Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108694803_108694835delinsCCAGATGTGCAGTATGTGAAGCTCCAGCTGTGG | CA2450721565 | COL4A5 | c.4707-4_4735delinsCCAGATGTGCAGTATGTGAAGCTCCAGCTGTGG c.4689-4_4717delinsCCAGATGTGCAGTATGTGAAGCTCCAGCTGTGG n.1201-4_1229delinsCCAGATGTGCAGTATGTGAAGCTCCAGCTGTGG n.1189_1221delinsCCAGATGTGCAGTATGTGAAGCTCCAGCTGTGG c.105-4_133delinsCCAGATGTGCAGTATGTGAAGCTCCAGCTGTGG c.325-1494_325-1462delinsCCAGATGTGCAGTATGTGAAGCTCCAGCTGTGG c.4698-4_4726delinsCCAGATGTGCAGTATGTGAAGCTCCAGCTGTGG c.4383-4_4411delinsCCAGATGTGCAGTATGTGAAGCTCCAGCTGTGG c.2280-4_2308delinsCCAGATGTGCAGTATGTGAAGCTCCAGCTGTGG c.4722-4_4750delinsCCAGATGTGCAGTATGTGAAGCTCCAGCTGTGG c.4713-4_4741delinsCCAGATGTGCAGTATGTGAAGCTCCAGCTGTGG c.4704-4_4732delinsCCAGATGTGCAGTATGTGAAGCTCCAGCTGTGG c.3042-4_3070delinsCCAGATGTGCAGTATGTGAAGCTCCAGCTGTGG | |
X | g.108694804_108694835del | CA259091 | COL4A5 | c.4707-3_4735del c.4689-3_4717del n.1201-3_1229del n.1190_1221del c.105-3_133del c.325-1493_325-1462del c.4698-3_4726del c.4383-3_4411del c.2280-3_2308del c.4722-3_4750del c.4713-3_4741del c.4704-3_4732del c.3042-3_3070del | |
X | g.108694822A>C | CA414132416 | COL4A5 | c.4722A>C (p.Glu1574Asp) c.4704A>C (p.Glu1568Asp) n.1216A>C n.1208A>C c.120A>C (p.Glu40Asp) c.325-1475A>C c.4713A>C (p.Glu1571Asp) c.4398A>C (p.Glu1466Asp) c.2295A>C (p.Glu765Asp) c.4737A>C (p.Glu1579Asp) c.4728A>C (p.Glu1576Asp) c.4719A>C (p.Glu1573Asp) c.3057A>C (p.Glu1019Asp) | |
X | g.108694822A>G | CA517925581 | COL4A5 | c.4722A>G (p.Glu1574=) c.4704A>G (p.Glu1568=) n.1216A>G n.1208A>G c.120A>G (p.Glu40=) c.325-1475A>G c.4713A>G (p.Glu1571=) c.4398A>G (p.Glu1466=) c.2295A>G (p.Glu765=) c.4737A>G (p.Glu1579=) c.4728A>G (p.Glu1576=) c.4719A>G (p.Glu1573=) c.3057A>G (p.Glu1019=) | |
X | g.108694822A>T | CA414132415 | COL4A5 | c.4722A>T (p.Glu1574Asp) c.4704A>T (p.Glu1568Asp) n.1216A>T n.1208A>T c.120A>T (p.Glu40Asp) c.325-1475A>T c.4713A>T (p.Glu1571Asp) c.4398A>T (p.Glu1466Asp) c.2295A>T (p.Glu765Asp) c.4737A>T (p.Glu1579Asp) c.4728A>T (p.Glu1576Asp) c.4719A>T (p.Glu1573Asp) c.3057A>T (p.Glu1019Asp) | |
X | g.108694823G>A | CA10489411 | COL4A5 | c.4723G>A (p.Ala1575Thr) c.4705G>A (p.Ala1569Thr) n.1217G>A n.1209G>A c.121G>A (p.Ala41Thr) c.325-1474G>A c.4714G>A (p.Ala1572Thr) c.4399G>A (p.Ala1467Thr) c.2296G>A (p.Ala766Thr) c.4738G>A (p.Ala1580Thr) c.4729G>A (p.Ala1577Thr) c.4720G>A (p.Ala1574Thr) c.3058G>A (p.Ala1020Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108694823G>C | CA414132417 | COL4A5 | c.4723G>C (p.Ala1575Pro) c.4705G>C (p.Ala1569Pro) n.1217G>C n.1209G>C c.121G>C (p.Ala41Pro) c.325-1474G>C c.4714G>C (p.Ala1572Pro) c.4399G>C (p.Ala1467Pro) c.2296G>C (p.Ala766Pro) c.4738G>C (p.Ala1580Pro) c.4729G>C (p.Ala1577Pro) c.4720G>C (p.Ala1574Pro) c.3058G>C (p.Ala1020Pro) | |
X | g.108694823G= | CA2450721574 | COL4A5 | c.4723G= (p.Ala1575=) c.4705G= (p.Ala1569=) n.1217G= n.1209G= c.121G= (p.Ala41=) c.325-1474G= c.4714G= (p.Ala1572=) c.4399G= (p.Ala1467=) c.2296G= (p.Ala766=) c.4738G= (p.Ala1580=) c.4729G= (p.Ala1577=) c.4720G= (p.Ala1574=) c.3058G= (p.Ala1020=) | |
X | g.108694823G>T | CA414132418 | COL4A5 | c.4723G>T (p.Ala1575Ser) c.4705G>T (p.Ala1569Ser) n.1217G>T n.1209G>T c.121G>T (p.Ala41Ser) c.325-1474G>T c.4714G>T (p.Ala1572Ser) c.4399G>T (p.Ala1467Ser) c.2296G>T (p.Ala766Ser) c.4738G>T (p.Ala1580Ser) c.4729G>T (p.Ala1577Ser) c.4720G>T (p.Ala1574Ser) c.3058G>T (p.Ala1020Ser) | |
X | g.108694824C>A | CA414132419 | COL4A5 | c.4724C>A (p.Ala1575Asp) c.4706C>A (p.Ala1569Asp) n.1218C>A n.1210C>A c.122C>A (p.Ala41Asp) c.325-1473C>A c.4715C>A (p.Ala1572Asp) c.4400C>A (p.Ala1467Asp) c.2297C>A (p.Ala766Asp) c.4739C>A (p.Ala1580Asp) c.4730C>A (p.Ala1577Asp) c.4721C>A (p.Ala1574Asp) c.3059C>A (p.Ala1020Asp) | |
X | g.108694824C= | CA2450721575 | COL4A5 | c.4724C= (p.Ala1575=) c.4706C= (p.Ala1569=) n.1218C= n.1210C= c.122C= (p.Ala41=) c.325-1473C= c.4715C= (p.Ala1572=) c.4400C= (p.Ala1467=) c.2297C= (p.Ala766=) c.4739C= (p.Ala1580=) c.4730C= (p.Ala1577=) c.4721C= (p.Ala1574=) c.3059C= (p.Ala1020=) | |
X | g.108694824C>G | CA10489412 | COL4A5 | c.4724C>G (p.Ala1575Gly) c.4706C>G (p.Ala1569Gly) n.1218C>G n.1210C>G c.122C>G (p.Ala41Gly) c.325-1473C>G c.4715C>G (p.Ala1572Gly) c.4400C>G (p.Ala1467Gly) c.2297C>G (p.Ala766Gly) c.4739C>G (p.Ala1580Gly) c.4730C>G (p.Ala1577Gly) c.4721C>G (p.Ala1574Gly) c.3059C>G (p.Ala1020Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108694824C>T | CA414132420 | COL4A5 | c.4724C>T (p.Ala1575Val) c.4706C>T (p.Ala1569Val) n.1218C>T n.1210C>T c.122C>T (p.Ala41Val) c.325-1473C>T c.4715C>T (p.Ala1572Val) c.4400C>T (p.Ala1467Val) c.2297C>T (p.Ala766Val) c.4739C>T (p.Ala1580Val) c.4730C>T (p.Ala1577Val) c.4721C>T (p.Ala1574Val) c.3059C>T (p.Ala1020Val) | |
X | g.108694825T>A | CA517925588 | COL4A5 | c.4725T>A (p.Ala1575=) c.4707T>A (p.Ala1569=) n.1219T>A n.1211T>A c.123T>A (p.Ala41=) c.325-1472T>A c.4716T>A (p.Ala1572=) c.4401T>A (p.Ala1467=) c.2298T>A (p.Ala766=) c.4740T>A (p.Ala1580=) c.4731T>A (p.Ala1577=) c.4722T>A (p.Ala1574=) c.3060T>A (p.Ala1020=) | |
X | g.108694825T>C | CA517925593 | COL4A5 | c.4725T>C (p.Ala1575=) c.4707T>C (p.Ala1569=) n.1219T>C n.1211T>C c.123T>C (p.Ala41=) c.325-1472T>C c.4716T>C (p.Ala1572=) c.4401T>C (p.Ala1467=) c.2298T>C (p.Ala766=) c.4740T>C (p.Ala1580=) c.4731T>C (p.Ala1577=) c.4722T>C (p.Ala1574=) c.3060T>C (p.Ala1020=) | |
X | g.108694825T>G | CA517925595 | COL4A5 | c.4725T>G (p.Ala1575=) c.4707T>G (p.Ala1569=) n.1219T>G n.1211T>G c.123T>G (p.Ala41=) c.325-1472T>G c.4716T>G (p.Ala1572=) c.4401T>G (p.Ala1467=) c.2298T>G (p.Ala766=) c.4740T>G (p.Ala1580=) c.4731T>G (p.Ala1577=) c.4722T>G (p.Ala1574=) c.3060T>G (p.Ala1020=) | |
X | g.108694826C>A | CA414132421 | COL4A5 | c.4726C>A (p.Pro1576Thr) c.4708C>A (p.Pro1570Thr) n.1220C>A n.1212C>A c.124C>A (p.Pro42Thr) c.325-1471C>A c.4717C>A (p.Pro1573Thr) c.4402C>A (p.Pro1468Thr) c.2299C>A (p.Pro767Thr) c.4741C>A (p.Pro1581Thr) c.4732C>A (p.Pro1578Thr) c.4723C>A (p.Pro1575Thr) c.3061C>A (p.Pro1021Thr) | |
X | g.108694826C= | CA2450721576 | COL4A5 | c.4726C= (p.Pro1576=) c.4708C= (p.Pro1570=) n.1220C= n.1212C= c.124C= (p.Pro42=) c.325-1471C= c.4717C= (p.Pro1573=) c.4402C= (p.Pro1468=) c.2299C= (p.Pro767=) c.4741C= (p.Pro1581=) c.4732C= (p.Pro1578=) c.4723C= (p.Pro1575=) c.3061C= (p.Pro1021=) | |
X | g.108694826C>G | CA334062938 | COL4A5 | c.4726C>G (p.Pro1576Ala) c.4708C>G (p.Pro1570Ala) n.1220C>G n.1212C>G c.124C>G (p.Pro42Ala) c.325-1471C>G c.4717C>G (p.Pro1573Ala) c.4402C>G (p.Pro1468Ala) c.2299C>G (p.Pro767Ala) c.4741C>G (p.Pro1581Ala) c.4732C>G (p.Pro1578Ala) c.4723C>G (p.Pro1575Ala) c.3061C>G (p.Pro1021Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108694826C>T | CA10489413 | COL4A5 | c.4726C>T (p.Pro1576Ser) c.4708C>T (p.Pro1570Ser) n.1220C>T n.1212C>T c.124C>T (p.Pro42Ser) c.325-1471C>T c.4717C>T (p.Pro1573Ser) c.4402C>T (p.Pro1468Ser) c.2299C>T (p.Pro767Ser) c.4741C>T (p.Pro1581Ser) c.4732C>T (p.Pro1578Ser) c.4723C>T (p.Pro1575Ser) c.3061C>T (p.Pro1021Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108694827del | CA2579677298 | COL4A5 | c.4727del (p.Pro1576GlnfsTer4) c.4709del (p.Pro1570GlnfsTer4) n.1221del n.1213del c.125del (p.Pro42GlnfsTer4) c.325-1470del c.4718del (p.Pro1573GlnfsTer4) c.4403del (p.Pro1468GlnfsTer4) c.2300del (p.Pro767GlnfsTer4) c.4742del (p.Pro1581GlnfsTer4) c.4733del (p.Pro1578GlnfsTer4) c.4724del (p.Pro1575GlnfsTer4) c.3062del (p.Pro1021GlnfsTer4) | |
X | g.108694827C>A | CA414132422 | COL4A5 | c.4727C>A (p.Pro1576Gln) c.4709C>A (p.Pro1570Gln) n.1221C>A n.1213C>A c.125C>A (p.Pro42Gln) c.325-1470C>A c.4718C>A (p.Pro1573Gln) c.4403C>A (p.Pro1468Gln) c.2300C>A (p.Pro767Gln) c.4742C>A (p.Pro1581Gln) c.4733C>A (p.Pro1578Gln) c.4724C>A (p.Pro1575Gln) c.3062C>A (p.Pro1021Gln) | |
X | g.108694827C>G | CA414132423 | COL4A5 | c.4727C>G (p.Pro1576Arg) c.4709C>G (p.Pro1570Arg) n.1221C>G n.1213C>G c.125C>G (p.Pro42Arg) c.325-1470C>G c.4718C>G (p.Pro1573Arg) c.4403C>G (p.Pro1468Arg) c.2300C>G (p.Pro767Arg) c.4742C>G (p.Pro1581Arg) c.4733C>G (p.Pro1578Arg) c.4724C>G (p.Pro1575Arg) c.3062C>G (p.Pro1021Arg) | |
X | g.108694827C>T | CA414132424 | COL4A5 | c.4727C>T (p.Pro1576Leu) c.4709C>T (p.Pro1570Leu) n.1221C>T n.1213C>T c.125C>T (p.Pro42Leu) c.325-1470C>T c.4718C>T (p.Pro1573Leu) c.4403C>T (p.Pro1468Leu) c.2300C>T (p.Pro767Leu) c.4742C>T (p.Pro1581Leu) c.4733C>T (p.Pro1578Leu) c.4724C>T (p.Pro1575Leu) c.3062C>T (p.Pro1021Leu) | |
X | g.108694828A>C | CA517925609 | COL4A5 | c.4728A>C (p.Pro1576=) c.4710A>C (p.Pro1570=) n.1222A>C n.1214A>C c.126A>C (p.Pro42=) c.325-1469A>C c.4719A>C (p.Pro1573=) c.4404A>C (p.Pro1468=) c.2301A>C (p.Pro767=) c.4743A>C (p.Pro1581=) c.4734A>C (p.Pro1578=) c.4725A>C (p.Pro1575=) c.3063A>C (p.Pro1021=) | |
X | g.108694828A>G | CA517925610 | COL4A5 | c.4728A>G (p.Pro1576=) c.4710A>G (p.Pro1570=) n.1222A>G n.1214A>G c.126A>G (p.Pro42=) c.325-1469A>G c.4719A>G (p.Pro1573=) c.4404A>G (p.Pro1468=) c.2301A>G (p.Pro767=) c.4743A>G (p.Pro1581=) c.4734A>G (p.Pro1578=) c.4725A>G (p.Pro1575=) c.3063A>G (p.Pro1021=) | |
X | g.108694828A>T | CA517925612 | COL4A5 | c.4728A>T (p.Pro1576=) c.4710A>T (p.Pro1570=) n.1222A>T n.1214A>T c.126A>T (p.Pro42=) c.325-1469A>T c.4719A>T (p.Pro1573=) c.4404A>T (p.Pro1468=) c.2301A>T (p.Pro767=) c.4743A>T (p.Pro1581=) c.4734A>T (p.Pro1578=) c.4725A>T (p.Pro1575=) c.3063A>T (p.Pro1021=) | |
X | g.108694829G>A | CA414132425 | COL4A5 | c.4729G>A (p.Ala1577Thr) c.4711G>A (p.Ala1571Thr) n.1223G>A n.1215G>A c.127G>A (p.Ala43Thr) c.325-1468G>A c.4720G>A (p.Ala1574Thr) c.4405G>A (p.Ala1469Thr) c.2302G>A (p.Ala768Thr) c.4744G>A (p.Ala1582Thr) c.4735G>A (p.Ala1579Thr) c.4726G>A (p.Ala1576Thr) c.3064G>A (p.Ala1022Thr) | |
X | g.108694829G>C | CA414132426 | COL4A5 | c.4729G>C (p.Ala1577Pro) c.4711G>C (p.Ala1571Pro) n.1223G>C n.1215G>C c.127G>C (p.Ala43Pro) c.325-1468G>C c.4720G>C (p.Ala1574Pro) c.4405G>C (p.Ala1469Pro) c.2302G>C (p.Ala768Pro) c.4744G>C (p.Ala1582Pro) c.4735G>C (p.Ala1579Pro) c.4726G>C (p.Ala1576Pro) c.3064G>C (p.Ala1022Pro) | |
X | g.108694829G>T | CA414132427 | COL4A5 | c.4729G>T (p.Ala1577Ser) c.4711G>T (p.Ala1571Ser) n.1223G>T n.1215G>T c.127G>T (p.Ala43Ser) c.325-1468G>T c.4720G>T (p.Ala1574Ser) c.4405G>T (p.Ala1469Ser) c.2302G>T (p.Ala768Ser) c.4744G>T (p.Ala1582Ser) c.4735G>T (p.Ala1579Ser) c.4726G>T (p.Ala1576Ser) c.3064G>T (p.Ala1022Ser) | |
X | g.108694830C>A | CA414132428 | COL4A5 | c.4730C>A (p.Ala1577Asp) c.4712C>A (p.Ala1571Asp) n.1224C>A n.1216C>A c.128C>A (p.Ala43Asp) c.325-1467C>A c.4721C>A (p.Ala1574Asp) c.4406C>A (p.Ala1469Asp) c.2303C>A (p.Ala768Asp) c.4745C>A (p.Ala1582Asp) c.4736C>A (p.Ala1579Asp) c.4727C>A (p.Ala1576Asp) c.3065C>A (p.Ala1022Asp) | |
X | g.108694830C>G | CA414132429 | COL4A5 | c.4730C>G (p.Ala1577Gly) c.4712C>G (p.Ala1571Gly) n.1224C>G n.1216C>G c.128C>G (p.Ala43Gly) c.325-1467C>G c.4721C>G (p.Ala1574Gly) c.4406C>G (p.Ala1469Gly) c.2303C>G (p.Ala768Gly) c.4745C>G (p.Ala1582Gly) c.4736C>G (p.Ala1579Gly) c.4727C>G (p.Ala1576Gly) c.3065C>G (p.Ala1022Gly) | |
X | g.108694830C>T | CA414132430 | COL4A5 | c.4730C>T (p.Ala1577Val) c.4712C>T (p.Ala1571Val) n.1224C>T n.1216C>T c.128C>T (p.Ala43Val) c.325-1467C>T c.4721C>T (p.Ala1574Val) c.4406C>T (p.Ala1469Val) c.2303C>T (p.Ala768Val) c.4745C>T (p.Ala1582Val) c.4736C>T (p.Ala1579Val) c.4727C>T (p.Ala1576Val) c.3065C>T (p.Ala1022Val) | |
X | g.108694831T>A | CA517925619 | COL4A5 | c.4731T>A (p.Ala1577=) c.4713T>A (p.Ala1571=) n.1225T>A n.1217T>A c.129T>A (p.Ala43=) c.325-1466T>A c.4722T>A (p.Ala1574=) c.4407T>A (p.Ala1469=) c.2304T>A (p.Ala768=) c.4746T>A (p.Ala1582=) c.4737T>A (p.Ala1579=) c.4728T>A (p.Ala1576=) c.3066T>A (p.Ala1022=) | |
X | g.108694831T>C | CA517925620 | COL4A5 | c.4731T>C (p.Ala1577=) c.4713T>C (p.Ala1571=) n.1225T>C n.1217T>C c.129T>C (p.Ala43=) c.325-1466T>C c.4722T>C (p.Ala1574=) c.4407T>C (p.Ala1469=) c.2304T>C (p.Ala768=) c.4746T>C (p.Ala1582=) c.4737T>C (p.Ala1579=) c.4728T>C (p.Ala1576=) c.3066T>C (p.Ala1022=) | |
X | g.108694831T>G | CA517925621 | COL4A5 | c.4731T>G (p.Ala1577=) c.4713T>G (p.Ala1571=) n.1225T>G n.1217T>G c.129T>G (p.Ala43=) c.325-1466T>G c.4722T>G (p.Ala1574=) c.4407T>G (p.Ala1469=) c.2304T>G (p.Ala768=) c.4746T>G (p.Ala1582=) c.4737T>G (p.Ala1579=) c.4728T>G (p.Ala1576=) c.3066T>G (p.Ala1022=) | |
X | g.108694831_108694839dup | CA2739290550 | COL4A5 | c.4731_4739dup (p.Ile1580_Ala1581insValValIle) c.4713_4721dup (p.Ile1574_Ala1575insValValIle) n.1225_1233dup n.1217_1225dup c.129_137dup (p.Ile46_Ala47insValValIle) c.325-1466_325-1458dup c.4722_4730dup (p.Ile1577_Ala1578insValValIle) c.4407_4415dup (p.Ile1472_Ala1473insValValIle) c.2304_2312dup (p.Ile771_Ala772insValValIle) c.4746_4754dup (p.Ile1585_Ala1586insValValIle) c.4737_4745dup (p.Ile1582_Ala1583insValValIle) c.4728_4736dup (p.Ile1579_Ala1580insValValIle) c.3066_3074dup (p.Ile1025_Ala1026insValValIle) | |
X | g.108694832G>A | CA10489414 | COL4A5 | c.4732G>A (p.Val1578Met) c.4714G>A (p.Val1572Met) n.1226G>A n.1218G>A c.130G>A (p.Val44Met) c.325-1465G>A c.4723G>A (p.Val1575Met) c.4408G>A (p.Val1470Met) c.2305G>A (p.Val769Met) c.4747G>A (p.Val1583Met) c.4738G>A (p.Val1580Met) c.4729G>A (p.Val1577Met) c.3067G>A (p.Val1023Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108694832G>C | CA414132431 | COL4A5 | c.4732G>C (p.Val1578Leu) c.4714G>C (p.Val1572Leu) n.1226G>C n.1218G>C c.130G>C (p.Val44Leu) c.325-1465G>C c.4723G>C (p.Val1575Leu) c.4408G>C (p.Val1470Leu) c.2305G>C (p.Val769Leu) c.4747G>C (p.Val1583Leu) c.4738G>C (p.Val1580Leu) c.4729G>C (p.Val1577Leu) c.3067G>C (p.Val1023Leu) | |
X | g.108694832G= | CA2450721577 | COL4A5 | c.4732G= (p.Val1578=) c.4714G= (p.Val1572=) n.1226G= n.1218G= c.130G= (p.Val44=) c.325-1465G= c.4723G= (p.Val1575=) c.4408G= (p.Val1470=) c.2305G= (p.Val769=) c.4747G= (p.Val1583=) c.4738G= (p.Val1580=) c.4729G= (p.Val1577=) c.3067G= (p.Val1023=) | |
X | g.108694832G>T | CA414132432 | COL4A5 | c.4732G>T (p.Val1578Leu) c.4714G>T (p.Val1572Leu) n.1226G>T n.1218G>T c.130G>T (p.Val44Leu) c.325-1465G>T c.4723G>T (p.Val1575Leu) c.4408G>T (p.Val1470Leu) c.2305G>T (p.Val769Leu) c.4747G>T (p.Val1583Leu) c.4738G>T (p.Val1580Leu) c.4729G>T (p.Val1577Leu) c.3067G>T (p.Val1023Leu) | |
X | g.108694833T>A | CA414132433 | COL4A5 | c.4733T>A (p.Val1578Glu) c.4715T>A (p.Val1572Glu) n.1227T>A n.1219T>A c.131T>A (p.Val44Glu) c.325-1464T>A c.4724T>A (p.Val1575Glu) c.4409T>A (p.Val1470Glu) c.2306T>A (p.Val769Glu) c.4748T>A (p.Val1583Glu) c.4739T>A (p.Val1580Glu) c.4730T>A (p.Val1577Glu) c.3068T>A (p.Val1023Glu) | |
X | g.108694833T>C | CA414132435 | COL4A5 | c.4733T>C (p.Val1578Ala) c.4715T>C (p.Val1572Ala) n.1227T>C n.1219T>C c.131T>C (p.Val44Ala) c.325-1464T>C c.4724T>C (p.Val1575Ala) c.4409T>C (p.Val1470Ala) c.2306T>C (p.Val769Ala) c.4748T>C (p.Val1583Ala) c.4739T>C (p.Val1580Ala) c.4730T>C (p.Val1577Ala) c.3068T>C (p.Val1023Ala) | |
X | g.108694833T>G | CA414132434 | COL4A5 | c.4733T>G (p.Val1578Gly) c.4715T>G (p.Val1572Gly) n.1227T>G n.1219T>G c.131T>G (p.Val44Gly) c.325-1464T>G c.4724T>G (p.Val1575Gly) c.4409T>G (p.Val1470Gly) c.2306T>G (p.Val769Gly) c.4748T>G (p.Val1583Gly) c.4739T>G (p.Val1580Gly) c.4730T>G (p.Val1577Gly) c.3068T>G (p.Val1023Gly) | |
X | g.108694834G>A | CA517925633 | COL4A5 | c.4734G>A (p.Val1578=) c.4716G>A (p.Val1572=) n.1228G>A n.1220G>A c.132G>A (p.Val44=) c.325-1463G>A c.4725G>A (p.Val1575=) c.4410G>A (p.Val1470=) c.2307G>A (p.Val769=) c.4749G>A (p.Val1583=) c.4740G>A (p.Val1580=) c.4731G>A (p.Val1577=) c.3069G>A (p.Val1023=) | |
X | g.108694834G>C | CA517925635 | COL4A5 | c.4734G>C (p.Val1578=) c.4716G>C (p.Val1572=) n.1228G>C n.1220G>C c.132G>C (p.Val44=) c.325-1463G>C c.4725G>C (p.Val1575=) c.4410G>C (p.Val1470=) c.2307G>C (p.Val769=) c.4749G>C (p.Val1583=) c.4740G>C (p.Val1580=) c.4731G>C (p.Val1577=) c.3069G>C (p.Val1023=) | gnomAD v4 |
X | g.108694834G>T | CA517925637 | COL4A5 | c.4734G>T (p.Val1578=) c.4716G>T (p.Val1572=) n.1228G>T n.1220G>T c.132G>T (p.Val44=) c.325-1463G>T c.4725G>T (p.Val1575=) c.4410G>T (p.Val1470=) c.2307G>T (p.Val769=) c.4749G>T (p.Val1583=) c.4740G>T (p.Val1580=) c.4731G>T (p.Val1577=) c.3069G>T (p.Val1023=) | |
X | g.108694835G>A | CA414132436 | COL4A5 | c.4735G>A (p.Val1579Met) c.4717G>A (p.Val1573Met) n.1229G>A n.1221G>A c.133G>A (p.Val45Met) c.325-1462G>A c.4726G>A (p.Val1576Met) c.4411G>A (p.Val1471Met) c.2308G>A (p.Val770Met) c.4750G>A (p.Val1584Met) c.4741G>A (p.Val1581Met) c.4732G>A (p.Val1578Met) c.3070G>A (p.Val1024Met) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108694835G>C | CA414132437 | COL4A5 | c.4735G>C (p.Val1579Leu) c.4717G>C (p.Val1573Leu) n.1229G>C n.1221G>C c.133G>C (p.Val45Leu) c.325-1462G>C c.4726G>C (p.Val1576Leu) c.4411G>C (p.Val1471Leu) c.2308G>C (p.Val770Leu) c.4750G>C (p.Val1584Leu) c.4741G>C (p.Val1581Leu) c.4732G>C (p.Val1578Leu) c.3070G>C (p.Val1024Leu) | |
X | g.108694835G= | CA2450721578 | COL4A5 | c.4735G= (p.Val1579=) c.4717G= (p.Val1573=) n.1229G= n.1221G= c.133G= (p.Val45=) c.325-1462G= c.4726G= (p.Val1576=) c.4411G= (p.Val1471=) c.2308G= (p.Val770=) c.4750G= (p.Val1584=) c.4741G= (p.Val1581=) c.4732G= (p.Val1578=) c.3070G= (p.Val1024=) | |
X | g.108694835G>T | CA414132438 | COL4A5 | c.4735G>T (p.Val1579Leu) c.4717G>T (p.Val1573Leu) n.1229G>T n.1221G>T c.133G>T (p.Val45Leu) c.325-1462G>T c.4726G>T (p.Val1576Leu) c.4411G>T (p.Val1471Leu) c.2308G>T (p.Val770Leu) c.4750G>T (p.Val1584Leu) c.4741G>T (p.Val1581Leu) c.4732G>T (p.Val1578Leu) c.3070G>T (p.Val1024Leu) | gnomAD v4 |
X | g.108694836T>A | CA414132439 | COL4A5 | c.4736T>A (p.Val1579Glu) c.4718T>A (p.Val1573Glu) n.1230T>A n.1222T>A c.134T>A (p.Val45Glu) c.325-1461T>A c.4727T>A (p.Val1576Glu) c.4412T>A (p.Val1471Glu) c.2309T>A (p.Val770Glu) c.4751T>A (p.Val1584Glu) c.4742T>A (p.Val1581Glu) c.4733T>A (p.Val1578Glu) c.3071T>A (p.Val1024Glu) | COSMIC COSMIC |
X | g.108694836T>C | CA414132440 | COL4A5 | c.4736T>C (p.Val1579Ala) c.4718T>C (p.Val1573Ala) n.1230T>C n.1222T>C c.134T>C (p.Val45Ala) c.325-1461T>C c.4727T>C (p.Val1576Ala) c.4412T>C (p.Val1471Ala) c.2309T>C (p.Val770Ala) c.4751T>C (p.Val1584Ala) c.4742T>C (p.Val1581Ala) c.4733T>C (p.Val1578Ala) c.3071T>C (p.Val1024Ala) | |
X | g.108694836T>G | CA414132441 | COL4A5 | c.4736T>G (p.Val1579Gly) c.4718T>G (p.Val1573Gly) n.1230T>G n.1222T>G c.134T>G (p.Val45Gly) c.325-1461T>G c.4727T>G (p.Val1576Gly) c.4412T>G (p.Val1471Gly) c.2309T>G (p.Val770Gly) c.4751T>G (p.Val1584Gly) c.4742T>G (p.Val1581Gly) c.4733T>G (p.Val1578Gly) c.3071T>G (p.Val1024Gly) | COSMIC COSMIC |
X | g.108694837G>A | CA10489415 | COL4A5 | c.4737G>A (p.Val1579=) c.4719G>A (p.Val1573=) n.1231G>A n.1223G>A c.135G>A (p.Val45=) c.325-1460G>A c.4728G>A (p.Val1576=) c.4413G>A (p.Val1471=) c.2310G>A (p.Val770=) c.4752G>A (p.Val1584=) c.4743G>A (p.Val1581=) c.4734G>A (p.Val1578=) c.3072G>A (p.Val1024=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108694837G>C | CA517925651 | COL4A5 | c.4737G>C (p.Val1579=) c.4719G>C (p.Val1573=) n.1231G>C n.1223G>C c.135G>C (p.Val45=) c.325-1460G>C c.4728G>C (p.Val1576=) c.4413G>C (p.Val1471=) c.2310G>C (p.Val770=) c.4752G>C (p.Val1584=) c.4743G>C (p.Val1581=) c.4734G>C (p.Val1578=) c.3072G>C (p.Val1024=) | |
X | g.108694837G= | CA2450721579 | COL4A5 | c.4737G= (p.Val1579=) c.4719G= (p.Val1573=) n.1231G= n.1223G= c.135G= (p.Val45=) c.325-1460G= c.4728G= (p.Val1576=) c.4413G= (p.Val1471=) c.2310G= (p.Val770=) c.4752G= (p.Val1584=) c.4743G= (p.Val1581=) c.4734G= (p.Val1578=) c.3072G= (p.Val1024=) | |
X | g.108694837G>T | CA517925654 | COL4A5 | c.4737G>T (p.Val1579=) c.4719G>T (p.Val1573=) n.1231G>T n.1223G>T c.135G>T (p.Val45=) c.325-1460G>T c.4728G>T (p.Val1576=) c.4413G>T (p.Val1471=) c.2310G>T (p.Val770=) c.4752G>T (p.Val1584=) c.4743G>T (p.Val1581=) c.4734G>T (p.Val1578=) c.3072G>T (p.Val1024=) | |
X | g.108694838A>C | CA414132442 | COL4A5 | c.4738A>C (p.Ile1580Leu) c.4720A>C (p.Ile1574Leu) n.1232A>C n.1224A>C c.136A>C (p.Ile46Leu) c.325-1459A>C c.4729A>C (p.Ile1577Leu) c.4414A>C (p.Ile1472Leu) c.2311A>C (p.Ile771Leu) c.4753A>C (p.Ile1585Leu) c.4744A>C (p.Ile1582Leu) c.4735A>C (p.Ile1579Leu) c.3073A>C (p.Ile1025Leu) | |
X | g.108694838A>G | CA414132443 | COL4A5 | c.4738A>G (p.Ile1580Val) c.4720A>G (p.Ile1574Val) n.1232A>G n.1224A>G c.136A>G (p.Ile46Val) c.325-1459A>G c.4729A>G (p.Ile1577Val) c.4414A>G (p.Ile1472Val) c.2311A>G (p.Ile771Val) c.4753A>G (p.Ile1585Val) c.4744A>G (p.Ile1582Val) c.4735A>G (p.Ile1579Val) c.3073A>G (p.Ile1025Val) | |
X | g.108694838A>T | CA414132444 | COL4A5 | c.4738A>T (p.Ile1580Phe) c.4720A>T (p.Ile1574Phe) n.1232A>T n.1224A>T c.136A>T (p.Ile46Phe) c.325-1459A>T c.4729A>T (p.Ile1577Phe) c.4414A>T (p.Ile1472Phe) c.2311A>T (p.Ile771Phe) c.4753A>T (p.Ile1585Phe) c.4744A>T (p.Ile1582Phe) c.4735A>T (p.Ile1579Phe) c.3073A>T (p.Ile1025Phe) | gnomAD v4 |
X | g.108694839T>A | CA414132445 | COL4A5 | c.4739T>A (p.Ile1580Asn) c.4721T>A (p.Ile1574Asn) n.1233T>A n.1225T>A c.137T>A (p.Ile46Asn) c.325-1458T>A c.4730T>A (p.Ile1577Asn) c.4415T>A (p.Ile1472Asn) c.2312T>A (p.Ile771Asn) c.4754T>A (p.Ile1585Asn) c.4745T>A (p.Ile1582Asn) c.4736T>A (p.Ile1579Asn) c.3074T>A (p.Ile1025Asn) | |
X | g.108694839T>C | CA414132446 | COL4A5 | c.4739T>C (p.Ile1580Thr) c.4721T>C (p.Ile1574Thr) n.1233T>C n.1225T>C c.137T>C (p.Ile46Thr) c.325-1458T>C c.4730T>C (p.Ile1577Thr) c.4415T>C (p.Ile1472Thr) c.2312T>C (p.Ile771Thr) c.4754T>C (p.Ile1585Thr) c.4745T>C (p.Ile1582Thr) c.4736T>C (p.Ile1579Thr) c.3074T>C (p.Ile1025Thr) | |
X | g.108694839T>G | CA414132447 | COL4A5 | c.4739T>G (p.Ile1580Ser) c.4721T>G (p.Ile1574Ser) n.1233T>G n.1225T>G c.137T>G (p.Ile46Ser) c.325-1458T>G c.4730T>G (p.Ile1577Ser) c.4415T>G (p.Ile1472Ser) c.2312T>G (p.Ile771Ser) c.4754T>G (p.Ile1585Ser) c.4745T>G (p.Ile1582Ser) c.4736T>G (p.Ile1579Ser) c.3074T>G (p.Ile1025Ser) | |
X | g.108694840C>A | CA517925665 | COL4A5 | c.4740C>A (p.Ile1580=) c.4722C>A (p.Ile1574=) n.1234C>A n.1226C>A c.138C>A (p.Ile46=) c.325-1457C>A c.4731C>A (p.Ile1577=) c.4416C>A (p.Ile1472=) c.2313C>A (p.Ile771=) c.4755C>A (p.Ile1585=) c.4746C>A (p.Ile1582=) c.4737C>A (p.Ile1579=) c.3075C>A (p.Ile1025=) | |
X | g.108694840C= | CA2450721580 | COL4A5 | c.4740C= (p.Ile1580=) c.4722C= (p.Ile1574=) n.1234C= n.1226C= c.138C= (p.Ile46=) c.325-1457C= c.4731C= (p.Ile1577=) c.4416C= (p.Ile1472=) c.2313C= (p.Ile771=) c.4755C= (p.Ile1585=) c.4746C= (p.Ile1582=) c.4737C= (p.Ile1579=) c.3075C= (p.Ile1025=) | |
X | g.108694840C>G | CA414132448 | COL4A5 | c.4740C>G (p.Ile1580Met) c.4722C>G (p.Ile1574Met) n.1234C>G n.1226C>G c.138C>G (p.Ile46Met) c.325-1457C>G c.4731C>G (p.Ile1577Met) c.4416C>G (p.Ile1472Met) c.2313C>G (p.Ile771Met) c.4755C>G (p.Ile1585Met) c.4746C>G (p.Ile1582Met) c.4737C>G (p.Ile1579Met) c.3075C>G (p.Ile1025Met) | dbSNP |
X | g.108694840C>T | CA334062953 | COL4A5 | c.4740C>T (p.Ile1580=) c.4722C>T (p.Ile1574=) n.1234C>T n.1226C>T c.138C>T (p.Ile46=) c.325-1457C>T c.4731C>T (p.Ile1577=) c.4416C>T (p.Ile1472=) c.2313C>T (p.Ile771=) c.4755C>T (p.Ile1585=) c.4746C>T (p.Ile1582=) c.4737C>T (p.Ile1579=) c.3075C>T (p.Ile1025=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.108694841G>A | CA414132449 | COL4A5 | c.4741G>A (p.Ala1581Thr) c.4723G>A (p.Ala1575Thr) n.1235G>A n.1227G>A c.139G>A (p.Ala47Thr) c.325-1456G>A c.4732G>A (p.Ala1578Thr) c.4417G>A (p.Ala1473Thr) c.2314G>A (p.Ala772Thr) c.4756G>A (p.Ala1586Thr) c.4747G>A (p.Ala1583Thr) c.4738G>A (p.Ala1580Thr) c.3076G>A (p.Ala1026Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.108694841G>C | CA414132450 | COL4A5 | c.4741G>C (p.Ala1581Pro) c.4723G>C (p.Ala1575Pro) n.1235G>C n.1227G>C c.139G>C (p.Ala47Pro) c.325-1456G>C c.4732G>C (p.Ala1578Pro) c.4417G>C (p.Ala1473Pro) c.2314G>C (p.Ala772Pro) c.4756G>C (p.Ala1586Pro) c.4747G>C (p.Ala1583Pro) c.4738G>C (p.Ala1580Pro) c.3076G>C (p.Ala1026Pro) | |
X | g.108694841G= | CA2450721581 | COL4A5 | c.4741G= (p.Ala1581=) c.4723G= (p.Ala1575=) n.1235G= n.1227G= c.139G= (p.Ala47=) c.325-1456G= c.4732G= (p.Ala1578=) c.4417G= (p.Ala1473=) c.2314G= (p.Ala772=) c.4756G= (p.Ala1586=) c.4747G= (p.Ala1583=) c.4738G= (p.Ala1580=) c.3076G= (p.Ala1026=) | |
X | g.108694841G>T | CA10489416 | COL4A5 | c.4741G>T (p.Ala1581Ser) c.4723G>T (p.Ala1575Ser) n.1235G>T n.1227G>T c.139G>T (p.Ala47Ser) c.325-1456G>T c.4732G>T (p.Ala1578Ser) c.4417G>T (p.Ala1473Ser) c.2314G>T (p.Ala772Ser) c.4756G>T (p.Ala1586Ser) c.4747G>T (p.Ala1583Ser) c.4738G>T (p.Ala1580Ser) c.3076G>T (p.Ala1026Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108694842C>A | CA414132451 | COL4A5 | c.4742C>A (p.Ala1581Glu) c.4724C>A (p.Ala1575Glu) n.1236C>A n.1228C>A c.140C>A (p.Ala47Glu) c.325-1455C>A c.4733C>A (p.Ala1578Glu) c.4418C>A (p.Ala1473Glu) c.2315C>A (p.Ala772Glu) c.4757C>A (p.Ala1586Glu) c.4748C>A (p.Ala1583Glu) c.4739C>A (p.Ala1580Glu) c.3077C>A (p.Ala1026Glu) | |
X | g.108694842C>G | CA414132452 | COL4A5 | c.4742C>G (p.Ala1581Gly) c.4724C>G (p.Ala1575Gly) n.1236C>G n.1228C>G c.140C>G (p.Ala47Gly) c.325-1455C>G c.4733C>G (p.Ala1578Gly) c.4418C>G (p.Ala1473Gly) c.2315C>G (p.Ala772Gly) c.4757C>G (p.Ala1586Gly) c.4748C>G (p.Ala1583Gly) c.4739C>G (p.Ala1580Gly) c.3077C>G (p.Ala1026Gly) | |
X | g.108694842C>T | CA414132453 | COL4A5 | c.4742C>T (p.Ala1581Val) c.4724C>T (p.Ala1575Val) n.1236C>T n.1228C>T c.140C>T (p.Ala47Val) c.325-1455C>T c.4733C>T (p.Ala1578Val) c.4418C>T (p.Ala1473Val) c.2315C>T (p.Ala772Val) c.4757C>T (p.Ala1586Val) c.4748C>T (p.Ala1583Val) c.4739C>T (p.Ala1580Val) c.3077C>T (p.Ala1026Val) | |
X | g.108694842_108694843delinsCA | CA2450721582 | COL4A5 | c.4742_4743delinsCA (p.Ala1581=) c.4724_4725delinsCA (p.Ala1575=) n.1236_1237delinsCA n.1228_1229delinsCA c.140_141delinsCA (p.Ala47=) c.325-1455_325-1454delinsCA c.4733_4734delinsCA (p.Ala1578=) c.4418_4419delinsCA (p.Ala1473=) c.2315_2316delinsCA (p.Ala772=) c.4757_4758delinsCA (p.Ala1586=) c.4748_4749delinsCA (p.Ala1583=) c.4739_4740delinsCA (p.Ala1580=) c.3077_3078delinsCA (p.Ala1026=) | |
X | g.108694843del | CA891843695 | COL4A5 | c.4743del (p.Val1582PhefsTer25) c.4725del (p.Val1576PhefsTer25) n.1237del n.1229del c.141del (p.Val48PhefsTer25) c.325-1454del c.4734del (p.Val1579PhefsTer25) c.4419del (p.Val1474PhefsTer25) c.2316del (p.Val773PhefsTer25) c.4758del (p.Val1587PhefsTer25) c.4749del (p.Val1584PhefsTer25) c.4740del (p.Val1581PhefsTer25) c.3078del (p.Val1027PhefsTer25) | ClinVar dbSNP |
X | g.108694843A>C | CA517925678 | COL4A5 | c.4743A>C (p.Ala1581=) c.4725A>C (p.Ala1575=) n.1237A>C n.1229A>C c.141A>C (p.Ala47=) c.325-1454A>C c.4734A>C (p.Ala1578=) c.4419A>C (p.Ala1473=) c.2316A>C (p.Ala772=) c.4758A>C (p.Ala1586=) c.4749A>C (p.Ala1583=) c.4740A>C (p.Ala1580=) c.3078A>C (p.Ala1026=) | ClinVar |
X | g.108694843A>G | CA517925679 | COL4A5 | c.4743A>G (p.Ala1581=) c.4725A>G (p.Ala1575=) n.1237A>G n.1229A>G c.141A>G (p.Ala47=) c.325-1454A>G c.4734A>G (p.Ala1578=) c.4419A>G (p.Ala1473=) c.2316A>G (p.Ala772=) c.4758A>G (p.Ala1586=) c.4749A>G (p.Ala1583=) c.4740A>G (p.Ala1580=) c.3078A>G (p.Ala1026=) | |
X | g.108694843A>T | CA517925680 | COL4A5 | c.4743A>T (p.Ala1581=) c.4725A>T (p.Ala1575=) n.1237A>T n.1229A>T c.141A>T (p.Ala47=) c.325-1454A>T c.4734A>T (p.Ala1578=) c.4419A>T (p.Ala1473=) c.2316A>T (p.Ala772=) c.4758A>T (p.Ala1586=) c.4749A>T (p.Ala1583=) c.4740A>T (p.Ala1580=) c.3078A>T (p.Ala1026=) | |
X | g.108694844G>A | CA414132454 | COL4A5 | c.4744G>A (p.Val1582Ile) c.4726G>A (p.Val1576Ile) n.1238G>A n.1230G>A c.142G>A (p.Val48Ile) c.325-1453G>A c.4735G>A (p.Val1579Ile) c.4420G>A (p.Val1474Ile) c.2317G>A (p.Val773Ile) c.4759G>A (p.Val1587Ile) c.4750G>A (p.Val1584Ile) c.4741G>A (p.Val1581Ile) c.3079G>A (p.Val1027Ile) | |
X | g.108694844G>C | CA414132455 | COL4A5 | c.4744G>C (p.Val1582Leu) c.4726G>C (p.Val1576Leu) n.1238G>C n.1230G>C c.142G>C (p.Val48Leu) c.325-1453G>C c.4735G>C (p.Val1579Leu) c.4420G>C (p.Val1474Leu) c.2317G>C (p.Val773Leu) c.4759G>C (p.Val1587Leu) c.4750G>C (p.Val1584Leu) c.4741G>C (p.Val1581Leu) c.3079G>C (p.Val1027Leu) | |
X | g.108694844G>T | CA414132456 | COL4A5 | c.4744G>T (p.Val1582Phe) c.4726G>T (p.Val1576Phe) n.1238G>T n.1230G>T c.142G>T (p.Val48Phe) c.325-1453G>T c.4735G>T (p.Val1579Phe) c.4420G>T (p.Val1474Phe) c.2317G>T (p.Val773Phe) c.4759G>T (p.Val1587Phe) c.4750G>T (p.Val1584Phe) c.4741G>T (p.Val1581Phe) c.3079G>T (p.Val1027Phe) | |
X | g.108694845T>A | CA414132457 | COL4A5 | c.4745T>A (p.Val1582Asp) c.4727T>A (p.Val1576Asp) n.1239T>A n.1231T>A c.143T>A (p.Val48Asp) c.325-1452T>A c.4736T>A (p.Val1579Asp) c.4421T>A (p.Val1474Asp) c.2318T>A (p.Val773Asp) c.4760T>A (p.Val1587Asp) c.4751T>A (p.Val1584Asp) c.4742T>A (p.Val1581Asp) c.3080T>A (p.Val1027Asp) | |
X | g.108694845T>C | CA414132458 | COL4A5 | c.4745T>C (p.Val1582Ala) c.4727T>C (p.Val1576Ala) n.1239T>C n.1231T>C c.143T>C (p.Val48Ala) c.325-1452T>C c.4736T>C (p.Val1579Ala) c.4421T>C (p.Val1474Ala) c.2318T>C (p.Val773Ala) c.4760T>C (p.Val1587Ala) c.4751T>C (p.Val1584Ala) c.4742T>C (p.Val1581Ala) c.3080T>C (p.Val1027Ala) | ClinVar dbSNP |
X | g.108694845T>G | CA414132459 | COL4A5 | c.4745T>G (p.Val1582Gly) c.4727T>G (p.Val1576Gly) n.1239T>G n.1231T>G c.143T>G (p.Val48Gly) c.325-1452T>G c.4736T>G (p.Val1579Gly) c.4421T>G (p.Val1474Gly) c.2318T>G (p.Val773Gly) c.4760T>G (p.Val1587Gly) c.4751T>G (p.Val1584Gly) c.4742T>G (p.Val1581Gly) c.3080T>G (p.Val1027Gly) | |
X | g.108694846T>A | CA517925696 | COL4A5 | c.4746T>A (p.Val1582=) c.4728T>A (p.Val1576=) n.1240T>A n.1232T>A c.144T>A (p.Val48=) c.325-1451T>A c.4737T>A (p.Val1579=) c.4422T>A (p.Val1474=) c.2319T>A (p.Val773=) c.4761T>A (p.Val1587=) c.4752T>A (p.Val1584=) c.4743T>A (p.Val1581=) c.3081T>A (p.Val1027=) | |
X | g.108694846T>C | CA517925698 | COL4A5 | c.4746T>C (p.Val1582=) c.4728T>C (p.Val1576=) n.1240T>C n.1232T>C c.144T>C (p.Val48=) c.325-1451T>C c.4737T>C (p.Val1579=) c.4422T>C (p.Val1474=) c.2319T>C (p.Val773=) c.4761T>C (p.Val1587=) c.4752T>C (p.Val1584=) c.4743T>C (p.Val1581=) c.3081T>C (p.Val1027=) | |
X | g.108694846T>G | CA517925699 | COL4A5 | c.4746T>G (p.Val1582=) c.4728T>G (p.Val1576=) n.1240T>G n.1232T>G c.144T>G (p.Val48=) c.325-1451T>G c.4737T>G (p.Val1579=) c.4422T>G (p.Val1474=) c.2319T>G (p.Val773=) c.4761T>G (p.Val1587=) c.4752T>G (p.Val1584=) c.4743T>G (p.Val1581=) c.3081T>G (p.Val1027=) | |
X | g.108694846_108694848delinsTCA | CA2450721583 | COL4A5 | c.4746_4748delinsTCA (p.Val1582=) c.4728_4730delinsTCA (p.Val1576=) n.1240_1242delinsTCA n.1232_1234delinsTCA c.144_146delinsTCA (p.Val48=) c.325-1451_325-1449delinsTCA c.4737_4739delinsTCA (p.Val1579=) c.4422_4424delinsTCA (p.Val1474=) c.2319_2321delinsTCA (p.Val773=) c.4761_4763delinsTCA (p.Val1587=) c.4752_4754delinsTCA (p.Val1584=) c.4743_4745delinsTCA (p.Val1581=) c.3081_3083delinsTCA (p.Val1027=) | |
X | g.108694847C>A | CA414132462 | COL4A5 | c.4747C>A (p.His1583Asn) c.4729C>A (p.His1577Asn) n.1241C>A n.1233C>A c.145C>A (p.His49Asn) c.325-1450C>A c.4738C>A (p.His1580Asn) c.4423C>A (p.His1475Asn) c.2320C>A (p.His774Asn) c.4762C>A (p.His1588Asn) c.4753C>A (p.His1585Asn) c.4744C>A (p.His1582Asn) c.3082C>A (p.His1028Asn) | |
X | g.108694847C>G | CA414132461 | COL4A5 | c.4747C>G (p.His1583Asp) c.4729C>G (p.His1577Asp) n.1241C>G n.1233C>G c.145C>G (p.His49Asp) c.325-1450C>G c.4738C>G (p.His1580Asp) c.4423C>G (p.His1475Asp) c.2320C>G (p.His774Asp) c.4762C>G (p.His1588Asp) c.4753C>G (p.His1585Asp) c.4744C>G (p.His1582Asp) c.3082C>G (p.His1028Asp) | ClinVar |
X | g.108694847C>T | CA414132460 | COL4A5 | c.4747C>T (p.His1583Tyr) c.4729C>T (p.His1577Tyr) n.1241C>T n.1233C>T c.145C>T (p.His49Tyr) c.325-1450C>T c.4738C>T (p.His1580Tyr) c.4423C>T (p.His1475Tyr) c.2320C>T (p.His774Tyr) c.4762C>T (p.His1588Tyr) c.4753C>T (p.His1585Tyr) c.4744C>T (p.His1582Tyr) c.3082C>T (p.His1028Tyr) | |
X | g.108694849_108694850del | CA915951315 | COL4A5 | c.4749_4750del (p.His1583GlnfsTer?) c.4731_4732del (p.His1577GlnfsTer?) n.1243_1244del n.1235_1236del c.147_148del (p.His49GlnfsTer?) c.325-1448_325-1447del c.4740_4741del (p.His1580GlnfsTer?) c.4425_4426del (p.His1475GlnfsTer?) c.2322_2323del (p.His774GlnfsTer?) c.4764_4765del (p.His1588GlnfsTer?) c.4755_4756del (p.His1585GlnfsTer?) c.4746_4747del (p.His1582GlnfsTer?) c.3084_3085del (p.His1028GlnfsTer?) | ClinVar dbSNP |
X | g.108694848A>C | CA414132463 | COL4A5 | c.4748A>C (p.His1583Pro) c.4730A>C (p.His1577Pro) n.1242A>C n.1234A>C c.146A>C (p.His49Pro) c.325-1449A>C c.4739A>C (p.His1580Pro) c.4424A>C (p.His1475Pro) c.2321A>C (p.His774Pro) c.4763A>C (p.His1588Pro) c.4754A>C (p.His1585Pro) c.4745A>C (p.His1582Pro) c.3083A>C (p.His1028Pro) | |
X | g.108694848A>G | CA414132465 | COL4A5 | c.4748A>G (p.His1583Arg) c.4730A>G (p.His1577Arg) n.1242A>G n.1234A>G c.146A>G (p.His49Arg) c.325-1449A>G c.4739A>G (p.His1580Arg) c.4424A>G (p.His1475Arg) c.2321A>G (p.His774Arg) c.4763A>G (p.His1588Arg) c.4754A>G (p.His1585Arg) c.4745A>G (p.His1582Arg) c.3083A>G (p.His1028Arg) | |
X | g.108694848A>T | CA414132464 | COL4A5 | c.4748A>T (p.His1583Leu) c.4730A>T (p.His1577Leu) n.1242A>T n.1234A>T c.146A>T (p.His49Leu) c.325-1449A>T c.4739A>T (p.His1580Leu) c.4424A>T (p.His1475Leu) c.2321A>T (p.His774Leu) c.4763A>T (p.His1588Leu) c.4754A>T (p.His1585Leu) c.4745A>T (p.His1582Leu) c.3083A>T (p.His1028Leu) | |
X | g.108694849C>A | CA414132466 | COL4A5 | c.4749C>A (p.His1583Gln) c.4731C>A (p.His1577Gln) n.1243C>A n.1235C>A c.147C>A (p.His49Gln) c.325-1448C>A c.4740C>A (p.His1580Gln) c.4425C>A (p.His1475Gln) c.2322C>A (p.His774Gln) c.4764C>A (p.His1588Gln) c.4755C>A (p.His1585Gln) c.4746C>A (p.His1582Gln) c.3084C>A (p.His1028Gln) | |
X | g.108694849C>G | CA414132467 | COL4A5 | c.4749C>G (p.His1583Gln) c.4731C>G (p.His1577Gln) n.1243C>G n.1235C>G c.147C>G (p.His49Gln) c.325-1448C>G c.4740C>G (p.His1580Gln) c.4425C>G (p.His1475Gln) c.2322C>G (p.His774Gln) c.4764C>G (p.His1588Gln) c.4755C>G (p.His1585Gln) c.4746C>G (p.His1582Gln) c.3084C>G (p.His1028Gln) | |
X | g.108694849C>T | CA517925700 | COL4A5 | c.4749C>T (p.His1583=) c.4731C>T (p.His1577=) n.1243C>T n.1235C>T c.147C>T (p.His49=) c.325-1448C>T c.4740C>T (p.His1580=) c.4425C>T (p.His1475=) c.2322C>T (p.His774=) c.4764C>T (p.His1588=) c.4755C>T (p.His1585=) c.4746C>T (p.His1582=) c.3084C>T (p.His1028=) | |
X | g.108694852_108694855del | CA2695235247 | COL4A5 | c.4752_4755del (p.Ser1584ArgfsTer22) c.4734_4737del (p.Ser1578ArgfsTer22) n.1246_1249del n.1238_1241del c.150_153del (p.Ser50ArgfsTer22) c.325-1445_325-1442del c.4743_4746del (p.Ser1581ArgfsTer22) c.4428_4431del (p.Ser1476ArgfsTer22) c.2325_2328del (p.Ser775ArgfsTer22) c.4767_4770del (p.Ser1589ArgfsTer22) c.4758_4761del (p.Ser1586ArgfsTer22) c.4749_4752del (p.Ser1583ArgfsTer22) c.3087_3090del (p.Ser1029ArgfsTer22) | |
X | g.108694849_108694856delinsCAGTCAGA | CA2450721584 | COL4A5 | c.4749_4756delinsCAGTCAGA (p.His1583=) c.4731_4738delinsCAGTCAGA (p.His1577=) n.1243_1250delinsCAGTCAGA n.1235_1242delinsCAGTCAGA c.147_154delinsCAGTCAGA (p.His49=) c.325-1448_325-1441delinsCAGTCAGA c.4740_4747delinsCAGTCAGA (p.His1580=) c.4425_4432delinsCAGTCAGA (p.His1475=) c.2322_2329delinsCAGTCAGA (p.His774=) c.4764_4771delinsCAGTCAGA (p.His1588=) c.4755_4762delinsCAGTCAGA (p.His1585=) c.4746_4753delinsCAGTCAGA (p.His1582=) c.3084_3091delinsCAGTCAGA (p.His1028=) | |
X | g.108694850A= | CA2450721585 | COL4A5 | c.4750A= (p.Ser1584=) c.4732A= (p.Ser1578=) n.1244A= n.1236A= c.148A= (p.Ser50=) c.325-1447A= c.4741A= (p.Ser1581=) c.4426A= (p.Ser1476=) c.2323A= (p.Ser775=) c.4765A= (p.Ser1589=) c.4756A= (p.Ser1586=) c.4747A= (p.Ser1583=) c.3085A= (p.Ser1029=) | |
X | g.108694850A>C | CA414132468 | COL4A5 | c.4750A>C (p.Ser1584Arg) c.4732A>C (p.Ser1578Arg) n.1244A>C n.1236A>C c.148A>C (p.Ser50Arg) c.325-1447A>C c.4741A>C (p.Ser1581Arg) c.4426A>C (p.Ser1476Arg) c.2323A>C (p.Ser775Arg) c.4765A>C (p.Ser1589Arg) c.4756A>C (p.Ser1586Arg) c.4747A>C (p.Ser1583Arg) c.3085A>C (p.Ser1029Arg) | |
X | g.108694850A>G | CA414132469 | COL4A5 | c.4750A>G (p.Ser1584Gly) c.4732A>G (p.Ser1578Gly) n.1244A>G n.1236A>G c.148A>G (p.Ser50Gly) c.325-1447A>G c.4741A>G (p.Ser1581Gly) c.4426A>G (p.Ser1476Gly) c.2323A>G (p.Ser775Gly) c.4765A>G (p.Ser1589Gly) c.4756A>G (p.Ser1586Gly) c.4747A>G (p.Ser1583Gly) c.3085A>G (p.Ser1029Gly) | |
X | g.108694850A>T | CA414132470 | COL4A5 | c.4750A>T (p.Ser1584Cys) c.4732A>T (p.Ser1578Cys) n.1244A>T n.1236A>T c.148A>T (p.Ser50Cys) c.325-1447A>T c.4741A>T (p.Ser1581Cys) c.4426A>T (p.Ser1476Cys) c.2323A>T (p.Ser775Cys) c.4765A>T (p.Ser1589Cys) c.4756A>T (p.Ser1586Cys) c.4747A>T (p.Ser1583Cys) c.3085A>T (p.Ser1029Cys) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108694850_108694856del | CA334062955 | COL4A5 | c.4750_4756del (p.Ser1584ArgfsTer21) c.4732_4738del (p.Ser1578ArgfsTer21) n.1244_1250del n.1236_1242del c.148_154del (p.Ser50ArgfsTer21) c.325-1447_325-1441del c.4741_4747del (p.Ser1581ArgfsTer21) c.4426_4432del (p.Ser1476ArgfsTer21) c.2323_2329del (p.Ser775ArgfsTer21) c.4765_4771del (p.Ser1589ArgfsTer21) c.4756_4762del (p.Ser1586ArgfsTer21) c.4747_4753del (p.Ser1583ArgfsTer21) c.3085_3091del (p.Ser1029ArgfsTer21) | dbSNP |
X | g.108694851G>A | CA414132471 | COL4A5 | c.4751G>A (p.Ser1584Asn) c.4733G>A (p.Ser1578Asn) n.1245G>A n.1237G>A c.149G>A (p.Ser50Asn) c.325-1446G>A c.4742G>A (p.Ser1581Asn) c.4427G>A (p.Ser1476Asn) c.2324G>A (p.Ser775Asn) c.4766G>A (p.Ser1589Asn) c.4757G>A (p.Ser1586Asn) c.4748G>A (p.Ser1583Asn) c.3086G>A (p.Ser1029Asn) | |
X | g.108694851G>C | CA414132472 | COL4A5 | c.4751G>C (p.Ser1584Thr) c.4733G>C (p.Ser1578Thr) n.1245G>C n.1237G>C c.149G>C (p.Ser50Thr) c.325-1446G>C c.4742G>C (p.Ser1581Thr) c.4427G>C (p.Ser1476Thr) c.2324G>C (p.Ser775Thr) c.4766G>C (p.Ser1589Thr) c.4757G>C (p.Ser1586Thr) c.4748G>C (p.Ser1583Thr) c.3086G>C (p.Ser1029Thr) | |
X | g.108694851G>T | CA414132473 | COL4A5 | c.4751G>T (p.Ser1584Ile) c.4733G>T (p.Ser1578Ile) n.1245G>T n.1237G>T c.149G>T (p.Ser50Ile) c.325-1446G>T c.4742G>T (p.Ser1581Ile) c.4427G>T (p.Ser1476Ile) c.2324G>T (p.Ser775Ile) c.4766G>T (p.Ser1589Ile) c.4757G>T (p.Ser1586Ile) c.4748G>T (p.Ser1583Ile) c.3086G>T (p.Ser1029Ile) | |
X | g.108694852T>A | CA414132474 | COL4A5 | c.4752T>A (p.Ser1584Arg) c.4734T>A (p.Ser1578Arg) n.1246T>A n.1238T>A c.150T>A (p.Ser50Arg) c.325-1445T>A c.4743T>A (p.Ser1581Arg) c.4428T>A (p.Ser1476Arg) c.2325T>A (p.Ser775Arg) c.4767T>A (p.Ser1589Arg) c.4758T>A (p.Ser1586Arg) c.4749T>A (p.Ser1583Arg) c.3087T>A (p.Ser1029Arg) | |
X | g.108694852T>C | CA517925712 | COL4A5 | c.4752T>C (p.Ser1584=) c.4734T>C (p.Ser1578=) n.1246T>C n.1238T>C c.150T>C (p.Ser50=) c.325-1445T>C c.4743T>C (p.Ser1581=) c.4428T>C (p.Ser1476=) c.2325T>C (p.Ser775=) c.4767T>C (p.Ser1589=) c.4758T>C (p.Ser1586=) c.4749T>C (p.Ser1583=) c.3087T>C (p.Ser1029=) | |
X | g.108694852T>G | CA414132475 | COL4A5 | c.4752T>G (p.Ser1584Arg) c.4734T>G (p.Ser1578Arg) n.1246T>G n.1238T>G c.150T>G (p.Ser50Arg) c.325-1445T>G c.4743T>G (p.Ser1581Arg) c.4428T>G (p.Ser1476Arg) c.2325T>G (p.Ser775Arg) c.4767T>G (p.Ser1589Arg) c.4758T>G (p.Ser1586Arg) c.4749T>G (p.Ser1583Arg) c.3087T>G (p.Ser1029Arg) | |
X | g.108694852_108694853delinsA | CA2580100247 | COL4A5 | c.4752_4753delinsA (p.Ser1584ArgfsTer23) c.4734_4735delinsA (p.Ser1578ArgfsTer23) n.1246_1247delinsA n.1238_1239delinsA c.150_151delinsA (p.Ser50ArgfsTer23) c.325-1445_325-1444delinsA c.4743_4744delinsA (p.Ser1581ArgfsTer23) c.4428_4429delinsA (p.Ser1476ArgfsTer23) c.2325_2326delinsA (p.Ser775ArgfsTer23) c.4767_4768delinsA (p.Ser1589ArgfsTer23) c.4758_4759delinsA (p.Ser1586ArgfsTer23) c.4749_4750delinsA (p.Ser1583ArgfsTer23) c.3087_3088delinsA (p.Ser1029ArgfsTer23) | ClinVar |
X | g.108694853C>A | CA414132478 | COL4A5 | c.4753C>A (p.Gln1585Lys) c.4735C>A (p.Gln1579Lys) n.1247C>A n.1239C>A c.151C>A (p.Gln51Lys) c.325-1444C>A c.4744C>A (p.Gln1582Lys) c.4429C>A (p.Gln1477Lys) c.2326C>A (p.Gln776Lys) c.4768C>A (p.Gln1590Lys) c.4759C>A (p.Gln1587Lys) c.4750C>A (p.Gln1584Lys) c.3088C>A (p.Gln1030Lys) | |
X | g.108694853C>G | CA414132477 | COL4A5 | c.4753C>G (p.Gln1585Glu) c.4735C>G (p.Gln1579Glu) n.1247C>G n.1239C>G c.151C>G (p.Gln51Glu) c.325-1444C>G c.4744C>G (p.Gln1582Glu) c.4429C>G (p.Gln1477Glu) c.2326C>G (p.Gln776Glu) c.4768C>G (p.Gln1590Glu) c.4759C>G (p.Gln1587Glu) c.4750C>G (p.Gln1584Glu) c.3088C>G (p.Gln1030Glu) | |
X | g.108694853C>T | CA414132476 | COL4A5 | c.4753C>T (p.Gln1585Ter) c.4735C>T (p.Gln1579Ter) n.1247C>T n.1239C>T c.151C>T (p.Gln51Ter) c.325-1444C>T c.4744C>T (p.Gln1582Ter) c.4429C>T (p.Gln1477Ter) c.2326C>T (p.Gln776Ter) c.4768C>T (p.Gln1590Ter) c.4759C>T (p.Gln1587Ter) c.4750C>T (p.Gln1584Ter) c.3088C>T (p.Gln1030Ter) | |
X | g.108694854A= | CA2450721586 | COL4A5 | c.4754A= (p.Gln1585=) c.4736A= (p.Gln1579=) n.1248A= n.1240A= c.152A= (p.Gln51=) c.325-1443A= c.4745A= (p.Gln1582=) c.4430A= (p.Gln1477=) c.2327A= (p.Gln776=) c.4769A= (p.Gln1590=) c.4760A= (p.Gln1587=) c.4751A= (p.Gln1584=) c.3089A= (p.Gln1030=) | |
X | g.108694854A>C | CA414132479 | COL4A5 | c.4754A>C (p.Gln1585Pro) c.4736A>C (p.Gln1579Pro) n.1248A>C n.1240A>C c.152A>C (p.Gln51Pro) c.325-1443A>C c.4745A>C (p.Gln1582Pro) c.4430A>C (p.Gln1477Pro) c.2327A>C (p.Gln776Pro) c.4769A>C (p.Gln1590Pro) c.4760A>C (p.Gln1587Pro) c.4751A>C (p.Gln1584Pro) c.3089A>C (p.Gln1030Pro) | |
X | g.108694854A>G | CA414132480 | COL4A5 | c.4754A>G (p.Gln1585Arg) c.4736A>G (p.Gln1579Arg) n.1248A>G n.1240A>G c.152A>G (p.Gln51Arg) c.325-1443A>G c.4745A>G (p.Gln1582Arg) c.4430A>G (p.Gln1477Arg) c.2327A>G (p.Gln776Arg) c.4769A>G (p.Gln1590Arg) c.4760A>G (p.Gln1587Arg) c.4751A>G (p.Gln1584Arg) c.3089A>G (p.Gln1030Arg) | |
X | g.108694854A>T | CA414132481 | COL4A5 | c.4754A>T (p.Gln1585Leu) c.4736A>T (p.Gln1579Leu) n.1248A>T n.1240A>T c.152A>T (p.Gln51Leu) c.325-1443A>T c.4745A>T (p.Gln1582Leu) c.4430A>T (p.Gln1477Leu) c.2327A>T (p.Gln776Leu) c.4769A>T (p.Gln1590Leu) c.4760A>T (p.Gln1587Leu) c.4751A>T (p.Gln1584Leu) c.3089A>T (p.Gln1030Leu) | |
X | g.108694854_108694855insT | CA891843696 | COL4A5 | c.4754_4755insT (p.Gln1585HisfsTer?) c.4736_4737insT (p.Gln1579HisfsTer?) n.1248_1249insT n.1240_1241insT c.152_153insT (p.Gln51HisfsTer31) c.325-1443_325-1442insT c.4745_4746insT (p.Gln1582HisfsTer?) c.4430_4431insT (p.Gln1477HisfsTer?) c.2327_2328insT (p.Gln776HisfsTer?) c.4769_4770insT (p.Gln1590HisfsTer?) c.4760_4761insT (p.Gln1587HisfsTer?) c.4751_4752insT (p.Gln1584HisfsTer?) c.3089_3090insT (p.Gln1030HisfsTer?) | |
X | g.108694855G>A | CA517925728 | COL4A5 | c.4755G>A (p.Gln1585=) c.4737G>A (p.Gln1579=) n.1249G>A n.1241G>A c.153G>A (p.Gln51=) c.325-1442G>A c.4746G>A (p.Gln1582=) c.4431G>A (p.Gln1477=) c.2328G>A (p.Gln776=) c.4770G>A (p.Gln1590=) c.4761G>A (p.Gln1587=) c.4752G>A (p.Gln1584=) c.3090G>A (p.Gln1030=) | |
X | g.108694855G>C | CA414132482 | COL4A5 | c.4755G>C (p.Gln1585His) c.4737G>C (p.Gln1579His) n.1249G>C n.1241G>C c.153G>C (p.Gln51His) c.325-1442G>C c.4746G>C (p.Gln1582His) c.4431G>C (p.Gln1477His) c.2328G>C (p.Gln776His) c.4770G>C (p.Gln1590His) c.4761G>C (p.Gln1587His) c.4752G>C (p.Gln1584His) c.3090G>C (p.Gln1030His) | |
X | g.108694855G>T | CA414132483 | COL4A5 | c.4755G>T (p.Gln1585His) c.4737G>T (p.Gln1579His) n.1249G>T n.1241G>T c.153G>T (p.Gln51His) c.325-1442G>T c.4746G>T (p.Gln1582His) c.4431G>T (p.Gln1477His) c.2328G>T (p.Gln776His) c.4770G>T (p.Gln1590His) c.4761G>T (p.Gln1587His) c.4752G>T (p.Gln1584His) c.3090G>T (p.Gln1030His) | |
X | g.108694856A>C | CA414132484 | COL4A5 | c.4756A>C (p.Thr1586Pro) c.4738A>C (p.Thr1580Pro) n.1250A>C n.1242A>C c.154A>C (p.Thr52Pro) c.325-1441A>C c.4747A>C (p.Thr1583Pro) c.4432A>C (p.Thr1478Pro) c.2329A>C (p.Thr777Pro) c.4771A>C (p.Thr1591Pro) c.4762A>C (p.Thr1588Pro) c.4753A>C (p.Thr1585Pro) c.3091A>C (p.Thr1031Pro) | |
X | g.108694856A>G | CA414132485 | COL4A5 | c.4756A>G (p.Thr1586Ala) c.4738A>G (p.Thr1580Ala) n.1250A>G n.1242A>G c.154A>G (p.Thr52Ala) c.325-1441A>G c.4747A>G (p.Thr1583Ala) c.4432A>G (p.Thr1478Ala) c.2329A>G (p.Thr777Ala) c.4771A>G (p.Thr1591Ala) c.4762A>G (p.Thr1588Ala) c.4753A>G (p.Thr1585Ala) c.3091A>G (p.Thr1031Ala) | COSMIC COSMIC |
X | g.108694856A>T | CA414132486 | COL4A5 | c.4756A>T (p.Thr1586Ser) c.4738A>T (p.Thr1580Ser) n.1250A>T n.1242A>T c.154A>T (p.Thr52Ser) c.325-1441A>T c.4747A>T (p.Thr1583Ser) c.4432A>T (p.Thr1478Ser) c.2329A>T (p.Thr777Ser) c.4771A>T (p.Thr1591Ser) c.4762A>T (p.Thr1588Ser) c.4753A>T (p.Thr1585Ser) c.3091A>T (p.Thr1031Ser) | |
X | g.108694857C>A | CA414132487 | COL4A5 | c.4757C>A (p.Thr1586Lys) c.4739C>A (p.Thr1580Lys) n.1251C>A n.1243C>A c.155C>A (p.Thr52Lys) c.325-1440C>A c.4748C>A (p.Thr1583Lys) c.4433C>A (p.Thr1478Lys) c.2330C>A (p.Thr777Lys) c.4772C>A (p.Thr1591Lys) c.4763C>A (p.Thr1588Lys) c.4754C>A (p.Thr1585Lys) c.3092C>A (p.Thr1031Lys) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108694857C= | CA2450721587 | COL4A5 | c.4757C= (p.Thr1586=) c.4739C= (p.Thr1580=) n.1251C= n.1243C= c.155C= (p.Thr52=) c.325-1440C= c.4748C= (p.Thr1583=) c.4433C= (p.Thr1478=) c.2330C= (p.Thr777=) c.4772C= (p.Thr1591=) c.4763C= (p.Thr1588=) c.4754C= (p.Thr1585=) c.3092C= (p.Thr1031=) | |
X | g.108694857C>G | CA10489417 | COL4A5 | c.4757C>G (p.Thr1586Arg) c.4739C>G (p.Thr1580Arg) n.1251C>G n.1243C>G c.155C>G (p.Thr52Arg) c.325-1440C>G c.4748C>G (p.Thr1583Arg) c.4433C>G (p.Thr1478Arg) c.2330C>G (p.Thr777Arg) c.4772C>G (p.Thr1591Arg) c.4763C>G (p.Thr1588Arg) c.4754C>G (p.Thr1585Arg) c.3092C>G (p.Thr1031Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108694857C>T | CA10489418 | COL4A5 | c.4757C>T (p.Thr1586Met) c.4739C>T (p.Thr1580Met) n.1251C>T n.1243C>T c.155C>T (p.Thr52Met) c.325-1440C>T c.4748C>T (p.Thr1583Met) c.4433C>T (p.Thr1478Met) c.2330C>T (p.Thr777Met) c.4772C>T (p.Thr1591Met) c.4763C>T (p.Thr1588Met) c.4754C>T (p.Thr1585Met) c.3092C>T (p.Thr1031Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.108694858G>A | CA10489419 | COL4A5 | c.4758G>A (p.Thr1586=) c.4740G>A (p.Thr1580=) n.1252G>A n.1244G>A c.156G>A (p.Thr52=) c.325-1439G>A c.4749G>A (p.Thr1583=) c.4434G>A (p.Thr1478=) c.2331G>A (p.Thr777=) c.4773G>A (p.Thr1591=) c.4764G>A (p.Thr1588=) c.4755G>A (p.Thr1585=) c.3093G>A (p.Thr1031=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108694858G>C | CA517925738 | COL4A5 | c.4758G>C (p.Thr1586=) c.4740G>C (p.Thr1580=) n.1252G>C n.1244G>C c.156G>C (p.Thr52=) c.325-1439G>C c.4749G>C (p.Thr1583=) c.4434G>C (p.Thr1478=) c.2331G>C (p.Thr777=) c.4773G>C (p.Thr1591=) c.4764G>C (p.Thr1588=) c.4755G>C (p.Thr1585=) c.3093G>C (p.Thr1031=) | |
X | g.108694858G= | CA2450721588 | COL4A5 | c.4758G= (p.Thr1586=) c.4740G= (p.Thr1580=) n.1252G= n.1244G= c.156G= (p.Thr52=) c.325-1439G= c.4749G= (p.Thr1583=) c.4434G= (p.Thr1478=) c.2331G= (p.Thr777=) c.4773G= (p.Thr1591=) c.4764G= (p.Thr1588=) c.4755G= (p.Thr1585=) c.3093G= (p.Thr1031=) | |
X | g.108694858G>T | CA517925735 | COL4A5 | c.4758G>T (p.Thr1586=) c.4740G>T (p.Thr1580=) n.1252G>T n.1244G>T c.156G>T (p.Thr52=) c.325-1439G>T c.4749G>T (p.Thr1583=) c.4434G>T (p.Thr1478=) c.2331G>T (p.Thr777=) c.4773G>T (p.Thr1591=) c.4764G>T (p.Thr1588=) c.4755G>T (p.Thr1585=) c.3093G>T (p.Thr1031=) | ClinVar dbSNP gnomAD v4 |
X | g.108694859A>C | CA414132490 | COL4A5 | c.4759A>C (p.Ile1587Leu) c.4741A>C (p.Ile1581Leu) n.1253A>C n.1245A>C c.157A>C (p.Ile53Leu) c.325-1438A>C c.4750A>C (p.Ile1584Leu) c.4435A>C (p.Ile1479Leu) c.2332A>C (p.Ile778Leu) c.4774A>C (p.Ile1592Leu) c.4765A>C (p.Ile1589Leu) c.4756A>C (p.Ile1586Leu) c.3094A>C (p.Ile1032Leu) | |
X | g.108694859A>G | CA414132489 | COL4A5 | c.4759A>G (p.Ile1587Val) c.4741A>G (p.Ile1581Val) n.1253A>G n.1245A>G c.157A>G (p.Ile53Val) c.325-1438A>G c.4750A>G (p.Ile1584Val) c.4435A>G (p.Ile1479Val) c.2332A>G (p.Ile778Val) c.4774A>G (p.Ile1592Val) c.4765A>G (p.Ile1589Val) c.4756A>G (p.Ile1586Val) c.3094A>G (p.Ile1032Val) | |
X | g.108694859A>T | CA414132488 | COL4A5 | c.4759A>T (p.Ile1587Phe) c.4741A>T (p.Ile1581Phe) n.1253A>T n.1245A>T c.157A>T (p.Ile53Phe) c.325-1438A>T c.4750A>T (p.Ile1584Phe) c.4435A>T (p.Ile1479Phe) c.2332A>T (p.Ile778Phe) c.4774A>T (p.Ile1592Phe) c.4765A>T (p.Ile1589Phe) c.4756A>T (p.Ile1586Phe) c.3094A>T (p.Ile1032Phe) | |
X | g.108694860T>A | CA414132491 | COL4A5 | c.4760T>A (p.Ile1587Asn) c.4742T>A (p.Ile1581Asn) n.1254T>A n.1246T>A c.158T>A (p.Ile53Asn) c.325-1437T>A c.4751T>A (p.Ile1584Asn) c.4436T>A (p.Ile1479Asn) c.2333T>A (p.Ile778Asn) c.4775T>A (p.Ile1592Asn) c.4766T>A (p.Ile1589Asn) c.4757T>A (p.Ile1586Asn) c.3095T>A (p.Ile1032Asn) | |
X | g.108694860T>C | CA414132492 | COL4A5 | c.4760T>C (p.Ile1587Thr) c.4742T>C (p.Ile1581Thr) n.1254T>C n.1246T>C c.158T>C (p.Ile53Thr) c.325-1437T>C c.4751T>C (p.Ile1584Thr) c.4436T>C (p.Ile1479Thr) c.2333T>C (p.Ile778Thr) c.4775T>C (p.Ile1592Thr) c.4766T>C (p.Ile1589Thr) c.4757T>C (p.Ile1586Thr) c.3095T>C (p.Ile1032Thr) | |
X | g.108694860T>G | CA414132493 | COL4A5 | c.4760T>G (p.Ile1587Ser) c.4742T>G (p.Ile1581Ser) n.1254T>G n.1246T>G c.158T>G (p.Ile53Ser) c.325-1437T>G c.4751T>G (p.Ile1584Ser) c.4436T>G (p.Ile1479Ser) c.2333T>G (p.Ile778Ser) c.4775T>G (p.Ile1592Ser) c.4766T>G (p.Ile1589Ser) c.4757T>G (p.Ile1586Ser) c.3095T>G (p.Ile1032Ser) | |
X | g.108694861C>A | CA517925754 | COL4A5 | c.4761C>A (p.Ile1587=) c.4743C>A (p.Ile1581=) n.1255C>A n.1247C>A c.159C>A (p.Ile53=) c.325-1436C>A c.4752C>A (p.Ile1584=) c.4437C>A (p.Ile1479=) c.2334C>A (p.Ile778=) c.4776C>A (p.Ile1592=) c.4767C>A (p.Ile1589=) c.4758C>A (p.Ile1586=) c.3096C>A (p.Ile1032=) | |
X | g.108694861C= | CA2450721589 | COL4A5 | c.4761C= (p.Ile1587=) c.4743C= (p.Ile1581=) n.1255C= n.1247C= c.159C= (p.Ile53=) c.325-1436C= c.4752C= (p.Ile1584=) c.4437C= (p.Ile1479=) c.2334C= (p.Ile778=) c.4776C= (p.Ile1592=) c.4767C= (p.Ile1589=) c.4758C= (p.Ile1586=) c.3096C= (p.Ile1032=) | |
X | g.108694861C>G | CA414132494 | COL4A5 | c.4761C>G (p.Ile1587Met) c.4743C>G (p.Ile1581Met) n.1255C>G n.1247C>G c.159C>G (p.Ile53Met) c.325-1436C>G c.4752C>G (p.Ile1584Met) c.4437C>G (p.Ile1479Met) c.2334C>G (p.Ile778Met) c.4776C>G (p.Ile1592Met) c.4767C>G (p.Ile1589Met) c.4758C>G (p.Ile1586Met) c.3096C>G (p.Ile1032Met) | |
X | g.108694861C>T | CA10489420 | COL4A5 | c.4761C>T (p.Ile1587=) c.4743C>T (p.Ile1581=) n.1255C>T n.1247C>T c.159C>T (p.Ile53=) c.325-1436C>T c.4752C>T (p.Ile1584=) c.4437C>T (p.Ile1479=) c.2334C>T (p.Ile778=) c.4776C>T (p.Ile1592=) c.4767C>T (p.Ile1589=) c.4758C>T (p.Ile1586=) c.3096C>T (p.Ile1032=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108694862C>A | CA414132497 | COL4A5 | c.4762C>A (p.Gln1588Lys) c.4744C>A (p.Gln1582Lys) n.1256C>A n.1248C>A c.160C>A (p.Gln54Lys) c.325-1435C>A c.4753C>A (p.Gln1585Lys) c.4438C>A (p.Gln1480Lys) c.2335C>A (p.Gln779Lys) c.4777C>A (p.Gln1593Lys) c.4768C>A (p.Gln1590Lys) c.4759C>A (p.Gln1587Lys) c.3097C>A (p.Gln1033Lys) | |
X | g.108694862C>G | CA414132496 | COL4A5 | c.4762C>G (p.Gln1588Glu) c.4744C>G (p.Gln1582Glu) n.1256C>G n.1248C>G c.160C>G (p.Gln54Glu) c.325-1435C>G c.4753C>G (p.Gln1585Glu) c.4438C>G (p.Gln1480Glu) c.2335C>G (p.Gln779Glu) c.4777C>G (p.Gln1593Glu) c.4768C>G (p.Gln1590Glu) c.4759C>G (p.Gln1587Glu) c.3097C>G (p.Gln1033Glu) | |
X | g.108694862C>T | CA414132495 | COL4A5 | c.4762C>T (p.Gln1588Ter) c.4744C>T (p.Gln1582Ter) n.1256C>T n.1248C>T c.160C>T (p.Gln54Ter) c.325-1435C>T c.4753C>T (p.Gln1585Ter) c.4438C>T (p.Gln1480Ter) c.2335C>T (p.Gln779Ter) c.4777C>T (p.Gln1593Ter) c.4768C>T (p.Gln1590Ter) c.4759C>T (p.Gln1587Ter) c.3097C>T (p.Gln1033Ter) | ClinVar |
X | g.108694862_108694863delinsCA | CA2450721590 | COL4A5 | c.4762_4763delinsCA (p.Gln1588=) c.4744_4745delinsCA (p.Gln1582=) n.1256_1257delinsCA n.1248_1249delinsCA c.160_161delinsCA (p.Gln54=) c.325-1435_325-1434delinsCA c.4753_4754delinsCA (p.Gln1585=) c.4438_4439delinsCA (p.Gln1480=) c.2335_2336delinsCA (p.Gln779=) c.4777_4778delinsCA (p.Gln1593=) c.4768_4769delinsCA (p.Gln1590=) c.4759_4760delinsCA (p.Gln1587=) c.3097_3098delinsCA (p.Gln1033=) | |
X | g.108694863del | CA10654932 | COL4A5 | c.4763del (p.Gln1588ArgfsTer19) c.4745del (p.Gln1582ArgfsTer19) n.1257del n.1249del c.161del (p.Gln54ArgfsTer19) c.325-1434del c.4754del (p.Gln1585ArgfsTer19) c.4439del (p.Gln1480ArgfsTer19) c.2336del (p.Gln779ArgfsTer19) c.4778del (p.Gln1593ArgfsTer19) c.4769del (p.Gln1590ArgfsTer19) c.4760del (p.Gln1587ArgfsTer19) c.3098del (p.Gln1033ArgfsTer19) | ClinVar dbSNP |
X | g.108694863A>C | CA414132498 | COL4A5 | c.4763A>C (p.Gln1588Pro) c.4745A>C (p.Gln1582Pro) n.1257A>C n.1249A>C c.161A>C (p.Gln54Pro) c.325-1434A>C c.4754A>C (p.Gln1585Pro) c.4439A>C (p.Gln1480Pro) c.2336A>C (p.Gln779Pro) c.4778A>C (p.Gln1593Pro) c.4769A>C (p.Gln1590Pro) c.4760A>C (p.Gln1587Pro) c.3098A>C (p.Gln1033Pro) | |
X | g.108694863A>G | CA414132499 | COL4A5 | c.4763A>G (p.Gln1588Arg) c.4745A>G (p.Gln1582Arg) n.1257A>G n.1249A>G c.161A>G (p.Gln54Arg) c.325-1434A>G c.4754A>G (p.Gln1585Arg) c.4439A>G (p.Gln1480Arg) c.2336A>G (p.Gln779Arg) c.4778A>G (p.Gln1593Arg) c.4769A>G (p.Gln1590Arg) c.4760A>G (p.Gln1587Arg) c.3098A>G (p.Gln1033Arg) | |
X | g.108694863A>T | CA414132500 | COL4A5 | c.4763A>T (p.Gln1588Leu) c.4745A>T (p.Gln1582Leu) n.1257A>T n.1249A>T c.161A>T (p.Gln54Leu) c.325-1434A>T c.4754A>T (p.Gln1585Leu) c.4439A>T (p.Gln1480Leu) c.2336A>T (p.Gln779Leu) c.4778A>T (p.Gln1593Leu) c.4769A>T (p.Gln1590Leu) c.4760A>T (p.Gln1587Leu) c.3098A>T (p.Gln1033Leu) | |
X | g.108694864G>A | CA517925781 | COL4A5 | c.4764G>A (p.Gln1588=) c.4746G>A (p.Gln1582=) n.1258G>A n.1250G>A c.162G>A (p.Gln54=) c.325-1433G>A c.4755G>A (p.Gln1585=) c.4440G>A (p.Gln1480=) c.2337G>A (p.Gln779=) c.4779G>A (p.Gln1593=) c.4770G>A (p.Gln1590=) c.4761G>A (p.Gln1587=) c.3099G>A (p.Gln1033=) | |
X | g.108694864G>C | CA414132501 | COL4A5 | c.4764G>C (p.Gln1588His) c.4746G>C (p.Gln1582His) n.1258G>C n.1250G>C c.162G>C (p.Gln54His) c.325-1433G>C c.4755G>C (p.Gln1585His) c.4440G>C (p.Gln1480His) c.2337G>C (p.Gln779His) c.4779G>C (p.Gln1593His) c.4770G>C (p.Gln1590His) c.4761G>C (p.Gln1587His) c.3099G>C (p.Gln1033His) | COSMIC |
X | g.108694864G>T | CA414132502 | COL4A5 | c.4764G>T (p.Gln1588His) c.4746G>T (p.Gln1582His) n.1258G>T n.1250G>T c.162G>T (p.Gln54His) c.325-1433G>T c.4755G>T (p.Gln1585His) c.4440G>T (p.Gln1480His) c.2337G>T (p.Gln779His) c.4779G>T (p.Gln1593His) c.4770G>T (p.Gln1590His) c.4761G>T (p.Gln1587His) c.3099G>T (p.Gln1033His) | |
X | g.108694864_108694871delinsGATTCCCC | CA2450721591 | COL4A5 | c.4764_4771delinsGATTCCCC (p.Gln1588=) c.4746_4753delinsGATTCCCC (p.Gln1582=) n.1258_1265delinsGATTCCCC n.1250_1257delinsGATTCCCC c.162_169delinsGATTCCCC (p.Gln54=) c.325-1433_325-1426delinsGATTCCCC c.4755_4762delinsGATTCCCC (p.Gln1585=) c.4440_4447delinsGATTCCCC (p.Gln1480=) c.2337_2344delinsGATTCCCC (p.Gln779=) c.4779_4786delinsGATTCCCC (p.Gln1593=) c.4770_4777delinsGATTCCCC (p.Gln1590=) c.4761_4768delinsGATTCCCC (p.Gln1587=) c.3099_3106delinsGATTCCCC (p.Gln1033=) | |
X | g.108694865A= | CA2450721592 | COL4A5 | c.4765A= (p.Ile1589=) c.4747A= (p.Ile1583=) n.1259A= n.1251A= c.163A= (p.Ile55=) c.325-1432A= c.4756A= (p.Ile1586=) c.4441A= (p.Ile1481=) c.2338A= (p.Ile780=) c.4780A= (p.Ile1594=) c.4771A= (p.Ile1591=) c.4762A= (p.Ile1588=) c.3100A= (p.Ile1034=) | |
X | g.108694865A>C | CA414132503 | COL4A5 | c.4765A>C (p.Ile1589Leu) c.4747A>C (p.Ile1583Leu) n.1259A>C n.1251A>C c.163A>C (p.Ile55Leu) c.325-1432A>C c.4756A>C (p.Ile1586Leu) c.4441A>C (p.Ile1481Leu) c.2338A>C (p.Ile780Leu) c.4780A>C (p.Ile1594Leu) c.4771A>C (p.Ile1591Leu) c.4762A>C (p.Ile1588Leu) c.3100A>C (p.Ile1034Leu) | dbSNP |
X | g.108694865A>G | CA414132505 | COL4A5 | c.4765A>G (p.Ile1589Val) c.4747A>G (p.Ile1583Val) n.1259A>G n.1251A>G c.163A>G (p.Ile55Val) c.325-1432A>G c.4756A>G (p.Ile1586Val) c.4441A>G (p.Ile1481Val) c.2338A>G (p.Ile780Val) c.4780A>G (p.Ile1594Val) c.4771A>G (p.Ile1591Val) c.4762A>G (p.Ile1588Val) c.3100A>G (p.Ile1034Val) | |
X | g.108694865A>T | CA414132504 | COL4A5 | c.4765A>T (p.Ile1589Phe) c.4747A>T (p.Ile1583Phe) n.1259A>T n.1251A>T c.163A>T (p.Ile55Phe) c.325-1432A>T c.4756A>T (p.Ile1586Phe) c.4441A>T (p.Ile1481Phe) c.2338A>T (p.Ile780Phe) c.4780A>T (p.Ile1594Phe) c.4771A>T (p.Ile1591Phe) c.4762A>T (p.Ile1588Phe) c.3100A>T (p.Ile1034Phe) | |
X | g.108694868_108694874del | CA259098 | COL4A5 | c.4768_4774del (p.Pro1590ValfsTer15) c.4750_4756del (p.Pro1584ValfsTer15) n.1262_1268del n.1254_1260del c.166_172del (p.Pro56ValfsTer15) c.325-1429_325-1423del c.4759_4765del (p.Pro1587ValfsTer15) c.4444_4450del (p.Pro1482ValfsTer15) c.2341_2347del (p.Pro781ValfsTer15) c.4783_4789del (p.Pro1595ValfsTer15) c.4774_4780del (p.Pro1592ValfsTer15) c.4765_4771del (p.Pro1589ValfsTer15) c.3103_3109del (p.Pro1035ValfsTer15) | dbSNP |
X | g.108694866T>A | CA414132506 | COL4A5 | c.4766T>A (p.Ile1589Asn) c.4748T>A (p.Ile1583Asn) n.1260T>A n.1252T>A c.164T>A (p.Ile55Asn) c.325-1431T>A c.4757T>A (p.Ile1586Asn) c.4442T>A (p.Ile1481Asn) c.2339T>A (p.Ile780Asn) c.4781T>A (p.Ile1594Asn) c.4772T>A (p.Ile1591Asn) c.4763T>A (p.Ile1588Asn) c.3101T>A (p.Ile1034Asn) | |
X | g.108694866T>C | CA414132507 | COL4A5 | c.4766T>C (p.Ile1589Thr) c.4748T>C (p.Ile1583Thr) n.1260T>C n.1252T>C c.164T>C (p.Ile55Thr) c.325-1431T>C c.4757T>C (p.Ile1586Thr) c.4442T>C (p.Ile1481Thr) c.2339T>C (p.Ile780Thr) c.4781T>C (p.Ile1594Thr) c.4772T>C (p.Ile1591Thr) c.4763T>C (p.Ile1588Thr) c.3101T>C (p.Ile1034Thr) | |
X | g.108694866T>G | CA414132508 | COL4A5 | c.4766T>G (p.Ile1589Ser) c.4748T>G (p.Ile1583Ser) n.1260T>G n.1252T>G c.164T>G (p.Ile55Ser) c.325-1431T>G c.4757T>G (p.Ile1586Ser) c.4442T>G (p.Ile1481Ser) c.2339T>G (p.Ile780Ser) c.4781T>G (p.Ile1594Ser) c.4772T>G (p.Ile1591Ser) c.4763T>G (p.Ile1588Ser) c.3101T>G (p.Ile1034Ser) | |
X | g.108694867dup | CA891843697 | COL4A5 | c.4767dup (p.Pro1590SerfsTer?) c.4749dup (p.Pro1584SerfsTer?) n.1261dup n.1253dup c.165dup (p.Pro56SerfsTer26) c.325-1430dup c.4758dup (p.Pro1587SerfsTer?) c.4443dup (p.Pro1482SerfsTer?) c.2340dup (p.Pro781SerfsTer?) c.4782dup (p.Pro1595SerfsTer?) c.4773dup (p.Pro1592SerfsTer?) c.4764dup (p.Pro1589SerfsTer?) c.3102dup (p.Pro1035SerfsTer?) | |
X | g.108694867T>A | CA517925784 | COL4A5 | c.4767T>A (p.Ile1589=) c.4749T>A (p.Ile1583=) n.1261T>A n.1253T>A c.165T>A (p.Ile55=) c.325-1430T>A c.4758T>A (p.Ile1586=) c.4443T>A (p.Ile1481=) c.2340T>A (p.Ile780=) c.4782T>A (p.Ile1594=) c.4773T>A (p.Ile1591=) c.4764T>A (p.Ile1588=) c.3102T>A (p.Ile1034=) | ClinVar |
X | g.108694867T>C | CA517925787 | COL4A5 | c.4767T>C (p.Ile1589=) c.4749T>C (p.Ile1583=) n.1261T>C n.1253T>C c.165T>C (p.Ile55=) c.325-1430T>C c.4758T>C (p.Ile1586=) c.4443T>C (p.Ile1481=) c.2340T>C (p.Ile780=) c.4782T>C (p.Ile1594=) c.4773T>C (p.Ile1591=) c.4764T>C (p.Ile1588=) c.3102T>C (p.Ile1034=) | ClinVar |
X | g.108694867T>G | CA414132509 | COL4A5 | c.4767T>G (p.Ile1589Met) c.4749T>G (p.Ile1583Met) n.1261T>G n.1253T>G c.165T>G (p.Ile55Met) c.325-1430T>G c.4758T>G (p.Ile1586Met) c.4443T>G (p.Ile1481Met) c.2340T>G (p.Ile780Met) c.4782T>G (p.Ile1594Met) c.4773T>G (p.Ile1591Met) c.4764T>G (p.Ile1588Met) c.3102T>G (p.Ile1034Met) | gnomAD v4 |
X | g.108694868C>A | CA414132510 | COL4A5 | c.4768C>A (p.Pro1590Thr) c.4750C>A (p.Pro1584Thr) n.1262C>A n.1254C>A c.166C>A (p.Pro56Thr) c.325-1429C>A c.4759C>A (p.Pro1587Thr) c.4444C>A (p.Pro1482Thr) c.2341C>A (p.Pro781Thr) c.4783C>A (p.Pro1595Thr) c.4774C>A (p.Pro1592Thr) c.4765C>A (p.Pro1589Thr) c.3103C>A (p.Pro1035Thr) | |
X | g.108694868C>G | CA414132511 | COL4A5 | c.4768C>G (p.Pro1590Ala) c.4750C>G (p.Pro1584Ala) n.1262C>G n.1254C>G c.166C>G (p.Pro56Ala) c.325-1429C>G c.4759C>G (p.Pro1587Ala) c.4444C>G (p.Pro1482Ala) c.2341C>G (p.Pro781Ala) c.4783C>G (p.Pro1595Ala) c.4774C>G (p.Pro1592Ala) c.4765C>G (p.Pro1589Ala) c.3103C>G (p.Pro1035Ala) | |
X | g.108694868C>T | CA414132512 | COL4A5 | c.4768C>T (p.Pro1590Ser) c.4750C>T (p.Pro1584Ser) n.1262C>T n.1254C>T c.166C>T (p.Pro56Ser) c.325-1429C>T c.4759C>T (p.Pro1587Ser) c.4444C>T (p.Pro1482Ser) c.2341C>T (p.Pro781Ser) c.4783C>T (p.Pro1595Ser) c.4774C>T (p.Pro1592Ser) c.4765C>T (p.Pro1589Ser) c.3103C>T (p.Pro1035Ser) | |
X | g.108694869C>A | CA414132513 | COL4A5 | c.4769C>A (p.Pro1590His) c.4751C>A (p.Pro1584His) n.1263C>A n.1255C>A c.167C>A (p.Pro56His) c.325-1428C>A c.4760C>A (p.Pro1587His) c.4445C>A (p.Pro1482His) c.2342C>A (p.Pro781His) c.4784C>A (p.Pro1595His) c.4775C>A (p.Pro1592His) c.4766C>A (p.Pro1589His) c.3104C>A (p.Pro1035His) | ClinVar dbSNP |
X | g.108694869C= | CA2450721593 | COL4A5 | c.4769C= (p.Pro1590=) c.4751C= (p.Pro1584=) n.1263C= n.1255C= c.167C= (p.Pro56=) c.325-1428C= c.4760C= (p.Pro1587=) c.4445C= (p.Pro1482=) c.2342C= (p.Pro781=) c.4784C= (p.Pro1595=) c.4775C= (p.Pro1592=) c.4766C= (p.Pro1589=) c.3104C= (p.Pro1035=) | |
X | g.108694869C>G | CA414132514 | COL4A5 | c.4769C>G (p.Pro1590Arg) c.4751C>G (p.Pro1584Arg) n.1263C>G n.1255C>G c.167C>G (p.Pro56Arg) c.325-1428C>G c.4760C>G (p.Pro1587Arg) c.4445C>G (p.Pro1482Arg) c.2342C>G (p.Pro781Arg) c.4784C>G (p.Pro1595Arg) c.4775C>G (p.Pro1592Arg) c.4766C>G (p.Pro1589Arg) c.3104C>G (p.Pro1035Arg) | |
X | g.108694869C>T | CA259099 | COL4A5 | c.4769C>T (p.Pro1590Leu) c.4751C>T (p.Pro1584Leu) n.1263C>T n.1255C>T c.167C>T (p.Pro56Leu) c.325-1428C>T c.4760C>T (p.Pro1587Leu) c.4445C>T (p.Pro1482Leu) c.2342C>T (p.Pro781Leu) c.4784C>T (p.Pro1595Leu) c.4775C>T (p.Pro1592Leu) c.4766C>T (p.Pro1589Leu) c.3104C>T (p.Pro1035Leu) | ClinVar dbSNP |
X | g.108694870C>A | CA517925797 | COL4A5 | c.4770C>A (p.Pro1590=) c.4752C>A (p.Pro1584=) n.1264C>A n.1256C>A c.168C>A (p.Pro56=) c.325-1427C>A c.4761C>A (p.Pro1587=) c.4446C>A (p.Pro1482=) c.2343C>A (p.Pro781=) c.4785C>A (p.Pro1595=) c.4776C>A (p.Pro1592=) c.4767C>A (p.Pro1589=) c.3105C>A (p.Pro1035=) | |
X | g.108694870C>G | CA517925799 | COL4A5 | c.4770C>G (p.Pro1590=) c.4752C>G (p.Pro1584=) n.1264C>G n.1256C>G c.168C>G (p.Pro56=) c.325-1427C>G c.4761C>G (p.Pro1587=) c.4446C>G (p.Pro1482=) c.2343C>G (p.Pro781=) c.4785C>G (p.Pro1595=) c.4776C>G (p.Pro1592=) c.4767C>G (p.Pro1589=) c.3105C>G (p.Pro1035=) | |
X | g.108694870C>T | CA517925800 | COL4A5 | c.4770C>T (p.Pro1590=) c.4752C>T (p.Pro1584=) n.1264C>T n.1256C>T c.168C>T (p.Pro56=) c.325-1427C>T c.4761C>T (p.Pro1587=) c.4446C>T (p.Pro1482=) c.2343C>T (p.Pro781=) c.4785C>T (p.Pro1595=) c.4776C>T (p.Pro1592=) c.4767C>T (p.Pro1589=) c.3105C>T (p.Pro1035=) | |
X | g.108694871C>A | CA414132517 | COL4A5 | c.4771C>A (p.His1591Asn) c.4753C>A (p.His1585Asn) n.1265C>A n.1257C>A c.169C>A (p.His57Asn) c.325-1426C>A c.4762C>A (p.His1588Asn) c.4447C>A (p.His1483Asn) c.2344C>A (p.His782Asn) c.4786C>A (p.His1596Asn) c.4777C>A (p.His1593Asn) c.4768C>A (p.His1590Asn) c.3106C>A (p.His1036Asn) | |
X | g.108694871C>G | CA414132516 | COL4A5 | c.4771C>G (p.His1591Asp) c.4753C>G (p.His1585Asp) n.1265C>G n.1257C>G c.169C>G (p.His57Asp) c.325-1426C>G c.4762C>G (p.His1588Asp) c.4447C>G (p.His1483Asp) c.2344C>G (p.His782Asp) c.4786C>G (p.His1596Asp) c.4777C>G (p.His1593Asp) c.4768C>G (p.His1590Asp) c.3106C>G (p.His1036Asp) | |
X | g.108694871C>T | CA414132515 | COL4A5 | c.4771C>T (p.His1591Tyr) c.4753C>T (p.His1585Tyr) n.1265C>T n.1257C>T c.169C>T (p.His57Tyr) c.325-1426C>T c.4762C>T (p.His1588Tyr) c.4447C>T (p.His1483Tyr) c.2344C>T (p.His782Tyr) c.4786C>T (p.His1596Tyr) c.4777C>T (p.His1593Tyr) c.4768C>T (p.His1590Tyr) c.3106C>T (p.His1036Tyr) | COSMIC COSMIC |
X | g.108694872del | CA2579992072 | COL4A5 | c.4772del (p.His1591LeufsTer16) c.4754del (p.His1585LeufsTer16) n.1266del n.1258del c.170del (p.His57LeufsTer16) c.325-1425del c.4763del (p.His1588LeufsTer16) c.4448del (p.His1483LeufsTer16) c.2345del (p.His782LeufsTer16) c.4787del (p.His1596LeufsTer16) c.4778del (p.His1593LeufsTer16) c.4769del (p.His1590LeufsTer16) c.3107del (p.His1036LeufsTer16) | |
X | g.108694872A= | CA2450721594 | COL4A5 | c.4772A= (p.His1591=) c.4754A= (p.His1585=) n.1266A= n.1258A= c.170A= (p.His57=) c.325-1425A= c.4763A= (p.His1588=) c.4448A= (p.His1483=) c.2345A= (p.His782=) c.4787A= (p.His1596=) c.4778A= (p.His1593=) c.4769A= (p.His1590=) c.3107A= (p.His1036=) | |
X | g.108694872A>C | CA414132518 | COL4A5 | c.4772A>C (p.His1591Pro) c.4754A>C (p.His1585Pro) n.1266A>C n.1258A>C c.170A>C (p.His57Pro) c.325-1425A>C c.4763A>C (p.His1588Pro) c.4448A>C (p.His1483Pro) c.2345A>C (p.His782Pro) c.4787A>C (p.His1596Pro) c.4778A>C (p.His1593Pro) c.4769A>C (p.His1590Pro) c.3107A>C (p.His1036Pro) | |
X | g.108694872A>G | CA414132520 | COL4A5 | c.4772A>G (p.His1591Arg) c.4754A>G (p.His1585Arg) n.1266A>G n.1258A>G c.170A>G (p.His57Arg) c.325-1425A>G c.4763A>G (p.His1588Arg) c.4448A>G (p.His1483Arg) c.2345A>G (p.His782Arg) c.4787A>G (p.His1596Arg) c.4778A>G (p.His1593Arg) c.4769A>G (p.His1590Arg) c.3107A>G (p.His1036Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.108694872A>T | CA414132519 | COL4A5 | c.4772A>T (p.His1591Leu) c.4754A>T (p.His1585Leu) n.1266A>T n.1258A>T c.170A>T (p.His57Leu) c.325-1425A>T c.4763A>T (p.His1588Leu) c.4448A>T (p.His1483Leu) c.2345A>T (p.His782Leu) c.4787A>T (p.His1596Leu) c.4778A>T (p.His1593Leu) c.4769A>T (p.His1590Leu) c.3107A>T (p.His1036Leu) | |
X | g.108694873T>A | CA414132521 | COL4A5 | c.4773T>A (p.His1591Gln) c.4755T>A (p.His1585Gln) n.1267T>A n.1259T>A c.171T>A (p.His57Gln) c.325-1424T>A c.4764T>A (p.His1588Gln) c.4449T>A (p.His1483Gln) c.2346T>A (p.His782Gln) c.4788T>A (p.His1596Gln) c.4779T>A (p.His1593Gln) c.4770T>A (p.His1590Gln) c.3108T>A (p.His1036Gln) | |
X | g.108694873T>C | CA517925813 | COL4A5 | c.4773T>C (p.His1591=) c.4755T>C (p.His1585=) n.1267T>C n.1259T>C c.171T>C (p.His57=) c.325-1424T>C c.4764T>C (p.His1588=) c.4449T>C (p.His1483=) c.2346T>C (p.His782=) c.4788T>C (p.His1596=) c.4779T>C (p.His1593=) c.4770T>C (p.His1590=) c.3108T>C (p.His1036=) | dbSNP gnomAD v4 |
X | g.108694873T>G | CA414132522 | COL4A5 | c.4773T>G (p.His1591Gln) c.4755T>G (p.His1585Gln) n.1267T>G n.1259T>G c.171T>G (p.His57Gln) c.325-1424T>G c.4764T>G (p.His1588Gln) c.4449T>G (p.His1483Gln) c.2346T>G (p.His782Gln) c.4788T>G (p.His1596Gln) c.4779T>G (p.His1593Gln) c.4770T>G (p.His1590Gln) c.3108T>G (p.His1036Gln) | |
X | g.108694873T= | CA2450721595 | COL4A5 | c.4773T= (p.His1591=) c.4755T= (p.His1585=) n.1267T= n.1259T= c.171T= (p.His57=) c.325-1424T= c.4764T= (p.His1588=) c.4449T= (p.His1483=) c.2346T= (p.His782=) c.4788T= (p.His1596=) c.4779T= (p.His1593=) c.4770T= (p.His1590=) c.3108T= (p.His1036=) | |
X | g.108694874T>A | CA414132523 | COL4A5 | c.4774T>A (p.Cys1592Ser) c.4756T>A (p.Cys1586Ser) n.1268T>A n.1260T>A c.172T>A (p.Cys58Ser) c.325-1423T>A c.4765T>A (p.Cys1589Ser) c.4450T>A (p.Cys1484Ser) c.2347T>A (p.Cys783Ser) c.4789T>A (p.Cys1597Ser) c.4780T>A (p.Cys1594Ser) c.4771T>A (p.Cys1591Ser) c.3109T>A (p.Cys1037Ser) | |
X | g.108694874T>C | CA259103 | COL4A5 | c.4774T>C (p.Cys1592Arg) c.4756T>C (p.Cys1586Arg) n.1268T>C n.1260T>C c.172T>C (p.Cys58Arg) c.325-1423T>C c.4765T>C (p.Cys1589Arg) c.4450T>C (p.Cys1484Arg) c.2347T>C (p.Cys783Arg) c.4789T>C (p.Cys1597Arg) c.4780T>C (p.Cys1594Arg) c.4771T>C (p.Cys1591Arg) c.3109T>C (p.Cys1037Arg) | dbSNP |
X | g.108694874T>G | CA414132524 | COL4A5 | c.4774T>G (p.Cys1592Gly) c.4756T>G (p.Cys1586Gly) n.1268T>G n.1260T>G c.172T>G (p.Cys58Gly) c.325-1423T>G c.4765T>G (p.Cys1589Gly) c.4450T>G (p.Cys1484Gly) c.2347T>G (p.Cys783Gly) c.4789T>G (p.Cys1597Gly) c.4780T>G (p.Cys1594Gly) c.4771T>G (p.Cys1591Gly) c.3109T>G (p.Cys1037Gly) | |
X | g.108694874T= | CA2450721596 | COL4A5 | c.4774T= (p.Cys1592=) c.4756T= (p.Cys1586=) n.1268T= n.1260T= c.172T= (p.Cys58=) c.325-1423T= c.4765T= (p.Cys1589=) c.4450T= (p.Cys1484=) c.2347T= (p.Cys783=) c.4789T= (p.Cys1597=) c.4780T= (p.Cys1594=) c.4771T= (p.Cys1591=) c.3109T= (p.Cys1037=) | |
X | g.108694875G>A | CA414132525 | COL4A5 | c.4775G>A (p.Cys1592Tyr) c.4757G>A (p.Cys1586Tyr) n.1269G>A n.1261G>A c.173G>A (p.Cys58Tyr) c.325-1422G>A c.4766G>A (p.Cys1589Tyr) c.4451G>A (p.Cys1484Tyr) c.2348G>A (p.Cys783Tyr) c.4790G>A (p.Cys1597Tyr) c.4781G>A (p.Cys1594Tyr) c.4772G>A (p.Cys1591Tyr) c.3110G>A (p.Cys1037Tyr) | |
X | g.108694875G>C | CA414132526 | COL4A5 | c.4775G>C (p.Cys1592Ser) c.4757G>C (p.Cys1586Ser) n.1269G>C n.1261G>C c.173G>C (p.Cys58Ser) c.325-1422G>C c.4766G>C (p.Cys1589Ser) c.4451G>C (p.Cys1484Ser) c.2348G>C (p.Cys783Ser) c.4790G>C (p.Cys1597Ser) c.4781G>C (p.Cys1594Ser) c.4772G>C (p.Cys1591Ser) c.3110G>C (p.Cys1037Ser) | |
X | g.108694875G= | CA2450721597 | COL4A5 | c.4775G= (p.Cys1592=) c.4757G= (p.Cys1586=) n.1269G= n.1261G= c.173G= (p.Cys58=) c.325-1422G= c.4766G= (p.Cys1589=) c.4451G= (p.Cys1484=) c.2348G= (p.Cys783=) c.4790G= (p.Cys1597=) c.4781G= (p.Cys1594=) c.4772G= (p.Cys1591=) c.3110G= (p.Cys1037=) | |
X | g.108694875G>T | CA259106 | COL4A5 | c.4775G>T (p.Cys1592Phe) c.4757G>T (p.Cys1586Phe) n.1269G>T n.1261G>T c.173G>T (p.Cys58Phe) c.325-1422G>T c.4766G>T (p.Cys1589Phe) c.4451G>T (p.Cys1484Phe) c.2348G>T (p.Cys783Phe) c.4790G>T (p.Cys1597Phe) c.4781G>T (p.Cys1594Phe) c.4772G>T (p.Cys1591Phe) c.3110G>T (p.Cys1037Phe) | dbSNP |
X | g.108694876T>A | CA414132528 | COL4A5 | c.4776T>A (p.Cys1592Ter) c.4758T>A (p.Cys1586Ter) n.1270T>A n.1262T>A c.174T>A (p.Cys58Ter) c.325-1421T>A c.4767T>A (p.Cys1589Ter) c.4452T>A (p.Cys1484Ter) c.2349T>A (p.Cys783Ter) c.4791T>A (p.Cys1597Ter) c.4782T>A (p.Cys1594Ter) c.4773T>A (p.Cys1591Ter) c.3111T>A (p.Cys1037Ter) | |
X | g.108694876T>C | CA517925822 | COL4A5 | c.4776T>C (p.Cys1592=) c.4758T>C (p.Cys1586=) n.1270T>C n.1262T>C c.174T>C (p.Cys58=) c.325-1421T>C c.4767T>C (p.Cys1589=) c.4452T>C (p.Cys1484=) c.2349T>C (p.Cys783=) c.4791T>C (p.Cys1597=) c.4782T>C (p.Cys1594=) c.4773T>C (p.Cys1591=) c.3111T>C (p.Cys1037=) | |
X | g.108694876T>G | CA414132527 | COL4A5 | c.4776T>G (p.Cys1592Trp) c.4758T>G (p.Cys1586Trp) n.1270T>G n.1262T>G c.174T>G (p.Cys58Trp) c.325-1421T>G c.4767T>G (p.Cys1589Trp) c.4452T>G (p.Cys1484Trp) c.2349T>G (p.Cys783Trp) c.4791T>G (p.Cys1597Trp) c.4782T>G (p.Cys1594Trp) c.4773T>G (p.Cys1591Trp) c.3111T>G (p.Cys1037Trp) | |
X | g.108694877C>A | CA414132529 | COL4A5 | c.4777C>A (p.Pro1593Thr) c.4759C>A (p.Pro1587Thr) n.1271C>A n.1263C>A c.175C>A (p.Pro59Thr) c.325-1420C>A c.4768C>A (p.Pro1590Thr) c.4453C>A (p.Pro1485Thr) c.2350C>A (p.Pro784Thr) c.4792C>A (p.Pro1598Thr) c.4783C>A (p.Pro1595Thr) c.4774C>A (p.Pro1592Thr) c.3112C>A (p.Pro1038Thr) | |
X | g.108694877C>G | CA414132530 | COL4A5 | c.4777C>G (p.Pro1593Ala) c.4759C>G (p.Pro1587Ala) n.1271C>G n.1263C>G c.175C>G (p.Pro59Ala) c.325-1420C>G c.4768C>G (p.Pro1590Ala) c.4453C>G (p.Pro1485Ala) c.2350C>G (p.Pro784Ala) c.4792C>G (p.Pro1598Ala) c.4783C>G (p.Pro1595Ala) c.4774C>G (p.Pro1592Ala) c.3112C>G (p.Pro1038Ala) | |
X | g.108694877C>T | CA414132531 | COL4A5 | c.4777C>T (p.Pro1593Ser) c.4759C>T (p.Pro1587Ser) n.1271C>T n.1263C>T c.175C>T (p.Pro59Ser) c.325-1420C>T c.4768C>T (p.Pro1590Ser) c.4453C>T (p.Pro1485Ser) c.2350C>T (p.Pro784Ser) c.4792C>T (p.Pro1598Ser) c.4783C>T (p.Pro1595Ser) c.4774C>T (p.Pro1592Ser) c.3112C>T (p.Pro1038Ser) | gnomAD v4 |
X | g.108694878C>A | CA414132532 | COL4A5 | c.4778C>A (p.Pro1593His) c.4760C>A (p.Pro1587His) n.1272C>A n.1264C>A c.176C>A (p.Pro59His) c.325-1419C>A c.4769C>A (p.Pro1590His) c.4454C>A (p.Pro1485His) c.2351C>A (p.Pro784His) c.4793C>A (p.Pro1598His) c.4784C>A (p.Pro1595His) c.4775C>A (p.Pro1592His) c.3113C>A (p.Pro1038His) | |
X | g.108694878C>G | CA414132533 | COL4A5 | c.4778C>G (p.Pro1593Arg) c.4760C>G (p.Pro1587Arg) n.1272C>G n.1264C>G c.176C>G (p.Pro59Arg) c.325-1419C>G c.4769C>G (p.Pro1590Arg) c.4454C>G (p.Pro1485Arg) c.2351C>G (p.Pro784Arg) c.4793C>G (p.Pro1598Arg) c.4784C>G (p.Pro1595Arg) c.4775C>G (p.Pro1592Arg) c.3113C>G (p.Pro1038Arg) | |
X | g.108694878C>T | CA414132534 | COL4A5 | c.4778C>T (p.Pro1593Leu) c.4760C>T (p.Pro1587Leu) n.1272C>T n.1264C>T c.176C>T (p.Pro59Leu) c.325-1419C>T c.4769C>T (p.Pro1590Leu) c.4454C>T (p.Pro1485Leu) c.2351C>T (p.Pro784Leu) c.4793C>T (p.Pro1598Leu) c.4784C>T (p.Pro1595Leu) c.4775C>T (p.Pro1592Leu) c.3113C>T (p.Pro1038Leu) | gnomAD v4 |
X | g.108694879T>A | CA517925837 | COL4A5 | c.4779T>A (p.Pro1593=) c.4761T>A (p.Pro1587=) n.1273T>A n.1265T>A c.177T>A (p.Pro59=) c.325-1418T>A c.4770T>A (p.Pro1590=) c.4455T>A (p.Pro1485=) c.2352T>A (p.Pro784=) c.4794T>A (p.Pro1598=) c.4785T>A (p.Pro1595=) c.4776T>A (p.Pro1592=) c.3114T>A (p.Pro1038=) | |
X | g.108694879T>C | CA517925841 | COL4A5 | c.4779T>C (p.Pro1593=) c.4761T>C (p.Pro1587=) n.1273T>C n.1265T>C c.177T>C (p.Pro59=) c.325-1418T>C c.4770T>C (p.Pro1590=) c.4455T>C (p.Pro1485=) c.2352T>C (p.Pro784=) c.4794T>C (p.Pro1598=) c.4785T>C (p.Pro1595=) c.4776T>C (p.Pro1592=) c.3114T>C (p.Pro1038=) | |
X | g.108694879T>G | CA517925839 | COL4A5 | c.4779T>G (p.Pro1593=) c.4761T>G (p.Pro1587=) n.1273T>G n.1265T>G c.177T>G (p.Pro59=) c.325-1418T>G c.4770T>G (p.Pro1590=) c.4455T>G (p.Pro1485=) c.2352T>G (p.Pro784=) c.4794T>G (p.Pro1598=) c.4785T>G (p.Pro1595=) c.4776T>G (p.Pro1592=) c.3114T>G (p.Pro1038=) | |
X | g.108694880C>A | CA414132535 | COL4A5 | c.4780C>A (p.Gln1594Lys) c.4762C>A (p.Gln1588Lys) n.1274C>A n.1266C>A c.178C>A (p.Gln60Lys) c.325-1417C>A c.4771C>A (p.Gln1591Lys) c.4456C>A (p.Gln1486Lys) c.2353C>A (p.Gln785Lys) c.4795C>A (p.Gln1599Lys) c.4786C>A (p.Gln1596Lys) c.4777C>A (p.Gln1593Lys) c.3115C>A (p.Gln1039Lys) | |
X | g.108694880C= | CA2450721598 | COL4A5 | c.4780C= (p.Gln1594=) c.4762C= (p.Gln1588=) n.1274C= n.1266C= c.178C= (p.Gln60=) c.325-1417C= c.4771C= (p.Gln1591=) c.4456C= (p.Gln1486=) c.2353C= (p.Gln785=) c.4795C= (p.Gln1599=) c.4786C= (p.Gln1596=) c.4777C= (p.Gln1593=) c.3115C= (p.Gln1039=) | |
X | g.108694880C>G | CA414132537 | COL4A5 | c.4780C>G (p.Gln1594Glu) c.4762C>G (p.Gln1588Glu) n.1274C>G n.1266C>G c.178C>G (p.Gln60Glu) c.325-1417C>G c.4771C>G (p.Gln1591Glu) c.4456C>G (p.Gln1486Glu) c.2353C>G (p.Gln785Glu) c.4795C>G (p.Gln1599Glu) c.4786C>G (p.Gln1596Glu) c.4777C>G (p.Gln1593Glu) c.3115C>G (p.Gln1039Glu) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108694880C>T | CA414132536 | COL4A5 | c.4780C>T (p.Gln1594Ter) c.4762C>T (p.Gln1588Ter) n.1274C>T n.1266C>T c.178C>T (p.Gln60Ter) c.325-1417C>T c.4771C>T (p.Gln1591Ter) c.4456C>T (p.Gln1486Ter) c.2353C>T (p.Gln785Ter) c.4795C>T (p.Gln1599Ter) c.4786C>T (p.Gln1596Ter) c.4777C>T (p.Gln1593Ter) c.3115C>T (p.Gln1039Ter) | COSMIC COSMIC |
X | g.108694881A>C | CA414132538 | COL4A5 | c.4781A>C (p.Gln1594Pro) c.4763A>C (p.Gln1588Pro) n.1275A>C n.1267A>C c.179A>C (p.Gln60Pro) c.325-1416A>C c.4772A>C (p.Gln1591Pro) c.4457A>C (p.Gln1486Pro) c.2354A>C (p.Gln785Pro) c.4796A>C (p.Gln1599Pro) c.4787A>C (p.Gln1596Pro) c.4778A>C (p.Gln1593Pro) c.3116A>C (p.Gln1039Pro) | |
X | g.108694881A>G | CA414132539 | COL4A5 | c.4781A>G (p.Gln1594Arg) c.4763A>G (p.Gln1588Arg) n.1275A>G n.1267A>G c.179A>G (p.Gln60Arg) c.325-1416A>G c.4772A>G (p.Gln1591Arg) c.4457A>G (p.Gln1486Arg) c.2354A>G (p.Gln785Arg) c.4796A>G (p.Gln1599Arg) c.4787A>G (p.Gln1596Arg) c.4778A>G (p.Gln1593Arg) c.3116A>G (p.Gln1039Arg) | |
X | g.108694881A>T | CA414132540 | COL4A5 | c.4781A>T (p.Gln1594Leu) c.4763A>T (p.Gln1588Leu) n.1275A>T n.1267A>T c.179A>T (p.Gln60Leu) c.325-1416A>T c.4772A>T (p.Gln1591Leu) c.4457A>T (p.Gln1486Leu) c.2354A>T (p.Gln785Leu) c.4796A>T (p.Gln1599Leu) c.4787A>T (p.Gln1596Leu) c.4778A>T (p.Gln1593Leu) c.3116A>T (p.Gln1039Leu) | |
X | g.108694882G>A | CA517925851 | COL4A5 | c.4782G>A (p.Gln1594=) c.4764G>A (p.Gln1588=) n.1276G>A n.1268G>A c.180G>A (p.Gln60=) c.325-1415G>A c.4773G>A (p.Gln1591=) c.4458G>A (p.Gln1486=) c.2355G>A (p.Gln785=) c.4797G>A (p.Gln1599=) c.4788G>A (p.Gln1596=) c.4779G>A (p.Gln1593=) c.3117G>A (p.Gln1039=) | |
X | g.108694882G>C | CA414132541 | COL4A5 | c.4782G>C (p.Gln1594His) c.4764G>C (p.Gln1588His) n.1276G>C n.1268G>C c.180G>C (p.Gln60His) c.325-1415G>C c.4773G>C (p.Gln1591His) c.4458G>C (p.Gln1486His) c.2355G>C (p.Gln785His) c.4797G>C (p.Gln1599His) c.4788G>C (p.Gln1596His) c.4779G>C (p.Gln1593His) c.3117G>C (p.Gln1039His) | |
X | g.108694882G>T | CA414132542 | COL4A5 | c.4782G>T (p.Gln1594His) c.4764G>T (p.Gln1588His) n.1276G>T n.1268G>T c.180G>T (p.Gln60His) c.325-1415G>T c.4773G>T (p.Gln1591His) c.4458G>T (p.Gln1486His) c.2355G>T (p.Gln785His) c.4797G>T (p.Gln1599His) c.4788G>T (p.Gln1596His) c.4779G>T (p.Gln1593His) c.3117G>T (p.Gln1039His) | |
X | g.108694883G>A | CA414132543 | COL4A5 | c.4783G>A (p.Gly1595Arg) c.4765G>A (p.Gly1589Arg) n.1277G>A n.1269G>A c.181G>A (p.Gly61Arg) c.325-1414G>A c.4774G>A (p.Gly1592Arg) c.4459G>A (p.Gly1487Arg) c.2356G>A (p.Gly786Arg) c.4798G>A (p.Gly1600Arg) c.4789G>A (p.Gly1597Arg) c.4780G>A (p.Gly1594Arg) c.3118G>A (p.Gly1040Arg) | |
X | g.108694883G>C | CA414132544 | COL4A5 | c.4783G>C (p.Gly1595Arg) c.4765G>C (p.Gly1589Arg) n.1277G>C n.1269G>C c.181G>C (p.Gly61Arg) c.325-1414G>C c.4774G>C (p.Gly1592Arg) c.4459G>C (p.Gly1487Arg) c.2356G>C (p.Gly786Arg) c.4798G>C (p.Gly1600Arg) c.4789G>C (p.Gly1597Arg) c.4780G>C (p.Gly1594Arg) c.3118G>C (p.Gly1040Arg) | |
X | g.108694883G>T | CA414132545 | COL4A5 | c.4783G>T (p.Gly1595Ter) c.4765G>T (p.Gly1589Ter) n.1277G>T n.1269G>T c.181G>T (p.Gly61Ter) c.325-1414G>T c.4774G>T (p.Gly1592Ter) c.4459G>T (p.Gly1487Ter) c.2356G>T (p.Gly786Ter) c.4798G>T (p.Gly1600Ter) c.4789G>T (p.Gly1597Ter) c.4780G>T (p.Gly1594Ter) c.3118G>T (p.Gly1040Ter) | ClinVar |
X | g.108694884G>A | CA414132546 | COL4A5 | c.4784G>A (p.Gly1595Glu) c.4766G>A (p.Gly1589Glu) n.1278G>A n.1270G>A c.182G>A (p.Gly61Glu) c.325-1413G>A c.4775G>A (p.Gly1592Glu) c.4460G>A (p.Gly1487Glu) c.2357G>A (p.Gly786Glu) c.4799G>A (p.Gly1600Glu) c.4790G>A (p.Gly1597Glu) c.4781G>A (p.Gly1594Glu) c.3119G>A (p.Gly1040Glu) | |
X | g.108694884G>C | CA414132547 | COL4A5 | c.4784G>C (p.Gly1595Ala) c.4766G>C (p.Gly1589Ala) n.1278G>C n.1270G>C c.182G>C (p.Gly61Ala) c.325-1413G>C c.4775G>C (p.Gly1592Ala) c.4460G>C (p.Gly1487Ala) c.2357G>C (p.Gly786Ala) c.4799G>C (p.Gly1600Ala) c.4790G>C (p.Gly1597Ala) c.4781G>C (p.Gly1594Ala) c.3119G>C (p.Gly1040Ala) | |
X | g.108694884G= | CA2450721599 | COL4A5 | c.4784G= (p.Gly1595=) c.4766G= (p.Gly1589=) n.1278G= n.1270G= c.182G= (p.Gly61=) c.325-1413G= c.4775G= (p.Gly1592=) c.4460G= (p.Gly1487=) c.2357G= (p.Gly786=) c.4799G= (p.Gly1600=) c.4790G= (p.Gly1597=) c.4781G= (p.Gly1594=) c.3119G= (p.Gly1040=) | |
X | g.108694884G>T | CA259109 | COL4A5 | c.4784G>T (p.Gly1595Val) c.4766G>T (p.Gly1589Val) n.1278G>T n.1270G>T c.182G>T (p.Gly61Val) c.325-1413G>T c.4775G>T (p.Gly1592Val) c.4460G>T (p.Gly1487Val) c.2357G>T (p.Gly786Val) c.4799G>T (p.Gly1600Val) c.4790G>T (p.Gly1597Val) c.4781G>T (p.Gly1594Val) c.3119G>T (p.Gly1040Val) | dbSNP |
X | g.108694885A>C | CA517925859 | COL4A5 | c.4785A>C (p.Gly1595=) c.4767A>C (p.Gly1589=) n.1279A>C n.1271A>C c.183A>C (p.Gly61=) c.325-1412A>C c.4776A>C (p.Gly1592=) c.4461A>C (p.Gly1487=) c.2358A>C (p.Gly786=) c.4800A>C (p.Gly1600=) c.4791A>C (p.Gly1597=) c.4782A>C (p.Gly1594=) c.3120A>C (p.Gly1040=) | |
X | g.108694885A>G | CA517925860 | COL4A5 | c.4785A>G (p.Gly1595=) c.4767A>G (p.Gly1589=) n.1279A>G n.1271A>G c.183A>G (p.Gly61=) c.325-1412A>G c.4776A>G (p.Gly1592=) c.4461A>G (p.Gly1487=) c.2358A>G (p.Gly786=) c.4800A>G (p.Gly1600=) c.4791A>G (p.Gly1597=) c.4782A>G (p.Gly1594=) c.3120A>G (p.Gly1040=) | |
X | g.108694885A>T | CA517925861 | COL4A5 | c.4785A>T (p.Gly1595=) c.4767A>T (p.Gly1589=) n.1279A>T n.1271A>T c.183A>T (p.Gly61=) c.325-1412A>T c.4776A>T (p.Gly1592=) c.4461A>T (p.Gly1487=) c.2358A>T (p.Gly786=) c.4800A>T (p.Gly1600=) c.4791A>T (p.Gly1597=) c.4782A>T (p.Gly1594=) c.3120A>T (p.Gly1040=) | |
X | g.108694886T>A | CA414132548 | COL4A5 | c.4786T>A (p.Trp1596Arg) c.4768T>A (p.Trp1590Arg) n.1280T>A n.1272T>A c.184T>A (p.Trp62Arg) c.325-1411T>A c.4777T>A (p.Trp1593Arg) c.4462T>A (p.Trp1488Arg) c.2359T>A (p.Trp787Arg) c.4801T>A (p.Trp1601Arg) c.4792T>A (p.Trp1598Arg) c.4783T>A (p.Trp1595Arg) c.3121T>A (p.Trp1041Arg) | |
X | g.108694886T>C | CA414132549 | COL4A5 | c.4786T>C (p.Trp1596Arg) c.4768T>C (p.Trp1590Arg) n.1280T>C n.1272T>C c.184T>C (p.Trp62Arg) c.325-1411T>C c.4777T>C (p.Trp1593Arg) c.4462T>C (p.Trp1488Arg) c.2359T>C (p.Trp787Arg) c.4801T>C (p.Trp1601Arg) c.4792T>C (p.Trp1598Arg) c.4783T>C (p.Trp1595Arg) c.3121T>C (p.Trp1041Arg) | |
X | g.108694886T>G | CA259112 | COL4A5 | c.4786T>G (p.Trp1596Gly) c.4768T>G (p.Trp1590Gly) n.1280T>G n.1272T>G c.184T>G (p.Trp62Gly) c.325-1411T>G c.4777T>G (p.Trp1593Gly) c.4462T>G (p.Trp1488Gly) c.2359T>G (p.Trp787Gly) c.4801T>G (p.Trp1601Gly) c.4792T>G (p.Trp1598Gly) c.4783T>G (p.Trp1595Gly) c.3121T>G (p.Trp1041Gly) | dbSNP |
X | g.108694886T= | CA2450721600 | COL4A5 | c.4786T= (p.Trp1596=) c.4768T= (p.Trp1590=) n.1280T= n.1272T= c.184T= (p.Trp62=) c.325-1411T= c.4777T= (p.Trp1593=) c.4462T= (p.Trp1488=) c.2359T= (p.Trp787=) c.4801T= (p.Trp1601=) c.4792T= (p.Trp1598=) c.4783T= (p.Trp1595=) c.3121T= (p.Trp1041=) | |
X | g.108694886_108694887delinsTG | CA2450721601 | COL4A5 | c.4786_4787delinsTG (p.Trp1596=) c.4768_4769delinsTG (p.Trp1590=) n.1280_1281delinsTG n.1272_1273delinsTG c.184_185delinsTG (p.Trp62=) c.325-1411_325-1410delinsTG c.4777_4778delinsTG (p.Trp1593=) c.4462_4463delinsTG (p.Trp1488=) c.2359_2360delinsTG (p.Trp787=) c.4801_4802delinsTG (p.Trp1601=) c.4792_4793delinsTG (p.Trp1598=) c.4783_4784delinsTG (p.Trp1595=) c.3121_3122delinsTG (p.Trp1041=) | |
X | g.108694887G>A | CA414132550 | COL4A5 | c.4787G>A (p.Trp1596Ter) c.4769G>A (p.Trp1590Ter) n.1281G>A n.1273G>A c.185G>A (p.Trp62Ter) c.325-1410G>A c.4778G>A (p.Trp1593Ter) c.4463G>A (p.Trp1488Ter) c.2360G>A (p.Trp787Ter) c.4802G>A (p.Trp1601Ter) c.4793G>A (p.Trp1598Ter) c.4784G>A (p.Trp1595Ter) c.3122G>A (p.Trp1041Ter) | ClinVar dbSNP |
X | g.108694887G>C | CA414132551 | COL4A5 | c.4787G>C (p.Trp1596Ser) c.4769G>C (p.Trp1590Ser) n.1281G>C n.1273G>C c.185G>C (p.Trp62Ser) c.325-1410G>C c.4778G>C (p.Trp1593Ser) c.4463G>C (p.Trp1488Ser) c.2360G>C (p.Trp787Ser) c.4802G>C (p.Trp1601Ser) c.4793G>C (p.Trp1598Ser) c.4784G>C (p.Trp1595Ser) c.3122G>C (p.Trp1041Ser) | |
X | g.108694887G>T | CA414132552 | COL4A5 | c.4787G>T (p.Trp1596Leu) c.4769G>T (p.Trp1590Leu) n.1281G>T n.1273G>T c.185G>T (p.Trp62Leu) c.325-1410G>T c.4778G>T (p.Trp1593Leu) c.4463G>T (p.Trp1488Leu) c.2360G>T (p.Trp787Leu) c.4802G>T (p.Trp1601Leu) c.4793G>T (p.Trp1598Leu) c.4784G>T (p.Trp1595Leu) c.3122G>T (p.Trp1041Leu) | |
X | g.108694889del | CA658824369 | COL4A5 | c.4789del (p.Asp1597IlefsTer10) c.4771del (p.Asp1591IlefsTer10) n.1283del n.1275del c.187del (p.Asp63IlefsTer10) c.325-1408del c.4780del (p.Asp1594IlefsTer10) c.4465del (p.Asp1489IlefsTer10) c.2362del (p.Asp788IlefsTer10) c.4804del (p.Asp1602IlefsTer10) c.4795del (p.Asp1599IlefsTer10) c.4786del (p.Asp1596IlefsTer10) c.3124del (p.Asp1042IlefsTer10) | ClinVar dbSNP |
X | g.108694888G>A | CA414132553 | COL4A5 | c.4788G>A (p.Trp1596Ter) c.4770G>A (p.Trp1590Ter) n.1282G>A n.1274G>A c.186G>A (p.Trp62Ter) c.325-1409G>A c.4779G>A (p.Trp1593Ter) c.4464G>A (p.Trp1488Ter) c.2361G>A (p.Trp787Ter) c.4803G>A (p.Trp1601Ter) c.4794G>A (p.Trp1598Ter) c.4785G>A (p.Trp1595Ter) c.3123G>A (p.Trp1041Ter) | ClinVar dbSNP |
X | g.108694888G>C | CA414132554 | COL4A5 | c.4788G>C (p.Trp1596Cys) c.4770G>C (p.Trp1590Cys) n.1282G>C n.1274G>C c.186G>C (p.Trp62Cys) c.325-1409G>C c.4779G>C (p.Trp1593Cys) c.4464G>C (p.Trp1488Cys) c.2361G>C (p.Trp787Cys) c.4803G>C (p.Trp1601Cys) c.4794G>C (p.Trp1598Cys) c.4785G>C (p.Trp1595Cys) c.3123G>C (p.Trp1041Cys) | |
X | g.108694888G>T | CA414132555 | COL4A5 | c.4788G>T (p.Trp1596Cys) c.4770G>T (p.Trp1590Cys) n.1282G>T n.1274G>T c.186G>T (p.Trp62Cys) c.325-1409G>T c.4779G>T (p.Trp1593Cys) c.4464G>T (p.Trp1488Cys) c.2361G>T (p.Trp787Cys) c.4803G>T (p.Trp1601Cys) c.4794G>T (p.Trp1598Cys) c.4785G>T (p.Trp1595Cys) c.3123G>T (p.Trp1041Cys) | |
X | g.108694889G>A | CA414132556 | COL4A5 | c.4789G>A (p.Asp1597Asn) c.4771G>A (p.Asp1591Asn) n.1283G>A n.1275G>A c.187G>A (p.Asp63Asn) c.325-1408G>A c.4780G>A (p.Asp1594Asn) c.4465G>A (p.Asp1489Asn) c.2362G>A (p.Asp788Asn) c.4804G>A (p.Asp1602Asn) c.4795G>A (p.Asp1599Asn) c.4786G>A (p.Asp1596Asn) c.3124G>A (p.Asp1042Asn) | ClinVar dbSNP COSMIC COSMIC |
X | g.108694889G>C | CA414132557 | COL4A5 | c.4789G>C (p.Asp1597His) c.4771G>C (p.Asp1591His) n.1283G>C n.1275G>C c.187G>C (p.Asp63His) c.325-1408G>C c.4780G>C (p.Asp1594His) c.4465G>C (p.Asp1489His) c.2362G>C (p.Asp788His) c.4804G>C (p.Asp1602His) c.4795G>C (p.Asp1599His) c.4786G>C (p.Asp1596His) c.3124G>C (p.Asp1042His) | |
X | g.108694889G>T | CA414132558 | COL4A5 | c.4789G>T (p.Asp1597Tyr) c.4771G>T (p.Asp1591Tyr) n.1283G>T n.1275G>T c.187G>T (p.Asp63Tyr) c.325-1408G>T c.4780G>T (p.Asp1594Tyr) c.4465G>T (p.Asp1489Tyr) c.2362G>T (p.Asp788Tyr) c.4804G>T (p.Asp1602Tyr) c.4795G>T (p.Asp1599Tyr) c.4786G>T (p.Asp1596Tyr) c.3124G>T (p.Asp1042Tyr) | |
X | g.108694890A>C | CA414132559 | COL4A5 | c.4790A>C (p.Asp1597Ala) c.4772A>C (p.Asp1591Ala) n.1284A>C n.1276A>C c.188A>C (p.Asp63Ala) c.325-1407A>C c.4781A>C (p.Asp1594Ala) c.4466A>C (p.Asp1489Ala) c.2363A>C (p.Asp788Ala) c.4805A>C (p.Asp1602Ala) c.4796A>C (p.Asp1599Ala) c.4787A>C (p.Asp1596Ala) c.3125A>C (p.Asp1042Ala) | |
X | g.108694890A>G | CA414132560 | COL4A5 | c.4790A>G (p.Asp1597Gly) c.4772A>G (p.Asp1591Gly) n.1284A>G n.1276A>G c.188A>G (p.Asp63Gly) c.325-1407A>G c.4781A>G (p.Asp1594Gly) c.4466A>G (p.Asp1489Gly) c.2363A>G (p.Asp788Gly) c.4805A>G (p.Asp1602Gly) c.4796A>G (p.Asp1599Gly) c.4787A>G (p.Asp1596Gly) c.3125A>G (p.Asp1042Gly) | |
X | g.108694890A>T | CA414132561 | COL4A5 | c.4790A>T (p.Asp1597Val) c.4772A>T (p.Asp1591Val) n.1284A>T n.1276A>T c.188A>T (p.Asp63Val) c.325-1407A>T c.4781A>T (p.Asp1594Val) c.4466A>T (p.Asp1489Val) c.2363A>T (p.Asp788Val) c.4805A>T (p.Asp1602Val) c.4796A>T (p.Asp1599Val) c.4787A>T (p.Asp1596Val) c.3125A>T (p.Asp1042Val) | |
X | g.108694891T>A | CA414132563 | COL4A5 | c.4791T>A (p.Asp1597Glu) c.4773T>A (p.Asp1591Glu) n.1285T>A n.1277T>A c.189T>A (p.Asp63Glu) c.325-1406T>A c.4782T>A (p.Asp1594Glu) c.4467T>A (p.Asp1489Glu) c.2364T>A (p.Asp788Glu) c.4806T>A (p.Asp1602Glu) c.4797T>A (p.Asp1599Glu) c.4788T>A (p.Asp1596Glu) c.3126T>A (p.Asp1042Glu) | |
X | g.108694891T>C | CA517925886 | COL4A5 | c.4791T>C (p.Asp1597=) c.4773T>C (p.Asp1591=) n.1285T>C n.1277T>C c.189T>C (p.Asp63=) c.325-1406T>C c.4782T>C (p.Asp1594=) c.4467T>C (p.Asp1489=) c.2364T>C (p.Asp788=) c.4806T>C (p.Asp1602=) c.4797T>C (p.Asp1599=) c.4788T>C (p.Asp1596=) c.3126T>C (p.Asp1042=) | |
X | g.108694891T>G | CA414132562 | COL4A5 | c.4791T>G (p.Asp1597Glu) c.4773T>G (p.Asp1591Glu) n.1285T>G n.1277T>G c.189T>G (p.Asp63Glu) c.325-1406T>G c.4782T>G (p.Asp1594Glu) c.4467T>G (p.Asp1489Glu) c.2364T>G (p.Asp788Glu) c.4806T>G (p.Asp1602Glu) c.4797T>G (p.Asp1599Glu) c.4788T>G (p.Asp1596Glu) c.3126T>G (p.Asp1042Glu) | |
X | g.108694892T>A | CA414132564 | COL4A5 | c.4792T>A (p.Ser1598Thr) c.4774T>A (p.Ser1592Thr) n.1286T>A n.1278T>A c.190T>A (p.Ser64Thr) c.325-1405T>A c.4783T>A (p.Ser1595Thr) c.4468T>A (p.Ser1490Thr) c.2365T>A (p.Ser789Thr) c.4807T>A (p.Ser1603Thr) c.4798T>A (p.Ser1600Thr) c.4789T>A (p.Ser1597Thr) c.3127T>A (p.Ser1043Thr) | |
X | g.108694892T>C | CA414132565 | COL4A5 | c.4792T>C (p.Ser1598Pro) c.4774T>C (p.Ser1592Pro) n.1286T>C n.1278T>C c.190T>C (p.Ser64Pro) c.325-1405T>C c.4783T>C (p.Ser1595Pro) c.4468T>C (p.Ser1490Pro) c.2365T>C (p.Ser789Pro) c.4807T>C (p.Ser1603Pro) c.4798T>C (p.Ser1600Pro) c.4789T>C (p.Ser1597Pro) c.3127T>C (p.Ser1043Pro) | |
X | g.108694892T>G | CA414132566 | COL4A5 | c.4792T>G (p.Ser1598Ala) c.4774T>G (p.Ser1592Ala) n.1286T>G n.1278T>G c.190T>G (p.Ser64Ala) c.325-1405T>G c.4783T>G (p.Ser1595Ala) c.4468T>G (p.Ser1490Ala) c.2365T>G (p.Ser789Ala) c.4807T>G (p.Ser1603Ala) c.4798T>G (p.Ser1600Ala) c.4789T>G (p.Ser1597Ala) c.3127T>G (p.Ser1043Ala) | |
X | g.108694895_108694896del | CA2579677299 | COL4A5 | c.4795_4796del (p.Leu1599ValfsTer?) c.4777_4778del (p.Leu1593ValfsTer?) n.1289_1290del n.1281_1282del c.193_194del (p.Leu65ValfsTer16) c.325-1402_325-1401del c.4786_4787del (p.Leu1596ValfsTer?) c.4471_4472del (p.Leu1491ValfsTer?) c.2368_2369del (p.Leu790ValfsTer?) c.4810_4811del (p.Leu1604ValfsTer?) c.4801_4802del (p.Leu1601ValfsTer?) c.4792_4793del (p.Leu1598ValfsTer?) c.3130_3131del (p.Leu1044ValfsTer?) | |
X | g.108694893C>A | CA10489421 | COL4A5 | c.4793C>A (p.Ser1598Tyr) c.4775C>A (p.Ser1592Tyr) n.1287C>A n.1279C>A c.191C>A (p.Ser64Tyr) c.325-1404C>A c.4784C>A (p.Ser1595Tyr) c.4469C>A (p.Ser1490Tyr) c.2366C>A (p.Ser789Tyr) c.4808C>A (p.Ser1603Tyr) c.4799C>A (p.Ser1600Tyr) c.4790C>A (p.Ser1597Tyr) c.3128C>A (p.Ser1043Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108694893C= | CA2450721602 | COL4A5 | c.4793C= (p.Ser1598=) c.4775C= (p.Ser1592=) n.1287C= n.1279C= c.191C= (p.Ser64=) c.325-1404C= c.4784C= (p.Ser1595=) c.4469C= (p.Ser1490=) c.2366C= (p.Ser789=) c.4808C= (p.Ser1603=) c.4799C= (p.Ser1600=) c.4790C= (p.Ser1597=) c.3128C= (p.Ser1043=) | |
X | g.108694893C>G | CA414132567 | COL4A5 | c.4793C>G (p.Ser1598Cys) c.4775C>G (p.Ser1592Cys) n.1287C>G n.1279C>G c.191C>G (p.Ser64Cys) c.325-1404C>G c.4784C>G (p.Ser1595Cys) c.4469C>G (p.Ser1490Cys) c.2366C>G (p.Ser789Cys) c.4808C>G (p.Ser1603Cys) c.4799C>G (p.Ser1600Cys) c.4790C>G (p.Ser1597Cys) c.3128C>G (p.Ser1043Cys) | |
X | g.108694893C>T | CA414132568 | COL4A5 | c.4793C>T (p.Ser1598Phe) c.4775C>T (p.Ser1592Phe) n.1287C>T n.1279C>T c.191C>T (p.Ser64Phe) c.325-1404C>T c.4784C>T (p.Ser1595Phe) c.4469C>T (p.Ser1490Phe) c.2366C>T (p.Ser789Phe) c.4808C>T (p.Ser1603Phe) c.4799C>T (p.Ser1600Phe) c.4790C>T (p.Ser1597Phe) c.3128C>T (p.Ser1043Phe) | |
X | g.108694894T>A | CA517925898 | COL4A5 | c.4794T>A (p.Ser1598=) c.4776T>A (p.Ser1592=) n.1288T>A n.1280T>A c.192T>A (p.Ser64=) c.325-1403T>A c.4785T>A (p.Ser1595=) c.4470T>A (p.Ser1490=) c.2367T>A (p.Ser789=) c.4809T>A (p.Ser1603=) c.4800T>A (p.Ser1600=) c.4791T>A (p.Ser1597=) c.3129T>A (p.Ser1043=) | |
X | g.108694894T>C | CA517925902 | COL4A5 | c.4794T>C (p.Ser1598=) c.4776T>C (p.Ser1592=) n.1288T>C n.1280T>C c.192T>C (p.Ser64=) c.325-1403T>C c.4785T>C (p.Ser1595=) c.4470T>C (p.Ser1490=) c.2367T>C (p.Ser789=) c.4809T>C (p.Ser1603=) c.4800T>C (p.Ser1600=) c.4791T>C (p.Ser1597=) c.3129T>C (p.Ser1043=) | |
X | g.108694894T>G | CA517925894 | COL4A5 | c.4794T>G (p.Ser1598=) c.4776T>G (p.Ser1592=) n.1288T>G n.1280T>G c.192T>G (p.Ser64=) c.325-1403T>G c.4785T>G (p.Ser1595=) c.4470T>G (p.Ser1490=) c.2367T>G (p.Ser789=) c.4809T>G (p.Ser1603=) c.4800T>G (p.Ser1600=) c.4791T>G (p.Ser1597=) c.3129T>G (p.Ser1043=) | |
X | g.108694895C>A | CA414132569 | COL4A5 | c.4795C>A (p.Leu1599Met) c.4777C>A (p.Leu1593Met) n.1289C>A n.1281C>A c.193C>A (p.Leu65Met) c.325-1402C>A c.4786C>A (p.Leu1596Met) c.4471C>A (p.Leu1491Met) c.2368C>A (p.Leu790Met) c.4810C>A (p.Leu1604Met) c.4801C>A (p.Leu1601Met) c.4792C>A (p.Leu1598Met) c.3130C>A (p.Leu1044Met) | |
X | g.108694895C>G | CA414132570 | COL4A5 | c.4795C>G (p.Leu1599Val) c.4777C>G (p.Leu1593Val) n.1289C>G n.1281C>G c.193C>G (p.Leu65Val) c.325-1402C>G c.4786C>G (p.Leu1596Val) c.4471C>G (p.Leu1491Val) c.2368C>G (p.Leu790Val) c.4810C>G (p.Leu1604Val) c.4801C>G (p.Leu1601Val) c.4792C>G (p.Leu1598Val) c.3130C>G (p.Leu1044Val) | |
X | g.108694895C>T | CA517925904 | COL4A5 | c.4795C>T (p.Leu1599=) c.4777C>T (p.Leu1593=) n.1289C>T n.1281C>T c.193C>T (p.Leu65=) c.325-1402C>T c.4786C>T (p.Leu1596=) c.4471C>T (p.Leu1491=) c.2368C>T (p.Leu790=) c.4810C>T (p.Leu1604=) c.4801C>T (p.Leu1601=) c.4792C>T (p.Leu1598=) c.3130C>T (p.Leu1044=) | |
X | g.108694895_108694897delinsCTG | CA2450721603 | COL4A5 | c.4795_4797delinsCTG (p.Leu1599=) c.4777_4779delinsCTG (p.Leu1593=) n.1289_1291delinsCTG n.1281_1283delinsCTG c.193_195delinsCTG (p.Leu65=) c.325-1402_325-1400delinsCTG c.4786_4788delinsCTG (p.Leu1596=) c.4471_4473delinsCTG (p.Leu1491=) c.2368_2370delinsCTG (p.Leu790=) c.4810_4812delinsCTG (p.Leu1604=) c.4801_4803delinsCTG (p.Leu1601=) c.4792_4794delinsCTG (p.Leu1598=) c.3130_3132delinsCTG (p.Leu1044=) | |
X | g.108694896T>A | CA414132571 | COL4A5 | c.4796T>A (p.Leu1599Gln) c.4778T>A (p.Leu1593Gln) n.1290T>A n.1282T>A c.194T>A (p.Leu65Gln) c.325-1401T>A c.4787T>A (p.Leu1596Gln) c.4472T>A (p.Leu1491Gln) c.2369T>A (p.Leu790Gln) c.4811T>A (p.Leu1604Gln) c.4802T>A (p.Leu1601Gln) c.4793T>A (p.Leu1598Gln) c.3131T>A (p.Leu1044Gln) | |
X | g.108694896T>C | CA414132572 | COL4A5 | c.4796T>C (p.Leu1599Pro) c.4778T>C (p.Leu1593Pro) n.1290T>C n.1282T>C c.194T>C (p.Leu65Pro) c.325-1401T>C c.4787T>C (p.Leu1596Pro) c.4472T>C (p.Leu1491Pro) c.2369T>C (p.Leu790Pro) c.4811T>C (p.Leu1604Pro) c.4802T>C (p.Leu1601Pro) c.4793T>C (p.Leu1598Pro) c.3131T>C (p.Leu1044Pro) | |
X | g.108694896T>G | CA414132573 | COL4A5 | c.4796T>G (p.Leu1599Arg) c.4778T>G (p.Leu1593Arg) n.1290T>G n.1282T>G c.194T>G (p.Leu65Arg) c.325-1401T>G c.4787T>G (p.Leu1596Arg) c.4472T>G (p.Leu1491Arg) c.2369T>G (p.Leu790Arg) c.4811T>G (p.Leu1604Arg) c.4802T>G (p.Leu1601Arg) c.4793T>G (p.Leu1598Arg) c.3131T>G (p.Leu1044Arg) | |
X | g.108694898_108694899del | CA261105 | COL4A5 | c.4798_4799del (p.Trp1600AspfsTer?) c.4780_4781del (p.Trp1594AspfsTer?) n.1292_1293del n.1284_1285del c.196_197del (p.Trp66AspfsTer15) c.325-1399_325-1398del c.4789_4790del (p.Trp1597AspfsTer?) c.4474_4475del (p.Trp1492AspfsTer?) c.2371_2372del (p.Trp791AspfsTer?) c.4813_4814del (p.Trp1605AspfsTer?) c.4804_4805del (p.Trp1602AspfsTer?) c.4795_4796del (p.Trp1599AspfsTer?) c.3133_3134del (p.Trp1045AspfsTer?) | dbSNP |
X | g.108694897G>A | CA517925913 | COL4A5 | c.4797G>A (p.Leu1599=) c.4779G>A (p.Leu1593=) n.1291G>A n.1283G>A c.195G>A (p.Leu65=) c.325-1400G>A c.4788G>A (p.Leu1596=) c.4473G>A (p.Leu1491=) c.2370G>A (p.Leu790=) c.4812G>A (p.Leu1604=) c.4803G>A (p.Leu1601=) c.4794G>A (p.Leu1598=) c.3132G>A (p.Leu1044=) | |
X | g.108694897G>C | CA517925917 | COL4A5 | c.4797G>C (p.Leu1599=) c.4779G>C (p.Leu1593=) n.1291G>C n.1283G>C c.195G>C (p.Leu65=) c.325-1400G>C c.4788G>C (p.Leu1596=) c.4473G>C (p.Leu1491=) c.2370G>C (p.Leu790=) c.4812G>C (p.Leu1604=) c.4803G>C (p.Leu1601=) c.4794G>C (p.Leu1598=) c.3132G>C (p.Leu1044=) | |
X | g.108694897G>T | CA517925921 | COL4A5 | c.4797G>T (p.Leu1599=) c.4779G>T (p.Leu1593=) n.1291G>T n.1283G>T c.195G>T (p.Leu65=) c.325-1400G>T c.4788G>T (p.Leu1596=) c.4473G>T (p.Leu1491=) c.2370G>T (p.Leu790=) c.4812G>T (p.Leu1604=) c.4803G>T (p.Leu1601=) c.4794G>T (p.Leu1598=) c.3132G>T (p.Leu1044=) | |
X | g.108694898T>A | CA414132575 | COL4A5 | c.4798T>A (p.Trp1600Arg) c.4780T>A (p.Trp1594Arg) n.1292T>A n.1284T>A c.196T>A (p.Trp66Arg) c.325-1399T>A c.4789T>A (p.Trp1597Arg) c.4474T>A (p.Trp1492Arg) c.2371T>A (p.Trp791Arg) c.4813T>A (p.Trp1605Arg) c.4804T>A (p.Trp1602Arg) c.4795T>A (p.Trp1599Arg) c.3133T>A (p.Trp1045Arg) | |
X | g.108694898T>C | CA414132576 | COL4A5 | c.4798T>C (p.Trp1600Arg) c.4780T>C (p.Trp1594Arg) n.1292T>C n.1284T>C c.196T>C (p.Trp66Arg) c.325-1399T>C c.4789T>C (p.Trp1597Arg) c.4474T>C (p.Trp1492Arg) c.2371T>C (p.Trp791Arg) c.4813T>C (p.Trp1605Arg) c.4804T>C (p.Trp1602Arg) c.4795T>C (p.Trp1599Arg) c.3133T>C (p.Trp1045Arg) | |
X | g.108694898T>G | CA414132574 | COL4A5 | c.4798T>G (p.Trp1600Gly) c.4780T>G (p.Trp1594Gly) n.1292T>G n.1284T>G c.196T>G (p.Trp66Gly) c.325-1399T>G c.4789T>G (p.Trp1597Gly) c.4474T>G (p.Trp1492Gly) c.2371T>G (p.Trp791Gly) c.4813T>G (p.Trp1605Gly) c.4804T>G (p.Trp1602Gly) c.4795T>G (p.Trp1599Gly) c.3133T>G (p.Trp1045Gly) | |
X | g.108694899G>A | CA414132579 | COL4A5 | c.4799G>A (p.Trp1600Ter) c.4781G>A (p.Trp1594Ter) n.1293G>A n.1285G>A c.197G>A (p.Trp66Ter) c.325-1398G>A c.4790G>A (p.Trp1597Ter) c.4475G>A (p.Trp1492Ter) c.2372G>A (p.Trp791Ter) c.4814G>A (p.Trp1605Ter) c.4805G>A (p.Trp1602Ter) c.4796G>A (p.Trp1599Ter) c.3134G>A (p.Trp1045Ter) | |
X | g.108694899G>C | CA414132577 | COL4A5 | c.4799G>C (p.Trp1600Ser) c.4781G>C (p.Trp1594Ser) n.1293G>C n.1285G>C c.197G>C (p.Trp66Ser) c.325-1398G>C c.4790G>C (p.Trp1597Ser) c.4475G>C (p.Trp1492Ser) c.2372G>C (p.Trp791Ser) c.4814G>C (p.Trp1605Ser) c.4805G>C (p.Trp1602Ser) c.4796G>C (p.Trp1599Ser) c.3134G>C (p.Trp1045Ser) | |
X | g.108694899G>T | CA414132578 | COL4A5 | c.4799G>T (p.Trp1600Leu) c.4781G>T (p.Trp1594Leu) n.1293G>T n.1285G>T c.197G>T (p.Trp66Leu) c.325-1398G>T c.4790G>T (p.Trp1597Leu) c.4475G>T (p.Trp1492Leu) c.2372G>T (p.Trp791Leu) c.4814G>T (p.Trp1605Leu) c.4805G>T (p.Trp1602Leu) c.4796G>T (p.Trp1599Leu) c.3134G>T (p.Trp1045Leu) | |
X | g.108694900G>A | CA414132580 | COL4A5 | c.4800G>A (p.Trp1600Ter) c.4782G>A (p.Trp1594Ter) n.1294G>A n.1286G>A c.198G>A (p.Trp66Ter) c.325-1397G>A c.4791G>A (p.Trp1597Ter) c.4476G>A (p.Trp1492Ter) c.2373G>A (p.Trp791Ter) c.4815G>A (p.Trp1605Ter) c.4806G>A (p.Trp1602Ter) c.4797G>A (p.Trp1599Ter) c.3135G>A (p.Trp1045Ter) | |
X | g.108694900G>C | CA414132581 | COL4A5 | c.4800G>C (p.Trp1600Cys) c.4782G>C (p.Trp1594Cys) n.1294G>C n.1286G>C c.198G>C (p.Trp66Cys) c.325-1397G>C c.4791G>C (p.Trp1597Cys) c.4476G>C (p.Trp1492Cys) c.2373G>C (p.Trp791Cys) c.4815G>C (p.Trp1605Cys) c.4806G>C (p.Trp1602Cys) c.4797G>C (p.Trp1599Cys) c.3135G>C (p.Trp1045Cys) | |
X | g.108694900G= | CA2450721604 | COL4A5 | c.4800G= (p.Trp1600=) c.4782G= (p.Trp1594=) n.1294G= n.1286G= c.198G= (p.Trp66=) c.325-1397G= c.4791G= (p.Trp1597=) c.4476G= (p.Trp1492=) c.2373G= (p.Trp791=) c.4815G= (p.Trp1605=) c.4806G= (p.Trp1602=) c.4797G= (p.Trp1599=) c.3135G= (p.Trp1045=) | |
X | g.108694900G>T | CA414132582 | COL4A5 | c.4800G>T (p.Trp1600Cys) c.4782G>T (p.Trp1594Cys) n.1294G>T n.1286G>T c.198G>T (p.Trp66Cys) c.325-1397G>T c.4791G>T (p.Trp1597Cys) c.4476G>T (p.Trp1492Cys) c.2373G>T (p.Trp791Cys) c.4815G>T (p.Trp1605Cys) c.4806G>T (p.Trp1602Cys) c.4797G>T (p.Trp1599Cys) c.3135G>T (p.Trp1045Cys) | |
X | g.108694901A>C | CA414132583 | COL4A5 | c.4801A>C (p.Ile1601Leu) c.4783A>C (p.Ile1595Leu) n.1295A>C n.1287A>C c.199A>C (p.Ile67Leu) c.325-1396A>C c.4792A>C (p.Ile1598Leu) c.4477A>C (p.Ile1493Leu) c.2374A>C (p.Ile792Leu) c.4816A>C (p.Ile1606Leu) c.4807A>C (p.Ile1603Leu) c.4798A>C (p.Ile1600Leu) c.3136A>C (p.Ile1046Leu) | |
X | g.108694901A>G | CA414132584 | COL4A5 | c.4801A>G (p.Ile1601Val) c.4783A>G (p.Ile1595Val) n.1295A>G n.1287A>G c.199A>G (p.Ile67Val) c.325-1396A>G c.4792A>G (p.Ile1598Val) c.4477A>G (p.Ile1493Val) c.2374A>G (p.Ile792Val) c.4816A>G (p.Ile1606Val) c.4807A>G (p.Ile1603Val) c.4798A>G (p.Ile1600Val) c.3136A>G (p.Ile1046Val) | |
X | g.108694901A>T | CA414132585 | COL4A5 | c.4801A>T (p.Ile1601Phe) c.4783A>T (p.Ile1595Phe) n.1295A>T n.1287A>T c.199A>T (p.Ile67Phe) c.325-1396A>T c.4792A>T (p.Ile1598Phe) c.4477A>T (p.Ile1493Phe) c.2374A>T (p.Ile792Phe) c.4816A>T (p.Ile1606Phe) c.4807A>T (p.Ile1603Phe) c.4798A>T (p.Ile1600Phe) c.3136A>T (p.Ile1046Phe) | |
X | g.108694902T>A | CA414132586 | COL4A5 | c.4802T>A (p.Ile1601Asn) c.4784T>A (p.Ile1595Asn) n.1296T>A n.1288T>A c.200T>A (p.Ile67Asn) c.325-1395T>A c.4793T>A (p.Ile1598Asn) c.4478T>A (p.Ile1493Asn) c.2375T>A (p.Ile792Asn) c.4817T>A (p.Ile1606Asn) c.4808T>A (p.Ile1603Asn) c.4799T>A (p.Ile1600Asn) c.3137T>A (p.Ile1046Asn) | |
X | g.108694902T>C | CA334063037 | COL4A5 | c.4802T>C (p.Ile1601Thr) c.4784T>C (p.Ile1595Thr) n.1296T>C n.1288T>C c.200T>C (p.Ile67Thr) c.325-1395T>C c.4793T>C (p.Ile1598Thr) c.4478T>C (p.Ile1493Thr) c.2375T>C (p.Ile792Thr) c.4817T>C (p.Ile1606Thr) c.4808T>C (p.Ile1603Thr) c.4799T>C (p.Ile1600Thr) c.3137T>C (p.Ile1046Thr) | dbSNP gnomAD v4 |
X | g.108694902T>G | CA414132587 | COL4A5 | c.4802T>G (p.Ile1601Ser) c.4784T>G (p.Ile1595Ser) n.1296T>G n.1288T>G c.200T>G (p.Ile67Ser) c.325-1395T>G c.4793T>G (p.Ile1598Ser) c.4478T>G (p.Ile1493Ser) c.2375T>G (p.Ile792Ser) c.4817T>G (p.Ile1606Ser) c.4808T>G (p.Ile1603Ser) c.4799T>G (p.Ile1600Ser) c.3137T>G (p.Ile1046Ser) | |
X | g.108694902T= | CA2450721605 | COL4A5 | c.4802T= (p.Ile1601=) c.4784T= (p.Ile1595=) n.1296T= n.1288T= c.200T= (p.Ile67=) c.325-1395T= c.4793T= (p.Ile1598=) c.4478T= (p.Ile1493=) c.2375T= (p.Ile792=) c.4817T= (p.Ile1606=) c.4808T= (p.Ile1603=) c.4799T= (p.Ile1600=) c.3137T= (p.Ile1046=) | |
X | g.108694903T>A | CA517925940 | COL4A5 | c.4803T>A (p.Ile1601=) c.4785T>A (p.Ile1595=) n.1297T>A n.1289T>A c.201T>A (p.Ile67=) c.325-1394T>A c.4794T>A (p.Ile1598=) c.4479T>A (p.Ile1493=) c.2376T>A (p.Ile792=) c.4818T>A (p.Ile1606=) c.4809T>A (p.Ile1603=) c.4800T>A (p.Ile1600=) c.3138T>A (p.Ile1046=) | |
X | g.108694903T>C | CA517925942 | COL4A5 | c.4803T>C (p.Ile1601=) c.4785T>C (p.Ile1595=) n.1297T>C n.1289T>C c.201T>C (p.Ile67=) c.325-1394T>C c.4794T>C (p.Ile1598=) c.4479T>C (p.Ile1493=) c.2376T>C (p.Ile792=) c.4818T>C (p.Ile1606=) c.4809T>C (p.Ile1603=) c.4800T>C (p.Ile1600=) c.3138T>C (p.Ile1046=) | |
X | g.108694903T>G | CA414132588 | COL4A5 | c.4803T>G (p.Ile1601Met) c.4785T>G (p.Ile1595Met) n.1297T>G n.1289T>G c.201T>G (p.Ile67Met) c.325-1394T>G c.4794T>G (p.Ile1598Met) c.4479T>G (p.Ile1493Met) c.2376T>G (p.Ile792Met) c.4818T>G (p.Ile1606Met) c.4809T>G (p.Ile1603Met) c.4800T>G (p.Ile1600Met) c.3138T>G (p.Ile1046Met) | |
X | g.108694904G>A | CA334063046 | COL4A5 | c.4804G>A (p.Gly1602Ser) c.4786G>A (p.Gly1596Ser) n.1298G>A n.1290G>A c.202G>A (p.Gly68Ser) c.325-1393G>A c.4795G>A (p.Gly1599Ser) c.4480G>A (p.Gly1494Ser) c.2377G>A (p.Gly793Ser) c.4819G>A (p.Gly1607Ser) c.4810G>A (p.Gly1604Ser) c.4801G>A (p.Gly1601Ser) c.3139G>A (p.Gly1047Ser) | ClinVar dbSNP COSMIC COSMIC |
X | g.108694904G>C | CA414132589 | COL4A5 | c.4804G>C (p.Gly1602Arg) c.4786G>C (p.Gly1596Arg) n.1298G>C n.1290G>C c.202G>C (p.Gly68Arg) c.325-1393G>C c.4795G>C (p.Gly1599Arg) c.4480G>C (p.Gly1494Arg) c.2377G>C (p.Gly793Arg) c.4819G>C (p.Gly1607Arg) c.4810G>C (p.Gly1604Arg) c.4801G>C (p.Gly1601Arg) c.3139G>C (p.Gly1047Arg) | |
X | g.108694904G= | CA2450721606 | COL4A5 | c.4804G= (p.Gly1602=) c.4786G= (p.Gly1596=) n.1298G= n.1290G= c.202G= (p.Gly68=) c.325-1393G= c.4795G= (p.Gly1599=) c.4480G= (p.Gly1494=) c.2377G= (p.Gly793=) c.4819G= (p.Gly1607=) c.4810G= (p.Gly1604=) c.4801G= (p.Gly1601=) c.3139G= (p.Gly1047=) | |
X | g.108694904G>T | CA414132590 | COL4A5 | c.4804G>T (p.Gly1602Cys) c.4786G>T (p.Gly1596Cys) n.1298G>T n.1290G>T c.202G>T (p.Gly68Cys) c.325-1393G>T c.4795G>T (p.Gly1599Cys) c.4480G>T (p.Gly1494Cys) c.2377G>T (p.Gly793Cys) c.4819G>T (p.Gly1607Cys) c.4810G>T (p.Gly1604Cys) c.4801G>T (p.Gly1601Cys) c.3139G>T (p.Gly1047Cys) | |
X | g.108694905G>A | CA259115 | COL4A5 | c.4805G>A (p.Gly1602Asp) c.4787G>A (p.Gly1596Asp) n.1299G>A n.1291G>A c.203G>A (p.Gly68Asp) c.325-1392G>A c.4796G>A (p.Gly1599Asp) c.4481G>A (p.Gly1494Asp) c.2378G>A (p.Gly793Asp) c.4820G>A (p.Gly1607Asp) c.4811G>A (p.Gly1604Asp) c.4802G>A (p.Gly1601Asp) c.3140G>A (p.Gly1047Asp) | dbSNP |
X | g.108694905G>C | CA414132591 | COL4A5 | c.4805G>C (p.Gly1602Ala) c.4787G>C (p.Gly1596Ala) n.1299G>C n.1291G>C c.203G>C (p.Gly68Ala) c.325-1392G>C c.4796G>C (p.Gly1599Ala) c.4481G>C (p.Gly1494Ala) c.2378G>C (p.Gly793Ala) c.4820G>C (p.Gly1607Ala) c.4811G>C (p.Gly1604Ala) c.4802G>C (p.Gly1601Ala) c.3140G>C (p.Gly1047Ala) | |
X | g.108694905G= | CA2450721607 | COL4A5 | c.4805G= (p.Gly1602=) c.4787G= (p.Gly1596=) n.1299G= n.1291G= c.203G= (p.Gly68=) c.325-1392G= c.4796G= (p.Gly1599=) c.4481G= (p.Gly1494=) c.2378G= (p.Gly793=) c.4820G= (p.Gly1607=) c.4811G= (p.Gly1604=) c.4802G= (p.Gly1601=) c.3140G= (p.Gly1047=) | |
X | g.108694905G>T | CA414132592 | COL4A5 | c.4805G>T (p.Gly1602Val) c.4787G>T (p.Gly1596Val) n.1299G>T n.1291G>T c.203G>T (p.Gly68Val) c.325-1392G>T c.4796G>T (p.Gly1599Val) c.4481G>T (p.Gly1494Val) c.2378G>T (p.Gly793Val) c.4820G>T (p.Gly1607Val) c.4811G>T (p.Gly1604Val) c.4802G>T (p.Gly1601Val) c.3140G>T (p.Gly1047Val) | |
X | g.108694906T>A | CA517925952 | COL4A5 | c.4806T>A (p.Gly1602=) c.4788T>A (p.Gly1596=) n.1300T>A n.1292T>A c.204T>A (p.Gly68=) c.325-1391T>A c.4797T>A (p.Gly1599=) c.4482T>A (p.Gly1494=) c.2379T>A (p.Gly793=) c.4821T>A (p.Gly1607=) c.4812T>A (p.Gly1604=) c.4803T>A (p.Gly1601=) c.3141T>A (p.Gly1047=) | |
X | g.108694906T>C | CA517925959 | COL4A5 | c.4806T>C (p.Gly1602=) c.4788T>C (p.Gly1596=) n.1300T>C n.1292T>C c.204T>C (p.Gly68=) c.325-1391T>C c.4797T>C (p.Gly1599=) c.4482T>C (p.Gly1494=) c.2379T>C (p.Gly793=) c.4821T>C (p.Gly1607=) c.4812T>C (p.Gly1604=) c.4803T>C (p.Gly1601=) c.3141T>C (p.Gly1047=) | |
X | g.108694906T>G | CA517925957 | COL4A5 | c.4806T>G (p.Gly1602=) c.4788T>G (p.Gly1596=) n.1300T>G n.1292T>G c.204T>G (p.Gly68=) c.325-1391T>G c.4797T>G (p.Gly1599=) c.4482T>G (p.Gly1494=) c.2379T>G (p.Gly793=) c.4821T>G (p.Gly1607=) c.4812T>G (p.Gly1604=) c.4803T>G (p.Gly1601=) c.3141T>G (p.Gly1047=) | |
X | g.108694907T>A | CA414132593 | COL4A5 | c.4807T>A (p.Tyr1603Asn) c.4789T>A (p.Tyr1597Asn) n.1301T>A n.1293T>A c.205T>A (p.Tyr69Asn) c.325-1390T>A c.4798T>A (p.Tyr1600Asn) c.4483T>A (p.Tyr1495Asn) c.2380T>A (p.Tyr794Asn) c.4822T>A (p.Tyr1608Asn) c.4813T>A (p.Tyr1605Asn) c.4804T>A (p.Tyr1602Asn) c.3142T>A (p.Tyr1048Asn) | |
X | g.108694907T>C | CA334063056 | COL4A5 | c.4807T>C (p.Tyr1603His) c.4789T>C (p.Tyr1597His) n.1301T>C n.1293T>C c.205T>C (p.Tyr69His) c.325-1390T>C c.4798T>C (p.Tyr1600His) c.4483T>C (p.Tyr1495His) c.2380T>C (p.Tyr794His) c.4822T>C (p.Tyr1608His) c.4813T>C (p.Tyr1605His) c.4804T>C (p.Tyr1602His) c.3142T>C (p.Tyr1048His) | dbSNP |
X | g.108694907T>G | CA414132594 | COL4A5 | c.4807T>G (p.Tyr1603Asp) c.4789T>G (p.Tyr1597Asp) n.1301T>G n.1293T>G c.205T>G (p.Tyr69Asp) c.325-1390T>G c.4798T>G (p.Tyr1600Asp) c.4483T>G (p.Tyr1495Asp) c.2380T>G (p.Tyr794Asp) c.4822T>G (p.Tyr1608Asp) c.4813T>G (p.Tyr1605Asp) c.4804T>G (p.Tyr1602Asp) c.3142T>G (p.Tyr1048Asp) | |
X | g.108694907T= | CA2450721608 | COL4A5 | c.4807T= (p.Tyr1603=) c.4789T= (p.Tyr1597=) n.1301T= n.1293T= c.205T= (p.Tyr69=) c.325-1390T= c.4798T= (p.Tyr1600=) c.4483T= (p.Tyr1495=) c.2380T= (p.Tyr794=) c.4822T= (p.Tyr1608=) c.4813T= (p.Tyr1605=) c.4804T= (p.Tyr1602=) c.3142T= (p.Tyr1048=) | |
X | g.108694908A= | CA2450721609 | COL4A5 | c.4808A= (p.Tyr1603=) c.4790A= (p.Tyr1597=) n.1302A= n.1294A= c.206A= (p.Tyr69=) c.325-1389A= c.4799A= (p.Tyr1600=) c.4484A= (p.Tyr1495=) c.2381A= (p.Tyr794=) c.4823A= (p.Tyr1608=) c.4814A= (p.Tyr1605=) c.4805A= (p.Tyr1602=) c.3143A= (p.Tyr1048=) | |
X | g.108694908A>C | CA414132595 | COL4A5 | c.4808A>C (p.Tyr1603Ser) c.4790A>C (p.Tyr1597Ser) n.1302A>C n.1294A>C c.206A>C (p.Tyr69Ser) c.325-1389A>C c.4799A>C (p.Tyr1600Ser) c.4484A>C (p.Tyr1495Ser) c.2381A>C (p.Tyr794Ser) c.4823A>C (p.Tyr1608Ser) c.4814A>C (p.Tyr1605Ser) c.4805A>C (p.Tyr1602Ser) c.3143A>C (p.Tyr1048Ser) | |
X | g.108694908A>G | CA259117 | COL4A5 | c.4808A>G (p.Tyr1603Cys) c.4790A>G (p.Tyr1597Cys) n.1302A>G n.1294A>G c.206A>G (p.Tyr69Cys) c.325-1389A>G c.4799A>G (p.Tyr1600Cys) c.4484A>G (p.Tyr1495Cys) c.2381A>G (p.Tyr794Cys) c.4823A>G (p.Tyr1608Cys) c.4814A>G (p.Tyr1605Cys) c.4805A>G (p.Tyr1602Cys) c.3143A>G (p.Tyr1048Cys) | ClinVar dbSNP |
X | g.108694908A>T | CA414132596 | COL4A5 | c.4808A>T (p.Tyr1603Phe) c.4790A>T (p.Tyr1597Phe) n.1302A>T n.1294A>T c.206A>T (p.Tyr69Phe) c.325-1389A>T c.4799A>T (p.Tyr1600Phe) c.4484A>T (p.Tyr1495Phe) c.2381A>T (p.Tyr794Phe) c.4823A>T (p.Tyr1608Phe) c.4814A>T (p.Tyr1605Phe) c.4805A>T (p.Tyr1602Phe) c.3143A>T (p.Tyr1048Phe) | |
X | g.108694908dup | CA2695235248 | COL4A5 | c.4808dup (p.Tyr1603Ter) c.4790dup (p.Tyr1597Ter) n.1302dup n.1294dup c.206dup (p.Tyr69Ter) c.325-1389dup c.4799dup (p.Tyr1600Ter) c.4484dup (p.Tyr1495Ter) c.2381dup (p.Tyr794Ter) c.4823dup (p.Tyr1608Ter) c.4814dup (p.Tyr1605Ter) c.4805dup (p.Tyr1602Ter) c.3143dup (p.Tyr1048Ter) | |
X | g.108694909T>A | CA259120 | COL4A5 | c.4809T>A (p.Tyr1603Ter) c.4791T>A (p.Tyr1597Ter) n.1303T>A n.1295T>A c.207T>A (p.Tyr69Ter) c.325-1388T>A c.4800T>A (p.Tyr1600Ter) c.4485T>A (p.Tyr1495Ter) c.2382T>A (p.Tyr794Ter) c.4824T>A (p.Tyr1608Ter) c.4815T>A (p.Tyr1605Ter) c.4806T>A (p.Tyr1602Ter) c.3144T>A (p.Tyr1048Ter) | dbSNP |
X | g.108694909T>C | CA517925969 | COL4A5 | c.4809T>C (p.Tyr1603=) c.4791T>C (p.Tyr1597=) n.1303T>C n.1295T>C c.207T>C (p.Tyr69=) c.325-1388T>C c.4800T>C (p.Tyr1600=) c.4485T>C (p.Tyr1495=) c.2382T>C (p.Tyr794=) c.4824T>C (p.Tyr1608=) c.4815T>C (p.Tyr1605=) c.4806T>C (p.Tyr1602=) c.3144T>C (p.Tyr1048=) | gnomAD v4 |
X | g.108694909T>G | CA414132597 | COL4A5 | c.4809T>G (p.Tyr1603Ter) c.4791T>G (p.Tyr1597Ter) n.1303T>G n.1295T>G c.207T>G (p.Tyr69Ter) c.325-1388T>G c.4800T>G (p.Tyr1600Ter) c.4485T>G (p.Tyr1495Ter) c.2382T>G (p.Tyr794Ter) c.4824T>G (p.Tyr1608Ter) c.4815T>G (p.Tyr1605Ter) c.4806T>G (p.Tyr1602Ter) c.3144T>G (p.Tyr1048Ter) | ClinVar dbSNP gnomAD v4 |
X | g.108694909T= | CA2450721610 | COL4A5 | c.4809T= (p.Tyr1603=) c.4791T= (p.Tyr1597=) n.1303T= n.1295T= c.207T= (p.Tyr69=) c.325-1388T= c.4800T= (p.Tyr1600=) c.4485T= (p.Tyr1495=) c.2382T= (p.Tyr794=) c.4824T= (p.Tyr1608=) c.4815T= (p.Tyr1605=) c.4806T= (p.Tyr1602=) c.3144T= (p.Tyr1048=) | |
X | g.108694910T>A | CA414132599 | COL4A5 | c.4810T>A (p.Ser1604Thr) c.4792T>A (p.Ser1598Thr) n.1304T>A n.1296T>A c.208T>A (p.Ser70Thr) c.325-1387T>A c.4801T>A (p.Ser1601Thr) c.4486T>A (p.Ser1496Thr) c.2383T>A (p.Ser795Thr) c.4825T>A (p.Ser1609Thr) c.4816T>A (p.Ser1606Thr) c.4807T>A (p.Ser1603Thr) c.3145T>A (p.Ser1049Thr) | |
X | g.108694910T>C | CA414132600 | COL4A5 | c.4810T>C (p.Ser1604Pro) c.4792T>C (p.Ser1598Pro) n.1304T>C n.1296T>C c.208T>C (p.Ser70Pro) c.325-1387T>C c.4801T>C (p.Ser1601Pro) c.4486T>C (p.Ser1496Pro) c.2383T>C (p.Ser795Pro) c.4825T>C (p.Ser1609Pro) c.4816T>C (p.Ser1606Pro) c.4807T>C (p.Ser1603Pro) c.3145T>C (p.Ser1049Pro) | |
X | g.108694910T>G | CA414132598 | COL4A5 | c.4810T>G (p.Ser1604Ala) c.4792T>G (p.Ser1598Ala) n.1304T>G n.1296T>G c.208T>G (p.Ser70Ala) c.325-1387T>G c.4801T>G (p.Ser1601Ala) c.4486T>G (p.Ser1496Ala) c.2383T>G (p.Ser795Ala) c.4825T>G (p.Ser1609Ala) c.4816T>G (p.Ser1606Ala) c.4807T>G (p.Ser1603Ala) c.3145T>G (p.Ser1049Ala) | |
X | g.108694911C>A | CA414132601 | COL4A5 | c.4811C>A (p.Ser1604Tyr) c.4793C>A (p.Ser1598Tyr) n.1305C>A n.1297C>A c.209C>A (p.Ser70Tyr) c.325-1386C>A c.4802C>A (p.Ser1601Tyr) c.4487C>A (p.Ser1496Tyr) c.2384C>A (p.Ser795Tyr) c.4826C>A (p.Ser1609Tyr) c.4817C>A (p.Ser1606Tyr) c.4808C>A (p.Ser1603Tyr) c.3146C>A (p.Ser1049Tyr) | gnomAD v4 |
X | g.108694911C= | CA2450721611 | COL4A5 | c.4811C= (p.Ser1604=) c.4793C= (p.Ser1598=) n.1305C= n.1297C= c.209C= (p.Ser70=) c.325-1386C= c.4802C= (p.Ser1601=) c.4487C= (p.Ser1496=) c.2384C= (p.Ser795=) c.4826C= (p.Ser1609=) c.4817C= (p.Ser1606=) c.4808C= (p.Ser1603=) c.3146C= (p.Ser1049=) | |
X | g.108694911C>G | CA414132602 | COL4A5 | c.4811C>G (p.Ser1604Cys) c.4793C>G (p.Ser1598Cys) n.1305C>G n.1297C>G c.209C>G (p.Ser70Cys) c.325-1386C>G c.4802C>G (p.Ser1601Cys) c.4487C>G (p.Ser1496Cys) c.2384C>G (p.Ser795Cys) c.4826C>G (p.Ser1609Cys) c.4817C>G (p.Ser1606Cys) c.4808C>G (p.Ser1603Cys) c.3146C>G (p.Ser1049Cys) | |
X | g.108694911C>T | CA414132603 | COL4A5 | c.4811C>T (p.Ser1604Phe) c.4793C>T (p.Ser1598Phe) n.1305C>T n.1297C>T c.209C>T (p.Ser70Phe) c.325-1386C>T c.4802C>T (p.Ser1601Phe) c.4487C>T (p.Ser1496Phe) c.2384C>T (p.Ser795Phe) c.4826C>T (p.Ser1609Phe) c.4817C>T (p.Ser1606Phe) c.4808C>T (p.Ser1603Phe) c.3146C>T (p.Ser1049Phe) | ClinVar dbSNP |
X | g.108694911_108694916delinsTT | CA2695235249 | COL4A5 | c.4811_4816delinsTT (p.Ser1604PhefsTer2) c.4793_4798delinsTT (p.Ser1598PhefsTer2) n.1305_1310delinsTT n.1297_1302delinsTT c.209_214delinsTT (p.Ser70PhefsTer2) c.325-1386_325-1381delinsTT c.4802_4807delinsTT (p.Ser1601PhefsTer2) c.4487_4492delinsTT (p.Ser1496PhefsTer2) c.2384_2389delinsTT (p.Ser795PhefsTer2) c.4826_4831delinsTT (p.Ser1609PhefsTer2) c.4817_4822delinsTT (p.Ser1606PhefsTer2) c.4808_4813delinsTT (p.Ser1603PhefsTer2) c.3146_3151delinsTT (p.Ser1049PhefsTer2) | |
X | g.108694912C>A | CA517925975 | COL4A5 | c.4812C>A (p.Ser1604=) c.4794C>A (p.Ser1598=) n.1306C>A n.1298C>A c.210C>A (p.Ser70=) c.325-1385C>A c.4803C>A (p.Ser1601=) c.4488C>A (p.Ser1496=) c.2385C>A (p.Ser795=) c.4827C>A (p.Ser1609=) c.4818C>A (p.Ser1606=) c.4809C>A (p.Ser1603=) c.3147C>A (p.Ser1049=) | |
X | g.108694912C>G | CA517925976 | COL4A5 | c.4812C>G (p.Ser1604=) c.4794C>G (p.Ser1598=) n.1306C>G n.1298C>G c.210C>G (p.Ser70=) c.325-1385C>G c.4803C>G (p.Ser1601=) c.4488C>G (p.Ser1496=) c.2385C>G (p.Ser795=) c.4827C>G (p.Ser1609=) c.4818C>G (p.Ser1606=) c.4809C>G (p.Ser1603=) c.3147C>G (p.Ser1049=) | |
X | g.108694912C>T | CA517925977 | COL4A5 | c.4812C>T (p.Ser1604=) c.4794C>T (p.Ser1598=) n.1306C>T n.1298C>T c.210C>T (p.Ser70=) c.325-1385C>T c.4803C>T (p.Ser1601=) c.4488C>T (p.Ser1496=) c.2385C>T (p.Ser795=) c.4827C>T (p.Ser1609=) c.4818C>T (p.Ser1606=) c.4809C>T (p.Ser1603=) c.3147C>T (p.Ser1049=) | |
X | g.108694913T>A | CA414132604 | COL4A5 | c.4813T>A (p.Phe1605Ile) c.4795T>A (p.Phe1599Ile) n.1307T>A n.1299T>A c.211T>A (p.Phe71Ile) c.325-1384T>A c.4804T>A (p.Phe1602Ile) c.4489T>A (p.Phe1497Ile) c.2386T>A (p.Phe796Ile) c.4828T>A (p.Phe1610Ile) c.4819T>A (p.Phe1607Ile) c.4810T>A (p.Phe1604Ile) c.3148T>A (p.Phe1050Ile) | |
X | g.108694913T>C | CA414132605 | COL4A5 | c.4813T>C (p.Phe1605Leu) c.4795T>C (p.Phe1599Leu) n.1307T>C n.1299T>C c.211T>C (p.Phe71Leu) c.325-1384T>C c.4804T>C (p.Phe1602Leu) c.4489T>C (p.Phe1497Leu) c.2386T>C (p.Phe796Leu) c.4828T>C (p.Phe1610Leu) c.4819T>C (p.Phe1607Leu) c.4810T>C (p.Phe1604Leu) c.3148T>C (p.Phe1050Leu) | |
X | g.108694913T>G | CA414132606 | COL4A5 | c.4813T>G (p.Phe1605Val) c.4795T>G (p.Phe1599Val) n.1307T>G n.1299T>G c.211T>G (p.Phe71Val) c.325-1384T>G c.4804T>G (p.Phe1602Val) c.4489T>G (p.Phe1497Val) c.2386T>G (p.Phe796Val) c.4828T>G (p.Phe1610Val) c.4819T>G (p.Phe1607Val) c.4810T>G (p.Phe1604Val) c.3148T>G (p.Phe1050Val) | |
X | g.108694914_108694923dup | CA2695235250 | COL4A5 | c.4814_4821+2dup c.4796_4803+2dup n.1308_1315+2dup n.1300_1309dup c.212_219+2dup c.325-1383_325-1374dup c.4805_4812+2dup c.4490_4497+2dup c.2387_2394+2dup c.4829_4836+2dup c.4820_4827+2dup c.4811_4818+2dup c.3149_3156+2dup | |
X | g.108694914T>A | CA414132609 | COL4A5 | c.4814T>A (p.Phe1605Tyr) c.4796T>A (p.Phe1599Tyr) n.1308T>A n.1300T>A c.212T>A (p.Phe71Tyr) c.325-1383T>A c.4805T>A (p.Phe1602Tyr) c.4490T>A (p.Phe1497Tyr) c.2387T>A (p.Phe796Tyr) c.4829T>A (p.Phe1610Tyr) c.4820T>A (p.Phe1607Tyr) c.4811T>A (p.Phe1604Tyr) c.3149T>A (p.Phe1050Tyr) | |
X | g.108694914T>C | CA414132607 | COL4A5 | c.4814T>C (p.Phe1605Ser) c.4796T>C (p.Phe1599Ser) n.1308T>C n.1300T>C c.212T>C (p.Phe71Ser) c.325-1383T>C c.4805T>C (p.Phe1602Ser) c.4490T>C (p.Phe1497Ser) c.2387T>C (p.Phe796Ser) c.4829T>C (p.Phe1610Ser) c.4820T>C (p.Phe1607Ser) c.4811T>C (p.Phe1604Ser) c.3149T>C (p.Phe1050Ser) | |
X | g.108694914T>G | CA414132608 | COL4A5 | c.4814T>G (p.Phe1605Cys) c.4796T>G (p.Phe1599Cys) n.1308T>G n.1300T>G c.212T>G (p.Phe71Cys) c.325-1383T>G c.4805T>G (p.Phe1602Cys) c.4490T>G (p.Phe1497Cys) c.2387T>G (p.Phe796Cys) c.4829T>G (p.Phe1610Cys) c.4820T>G (p.Phe1607Cys) c.4811T>G (p.Phe1604Cys) c.3149T>G (p.Phe1050Cys) | |
X | g.108694915C>A | CA414132610 | COL4A5 | c.4815C>A (p.Phe1605Leu) c.4797C>A (p.Phe1599Leu) n.1309C>A n.1301C>A c.213C>A (p.Phe71Leu) c.325-1382C>A c.4806C>A (p.Phe1602Leu) c.4491C>A (p.Phe1497Leu) c.2388C>A (p.Phe796Leu) c.4830C>A (p.Phe1610Leu) c.4821C>A (p.Phe1607Leu) c.4812C>A (p.Phe1604Leu) c.3150C>A (p.Phe1050Leu) | gnomAD v4 |
X | g.108694915C>G | CA414132611 | COL4A5 | c.4815C>G (p.Phe1605Leu) c.4797C>G (p.Phe1599Leu) n.1309C>G n.1301C>G c.213C>G (p.Phe71Leu) c.325-1382C>G c.4806C>G (p.Phe1602Leu) c.4491C>G (p.Phe1497Leu) c.2388C>G (p.Phe796Leu) c.4830C>G (p.Phe1610Leu) c.4821C>G (p.Phe1607Leu) c.4812C>G (p.Phe1604Leu) c.3150C>G (p.Phe1050Leu) | |
X | g.108694915C>T | CA517925983 | COL4A5 | c.4815C>T (p.Phe1605=) c.4797C>T (p.Phe1599=) n.1309C>T n.1301C>T c.213C>T (p.Phe71=) c.325-1382C>T c.4806C>T (p.Phe1602=) c.4491C>T (p.Phe1497=) c.2388C>T (p.Phe796=) c.4830C>T (p.Phe1610=) c.4821C>T (p.Phe1607=) c.4812C>T (p.Phe1604=) c.3150C>T (p.Phe1050=) | gnomAD v4 |
X | g.108694916A= | CA2450721612 | COL4A5 | c.4816A= (p.Met1606=) c.4798A= (p.Met1600=) n.1310A= n.1302A= c.214A= (p.Met72=) c.325-1381A= c.4807A= (p.Met1603=) c.4492A= (p.Met1498=) c.2389A= (p.Met797=) c.4831A= (p.Met1611=) c.4822A= (p.Met1608=) c.4813A= (p.Met1605=) c.3151A= (p.Met1051=) | |
X | g.108694916A>C | CA414132612 | COL4A5 | c.4816A>C (p.Met1606Leu) c.4798A>C (p.Met1600Leu) n.1310A>C n.1302A>C c.214A>C (p.Met72Leu) c.325-1381A>C c.4807A>C (p.Met1603Leu) c.4492A>C (p.Met1498Leu) c.2389A>C (p.Met797Leu) c.4831A>C (p.Met1611Leu) c.4822A>C (p.Met1608Leu) c.4813A>C (p.Met1605Leu) c.3151A>C (p.Met1051Leu) | gnomAD v3 gnomAD v4 |
X | g.108694916A>G | CA10489422 | COL4A5 | c.4816A>G (p.Met1606Val) c.4798A>G (p.Met1600Val) n.1310A>G n.1302A>G c.214A>G (p.Met72Val) c.325-1381A>G c.4807A>G (p.Met1603Val) c.4492A>G (p.Met1498Val) c.2389A>G (p.Met797Val) c.4831A>G (p.Met1611Val) c.4822A>G (p.Met1608Val) c.4813A>G (p.Met1605Val) c.3151A>G (p.Met1051Val) | dbSNP ExAC gnomAD v4 |
X | g.108694916A>T | CA414132613 | COL4A5 | c.4816A>T (p.Met1606Leu) c.4798A>T (p.Met1600Leu) n.1310A>T n.1302A>T c.214A>T (p.Met72Leu) c.325-1381A>T c.4807A>T (p.Met1603Leu) c.4492A>T (p.Met1498Leu) c.2389A>T (p.Met797Leu) c.4831A>T (p.Met1611Leu) c.4822A>T (p.Met1608Leu) c.4813A>T (p.Met1605Leu) c.3151A>T (p.Met1051Leu) | gnomAD v3 gnomAD v4 |
X | g.108694917T>A | CA414132614 | COL4A5 | c.4817T>A (p.Met1606Lys) c.4799T>A (p.Met1600Lys) n.1311T>A n.1303T>A c.215T>A (p.Met72Lys) c.325-1380T>A c.4808T>A (p.Met1603Lys) c.4493T>A (p.Met1498Lys) c.2390T>A (p.Met797Lys) c.4832T>A (p.Met1611Lys) c.4823T>A (p.Met1608Lys) c.4814T>A (p.Met1605Lys) c.3152T>A (p.Met1051Lys) | |
X | g.108694917T>C | CA414132616 | COL4A5 | c.4817T>C (p.Met1606Thr) c.4799T>C (p.Met1600Thr) n.1311T>C n.1303T>C c.215T>C (p.Met72Thr) c.325-1380T>C c.4808T>C (p.Met1603Thr) c.4493T>C (p.Met1498Thr) c.2390T>C (p.Met797Thr) c.4832T>C (p.Met1611Thr) c.4823T>C (p.Met1608Thr) c.4814T>C (p.Met1605Thr) c.3152T>C (p.Met1051Thr) | |
X | g.108694917T>G | CA414132615 | COL4A5 | c.4817T>G (p.Met1606Arg) c.4799T>G (p.Met1600Arg) n.1311T>G n.1303T>G c.215T>G (p.Met72Arg) c.325-1380T>G c.4808T>G (p.Met1603Arg) c.4493T>G (p.Met1498Arg) c.2390T>G (p.Met797Arg) c.4832T>G (p.Met1611Arg) c.4823T>G (p.Met1608Arg) c.4814T>G (p.Met1605Arg) c.3152T>G (p.Met1051Arg) | |
X | g.108694918G>A | CA414132617 | COL4A5 | c.4818G>A (p.Met1606Ile) c.4800G>A (p.Met1600Ile) n.1312G>A n.1304G>A c.216G>A (p.Met72Ile) c.325-1379G>A c.4809G>A (p.Met1603Ile) c.4494G>A (p.Met1498Ile) c.2391G>A (p.Met797Ile) c.4833G>A (p.Met1611Ile) c.4824G>A (p.Met1608Ile) c.4815G>A (p.Met1605Ile) c.3153G>A (p.Met1051Ile) | |
X | g.108694918G>C | CA414132618 | COL4A5 | c.4818G>C (p.Met1606Ile) c.4800G>C (p.Met1600Ile) n.1312G>C n.1304G>C c.216G>C (p.Met72Ile) c.325-1379G>C c.4809G>C (p.Met1603Ile) c.4494G>C (p.Met1498Ile) c.2391G>C (p.Met797Ile) c.4833G>C (p.Met1611Ile) c.4824G>C (p.Met1608Ile) c.4815G>C (p.Met1605Ile) c.3153G>C (p.Met1051Ile) | |
X | g.108694918G>T | CA414132619 | COL4A5 | c.4818G>T (p.Met1606Ile) c.4800G>T (p.Met1600Ile) n.1312G>T n.1304G>T c.216G>T (p.Met72Ile) c.325-1379G>T c.4809G>T (p.Met1603Ile) c.4494G>T (p.Met1498Ile) c.2391G>T (p.Met797Ile) c.4833G>T (p.Met1611Ile) c.4824G>T (p.Met1608Ile) c.4815G>T (p.Met1605Ile) c.3153G>T (p.Met1051Ile) | |
X | g.108694919A>C | CA414132620 | COL4A5 | c.4819A>C (p.Met1607Leu) c.4801A>C (p.Met1601Leu) n.1313A>C n.1305A>C c.217A>C (p.Met73Leu) c.325-1378A>C c.4810A>C (p.Met1604Leu) c.4495A>C (p.Met1499Leu) c.2392A>C (p.Met798Leu) c.4834A>C (p.Met1612Leu) c.4825A>C (p.Met1609Leu) c.4816A>C (p.Met1606Leu) c.3154A>C (p.Met1052Leu) | |
X | g.108694919A>G | CA414132621 | COL4A5 | c.4819A>G (p.Met1607Val) c.4801A>G (p.Met1601Val) n.1313A>G n.1305A>G c.217A>G (p.Met73Val) c.325-1378A>G c.4810A>G (p.Met1604Val) c.4495A>G (p.Met1499Val) c.2392A>G (p.Met798Val) c.4834A>G (p.Met1612Val) c.4825A>G (p.Met1609Val) c.4816A>G (p.Met1606Val) c.3154A>G (p.Met1052Val) | gnomAD v4 |
X | g.108694919A>T | CA414132622 | COL4A5 | c.4819A>T (p.Met1607Leu) c.4801A>T (p.Met1601Leu) n.1313A>T n.1305A>T c.217A>T (p.Met73Leu) c.325-1378A>T c.4810A>T (p.Met1604Leu) c.4495A>T (p.Met1499Leu) c.2392A>T (p.Met798Leu) c.4834A>T (p.Met1612Leu) c.4825A>T (p.Met1609Leu) c.4816A>T (p.Met1606Leu) c.3154A>T (p.Met1052Leu) | |
X | g.108694920T>A | CA414132623 | COL4A5 | c.4820T>A (p.Met1607Lys) c.4802T>A (p.Met1601Lys) n.1314T>A n.1306T>A c.218T>A (p.Met73Lys) c.325-1377T>A c.4811T>A (p.Met1604Lys) c.4496T>A (p.Met1499Lys) c.2393T>A (p.Met798Lys) c.4835T>A (p.Met1612Lys) c.4826T>A (p.Met1609Lys) c.4817T>A (p.Met1606Lys) c.3155T>A (p.Met1052Lys) | |
X | g.108694920T>C | CA414132624 | COL4A5 | c.4820T>C (p.Met1607Thr) c.4802T>C (p.Met1601Thr) n.1314T>C n.1306T>C c.218T>C (p.Met73Thr) c.325-1377T>C c.4811T>C (p.Met1604Thr) c.4496T>C (p.Met1499Thr) c.2393T>C (p.Met798Thr) c.4835T>C (p.Met1612Thr) c.4826T>C (p.Met1609Thr) c.4817T>C (p.Met1606Thr) c.3155T>C (p.Met1052Thr) | |
X | g.108694920T>G | CA414132625 | COL4A5 | c.4820T>G (p.Met1607Arg) c.4802T>G (p.Met1601Arg) n.1314T>G n.1306T>G c.218T>G (p.Met73Arg) c.325-1377T>G c.4811T>G (p.Met1604Arg) c.4496T>G (p.Met1499Arg) c.2393T>G (p.Met798Arg) c.4835T>G (p.Met1612Arg) c.4826T>G (p.Met1609Arg) c.4817T>G (p.Met1606Arg) c.3155T>G (p.Met1052Arg) | |
X | g.108694921G>A | CA259123 | COL4A5 | c.4821G>A (p.Met1607Ile) c.4803G>A (p.Met1601Ile) n.1315G>A n.1307G>A c.219G>A (p.Met73Ile) c.325-1376G>A c.4812G>A (p.Met1604Ile) c.4497G>A (p.Met1499Ile) c.2394G>A (p.Met798Ile) c.4836G>A (p.Met1612Ile) c.4827G>A (p.Met1609Ile) c.4818G>A (p.Met1606Ile) c.3156G>A (p.Met1052Ile) | ClinVar dbSNP |
X | g.108694921G>C | CA414132626 | COL4A5 | c.4821G>C (p.Met1607Ile) c.4803G>C (p.Met1601Ile) n.1315G>C n.1307G>C c.219G>C (p.Met73Ile) c.325-1376G>C c.4812G>C (p.Met1604Ile) c.4497G>C (p.Met1499Ile) c.2394G>C (p.Met798Ile) c.4836G>C (p.Met1612Ile) c.4827G>C (p.Met1609Ile) c.4818G>C (p.Met1606Ile) c.3156G>C (p.Met1052Ile) | ClinVar dbSNP |
X | g.108694921G= | CA2450721613 | COL4A5 | c.4821G= (p.Met1607=) c.4803G= (p.Met1601=) n.1315G= n.1307G= c.219G= (p.Met73=) c.325-1376G= c.4812G= (p.Met1604=) c.4497G= (p.Met1499=) c.2394G= (p.Met798=) c.4836G= (p.Met1612=) c.4827G= (p.Met1609=) c.4818G= (p.Met1606=) c.3156G= (p.Met1052=) | |
X | g.108694921G>T | CA414132627 | COL4A5 | c.4821G>T (p.Met1607Ile) c.4803G>T (p.Met1601Ile) n.1315G>T n.1307G>T c.219G>T (p.Met73Ile) c.325-1376G>T c.4812G>T (p.Met1604Ile) c.4497G>T (p.Met1499Ile) c.2394G>T (p.Met798Ile) c.4836G>T (p.Met1612Ile) c.4827G>T (p.Met1609Ile) c.4818G>T (p.Met1606Ile) c.3156G>T (p.Met1052Ile) | COSMIC COSMIC |
X | g.108694922G>A | CA259126 | COL4A5 | c.4821+1G>A (n.4821+1G>A) c.4803+1G>A (n.4803+1G>A) n.1315+1G>A n.1308G>A c.219+1G>A (n.219+1G>A) c.325-1375G>A c.4812+1G>A (n.4812+1G>A) c.4497+1G>A (n.4497+1G>A) c.2394+1G>A (n.2394+1G>A) c.4836+1G>A (n.4836+1G>A) c.4827+1G>A (n.4827+1G>A) c.4818+1G>A (n.4818+1G>A) c.3156+1G>A (n.3156+1G>A) | ClinVar dbSNP |
X | g.108694922G>C | CA414132629 | COL4A5 | c.4821+1G>C (n.4821+1G>C) c.4803+1G>C (n.4803+1G>C) n.1315+1G>C n.1308G>C c.219+1G>C (n.219+1G>C) c.325-1375G>C c.4812+1G>C (n.4812+1G>C) c.4497+1G>C (n.4497+1G>C) c.2394+1G>C (n.2394+1G>C) c.4836+1G>C (n.4836+1G>C) c.4827+1G>C (n.4827+1G>C) c.4818+1G>C (n.4818+1G>C) c.3156+1G>C (n.3156+1G>C) | |
X | g.108694922G= | CA2450721614 | COL4A5 | c.4821+1G= (n.4821+1G=) c.4803+1G= (n.4803+1G=) n.1315+1G= n.1308G= c.219+1G= (n.219+1G=) c.325-1375G= c.4812+1G= (n.4812+1G=) c.4497+1G= (n.4497+1G=) c.2394+1G= (n.2394+1G=) c.4836+1G= (n.4836+1G=) c.4827+1G= (n.4827+1G=) c.4818+1G= (n.4818+1G=) c.3156+1G= (n.3156+1G=) | |
X | g.108694922G>T | CA414132628 | COL4A5 | c.4821+1G>T (n.4821+1G>T) c.4803+1G>T (n.4803+1G>T) n.1315+1G>T n.1308G>T c.219+1G>T (n.219+1G>T) c.325-1375G>T c.4812+1G>T (n.4812+1G>T) c.4497+1G>T (n.4497+1G>T) c.2394+1G>T (n.2394+1G>T) c.4836+1G>T (n.4836+1G>T) c.4827+1G>T (n.4827+1G>T) c.4818+1G>T (n.4818+1G>T) c.3156+1G>T (n.3156+1G>T) |