n.1155+65_1155+66insGTTTTTT) c.1467+65_1467+66insGTTTTTT (n.1467+65_1467+66insGTTTTTT) | |
5 | g.69433158_69433159insGTTTTTTT | CA2766864535 | MARVELD2 | c.1503+65_1503+66insGTTTTTTT (n.1503+65_1503+66insGTTTTTTT) c.1155+65_1155+66insGTTTTTTT (n.1155+65_1155+66insGTTTTTTT) c.1467+65_1467+66insGTTTTTTT (n.1467+65_1467+66insGTTTTTTT) | |
5 | g.69433165_69433166insGTTTTTTTTTTTTTT | CA1077201802 | MARVELD2 | c.1503+72_1503+73insGTTTTTTTTTTTTTT (n.1503+72_1503+73insGTTTTTTTTTTTTTT) c.1155+72_1155+73insGTTTTTTTTTTTTTT (n.1155+72_1155+73insGTTTTTTTTTTTTTT) c.1467+72_1467+73insGTTTTTTTTTTTTTT (n.1467+72_1467+73insGTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
5 | g.69433167_69433168insGTTTTTTTTTTTTTTTT | CA2674131347 | MARVELD2 | c.1503+74_1503+75insGTTTTTTTTTTTTTTTT (n.1503+74_1503+75insGTTTTTTTTTTTTTTTT) c.1155+74_1155+75insGTTTTTTTTTTTTTTTT (n.1155+74_1155+75insGTTTTTTTTTTTTTTTT) c.1467+74_1467+75insGTTTTTTTTTTTTTTTT (n.1467+74_1467+75insGTTTTTTTTTTTTTTTT) | gnomAD v4 |
5 | g.69433168_69433169insGTTTTTTTTTTTTTTTT | CA2674131344 | MARVELD2 | c.1503+75_1503+76insGTTTTTTTTTTTTTTTT (n.1503+75_1503+76insGTTTTTTTTTTTTTTTT) c.1155+75_1155+76insGTTTTTTTTTTTTTTTT (n.1155+75_1155+76insGTTTTTTTTTTTTTTTT) c.1467+75_1467+76insGTTTTTTTTTTTTTTTT (n.1467+75_1467+76insGTTTTTTTTTTTTTTTT) | gnomAD v4 |
5 | g.69433170_69433171insGTTTTTTTTTTTTTTTTTT | CA2766864547 | MARVELD2 | c.1503+77_1503+78insGTTTTTTTTTTTTTTTTTT (n.1503+77_1503+78insGTTTTTTTTTTTTTTTTTT) c.1155+77_1155+78insGTTTTTTTTTTTTTTTTTT (n.1155+77_1155+78insGTTTTTTTTTTTTTTTTTT) c.1467+77_1467+78insGTTTTTTTTTTTTTTTTTT (n.1467+77_1467+78insGTTTTTTTTTTTTTTTTTT) | |
5 | g.69433172_69433173insGTTTTTTTTTTTTTTTTTTT | CA2766864546 | MARVELD2 | c.1503+79_1503+80insGTTTTTTTTTTTTTTTTTTT (n.1503+79_1503+80insGTTTTTTTTTTTTTTTTTTT) c.1155+79_1155+80insGTTTTTTTTTTTTTTTTTTT (n.1155+79_1155+80insGTTTTTTTTTTTTTTTTTTT) c.1467+79_1467+80insGTTTTTTTTTTTTTTTTTTT (n.1467+79_1467+80insGTTTTTTTTTTTTTTTTTTT) | |
5 | g.69433172_69433173insGTTTTTTTTTTTTTTTTTTTTTTT | CA2766864545 | MARVELD2 | c.1503+79_1503+80insGTTTTTTTTTTTTTTTTTTTTTTT (n.1503+79_1503+80insGTTTTTTTTTTTTTTTTTTTTTTT) c.1155+79_1155+80insGTTTTTTTTTTTTTTTTTTTTTTT (n.1155+79_1155+80insGTTTTTTTTTTTTTTTTTTTTTTT) c.1467+79_1467+80insGTTTTTTTTTTTTTTTTTTTTTTT (n.1467+79_1467+80insGTTTTTTTTTTTTTTTTTTTTTTT) | |
5 | g.69433174_69433175insGTTTTTTTTTTTTTTTTTTTTTTT | CA2766864544 | MARVELD2 | c.1503+81_1503+82insGTTTTTTTTTTTTTTTTTTTTTTT (n.1503+81_1503+82insGTTTTTTTTTTTTTTTTTTTTTTT) c.1155+81_1155+82insGTTTTTTTTTTTTTTTTTTTTTTT (n.1155+81_1155+82insGTTTTTTTTTTTTTTTTTTTTTTT) c.1467+81_1467+82insGTTTTTTTTTTTTTTTTTTTTTTT (n.1467+81_1467+82insGTTTTTTTTTTTTTTTTTTTTTTT) | |
5 | g.69433176_69433177insGTTTTTTTTTTTTTTTTTTTTTTTTT | CA2674131339 | MARVELD2 | c.1503+83_1503+84insGTTTTTTTTTTTTTTTTTTTTTTTTT (n.1503+83_1503+84insGTTTTTTTTTTTTTTTTTTTTTTTTT) c.1155+83_1155+84insGTTTTTTTTTTTTTTTTTTTTTTTTT (n.1155+83_1155+84insGTTTTTTTTTTTTTTTTTTTTTTTTT) c.1467+83_1467+84insGTTTTTTTTTTTTTTTTTTTTTTTTT (n.1467+83_1467+84insGTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
5 | g.69433176_69433177insGTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2674131327 | MARVELD2 | c.1503+83_1503+84insGTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1503+83_1503+84insGTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1155+83_1155+84insGTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1155+83_1155+84insGTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1467+83_1467+84insGTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1467+83_1467+84insGTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
5 | g.69433177_69433178insTTTTTTTTTTTTTTTTTTTTTTTTT | CA2766864543 | MARVELD2 | c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTT (n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTT) c.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTT (n.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTT) c.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTT (n.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTT) | |
5 | g.69433177_69433178insTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1077201734 | MARVELD2 | c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
5 | g.69433177_69433178insTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1077201719 | MARVELD2 | c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTT) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433177_69433178insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1077201695 | MARVELD2 | c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433177_69433178insTTGTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1077201830 | MARVELD2 | c.1503+84_1503+85insTTGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1503+84_1503+85insTTGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1155+84_1155+85insTTGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1155+84_1155+85insTTGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1467+84_1467+85insTTGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1467+84_1467+85insTTGTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
5 | g.69433177_69433178insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1077201703 | MARVELD2 | c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
5 | g.69433177_69433178insTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2599056850 | MARVELD2 | c.1503+84_1503+85insTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1503+84_1503+85insTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1155+84_1155+85insTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1155+84_1155+85insTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1467+84_1467+85insTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1467+84_1467+85insTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
5 | g.69433177_69433178insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1077201710 | MARVELD2 | c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
5 | g.69433177_69433178insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1077201713 | MARVELD2 | c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
5 | g.69433177_69433178insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2674131319 | MARVELD2 | c.1503+84_1503+85insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1503+84_1503+85insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1155+84_1155+85insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1155+84_1155+85insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1467+84_1467+85insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1467+84_1467+85insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
5 | g.69433177_69433178insTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1077201709 | MARVELD2 | c.1503+84_1503+85insTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1503+84_1503+85insTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1155+84_1155+85insTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1155+84_1155+85insTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1467+84_1467+85insTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1467+84_1467+85insTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
5 | g.69433177_69433178insTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1077201712 | MARVELD2 | c.1503+84_1503+85insTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1503+84_1503+85insTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1155+84_1155+85insTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1155+84_1155+85insTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1467+84_1467+85insTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1467+84_1467+85insTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
5 | g.69433177_69433178insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1077201715 | MARVELD2 | c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
5 | g.69433177_69433178insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2766864536 | MARVELD2 | c.1503+84_1503+85insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1503+84_1503+85insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1155+84_1155+85insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1155+84_1155+85insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1467+84_1467+85insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1467+84_1467+85insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT) | |
5 | g.69433177_69433178insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2740648405 | MARVELD2 | c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | |
5 | g.69433177_69433178insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1077201716 | MARVELD2 | c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
5 | g.69433177_69433178insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2674131318 | MARVELD2 | c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
5 | g.69433177_69433178insTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2766864528 | MARVELD2 | c.1503+84_1503+85insTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1503+84_1503+85insTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1155+84_1155+85insTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1155+84_1155+85insTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1467+84_1467+85insTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1467+84_1467+85insTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | |
5 | g.69433177_69433178insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2766864525 | MARVELD2 | c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | |
5 | g.69433177_69433178insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT | CA1077201717 | MARVELD2 | c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT (n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT) c.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT (n.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT) c.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT (n.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
5 | g.69433177dup | CA120002736 | MARVELD2 | c.1503+84dup (n.1503+84dup) c.1155+84dup (n.1155+84dup) c.1467+84dup (n.1467+84dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69433176_69433177dup | CA560299439 | MARVELD2 | c.1503+83_1503+84dup (n.1503+83_1503+84dup) c.1155+83_1155+84dup (n.1155+83_1155+84dup) c.1467+83_1467+84dup (n.1467+83_1467+84dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69433175_69433177dup | CA560299440 | MARVELD2 | c.1503+82_1503+84dup (n.1503+82_1503+84dup) c.1155+82_1155+84dup (n.1155+82_1155+84dup) c.1467+82_1467+84dup (n.1467+82_1467+84dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69433174_69433177dup | CA1077201768 | MARVELD2 | c.1503+81_1503+84dup (n.1503+81_1503+84dup) c.1155+81_1155+84dup (n.1155+81_1155+84dup) c.1467+81_1467+84dup (n.1467+81_1467+84dup) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433173_69433177dup | CA560299441 | MARVELD2 | c.1503+80_1503+84dup (n.1503+80_1503+84dup) c.1155+80_1155+84dup (n.1155+80_1155+84dup) c.1467+80_1467+84dup (n.1467+80_1467+84dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69433172_69433177dup | CA1077201778 | MARVELD2 | c.1503+79_1503+84dup (n.1503+79_1503+84dup) c.1155+79_1155+84dup (n.1155+79_1155+84dup) c.1467+79_1467+84dup (n.1467+79_1467+84dup) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433171_69433177dup | CA1077201779 | MARVELD2 | c.1503+78_1503+84dup (n.1503+78_1503+84dup) c.1155+78_1155+84dup (n.1155+78_1155+84dup) c.1467+78_1467+84dup (n.1467+78_1467+84dup) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433170_69433177dup | CA1077201786 | MARVELD2 | c.1503+77_1503+84dup (n.1503+77_1503+84dup) c.1155+77_1155+84dup (n.1155+77_1155+84dup) c.1467+77_1467+84dup (n.1467+77_1467+84dup) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433169_69433177dup | CA1077201837 | MARVELD2 | c.1503+76_1503+84dup (n.1503+76_1503+84dup) c.1155+76_1155+84dup (n.1155+76_1155+84dup) c.1467+76_1467+84dup (n.1467+76_1467+84dup) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433168_69433177dup | CA1077201791 | MARVELD2 | c.1503+75_1503+84dup (n.1503+75_1503+84dup) c.1155+75_1155+84dup (n.1155+75_1155+84dup) c.1467+75_1467+84dup (n.1467+75_1467+84dup) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433167_69433177dup | CA1077201793 | MARVELD2 | c.1503+74_1503+84dup (n.1503+74_1503+84dup) c.1155+74_1155+84dup (n.1155+74_1155+84dup) c.1467+74_1467+84dup (n.1467+74_1467+84dup) | gnomAD v3 gnomAD v4 |
5 | g.69433166_69433177dup | CA1077201796 | MARVELD2 | c.1503+73_1503+84dup (n.1503+73_1503+84dup) c.1155+73_1155+84dup (n.1155+73_1155+84dup) c.1467+73_1467+84dup (n.1467+73_1467+84dup) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433165_69433177dup | CA2674131349 | MARVELD2 | c.1503+72_1503+84dup (n.1503+72_1503+84dup) c.1155+72_1155+84dup (n.1155+72_1155+84dup) c.1467+72_1467+84dup (n.1467+72_1467+84dup) | gnomAD v4 |
5 | g.69433164_69433177dup | CA1077201808 | MARVELD2 | c.1503+71_1503+84dup (n.1503+71_1503+84dup) c.1155+71_1155+84dup (n.1155+71_1155+84dup) c.1467+71_1467+84dup (n.1467+71_1467+84dup) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433163_69433177dup | CA1077201813 | MARVELD2 | c.1503+70_1503+84dup (n.1503+70_1503+84dup) c.1155+70_1155+84dup (n.1155+70_1155+84dup) c.1467+70_1467+84dup (n.1467+70_1467+84dup) | gnomAD v3 gnomAD v4 |
5 | g.69433161_69433177dup | CA1077201819 | MARVELD2 | c.1503+68_1503+84dup (n.1503+68_1503+84dup) c.1155+68_1155+84dup (n.1155+68_1155+84dup) c.1467+68_1467+84dup (n.1467+68_1467+84dup) | gnomAD v3 gnomAD v4 |
5 | g.69433159_69433177dup | CA2674131341 | MARVELD2 | c.1503+66_1503+84dup (n.1503+66_1503+84dup) c.1155+66_1155+84dup (n.1155+66_1155+84dup) c.1467+66_1467+84dup (n.1467+66_1467+84dup) | gnomAD v4 |
5 | g.69433158_69433177dup | CA1077201821 | MARVELD2 | c.1503+65_1503+84dup (n.1503+65_1503+84dup) c.1155+65_1155+84dup (n.1155+65_1155+84dup) c.1467+65_1467+84dup (n.1467+65_1467+84dup) | gnomAD v3 gnomAD v4 |
5 | g.69433157_69433177dup | CA1077201825 | MARVELD2 | c.1503+64_1503+84dup (n.1503+64_1503+84dup) c.1155+64_1155+84dup (n.1155+64_1155+84dup) c.1467+64_1467+84dup (n.1467+64_1467+84dup) | gnomAD v3 gnomAD v4 |
5 | g.69433177del | CA813512849 | MARVELD2 | c.1503+84del (n.1503+84del) c.1155+84del (n.1155+84del) c.1467+84del (n.1467+84del) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433176_69433177del | CA813512851 | MARVELD2 | c.1503+83_1503+84del (n.1503+83_1503+84del) c.1155+83_1155+84del (n.1155+83_1155+84del) c.1467+83_1467+84del (n.1467+83_1467+84del) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433175_69433177del | CA813512856 | MARVELD2 | c.1503+82_1503+84del (n.1503+82_1503+84del) c.1155+82_1155+84del (n.1155+82_1155+84del) c.1467+82_1467+84del (n.1467+82_1467+84del) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433174_69433177del | CA560299437 | MARVELD2 | c.1503+81_1503+84del (n.1503+81_1503+84del) c.1155+81_1155+84del (n.1155+81_1155+84del) c.1467+81_1467+84del (n.1467+81_1467+84del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69433173_69433177del | CA813512850 | MARVELD2 | c.1503+80_1503+84del (n.1503+80_1503+84del) c.1155+80_1155+84del (n.1155+80_1155+84del) c.1467+80_1467+84del (n.1467+80_1467+84del) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433172_69433177del | CA813512853 | MARVELD2 | c.1503+79_1503+84del (n.1503+79_1503+84del) c.1155+79_1155+84del (n.1155+79_1155+84del) c.1467+79_1467+84del (n.1467+79_1467+84del) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433171_69433177del | CA813512852 | MARVELD2 | c.1503+78_1503+84del (n.1503+78_1503+84del) c.1155+78_1155+84del (n.1155+78_1155+84del) c.1467+78_1467+84del (n.1467+78_1467+84del) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433170_69433177del | CA813512854 | MARVELD2 | c.1503+77_1503+84del (n.1503+77_1503+84del) c.1155+77_1155+84del (n.1155+77_1155+84del) c.1467+77_1467+84del (n.1467+77_1467+84del) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433169_69433177del | CA444794089 | MARVELD2 | c.1503+76_1503+84del (n.1503+76_1503+84del) c.1155+76_1155+84del (n.1155+76_1155+84del) c.1467+76_1467+84del (n.1467+76_1467+84del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69433168_69433177del | CA813512855 | MARVELD2 | c.1503+75_1503+84del (n.1503+75_1503+84del) c.1155+75_1155+84del (n.1155+75_1155+84del) c.1467+75_1467+84del (n.1467+75_1467+84del) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433167_69433177del | CA813512857 | MARVELD2 | c.1503+74_1503+84del (n.1503+74_1503+84del) c.1155+74_1155+84del (n.1155+74_1155+84del) c.1467+74_1467+84del (n.1467+74_1467+84del) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433166_69433177del | CA649636556 | MARVELD2 | c.1503+73_1503+84del (n.1503+73_1503+84del) c.1155+73_1155+84del (n.1155+73_1155+84del) c.1467+73_1467+84del (n.1467+73_1467+84del) | dbSNP gnomAD v4 COSMIC |
5 | g.69433165_69433177del | CA2674131321 | MARVELD2 | c.1503+72_1503+84del (n.1503+72_1503+84del) c.1155+72_1155+84del (n.1155+72_1155+84del) c.1467+72_1467+84del (n.1467+72_1467+84del) | gnomAD v4 |
5 | g.69433164_69433177del | CA2674131322 | MARVELD2 | c.1503+71_1503+84del (n.1503+71_1503+84del) c.1155+71_1155+84del (n.1155+71_1155+84del) c.1467+71_1467+84del (n.1467+71_1467+84del) | gnomAD v4 |
5 | g.69433154_69433155insC | CA2766864560 | MARVELD2 | c.1503+61_1503+62insC (n.1503+61_1503+62insC) c.1155+61_1155+62insC (n.1155+61_1155+62insC) c.1467+61_1467+62insC (n.1467+61_1467+62insC) | |
5 | g.69433154_69433155insG | CA2568103192 | MARVELD2 | c.1503+61_1503+62insG (n.1503+61_1503+62insG) c.1155+61_1155+62insG (n.1155+61_1155+62insG) c.1467+61_1467+62insG (n.1467+61_1467+62insG) | |
5 | g.69433155T>A | CA2674131380 | MARVELD2 | c.1503+62T>A (n.1503+62T>A) c.1155+62T>A (n.1155+62T>A) c.1467+62T>A (n.1467+62T>A) | gnomAD v4 |
5 | g.69433155T>C | CA1553927613 | MARVELD2 | c.1503+62T>C (n.1503+62T>C) c.1155+62T>C (n.1155+62T>C) c.1467+62T>C (n.1467+62T>C) | dbSNP |
5 | g.69433155T>G | CA2674131381 | MARVELD2 | c.1503+62T>G (n.1503+62T>G) c.1155+62T>G (n.1155+62T>G) c.1467+62T>G (n.1467+62T>G) | gnomAD v4 |
5 | g.69433155T= | CA1553927611 | MARVELD2 | c.1503+62T= (n.1503+62T=) c.1155+62T= (n.1155+62T=) c.1467+62T= (n.1467+62T=) | |
5 | g.69433155_69433156insC | CA2766864562 | MARVELD2 | c.1503+62_1503+63insC (n.1503+62_1503+63insC) c.1155+62_1155+63insC (n.1155+62_1155+63insC) c.1467+62_1467+63insC (n.1467+62_1467+63insC) | |
5 | g.69433156T>A | CA2674131384 | MARVELD2 | c.1503+63T>A (n.1503+63T>A) c.1155+63T>A (n.1155+63T>A) c.1467+63T>A (n.1467+63T>A) | gnomAD v4 |
5 | g.69433156T>C | CA2674131385 | MARVELD2 | c.1503+63T>C (n.1503+63T>C) c.1155+63T>C (n.1155+63T>C) c.1467+63T>C (n.1467+63T>C) | gnomAD v4 |
5 | g.69433156_69433157insCAGTGCTCCTCCTAGGCAGCTGCACATACT | CA2766864563 | MARVELD2 | c.1503+63_1503+64insCAGTGCTCCTCCTAGGCAGCTGCACATACT (n.1503+63_1503+64insCAGTGCTCCTCCTAGGCAGCTGCACATACT) c.1155+63_1155+64insCAGTGCTCCTCCTAGGCAGCTGCACATACT (n.1155+63_1155+64insCAGTGCTCCTCCTAGGCAGCTGCACATACT) c.1467+63_1467+64insCAGTGCTCCTCCTAGGCAGCTGCACATACT (n.1467+63_1467+64insCAGTGCTCCTCCTAGGCAGCTGCACATACT) | |
5 | g.69433158_69433159insCTTT | CA2766864564 | MARVELD2 | c.1503+65_1503+66insCTTT (n.1503+65_1503+66insCTTT) c.1155+65_1155+66insCTTT (n.1155+65_1155+66insCTTT) c.1467+65_1467+66insCTTT (n.1467+65_1467+66insCTTT) | |
5 | g.69433156_69433157insCAG | CA2766864565 | MARVELD2 | c.1503+63_1503+64insCAG (n.1503+63_1503+64insCAG) c.1155+63_1155+64insCAG (n.1155+63_1155+64insCAG) c.1467+63_1467+64insCAG (n.1467+63_1467+64insCAG) | |
5 | g.69433157T>A | CA2674131386 | MARVELD2 | c.1503+64T>A (n.1503+64T>A) c.1155+64T>A (n.1155+64T>A) c.1467+64T>A (n.1467+64T>A) | gnomAD v4 |
5 | g.69433159T>A | CA2674131387 | MARVELD2 | c.1503+66T>A (n.1503+66T>A) c.1155+66T>A (n.1155+66T>A) c.1467+66T>A (n.1467+66T>A) | gnomAD v4 |
5 | g.69433159T>C | CA2674131389 | MARVELD2 | c.1503+66T>C (n.1503+66T>C) c.1155+66T>C (n.1155+66T>C) c.1467+66T>C (n.1467+66T>C) | dbSNP gnomAD v4 |
5 | g.69433160T>A | CA2674131391 | MARVELD2 | c.1503+67T>A (n.1503+67T>A) c.1155+67T>A (n.1155+67T>A) c.1467+67T>A (n.1467+67T>A) | gnomAD v4 |
5 | g.69433160T>C | CA1077201857 | MARVELD2 | c.1503+67T>C (n.1503+67T>C) c.1155+67T>C (n.1155+67T>C) c.1467+67T>C (n.1467+67T>C) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.69433160T= | CA1553927615 | MARVELD2 | c.1503+67T= (n.1503+67T=) c.1155+67T= (n.1155+67T=) c.1467+67T= (n.1467+67T=) | |
5 | g.69433161T>A | CA2674131393 | MARVELD2 | c.1503+68T>A (n.1503+68T>A) c.1155+68T>A (n.1155+68T>A) c.1467+68T>A (n.1467+68T>A) | gnomAD v4 |
5 | g.69433162T>A | CA2674131395 | MARVELD2 | c.1503+69T>A (n.1503+69T>A) c.1155+69T>A (n.1155+69T>A) c.1467+69T>A (n.1467+69T>A) | gnomAD v4 |
5 | g.69433162T= | CA1553927616 | MARVELD2 | c.1503+69T= (n.1503+69T=) c.1155+69T= (n.1155+69T=) c.1467+69T= (n.1467+69T=) | |
5 | g.69433162_69433163insC | CA1553927617 | MARVELD2 | c.1503+69_1503+70insC (n.1503+69_1503+70insC) c.1155+69_1155+70insC (n.1155+69_1155+70insC) c.1467+69_1467+70insC (n.1467+69_1467+70insC) | dbSNP |
5 | g.69433164T>C | CA2674131397 | MARVELD2 | c.1503+71T>C (n.1503+71T>C) c.1155+71T>C (n.1155+71T>C) c.1467+71T>C (n.1467+71T>C) | gnomAD v4 |
5 | g.69433177_69433178insTTTTTTTTTTTGTTTTTTTTTTTTTT | CA2674131396 | MARVELD2 | c.1503+84_1503+85insTTTTTTTTTTTGTTTTTTTTTTTTTT (n.1503+84_1503+85insTTTTTTTTTTTGTTTTTTTTTTTTTT) c.1155+84_1155+85insTTTTTTTTTTTGTTTTTTTTTTTTTT (n.1155+84_1155+85insTTTTTTTTTTTGTTTTTTTTTTTTTT) c.1467+84_1467+85insTTTTTTTTTTTGTTTTTTTTTTTTTT (n.1467+84_1467+85insTTTTTTTTTTTGTTTTTTTTTTTTTT) | gnomAD v4 |
5 | g.69433166T>C | CA2674131400 | MARVELD2 | c.1503+73T>C (n.1503+73T>C) c.1155+73T>C (n.1155+73T>C) c.1467+73T>C (n.1467+73T>C) | gnomAD v4 |
5 | g.69433166_69433167insG | CA2674131401 | MARVELD2 | c.1503+73_1503+74insG (n.1503+73_1503+74insG) c.1155+73_1155+74insG (n.1155+73_1155+74insG) c.1467+73_1467+74insG (n.1467+73_1467+74insG) | gnomAD v4 |
5 | g.69433167T>G | CA2674131402 | MARVELD2 | c.1503+74T>G (n.1503+74T>G) c.1155+74T>G (n.1155+74T>G) c.1467+74T>G (n.1467+74T>G) | gnomAD v4 |
5 | g.69433173_69433174insGTTTTTTT | CA2766863499 | MARVELD2 | c.1503+80_1503+81insGTTTTTTT (n.1503+80_1503+81insGTTTTTTT) c.1155+80_1155+81insGTTTTTTT (n.1155+80_1155+81insGTTTTTTT) c.1467+80_1467+81insGTTTTTTT (n.1467+80_1467+81insGTTTTTTT) | |
5 | g.69433177_69433178insTTTTTTTTTTTTTGTTTTTTTTTT | CA1077201863 | MARVELD2 | c.1503+84_1503+85insTTTTTTTTTTTTTGTTTTTTTTTT (n.1503+84_1503+85insTTTTTTTTTTTTTGTTTTTTTTTT) c.1155+84_1155+85insTTTTTTTTTTTTTGTTTTTTTTTT (n.1155+84_1155+85insTTTTTTTTTTTTTGTTTTTTTTTT) c.1467+84_1467+85insTTTTTTTTTTTTTGTTTTTTTTTT (n.1467+84_1467+85insTTTTTTTTTTTTTGTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
5 | g.69433169T>C | CA2535663471 | MARVELD2 | c.1503+76T>C (n.1503+76T>C) c.1155+76T>C (n.1155+76T>C) c.1467+76T>C (n.1467+76T>C) | |
5 | g.69433177_69433178insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTT | CA1077201866 | MARVELD2 | c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTT (n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTT) c.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTT (n.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTT) c.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTT (n.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTT) | gnomAD v3 gnomAD v4 |
5 | g.69433171T>C | CA2674131403 | MARVELD2 | c.1503+78T>C (n.1503+78T>C) c.1155+78T>C (n.1155+78T>C) c.1467+78T>C (n.1467+78T>C) | gnomAD v4 |
5 | g.69433172T>A | CA2674131405 | MARVELD2 | c.1503+79T>A (n.1503+79T>A) c.1155+79T>A (n.1155+79T>A) c.1467+79T>A (n.1467+79T>A) | gnomAD v4 |
5 | g.69433172T>C | CA2674131406 | MARVELD2 | c.1503+79T>C (n.1503+79T>C) c.1155+79T>C (n.1155+79T>C) c.1467+79T>C (n.1467+79T>C) | gnomAD v4 |
5 | g.69433172_69433173insC | CA2508051385 | MARVELD2 | c.1503+79_1503+80insC (n.1503+79_1503+80insC) c.1155+79_1155+80insC (n.1155+79_1155+80insC) c.1467+79_1467+80insC (n.1467+79_1467+80insC) | |
5 | g.69433173T>G | CA2578329460 | MARVELD2 | c.1503+80T>G (n.1503+80T>G) c.1155+80T>G (n.1155+80T>G) c.1467+80T>G (n.1467+80T>G) | |
5 | g.69433173_69433174insCT | CA2674131407 | MARVELD2 | c.1503+80_1503+81insCT (n.1503+80_1503+81insCT) c.1155+80_1155+81insCT (n.1155+80_1155+81insCT) c.1467+80_1467+81insCT (n.1467+80_1467+81insCT) | gnomAD v4 |
5 | g.69433174T>C | CA560299442 | MARVELD2 | c.1503+81T>C (n.1503+81T>C) c.1155+81T>C (n.1155+81T>C) c.1467+81T>C (n.1467+81T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69433174T= | CA1553927620 | MARVELD2 | c.1503+81T= (n.1503+81T=) c.1155+81T= (n.1155+81T=) c.1467+81T= (n.1467+81T=) | |
5 | g.69433177_69433178insTTTGTTTT | CA1077201871 | MARVELD2 | c.1503+84_1503+85insTTTGTTTT (n.1503+84_1503+85insTTTGTTTT) c.1155+84_1155+85insTTTGTTTT (n.1155+84_1155+85insTTTGTTTT) c.1467+84_1467+85insTTTGTTTT (n.1467+84_1467+85insTTTGTTTT) | gnomAD v3 gnomAD v4 |
5 | g.69433177_69433178insTTTTTGTTTT | CA560299443 | MARVELD2 | c.1503+84_1503+85insTTTTTGTTTT (n.1503+84_1503+85insTTTTTGTTTT) c.1155+84_1155+85insTTTTTGTTTT (n.1155+84_1155+85insTTTTTGTTTT) c.1467+84_1467+85insTTTTTGTTTT (n.1467+84_1467+85insTTTTTGTTTT) | gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69433174_69433178delinsTTTTC | CA1553927623 | MARVELD2 | c.1503+81_1503+85delinsTTTTC (n.1503+81_1503+85delinsTTTTC) c.1155+81_1155+85delinsTTTTC (n.1155+81_1155+85delinsTTTTC) c.1467+81_1467+85delinsTTTTC (n.1467+81_1467+85delinsTTTTC) | |
5 | g.69433175_69433179del | CA2674131409 | MARVELD2 | c.1503+82_1503+86del (n.1503+82_1503+86del) c.1155+82_1155+86del (n.1155+82_1155+86del) c.1467+82_1467+86del (n.1467+82_1467+86del) | gnomAD v4 |
5 | g.69433175T>A | CA2674131419 | MARVELD2 | c.1503+82T>A (n.1503+82T>A) c.1155+82T>A (n.1155+82T>A) c.1467+82T>A (n.1467+82T>A) | gnomAD v4 |
5 | g.69433175T>C | CA813512858 | MARVELD2 | c.1503+82T>C (n.1503+82T>C) c.1155+82T>C (n.1155+82T>C) c.1467+82T>C (n.1467+82T>C) | dbSNP gnomAD v4 |
5 | g.69433175T>G | CA2674131421 | MARVELD2 | c.1503+82T>G (n.1503+82T>G) c.1155+82T>G (n.1155+82T>G) c.1467+82T>G (n.1467+82T>G) | gnomAD v4 |
5 | g.69433175T= | CA1553927625 | MARVELD2 | c.1503+82T= (n.1503+82T=) c.1155+82T= (n.1155+82T=) c.1467+82T= (n.1467+82T=) | |
5 | g.69433177_69433178insGTTT | CA2766863506 | MARVELD2 | c.1503+84_1503+85insGTTT (n.1503+84_1503+85insGTTT) c.1155+84_1155+85insGTTT (n.1155+84_1155+85insGTTT) c.1467+84_1467+85insGTTT (n.1467+84_1467+85insGTTT) | |
5 | g.69433177_69433178insTTTTTTTTTTTGTTT | CA2766863503 | MARVELD2 | c.1503+84_1503+85insTTTTTTTTTTTGTTT (n.1503+84_1503+85insTTTTTTTTTTTGTTT) c.1155+84_1155+85insTTTTTTTTTTTGTTT (n.1155+84_1155+85insTTTTTTTTTTTGTTT) c.1467+84_1467+85insTTTTTTTTTTTGTTT (n.1467+84_1467+85insTTTTTTTTTTTGTTT) | |
5 | g.69433177_69433178insTTTTTTTTTTTTTTTTTTTGTTT | CA2766863505 | MARVELD2 | c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTGTTT (n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTGTTT) c.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTGTTT (n.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTGTTT) c.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTGTTT (n.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTGTTT) | |
5 | g.69433177_69433178insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTT | CA560299445 | MARVELD2 | c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTT (n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTT) c.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTT (n.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTT) c.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTT (n.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTT) | dbSNP gnomAD v2 |
5 | g.69433176_69433179del | CA1553927626 | MARVELD2 | c.1503+83_1503+86del (n.1503+83_1503+86del) c.1155+83_1155+86del (n.1155+83_1155+86del) c.1467+83_1467+86del (n.1467+83_1467+86del) | dbSNP gnomAD v4 |
5 | g.69433175_69433176insC | CA1553927629 | MARVELD2 | c.1503+82_1503+83insC (n.1503+82_1503+83insC) c.1155+82_1155+83insC (n.1155+82_1155+83insC) c.1467+82_1467+83insC (n.1467+82_1467+83insC) | dbSNP gnomAD v4 |
5 | g.69433176T>C | CA1553927630 | MARVELD2 | c.1503+83T>C (n.1503+83T>C) c.1155+83T>C (n.1155+83T>C) c.1467+83T>C (n.1467+83T>C) | dbSNP gnomAD v4 |
5 | g.69433176T>G | CA2674131434 | MARVELD2 | c.1503+83T>G (n.1503+83T>G) c.1155+83T>G (n.1155+83T>G) c.1467+83T>G (n.1467+83T>G) | gnomAD v4 |
5 | g.69433176T= | CA1553927628 | MARVELD2 | c.1503+83T= (n.1503+83T=) c.1155+83T= (n.1155+83T=) c.1467+83T= (n.1467+83T=) | |
5 | g.69433176_69433177insAT | CA2674131430 | MARVELD2 | c.1503+83_1503+84insAT (n.1503+83_1503+84insAT) c.1155+83_1155+84insAT (n.1155+83_1155+84insAT) c.1467+83_1467+84insAT (n.1467+83_1467+84insAT) | gnomAD v4 |
5 | g.69433177_69433179del | CA2674131432 | MARVELD2 | c.1503+84_1503+86del (n.1503+84_1503+86del) c.1155+84_1155+86del (n.1155+84_1155+86del) c.1467+84_1467+86del (n.1467+84_1467+86del) | gnomAD v4 |
5 | g.69433176_69433177insA | CA2674131439 | MARVELD2 | c.1503+83_1503+84insA (n.1503+83_1503+84insA) c.1155+83_1155+84insA (n.1155+83_1155+84insA) c.1467+83_1467+84insA (n.1467+83_1467+84insA) | gnomAD v4 |
5 | g.69433177T>C | CA120002746 | MARVELD2 | c.1503+84T>C (n.1503+84T>C) c.1155+84T>C (n.1155+84T>C) c.1467+84T>C (n.1467+84T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69433177T= | CA1553927633 | MARVELD2 | c.1503+84T= (n.1503+84T=) c.1155+84T= (n.1155+84T=) c.1467+84T= (n.1467+84T=) | |
5 | g.69433177_69433178insGT | CA2516012616 | MARVELD2 | c.1503+84_1503+85insGT (n.1503+84_1503+85insGT) c.1155+84_1155+85insGT (n.1155+84_1155+85insGT) c.1467+84_1467+85insGT (n.1467+84_1467+85insGT) | |
5 | g.69433177_69433178insTCT | CA2674131443 | MARVELD2 | c.1503+84_1503+85insTCT (n.1503+84_1503+85insTCT) c.1155+84_1155+85insTCT (n.1155+84_1155+85insTCT) c.1467+84_1467+85insTCT (n.1467+84_1467+85insTCT) | gnomAD v4 |
5 | g.69433177_69433178insTTTTTTTTTTTGT | CA2599056856 | MARVELD2 | c.1503+84_1503+85insTTTTTTTTTTTGT (n.1503+84_1503+85insTTTTTTTTTTTGT) c.1155+84_1155+85insTTTTTTTTTTTGT (n.1155+84_1155+85insTTTTTTTTTTTGT) c.1467+84_1467+85insTTTTTTTTTTTGT (n.1467+84_1467+85insTTTTTTTTTTTGT) | gnomAD v3 gnomAD v4 |
5 | g.69433177_69433178delinsTC | CA1553927635 | MARVELD2 | c.1503+84_1503+85delinsTC (n.1503+84_1503+85delinsTC) c.1155+84_1155+85delinsTC (n.1155+84_1155+85delinsTC) c.1467+84_1467+85delinsTC (n.1467+84_1467+85delinsTC) | |
5 | g.69433178_69433179dup | CA2674131441 | MARVELD2 | c.1503+85_1503+86dup (n.1503+85_1503+86dup) c.1155+85_1155+86dup (n.1155+85_1155+86dup) c.1467+85_1467+86dup (n.1467+85_1467+86dup) | gnomAD v4 |
5 | g.69433178_69433179del | CA2674131446 | MARVELD2 | c.1503+85_1503+86del (n.1503+85_1503+86del) c.1155+85_1155+86del (n.1155+85_1155+86del) c.1467+85_1467+86del (n.1467+85_1467+86del) | gnomAD v4 |