Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108694846_108694848delinsTCACA2450721583COL4A5c.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=)
Xg.108694847C>ACA414132462COL4A5c.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)
Xg.108694847C>GCA414132461COL4A5c.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
Xg.108694847C>TCA414132460COL4A5c.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)
Xg.108694849_108694850delCA915951315COL4A5c.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
Xg.108694848A>CCA414132463COL4A5c.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)
Xg.108694848A>GCA414132465COL4A5c.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)
Xg.108694848A>TCA414132464COL4A5c.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)
Xg.108694849C>ACA414132466COL4A5c.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)
Xg.108694849C>GCA414132467COL4A5c.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)
Xg.108694849C>TCA517925700COL4A5c.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=)
Xg.108694852_108694855delCA2695235247COL4A5c.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)
Xg.108694849_108694856delinsCAGTCAGACA2450721584COL4A5c.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=)
Xg.108694850A=CA2450721585COL4A5c.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=)
Xg.108694850A>CCA414132468COL4A5c.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)
Xg.108694850A>GCA414132469COL4A5c.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)
Xg.108694850A>TCA414132470COL4A5c.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
Xg.108694850_108694856delCA334062955COL4A5c.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
Xg.108694851G>ACA414132471COL4A5c.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)
Xg.108694851G>CCA414132472COL4A5c.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)
Xg.108694851G>TCA414132473COL4A5c.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)
Xg.108694852T>ACA414132474COL4A5c.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)
Xg.108694852T>CCA517925712COL4A5c.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=)
Xg.108694852T>GCA414132475COL4A5c.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)
Xg.108694852_108694853delinsACA2580100247COL4A5c.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
Xg.108694853C>ACA414132478COL4A5c.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)
Xg.108694853C>GCA414132477COL4A5c.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)
Xg.108694853C>TCA414132476COL4A5c.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)
Xg.108694854A=CA2450721586COL4A5c.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=)
Xg.108694854A>CCA414132479COL4A5c.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)
Xg.108694854A>GCA414132480COL4A5c.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)
Xg.108694854A>TCA414132481COL4A5c.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)
Xg.108694854_108694855insTCA891843696COL4A5c.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?)
Xg.108694855G>ACA517925728COL4A5c.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=)
Xg.108694855G>CCA414132482COL4A5c.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)
Xg.108694855G>TCA414132483COL4A5c.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)
Xg.108694856A>CCA414132484COL4A5c.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)
Xg.108694856A>GCA414132485COL4A5c.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
Xg.108694856A>TCA414132486COL4A5c.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)
Xg.108694857C>ACA414132487COL4A5c.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
Xg.108694857C=CA2450721587COL4A5c.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=)
Xg.108694857C>GCA10489417COL4A5c.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
Xg.108694857C>TCA10489418COL4A5c.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
Xg.108694858G>ACA10489419COL4A5c.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
Xg.108694858G>CCA517925738COL4A5c.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=)
Xg.108694858G=CA2450721588COL4A5c.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=)
Xg.108694858G>TCA517925735COL4A5c.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
Xg.108694859A>CCA414132490COL4A5c.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)
Xg.108694859A>GCA414132489COL4A5c.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)
Xg.108694859A>TCA414132488COL4A5c.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)
Xg.108694860T>ACA414132491COL4A5c.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)
Xg.108694860T>CCA414132492COL4A5c.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)
Xg.108694860T>GCA414132493COL4A5c.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)
Xg.108694861C>ACA517925754COL4A5c.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=)
Xg.108694861C=CA2450721589COL4A5c.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=)
Xg.108694861C>GCA414132494COL4A5c.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)
Xg.108694861C>TCA10489420COL4A5c.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
Xg.108694862C>ACA414132497COL4A5c.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)
Xg.108694862C>GCA414132496COL4A5c.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)
Xg.108694862C>TCA414132495COL4A5c.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
Xg.108694862_108694863delinsCACA2450721590COL4A5c.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=)
Xg.108694863delCA10654932COL4A5c.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
Xg.108694863A>CCA414132498COL4A5c.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)
Xg.108694863A>GCA414132499COL4A5c.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)
Xg.108694863A>TCA414132500COL4A5c.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)
Xg.108694864G>ACA517925781COL4A5c.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=)
Xg.108694864G>CCA414132501COL4A5c.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
Xg.108694864G>TCA414132502COL4A5c.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)
Xg.108694864_108694871delinsGATTCCCCCA2450721591COL4A5c.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=)
Xg.108694865A=CA2450721592COL4A5c.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=)
Xg.108694865A>CCA414132503COL4A5c.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
Xg.108694865A>GCA414132505COL4A5c.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)
Xg.108694865A>TCA414132504COL4A5c.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)
Xg.108694868_108694874delCA259098COL4A5c.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
Xg.108694866T>ACA414132506COL4A5c.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)
Xg.108694866T>CCA414132507COL4A5c.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)
Xg.108694866T>GCA414132508COL4A5c.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)
Xg.108694867dupCA891843697COL4A5c.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?)
Xg.108694867T>ACA517925784COL4A5c.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
Xg.108694867T>CCA517925787COL4A5c.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
Xg.108694867T>GCA414132509COL4A5c.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
Xg.108694868C>ACA414132510COL4A5c.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)
Xg.108694868C>GCA414132511COL4A5c.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)
Xg.108694868C>TCA414132512COL4A5c.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)
Xg.108694869C>ACA414132513COL4A5c.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
Xg.108694869C=CA2450721593COL4A5c.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=)
Xg.108694869C>GCA414132514COL4A5c.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)
Xg.108694869C>TCA259099COL4A5c.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
Xg.108694870C>ACA517925797COL4A5c.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=)
Xg.108694870C>GCA517925799COL4A5c.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=)
Xg.108694870C>TCA517925800COL4A5c.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=)
Xg.108694871C>ACA414132517COL4A5c.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)
Xg.108694871C>GCA414132516COL4A5c.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)
Xg.108694871C>TCA414132515COL4A5c.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
Xg.108694872delCA2579992072COL4A5c.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)
Xg.108694872A=CA2450721594COL4A5c.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=)
Xg.108694872A>CCA414132518COL4A5c.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)
Xg.108694872A>GCA414132520COL4A5c.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
Xg.108694872A>TCA414132519COL4A5c.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)
Xg.108694873T>ACA414132521COL4A5c.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)
Xg.108694873T>CCA517925813COL4A5c.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
Xg.108694873T>GCA414132522COL4A5c.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)
Xg.108694873T=CA2450721595COL4A5c.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=)
Xg.108694874T>ACA414132523COL4A5c.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)
Xg.108694874T>CCA259103COL4A5c.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
Xg.108694874T>GCA414132524COL4A5c.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)
Xg.108694874T=CA2450721596COL4A5c.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=)
Xg.108694875G>ACA414132525COL4A5c.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)
Xg.108694875G>CCA414132526COL4A5c.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)
Xg.108694875G=CA2450721597COL4A5c.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=)
Xg.108694875G>TCA259106COL4A5c.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
Xg.108694876T>ACA414132528COL4A5c.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)
Xg.108694876T>CCA517925822COL4A5c.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=)
Xg.108694876T>GCA414132527COL4A5c.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)
Xg.108694877C>ACA414132529COL4A5c.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)
Xg.108694877C>GCA414132530COL4A5c.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)
Xg.108694877C>TCA414132531COL4A5c.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
Xg.108694878C>ACA414132532COL4A5c.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)
Xg.108694878C>GCA414132533COL4A5c.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)
Xg.108694878C>TCA414132534COL4A5c.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
Xg.108694879T>ACA517925837COL4A5c.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=)
Xg.108694879T>CCA517925841COL4A5c.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=)
Xg.108694879T>GCA517925839COL4A5c.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=)
Xg.108694880C>ACA414132535COL4A5c.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)
Xg.108694880C=CA2450721598COL4A5c.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=)
Xg.108694880C>GCA414132537COL4A5c.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
Xg.108694880C>TCA414132536COL4A5c.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
Xg.108694881A>CCA414132538COL4A5c.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)
Xg.108694881A>GCA414132539COL4A5c.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)
Xg.108694881A>TCA414132540COL4A5c.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)
Xg.108694882G>ACA517925851COL4A5c.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=)
Xg.108694882G>CCA414132541COL4A5c.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)
Xg.108694882G>TCA414132542COL4A5c.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)
Xg.108694883G>ACA414132543COL4A5c.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)
Xg.108694883G>CCA414132544COL4A5c.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)
Xg.108694883G>TCA414132545COL4A5c.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
Xg.108694884G>ACA414132546COL4A5c.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)
Xg.108694884G>CCA414132547COL4A5c.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)
Xg.108694884G=CA2450721599COL4A5c.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=)
Xg.108694884G>TCA259109COL4A5c.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
Xg.108694885A>CCA517925859COL4A5c.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=)
Xg.108694885A>GCA517925860COL4A5c.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=)
Xg.108694885A>TCA517925861COL4A5c.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=)
Xg.108694886T>ACA414132548COL4A5c.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)
Xg.108694886T>CCA414132549COL4A5c.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)
Xg.108694886T>GCA259112COL4A5c.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
Xg.108694886T=CA2450721600COL4A5c.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=)
Xg.108694886_108694887delinsTGCA2450721601COL4A5c.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=)
Xg.108694887G>ACA414132550COL4A5c.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
Xg.108694887G>CCA414132551COL4A5c.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)
Xg.108694887G>TCA414132552COL4A5c.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)
Xg.108694889delCA658824369COL4A5c.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
Xg.108694888G>ACA414132553COL4A5c.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
Xg.108694888G>CCA414132554COL4A5c.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)
Xg.108694888G>TCA414132555COL4A5c.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)
Xg.108694889G>ACA414132556COL4A5c.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
Xg.108694889G>CCA414132557COL4A5c.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)
Xg.108694889G>TCA414132558COL4A5c.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)
Xg.108694890A>CCA414132559COL4A5c.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)
Xg.108694890A>GCA414132560COL4A5c.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)
Xg.108694890A>TCA414132561COL4A5c.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)
Xg.108694891T>ACA414132563COL4A5c.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)
Xg.108694891T>CCA517925886COL4A5c.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=)
Xg.108694891T>GCA414132562COL4A5c.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)
Xg.108694892T>ACA414132564COL4A5c.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)
Xg.108694892T>CCA414132565COL4A5c.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)
Xg.108694892T>GCA414132566COL4A5c.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)
Xg.108694895_108694896delCA2579677299COL4A5c.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?)
Xg.108694893C>ACA10489421COL4A5c.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
Xg.108694893C=CA2450721602COL4A5c.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=)
Xg.108694893C>GCA414132567COL4A5c.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)
Xg.108694893C>TCA414132568COL4A5c.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)
Xg.108694894T>ACA517925898COL4A5c.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=)
Xg.108694894T>CCA517925902COL4A5c.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=)
Xg.108694894T>GCA517925894COL4A5c.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=)
Xg.108694895C>ACA414132569COL4A5c.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)
Xg.108694895C>GCA414132570COL4A5c.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)
Xg.108694895C>TCA517925904COL4A5c.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=)
Xg.108694895_108694897delinsCTGCA2450721603COL4A5c.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=)
Xg.108694896T>ACA414132571COL4A5c.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)
Xg.108694896T>CCA414132572COL4A5c.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)
Xg.108694896T>GCA414132573COL4A5c.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)
Xg.108694898_108694899delCA261105COL4A5c.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
Xg.108694897G>ACA517925913COL4A5c.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=)
Xg.108694897G>CCA517925917COL4A5c.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=)
Xg.108694897G>TCA517925921COL4A5c.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=)
Xg.108694898T>ACA414132575COL4A5c.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)
Xg.108694898T>CCA414132576COL4A5c.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)
Xg.108694898T>GCA414132574COL4A5c.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)
Xg.108694899G>ACA414132579COL4A5c.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)
Xg.108694899G>CCA414132577COL4A5c.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)
Xg.108694899G>TCA414132578COL4A5c.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)
Xg.108694900G>ACA414132580COL4A5c.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)
Xg.108694900G>CCA414132581COL4A5c.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)
Xg.108694900G=CA2450721604COL4A5c.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=)
Xg.108694900G>TCA414132582COL4A5c.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)
Xg.108694901A>CCA414132583COL4A5c.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)
Xg.108694901A>GCA414132584COL4A5c.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)
Xg.108694901A>TCA414132585COL4A5c.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)
Xg.108694902T>ACA414132586COL4A5c.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)
Xg.108694902T>CCA334063037COL4A5c.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
Xg.108694902T>GCA414132587COL4A5c.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)
Xg.108694902T=CA2450721605COL4A5c.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=)
Xg.108694903T>ACA517925940COL4A5c.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=)
Xg.108694903T>CCA517925942COL4A5c.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=)
Xg.108694903T>GCA414132588COL4A5c.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)
Xg.108694904G>ACA334063046COL4A5c.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
Xg.108694904G>CCA414132589COL4A5c.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)
Xg.108694904G=CA2450721606COL4A5c.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=)
Xg.108694904G>TCA414132590COL4A5c.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)
Xg.108694905G>ACA259115COL4A5c.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
Xg.108694905G>CCA414132591COL4A5c.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)
Xg.108694905G=CA2450721607COL4A5c.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=)
Xg.108694905G>TCA414132592COL4A5c.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)
Xg.108694906T>ACA517925952COL4A5c.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=)
Xg.108694906T>CCA517925959COL4A5c.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=)
Xg.108694906T>GCA517925957COL4A5c.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=)
Xg.108694907T>ACA414132593COL4A5c.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)
Xg.108694907T>CCA334063056COL4A5c.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
Xg.108694907T>GCA414132594COL4A5c.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)
Xg.108694907T=CA2450721608COL4A5c.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=)
Xg.108694908A=CA2450721609COL4A5c.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=)
Xg.108694908A>CCA414132595COL4A5c.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)
Xg.108694908A>GCA259117COL4A5c.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
Xg.108694908A>TCA414132596COL4A5c.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)
Xg.108694908dupCA2695235248COL4A5c.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)
Xg.108694909T>ACA259120COL4A5c.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
Xg.108694909T>CCA517925969COL4A5c.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
Xg.108694909T>GCA414132597COL4A5c.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
Xg.108694909T=CA2450721610COL4A5c.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=)
Xg.108694910T>ACA414132599COL4A5c.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)
Xg.108694910T>CCA414132600COL4A5c.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)
Xg.108694910T>GCA414132598COL4A5c.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)
Xg.108694911C>ACA414132601COL4A5c.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
Xg.108694911C=CA2450721611COL4A5c.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=)
Xg.108694911C>GCA414132602COL4A5c.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)
Xg.108694911C>TCA414132603COL4A5c.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
Xg.108694911_108694916delinsTTCA2695235249COL4A5c.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)
Xg.108694912C>ACA517925975COL4A5c.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=)
Xg.108694912C>GCA517925976COL4A5c.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=)
Xg.108694912C>TCA517925977COL4A5c.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=)
Xg.108694913T>ACA414132604COL4A5c.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)
Xg.108694913T>CCA414132605COL4A5c.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)
Xg.108694913T>GCA414132606COL4A5c.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)
Xg.108694914_108694923dupCA2695235250COL4A5c.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
Xg.108694914T>ACA414132609COL4A5c.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)
Xg.108694914T>CCA414132607COL4A5c.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)
Xg.108694914T>GCA414132608COL4A5c.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)
Xg.108694915C>ACA414132610COL4A5c.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
Xg.108694915C>GCA414132611COL4A5c.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)
Xg.108694915C>TCA517925983COL4A5c.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
Xg.108694916A=CA2450721612COL4A5c.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=)
Xg.108694916A>CCA414132612COL4A5c.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
Xg.108694916A>GCA10489422COL4A5c.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
Xg.108694916A>TCA414132613COL4A5c.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
Xg.108694917T>ACA414132614COL4A5c.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)
Xg.108694917T>CCA414132616COL4A5c.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)
Xg.108694917T>GCA414132615COL4A5c.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)
Xg.108694918G>ACA414132617COL4A5c.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)
Xg.108694918G>CCA414132618COL4A5c.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)
Xg.108694918G>TCA414132619COL4A5c.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)
Xg.108694919A>CCA414132620COL4A5c.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)
Xg.108694919A>GCA414132621COL4A5c.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
Xg.108694919A>TCA414132622COL4A5c.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)
Xg.108694920T>ACA414132623COL4A5c.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)
Xg.108694920T>CCA414132624COL4A5c.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)
Xg.108694920T>GCA414132625COL4A5c.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)
Xg.108694921G>ACA259123COL4A5c.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
Xg.108694921G>CCA414132626COL4A5c.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
Xg.108694921G=CA2450721613COL4A5c.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=)
Xg.108694921G>TCA414132627COL4A5c.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
Xg.108694922G>ACA259126COL4A5c.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
Xg.108694922G>CCA414132629COL4A5c.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)
Xg.108694922G=CA2450721614COL4A5c.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=)
Xg.108694922G>TCA414132628COL4A5c.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)
Xg.108694923T>ACA414132631COL4A5c.4821+2T>A (n.4821+2T>A)
c.4803+2T>A (n.4803+2T>A)
n.1315+2T>A
n.1309T>A
c.219+2T>A (n.219+2T>A)
c.325-1374T>A
c.4812+2T>A (n.4812+2T>A)
c.4497+2T>A (n.4497+2T>A)
c.2394+2T>A (n.2394+2T>A)
c.4836+2T>A (n.4836+2T>A)
c.4827+2T>A (n.4827+2T>A)
c.4818+2T>A (n.4818+2T>A)
c.3156+2T>A (n.3156+2T>A)
Xg.108694923T>CCA414132630COL4A5c.4821+2T>C (n.4821+2T>C)
c.4803+2T>C (n.4803+2T>C)
n.1315+2T>C
n.1309T>C
c.219+2T>C (n.219+2T>C)
c.325-1374T>C
c.4812+2T>C (n.4812+2T>C)
c.4497+2T>C (n.4497+2T>C)
c.2394+2T>C (n.2394+2T>C)
c.4836+2T>C (n.4836+2T>C)
c.4827+2T>C (n.4827+2T>C)
c.4818+2T>C (n.4818+2T>C)
c.3156+2T>C (n.3156+2T>C)
 ClinVar dbSNP
Xg.108694923T>GCA414132632COL4A5c.4821+2T>G (n.4821+2T>G)
c.4803+2T>G (n.4803+2T>G)
n.1315+2T>G
n.1309T>G
c.219+2T>G (n.219+2T>G)
c.325-1374T>G
c.4812+2T>G (n.4812+2T>G)
c.4497+2T>G (n.4497+2T>G)
c.2394+2T>G (n.2394+2T>G)
c.4836+2T>G (n.4836+2T>G)
c.4827+2T>G (n.4827+2T>G)
c.4818+2T>G (n.4818+2T>G)
c.3156+2T>G (n.3156+2T>G)
Xg.108694925_108694928delCA2570581994COL4A5c.4821+4_4821+7del (n.4821+4_4821+7del)
c.4803+4_4803+7del (n.4803+4_4803+7del)
n.1315+4_1315+7del
n.1311_1314del
c.219+4_219+7del (n.219+4_219+7del)
c.325-1372_325-1369del
c.4812+4_4812+7del (n.4812+4_4812+7del)
c.4497+4_4497+7del (n.4497+4_4497+7del)
c.2394+4_2394+7del (n.2394+4_2394+7del)
c.4836+4_4836+7del (n.4836+4_4836+7del)
c.4827+4_4827+7del (n.4827+4_4827+7del)
c.4818+4_4818+7del (n.4818+4_4818+7del)
c.3156+4_3156+7del (n.3156+4_3156+7del)
Xg.108694928delCA2694415466COL4A5c.4821+7del (n.4821+7del)
c.4803+7del (n.4803+7del)
n.1315+7del
n.1314del
c.219+7del (n.219+7del)
c.325-1369del
c.4812+7del (n.4812+7del)
c.4497+7del (n.4497+7del)
c.2394+7del (n.2394+7del)
c.4836+7del (n.4836+7del)
c.4827+7del (n.4827+7del)
c.4818+7del (n.4818+7del)
c.3156+7del (n.3156+7del)
 gnomAD v4
Xg.108694926T>CCA2694415467COL4A5c.4821+5T>C (n.4821+5T>C)
c.4803+5T>C (n.4803+5T>C)
n.1315+5T>C
n.1312T>C
c.219+5T>C (n.219+5T>C)
c.325-1371T>C
c.4812+5T>C (n.4812+5T>C)
c.4497+5T>C (n.4497+5T>C)
c.2394+5T>C (n.2394+5T>C)
c.4836+5T>C (n.4836+5T>C)
c.4827+5T>C (n.4827+5T>C)
c.4818+5T>C (n.4818+5T>C)
c.3156+5T>C (n.3156+5T>C)
 gnomAD v4
Xg.108694928T>CCA2694415468COL4A5c.4821+7T>C (n.4821+7T>C)
c.4803+7T>C (n.4803+7T>C)
n.1315+7T>C
n.1314T>C
c.219+7T>C (n.219+7T>C)
c.325-1369T>C
c.4812+7T>C (n.4812+7T>C)
c.4497+7T>C (n.4497+7T>C)
c.2394+7T>C (n.2394+7T>C)
c.4836+7T>C (n.4836+7T>C)
c.4827+7T>C (n.4827+7T>C)
c.4818+7T>C (n.4818+7T>C)
c.3156+7T>C (n.3156+7T>C)
 gnomAD v4
Xg.108694928_108694929insCGAACA2516571240COL4A5c.4821+7_4821+8insCGAA (n.4821+7_4821+8insCGAA)
c.4803+7_4803+8insCGAA (n.4803+7_4803+8insCGAA)
n.1315+7_1315+8insCGAA
n.1314_1315insCGAA
c.219+7_219+8insCGAA (n.219+7_219+8insCGAA)
c.325-1369_325-1368insCGAA
c.4812+7_4812+8insCGAA (n.4812+7_4812+8insCGAA)
c.4497+7_4497+8insCGAA (n.4497+7_4497+8insCGAA)
c.2394+7_2394+8insCGAA (n.2394+7_2394+8insCGAA)
c.4836+7_4836+8insCGAA (n.4836+7_4836+8insCGAA)
c.4827+7_4827+8insCGAA (n.4827+7_4827+8insCGAA)
c.4818+7_4818+8insCGAA (n.4818+7_4818+8insCGAA)
c.3156+7_3156+8insCGAA (n.3156+7_3156+8insCGAA)
Xg.108694929A>GCA2694415469COL4A5c.4821+8A>G (n.4821+8A>G)
c.4803+8A>G (n.4803+8A>G)
n.1315+8A>G
n.1315A>G
c.219+8A>G (n.219+8A>G)
c.325-1368A>G
c.4812+8A>G (n.4812+8A>G)
c.4497+8A>G (n.4497+8A>G)
c.2394+8A>G (n.2394+8A>G)
c.4836+8A>G (n.4836+8A>G)
c.4827+8A>G (n.4827+8A>G)
c.4818+8A>G (n.4818+8A>G)
c.3156+8A>G (n.3156+8A>G)
 gnomAD v4
Xg.108694929A>TCA2579677300COL4A5c.4821+8A>T (n.4821+8A>T)
c.4803+8A>T (n.4803+8A>T)
n.1315+8A>T
n.1315A>T
c.219+8A>T (n.219+8A>T)
c.325-1368A>T
c.4812+8A>T (n.4812+8A>T)
c.4497+8A>T (n.4497+8A>T)
c.2394+8A>T (n.2394+8A>T)
c.4836+8A>T (n.4836+8A>T)
c.4827+8A>T (n.4827+8A>T)
c.4818+8A>T (n.4818+8A>T)
c.3156+8A>T (n.3156+8A>T)
Xg.108694930C>ACA2579677301COL4A5c.4821+9C>A (n.4821+9C>A)
c.4803+9C>A (n.4803+9C>A)
n.1315+9C>A
n.1316C>A
c.219+9C>A (n.219+9C>A)
c.325-1367C>A
c.4812+9C>A (n.4812+9C>A)
c.4497+9C>A (n.4497+9C>A)
c.2394+9C>A (n.2394+9C>A)
c.4836+9C>A (n.4836+9C>A)
c.4827+9C>A (n.4827+9C>A)
c.4818+9C>A (n.4818+9C>A)
c.3156+9C>A (n.3156+9C>A)
 gnomAD v4
Xg.108694930C>TCA2822895491COL4A5c.4821+9C>T (n.4821+9C>T)
c.4803+9C>T (n.4803+9C>T)
n.1315+9C>T
n.1316C>T
c.219+9C>T (n.219+9C>T)
c.325-1367C>T
c.4812+9C>T (n.4812+9C>T)
c.4497+9C>T (n.4497+9C>T)
c.2394+9C>T (n.2394+9C>T)
c.4836+9C>T (n.4836+9C>T)
c.4827+9C>T (n.4827+9C>T)
c.4818+9C>T (n.4818+9C>T)
c.3156+9C>T (n.3156+9C>T)
Xg.108694932C>ACA2694415470COL4A5c.4821+11C>A (n.4821+11C>A)
c.4803+11C>A (n.4803+11C>A)
n.1315+11C>A
n.1318C>A
c.219+11C>A (n.219+11C>A)
c.325-1365C>A
c.4812+11C>A (n.4812+11C>A)
c.4497+11C>A (n.4497+11C>A)
c.2394+11C>A (n.2394+11C>A)
c.4836+11C>A (n.4836+11C>A)
c.4827+11C>A (n.4827+11C>A)
c.4818+11C>A (n.4818+11C>A)
c.3156+11C>A (n.3156+11C>A)
 gnomAD v4
Xg.108694932C=CA2450721615COL4A5c.4821+11C= (n.4821+11C=)
c.4803+11C= (n.4803+11C=)
n.1315+11C=
n.1318C=
c.219+11C= (n.219+11C=)
c.325-1365C=
c.4812+11C= (n.4812+11C=)
c.4497+11C= (n.4497+11C=)
c.2394+11C= (n.2394+11C=)
c.4836+11C= (n.4836+11C=)
c.4827+11C= (n.4827+11C=)
c.4818+11C= (n.4818+11C=)
c.3156+11C= (n.3156+11C=)
Xg.108694932C>TCA10489423COL4A5c.4821+11C>T (n.4821+11C>T)
c.4803+11C>T (n.4803+11C>T)
n.1315+11C>T
n.1318C>T
c.219+11C>T (n.219+11C>T)
c.325-1365C>T
c.4812+11C>T (n.4812+11C>T)
c.4497+11C>T (n.4497+11C>T)
c.2394+11C>T (n.2394+11C>T)
c.4836+11C>T (n.4836+11C>T)
c.4827+11C>T (n.4827+11C>T)
c.4818+11C>T (n.4818+11C>T)
c.3156+11C>T (n.3156+11C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108694933T>CCA2694415471COL4A5c.4821+12T>C (n.4821+12T>C)
c.4803+12T>C (n.4803+12T>C)
n.1315+12T>C
n.1319T>C
c.219+12T>C (n.219+12T>C)
c.325-1364T>C
c.4812+12T>C (n.4812+12T>C)
c.4497+12T>C (n.4497+12T>C)
c.2394+12T>C (n.2394+12T>C)
c.4836+12T>C (n.4836+12T>C)
c.4827+12T>C (n.4827+12T>C)
c.4818+12T>C (n.4818+12T>C)
c.3156+12T>C (n.3156+12T>C)
 gnomAD v4
Xg.108694934C>ACA2694415472COL4A5c.4821+13C>A (n.4821+13C>A)
c.4803+13C>A (n.4803+13C>A)
n.1315+13C>A
n.1320C>A
c.219+13C>A (n.219+13C>A)
c.325-1363C>A
c.4812+13C>A (n.4812+13C>A)
c.4497+13C>A (n.4497+13C>A)
c.2394+13C>A (n.2394+13C>A)
c.4836+13C>A (n.4836+13C>A)
c.4827+13C>A (n.4827+13C>A)
c.4818+13C>A (n.4818+13C>A)
c.3156+13C>A (n.3156+13C>A)
 gnomAD v4
Xg.108694934C=CA2450721616COL4A5c.4821+13C= (n.4821+13C=)
c.4803+13C= (n.4803+13C=)
n.1315+13C=
n.1320C=
c.219+13C= (n.219+13C=)
c.325-1363C=
c.4812+13C= (n.4812+13C=)
c.4497+13C= (n.4497+13C=)
c.2394+13C= (n.2394+13C=)
c.4836+13C= (n.4836+13C=)
c.4827+13C= (n.4827+13C=)
c.4818+13C= (n.4818+13C=)
c.3156+13C= (n.3156+13C=)
Xg.108694934C>TCA2450721617COL4A5c.4821+13C>T (n.4821+13C>T)
c.4803+13C>T (n.4803+13C>T)
n.1315+13C>T
n.1320C>T
c.219+13C>T (n.219+13C>T)
c.325-1363C>T
c.4812+13C>T (n.4812+13C>T)
c.4497+13C>T (n.4497+13C>T)
c.2394+13C>T (n.2394+13C>T)
c.4836+13C>T (n.4836+13C>T)
c.4827+13C>T (n.4827+13C>T)
c.4818+13C>T (n.4818+13C>T)
c.3156+13C>T (n.3156+13C>T)
 dbSNP
Xg.108694935T>ACA10489424COL4A5c.4821+14T>A (n.4821+14T>A)
c.4803+14T>A (n.4803+14T>A)
n.1315+14T>A
n.1321T>A
c.219+14T>A (n.219+14T>A)
c.325-1362T>A
c.4812+14T>A (n.4812+14T>A)
c.4497+14T>A (n.4497+14T>A)
c.2394+14T>A (n.2394+14T>A)
c.4836+14T>A (n.4836+14T>A)
c.4827+14T>A (n.4827+14T>A)
c.4818+14T>A (n.4818+14T>A)
c.3156+14T>A (n.3156+14T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108694935T>CCA869827622COL4A5c.4821+14T>C (n.4821+14T>C)
c.4803+14T>C (n.4803+14T>C)
n.1315+14T>C
n.1321T>C
c.219+14T>C (n.219+14T>C)
c.325-1362T>C
c.4812+14T>C (n.4812+14T>C)
c.4497+14T>C (n.4497+14T>C)
c.2394+14T>C (n.2394+14T>C)
c.4836+14T>C (n.4836+14T>C)
c.4827+14T>C (n.4827+14T>C)
c.4818+14T>C (n.4818+14T>C)
c.3156+14T>C (n.3156+14T>C)
 dbSNP
Xg.108694935T=CA2450721618COL4A5c.4821+14T= (n.4821+14T=)
c.4803+14T= (n.4803+14T=)
n.1315+14T=
n.1321T=
c.219+14T= (n.219+14T=)
c.325-1362T=
c.4812+14T= (n.4812+14T=)
c.4497+14T= (n.4497+14T=)
c.2394+14T= (n.2394+14T=)
c.4836+14T= (n.4836+14T=)
c.4827+14T= (n.4827+14T=)
c.4818+14T= (n.4818+14T=)
c.3156+14T= (n.3156+14T=)
Xg.108694937C>ACA2694415473COL4A5c.4821+16C>A (n.4821+16C>A)
c.4803+16C>A (n.4803+16C>A)
n.1315+16C>A
n.1323C>A
c.219+16C>A (n.219+16C>A)
c.325-1360C>A
c.4812+16C>A (n.4812+16C>A)
c.4497+16C>A (n.4497+16C>A)
c.2394+16C>A (n.2394+16C>A)
c.4836+16C>A (n.4836+16C>A)
c.4827+16C>A (n.4827+16C>A)
c.4818+16C>A (n.4818+16C>A)
c.3156+16C>A (n.3156+16C>A)
 gnomAD v4
Xg.108694942C>ACA2694415474COL4A5c.4821+21C>A (n.4821+21C>A)
c.4803+21C>A (n.4803+21C>A)
n.1315+21C>A
n.1328C>A
c.219+21C>A (n.219+21C>A)
c.325-1355C>A
c.4812+21C>A (n.4812+21C>A)
c.4497+21C>A (n.4497+21C>A)
c.2394+21C>A (n.2394+21C>A)
c.4836+21C>A (n.4836+21C>A)
c.4827+21C>A (n.4827+21C>A)
c.4818+21C>A (n.4818+21C>A)
c.3156+21C>A (n.3156+21C>A)
 gnomAD v4
Xg.108694942C>TCA2512590752COL4A5c.4821+21C>T (n.4821+21C>T)
c.4803+21C>T (n.4803+21C>T)
n.1315+21C>T
n.1328C>T
c.219+21C>T (n.219+21C>T)
c.325-1355C>T
c.4812+21C>T (n.4812+21C>T)
c.4497+21C>T (n.4497+21C>T)
c.2394+21C>T (n.2394+21C>T)
c.4836+21C>T (n.4836+21C>T)
c.4827+21C>T (n.4827+21C>T)
c.4818+21C>T (n.4818+21C>T)
c.3156+21C>T (n.3156+21C>T)
Xg.108694943A>CCA2555991680COL4A5c.4821+22A>C (n.4821+22A>C)
c.4803+22A>C (n.4803+22A>C)
n.1315+22A>C
n.1329A>C
c.219+22A>C (n.219+22A>C)
c.325-1354A>C
c.4812+22A>C (n.4812+22A>C)
c.4497+22A>C (n.4497+22A>C)
c.2394+22A>C (n.2394+22A>C)
c.4836+22A>C (n.4836+22A>C)
c.4827+22A>C (n.4827+22A>C)
c.4818+22A>C (n.4818+22A>C)
c.3156+22A>C (n.3156+22A>C)
 gnomAD v4
Xg.108694947G>ACA334063097COL4A5c.4821+26G>A (n.4821+26G>A)
c.4803+26G>A (n.4803+26G>A)
n.1315+26G>A
n.1333G>A
c.219+26G>A (n.219+26G>A)
c.325-1350G>A
c.4812+26G>A (n.4812+26G>A)
c.4497+26G>A (n.4497+26G>A)
c.2394+26G>A (n.2394+26G>A)
c.4836+26G>A (n.4836+26G>A)
c.4827+26G>A (n.4827+26G>A)
c.4818+26G>A (n.4818+26G>A)
c.3156+26G>A (n.3156+26G>A)
 dbSNP gnomAD v4
Xg.108694947G=CA2450721619COL4A5c.4821+26G= (n.4821+26G=)
c.4803+26G= (n.4803+26G=)
n.1315+26G=
n.1333G=
c.219+26G= (n.219+26G=)
c.325-1350G=
c.4812+26G= (n.4812+26G=)
c.4497+26G= (n.4497+26G=)
c.2394+26G= (n.2394+26G=)
c.4836+26G= (n.4836+26G=)
c.4827+26G= (n.4827+26G=)
c.4818+26G= (n.4818+26G=)
c.3156+26G= (n.3156+26G=)

Number of alleles fetched