Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108687484_108687501dupCA2580100163COL4A5c.4318_4335dup
c.4300_4317dup
n.812_829dup
c.114_131dup
c.4309_4326dup
c.3994_4011dup
c.1891_1908dup
c.4333_4350dup
c.4324_4341dup
c.4315_4332dup
c.2653_2670dup
 ClinVar
Xg.108687483T>ACA517924384COL4A5c.4317T>A (p.Gly1439=)
c.4299T>A (p.Gly1433=)
n.811T>A
n.720T>A
c.113T>A
c.4308T>A (p.Gly1436=)
c.3993T>A (p.Gly1331=)
c.1890T>A (p.Gly630=)
c.4332T>A (p.Gly1444=)
c.4323T>A (p.Gly1441=)
c.4314T>A (p.Gly1438=)
c.2652T>A (p.Gly884=)
Xg.108687483T>CCA517924386COL4A5c.4317T>C (p.Gly1439=)
c.4299T>C (p.Gly1433=)
n.811T>C
n.720T>C
c.113T>C
c.4308T>C (p.Gly1436=)
c.3993T>C (p.Gly1331=)
c.1890T>C (p.Gly630=)
c.4332T>C (p.Gly1444=)
c.4323T>C (p.Gly1441=)
c.4314T>C (p.Gly1438=)
c.2652T>C (p.Gly884=)
Xg.108687483T>GCA517924388COL4A5c.4317T>G (p.Gly1439=)
c.4299T>G (p.Gly1433=)
n.811T>G
n.720T>G
c.113T>G
c.4308T>G (p.Gly1436=)
c.3993T>G (p.Gly1331=)
c.1890T>G (p.Gly630=)
c.4332T>G (p.Gly1444=)
c.4323T>G (p.Gly1441=)
c.4314T>G (p.Gly1438=)
c.2652T>G (p.Gly884=)
Xg.108687484A>CCA413853912COL4A5c.4318A>C (p.Thr1440Pro)
c.4300A>C (p.Thr1434Pro)
n.812A>C
n.721A>C
c.114A>C
c.4309A>C (p.Thr1437Pro)
c.3994A>C (p.Thr1332Pro)
c.1891A>C (p.Thr631Pro)
c.4333A>C (p.Thr1445Pro)
c.4324A>C (p.Thr1442Pro)
c.4315A>C (p.Thr1439Pro)
c.2653A>C (p.Thr885Pro)
Xg.108687484A>GCA413853913COL4A5c.4318A>G (p.Thr1440Ala)
c.4300A>G (p.Thr1434Ala)
n.812A>G
n.721A>G
c.114A>G
c.4309A>G (p.Thr1437Ala)
c.3994A>G (p.Thr1332Ala)
c.1891A>G (p.Thr631Ala)
c.4333A>G (p.Thr1445Ala)
c.4324A>G (p.Thr1442Ala)
c.4315A>G (p.Thr1439Ala)
c.2653A>G (p.Thr885Ala)
Xg.108687484A>TCA413853915COL4A5c.4318A>T (p.Thr1440Ser)
c.4300A>T (p.Thr1434Ser)
n.812A>T
n.721A>T
c.114A>T
c.4309A>T (p.Thr1437Ser)
c.3994A>T (p.Thr1332Ser)
c.1891A>T (p.Thr631Ser)
c.4333A>T (p.Thr1445Ser)
c.4324A>T (p.Thr1442Ser)
c.4315A>T (p.Thr1439Ser)
c.2653A>T (p.Thr885Ser)
Xg.108687485C>ACA413853919COL4A5c.4319C>A (p.Thr1440Asn)
c.4301C>A (p.Thr1434Asn)
n.813C>A
n.722C>A
c.115C>A
c.4310C>A (p.Thr1437Asn)
c.3995C>A (p.Thr1332Asn)
c.1892C>A (p.Thr631Asn)
c.4334C>A (p.Thr1445Asn)
c.4325C>A (p.Thr1442Asn)
c.4316C>A (p.Thr1439Asn)
c.2654C>A (p.Thr885Asn)
Xg.108687485C=CA2450719200COL4A5c.4319C= (p.Thr1440=)
c.4301C= (p.Thr1434=)
n.813C=
n.722C=
c.115C=
c.4310C= (p.Thr1437=)
c.3995C= (p.Thr1332=)
c.1892C= (p.Thr631=)
c.4334C= (p.Thr1445=)
c.4325C= (p.Thr1442=)
c.4316C= (p.Thr1439=)
c.2654C= (p.Thr885=)
Xg.108687485C>GCA413853920COL4A5c.4319C>G (p.Thr1440Ser)
c.4301C>G (p.Thr1434Ser)
n.813C>G
n.722C>G
c.115C>G
c.4310C>G (p.Thr1437Ser)
c.3995C>G (p.Thr1332Ser)
c.1892C>G (p.Thr631Ser)
c.4334C>G (p.Thr1445Ser)
c.4325C>G (p.Thr1442Ser)
c.4316C>G (p.Thr1439Ser)
c.2654C>G (p.Thr885Ser)
Xg.108687485C>TCA413853918COL4A5c.4319C>T (p.Thr1440Ile)
c.4301C>T (p.Thr1434Ile)
n.813C>T
n.722C>T
c.115C>T
c.4310C>T (p.Thr1437Ile)
c.3995C>T (p.Thr1332Ile)
c.1892C>T (p.Thr631Ile)
c.4334C>T (p.Thr1445Ile)
c.4325C>T (p.Thr1442Ile)
c.4316C>T (p.Thr1439Ile)
c.2654C>T (p.Thr885Ile)
 dbSNP
Xg.108687486C>ACA517924389COL4A5c.4320C>A (p.Thr1440=)
c.4302C>A (p.Thr1434=)
n.814C>A
n.723C>A
c.116C>A
c.4311C>A (p.Thr1437=)
c.3996C>A (p.Thr1332=)
c.1893C>A (p.Thr631=)
c.4335C>A (p.Thr1445=)
c.4326C>A (p.Thr1442=)
c.4317C>A (p.Thr1439=)
c.2655C>A (p.Thr885=)
Xg.108687486C>GCA517924393COL4A5c.4320C>G (p.Thr1440=)
c.4302C>G (p.Thr1434=)
n.814C>G
n.723C>G
c.116C>G
c.4311C>G (p.Thr1437=)
c.3996C>G (p.Thr1332=)
c.1893C>G (p.Thr631=)
c.4335C>G (p.Thr1445=)
c.4326C>G (p.Thr1442=)
c.4317C>G (p.Thr1439=)
c.2655C>G (p.Thr885=)
Xg.108687486C>TCA517924391COL4A5c.4320C>T (p.Thr1440=)
c.4302C>T (p.Thr1434=)
n.814C>T
n.723C>T
c.116C>T
c.4311C>T (p.Thr1437=)
c.3996C>T (p.Thr1332=)
c.1893C>T (p.Thr631=)
c.4335C>T (p.Thr1445=)
c.4326C>T (p.Thr1442=)
c.4317C>T (p.Thr1439=)
c.2655C>T (p.Thr885=)
Xg.108687487C>ACA413853923COL4A5c.4321C>A (p.Arg1441Ser)
c.4303C>A (p.Arg1435Ser)
n.815C>A
n.724C>A
c.117C>A
c.4312C>A (p.Arg1438Ser)
c.3997C>A (p.Arg1333Ser)
c.1894C>A (p.Arg632Ser)
c.4336C>A (p.Arg1446Ser)
c.4327C>A (p.Arg1443Ser)
c.4318C>A (p.Arg1440Ser)
c.2656C>A (p.Arg886Ser)
Xg.108687487C=CA2450719201COL4A5c.4321C= (p.Arg1441=)
c.4303C= (p.Arg1435=)
n.815C=
n.724C=
c.117C=
c.4312C= (p.Arg1438=)
c.3997C= (p.Arg1333=)
c.1894C= (p.Arg632=)
c.4336C= (p.Arg1446=)
c.4327C= (p.Arg1443=)
c.4318C= (p.Arg1440=)
c.2656C= (p.Arg886=)
Xg.108687487C>GCA413853925COL4A5c.4321C>G (p.Arg1441Gly)
c.4303C>G (p.Arg1435Gly)
n.815C>G
n.724C>G
c.117C>G
c.4312C>G (p.Arg1438Gly)
c.3997C>G (p.Arg1333Gly)
c.1894C>G (p.Arg632Gly)
c.4336C>G (p.Arg1446Gly)
c.4327C>G (p.Arg1443Gly)
c.4318C>G (p.Arg1440Gly)
c.2656C>G (p.Arg886Gly)
Xg.108687487C>TCA413853926COL4A5c.4321C>T (p.Arg1441Cys)
c.4303C>T (p.Arg1435Cys)
n.815C>T
n.724C>T
c.117C>T
c.4312C>T (p.Arg1438Cys)
c.3997C>T (p.Arg1333Cys)
c.1894C>T (p.Arg632Cys)
c.4336C>T (p.Arg1446Cys)
c.4327C>T (p.Arg1443Cys)
c.4318C>T (p.Arg1440Cys)
c.2656C>T (p.Arg886Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.108687488G>ACA413853929COL4A5c.4322G>A (p.Arg1441His)
c.4304G>A (p.Arg1435His)
n.816G>A
n.725G>A
c.118G>A
c.4313G>A (p.Arg1438His)
c.3998G>A (p.Arg1333His)
c.1895G>A (p.Arg632His)
c.4337G>A (p.Arg1446His)
c.4328G>A (p.Arg1443His)
c.4319G>A (p.Arg1440His)
c.2657G>A (p.Arg886His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.108687488G>CCA413853931COL4A5c.4322G>C (p.Arg1441Pro)
c.4304G>C (p.Arg1435Pro)
n.816G>C
n.725G>C
c.118G>C
c.4313G>C (p.Arg1438Pro)
c.3998G>C (p.Arg1333Pro)
c.1895G>C (p.Arg632Pro)
c.4337G>C (p.Arg1446Pro)
c.4328G>C (p.Arg1443Pro)
c.4319G>C (p.Arg1440Pro)
c.2657G>C (p.Arg886Pro)
Xg.108687488G=CA2450719204COL4A5c.4322G= (p.Arg1441=)
c.4304G= (p.Arg1435=)
n.816G=
n.725G=
c.118G=
c.4313G= (p.Arg1438=)
c.3998G= (p.Arg1333=)
c.1895G= (p.Arg632=)
c.4337G= (p.Arg1446=)
c.4328G= (p.Arg1443=)
c.4319G= (p.Arg1440=)
c.2657G= (p.Arg886=)
Xg.108687488G>TCA413853932COL4A5c.4322G>T (p.Arg1441Leu)
c.4304G>T (p.Arg1435Leu)
n.816G>T
n.725G>T
c.118G>T
c.4313G>T (p.Arg1438Leu)
c.3998G>T (p.Arg1333Leu)
c.1895G>T (p.Arg632Leu)
c.4337G>T (p.Arg1446Leu)
c.4328G>T (p.Arg1443Leu)
c.4319G>T (p.Arg1440Leu)
c.2657G>T (p.Arg886Leu)
Xg.108687488_108687515delinsGTGGTTTGGATGGTCCCCCTGGTCCAGACA2450719203COL4A5c.4322_4349delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA (p.Arg1441=)
c.4304_4331delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA (p.Arg1435=)
n.816_843delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA
c.118_145delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA
c.4313_4340delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA (p.Arg1438=)
c.3998_4025delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA (p.Arg1333=)
c.1895_1922delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA (p.Arg632=)
c.4337_4364delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA (p.Arg1446=)
c.4328_4355delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA (p.Arg1443=)
c.4319_4346delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA (p.Arg1440=)
c.2657_2684delinsGTGGTTTGGATGGTCCCCCTGGTCCAGA (p.Arg886=)
Xg.108687489T>ACA517924397COL4A5c.4323T>A (p.Arg1441=)
c.4305T>A (p.Arg1435=)
n.817T>A
n.726T>A
c.119T>A
c.4314T>A (p.Arg1438=)
c.3999T>A (p.Arg1333=)
c.1896T>A (p.Arg632=)
c.4338T>A (p.Arg1446=)
c.4329T>A (p.Arg1443=)
c.4320T>A (p.Arg1440=)
c.2658T>A (p.Arg886=)
Xg.108687489T>CCA517924398COL4A5c.4323T>C (p.Arg1441=)
c.4305T>C (p.Arg1435=)
n.817T>C
n.726T>C
c.119T>C
c.4314T>C (p.Arg1438=)
c.3999T>C (p.Arg1333=)
c.1896T>C (p.Arg632=)
c.4338T>C (p.Arg1446=)
c.4329T>C (p.Arg1443=)
c.4320T>C (p.Arg1440=)
c.2658T>C (p.Arg886=)
 gnomAD v4
Xg.108687489T>GCA517924400COL4A5c.4323T>G (p.Arg1441=)
c.4305T>G (p.Arg1435=)
n.817T>G
n.726T>G
c.119T>G
c.4314T>G (p.Arg1438=)
c.3999T>G (p.Arg1333=)
c.1896T>G (p.Arg632=)
c.4338T>G (p.Arg1446=)
c.4329T>G (p.Arg1443=)
c.4320T>G (p.Arg1440=)
c.2658T>G (p.Arg886=)
Xg.108687492_108687518delCA334058980COL4A5c.4326_4352del (p.Leu1443_Gly1451del)
c.4308_4334del (p.Leu1437_Gly1445del)
n.820_846del
c.122_148del
c.4317_4343del (p.Leu1440_Gly1448del)
c.4002_4028del (p.Leu1335_Gly1343del)
c.1899_1925del (p.Leu634_Gly642del)
c.4341_4367del (p.Leu1448_Gly1456del)
c.4332_4358del (p.Leu1445_Gly1453del)
c.4323_4349del (p.Leu1442_Gly1450del)
c.2661_2687del (p.Leu888_Gly896del)
 dbSNP
Xg.108687490G>ACA413853935COL4A5c.4324G>A (p.Gly1442Ser)
c.4306G>A (p.Gly1436Ser)
n.818G>A
n.727G>A
c.120G>A
c.4315G>A (p.Gly1439Ser)
c.4000G>A (p.Gly1334Ser)
c.1897G>A (p.Gly633Ser)
c.4339G>A (p.Gly1447Ser)
c.4330G>A (p.Gly1444Ser)
c.4321G>A (p.Gly1441Ser)
c.2659G>A (p.Gly887Ser)
Xg.108687490G>CCA413853937COL4A5c.4324G>C (p.Gly1442Arg)
c.4306G>C (p.Gly1436Arg)
n.818G>C
n.727G>C
c.120G>C
c.4315G>C (p.Gly1439Arg)
c.4000G>C (p.Gly1334Arg)
c.1897G>C (p.Gly633Arg)
c.4339G>C (p.Gly1447Arg)
c.4330G>C (p.Gly1444Arg)
c.4321G>C (p.Gly1441Arg)
c.2659G>C (p.Gly887Arg)
Xg.108687490G>TCA413853938COL4A5c.4324G>T (p.Gly1442Cys)
c.4306G>T (p.Gly1436Cys)
n.818G>T
n.727G>T
c.120G>T
c.4315G>T (p.Gly1439Cys)
c.4000G>T (p.Gly1334Cys)
c.1897G>T (p.Gly633Cys)
c.4339G>T (p.Gly1447Cys)
c.4330G>T (p.Gly1444Cys)
c.4321G>T (p.Gly1441Cys)
c.2659G>T (p.Gly887Cys)
Xg.108687491G>ACA413853940COL4A5c.4325G>A (p.Gly1442Asp)
c.4307G>A (p.Gly1436Asp)
n.819G>A
n.728G>A
c.121G>A
c.4316G>A (p.Gly1439Asp)
c.4001G>A (p.Gly1334Asp)
c.1898G>A (p.Gly633Asp)
c.4340G>A (p.Gly1447Asp)
c.4331G>A (p.Gly1444Asp)
c.4322G>A (p.Gly1441Asp)
c.2660G>A (p.Gly887Asp)
 ClinVar dbSNP
Xg.108687491G>CCA413853942COL4A5c.4325G>C (p.Gly1442Ala)
c.4307G>C (p.Gly1436Ala)
n.819G>C
n.728G>C
c.121G>C
c.4316G>C (p.Gly1439Ala)
c.4001G>C (p.Gly1334Ala)
c.1898G>C (p.Gly633Ala)
c.4340G>C (p.Gly1447Ala)
c.4331G>C (p.Gly1444Ala)
c.4322G>C (p.Gly1441Ala)
c.2660G>C (p.Gly887Ala)
Xg.108687491G>TCA413853944COL4A5c.4325G>T (p.Gly1442Val)
c.4307G>T (p.Gly1436Val)
n.819G>T
n.728G>T
c.121G>T
c.4316G>T (p.Gly1439Val)
c.4001G>T (p.Gly1334Val)
c.1898G>T (p.Gly633Val)
c.4340G>T (p.Gly1447Val)
c.4331G>T (p.Gly1444Val)
c.4322G>T (p.Gly1441Val)
c.2660G>T (p.Gly887Val)
Xg.108687492T>ACA10489343COL4A5c.4326T>A (p.Gly1442=)
c.4308T>A (p.Gly1436=)
n.820T>A
n.729T>A
c.122T>A
c.4317T>A (p.Gly1439=)
c.4002T>A (p.Gly1334=)
c.1899T>A (p.Gly633=)
c.4341T>A (p.Gly1447=)
c.4332T>A (p.Gly1444=)
c.4323T>A (p.Gly1441=)
c.2661T>A (p.Gly887=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108687492T>CCA517924404COL4A5c.4326T>C (p.Gly1442=)
c.4308T>C (p.Gly1436=)
n.820T>C
n.729T>C
c.122T>C
c.4317T>C (p.Gly1439=)
c.4002T>C (p.Gly1334=)
c.1899T>C (p.Gly633=)
c.4341T>C (p.Gly1447=)
c.4332T>C (p.Gly1444=)
c.4323T>C (p.Gly1441=)
c.2661T>C (p.Gly887=)
Xg.108687492T>GCA517924406COL4A5c.4326T>G (p.Gly1442=)
c.4308T>G (p.Gly1436=)
n.820T>G
n.729T>G
c.122T>G
c.4317T>G (p.Gly1439=)
c.4002T>G (p.Gly1334=)
c.1899T>G (p.Gly633=)
c.4341T>G (p.Gly1447=)
c.4332T>G (p.Gly1444=)
c.4323T>G (p.Gly1441=)
c.2661T>G (p.Gly887=)
Xg.108687492T=CA2450719206COL4A5c.4326T= (p.Gly1442=)
c.4308T= (p.Gly1436=)
n.820T=
n.729T=
c.122T=
c.4317T= (p.Gly1439=)
c.4002T= (p.Gly1334=)
c.1899T= (p.Gly633=)
c.4341T= (p.Gly1447=)
c.4332T= (p.Gly1444=)
c.4323T= (p.Gly1441=)
c.2661T= (p.Gly887=)
Xg.108687493T>ACA413853947COL4A5c.4327T>A (p.Leu1443Met)
c.4309T>A (p.Leu1437Met)
n.821T>A
n.730T>A
c.123T>A
c.4318T>A (p.Leu1440Met)
c.4003T>A (p.Leu1335Met)
c.1900T>A (p.Leu634Met)
c.4342T>A (p.Leu1448Met)
c.4333T>A (p.Leu1445Met)
c.4324T>A (p.Leu1442Met)
c.2662T>A (p.Leu888Met)
Xg.108687493T>CCA517924407COL4A5c.4327T>C (p.Leu1443=)
c.4309T>C (p.Leu1437=)
n.821T>C
n.730T>C
c.123T>C
c.4318T>C (p.Leu1440=)
c.4003T>C (p.Leu1335=)
c.1900T>C (p.Leu634=)
c.4342T>C (p.Leu1448=)
c.4333T>C (p.Leu1445=)
c.4324T>C (p.Leu1442=)
c.2662T>C (p.Leu888=)
Xg.108687493T>GCA413853946COL4A5c.4327T>G (p.Leu1443Val)
c.4309T>G (p.Leu1437Val)
n.821T>G
n.730T>G
c.123T>G
c.4318T>G (p.Leu1440Val)
c.4003T>G (p.Leu1335Val)
c.1900T>G (p.Leu634Val)
c.4342T>G (p.Leu1448Val)
c.4333T>G (p.Leu1445Val)
c.4324T>G (p.Leu1442Val)
c.2662T>G (p.Leu888Val)
Xg.108687494T>ACA413853948COL4A5c.4328T>A (p.Leu1443Ter)
c.4310T>A (p.Leu1437Ter)
n.822T>A
n.731T>A
c.124T>A
c.4319T>A (p.Leu1440Ter)
c.4004T>A (p.Leu1335Ter)
c.1901T>A (p.Leu634Ter)
c.4343T>A (p.Leu1448Ter)
c.4334T>A (p.Leu1445Ter)
c.4325T>A (p.Leu1442Ter)
c.2663T>A (p.Leu888Ter)
Xg.108687494T>CCA413853949COL4A5c.4328T>C (p.Leu1443Ser)
c.4310T>C (p.Leu1437Ser)
n.822T>C
n.731T>C
c.124T>C
c.4319T>C (p.Leu1440Ser)
c.4004T>C (p.Leu1335Ser)
c.1901T>C (p.Leu634Ser)
c.4343T>C (p.Leu1448Ser)
c.4334T>C (p.Leu1445Ser)
c.4325T>C (p.Leu1442Ser)
c.2663T>C (p.Leu888Ser)
Xg.108687494T>GCA413853951COL4A5c.4328T>G (p.Leu1443Trp)
c.4310T>G (p.Leu1437Trp)
n.822T>G
n.731T>G
c.124T>G
c.4319T>G (p.Leu1440Trp)
c.4004T>G (p.Leu1335Trp)
c.1901T>G (p.Leu634Trp)
c.4343T>G (p.Leu1448Trp)
c.4334T>G (p.Leu1445Trp)
c.4325T>G (p.Leu1442Trp)
c.2663T>G (p.Leu888Trp)
Xg.108687495G>ACA517924410COL4A5c.4329G>A (p.Leu1443=)
c.4311G>A (p.Leu1437=)
n.823G>A
n.732G>A
c.125G>A
c.4320G>A (p.Leu1440=)
c.4005G>A (p.Leu1335=)
c.1902G>A (p.Leu634=)
c.4344G>A (p.Leu1448=)
c.4335G>A (p.Leu1445=)
c.4326G>A (p.Leu1442=)
c.2664G>A (p.Leu888=)
 gnomAD v4
Xg.108687495G>CCA413853953COL4A5c.4329G>C (p.Leu1443Phe)
c.4311G>C (p.Leu1437Phe)
n.823G>C
n.732G>C
c.125G>C
c.4320G>C (p.Leu1440Phe)
c.4005G>C (p.Leu1335Phe)
c.1902G>C (p.Leu634Phe)
c.4344G>C (p.Leu1448Phe)
c.4335G>C (p.Leu1445Phe)
c.4326G>C (p.Leu1442Phe)
c.2664G>C (p.Leu888Phe)
Xg.108687495G>TCA413853955COL4A5c.4329G>T (p.Leu1443Phe)
c.4311G>T (p.Leu1437Phe)
n.823G>T
n.732G>T
c.125G>T
c.4320G>T (p.Leu1440Phe)
c.4005G>T (p.Leu1335Phe)
c.1902G>T (p.Leu634Phe)
c.4344G>T (p.Leu1448Phe)
c.4335G>T (p.Leu1445Phe)
c.4326G>T (p.Leu1442Phe)
c.2664G>T (p.Leu888Phe)
Xg.108687496G>ACA413853957COL4A5c.4330G>A (p.Asp1444Asn)
c.4312G>A (p.Asp1438Asn)
n.824G>A
n.733G>A
c.126G>A
c.4321G>A (p.Asp1441Asn)
c.4006G>A (p.Asp1336Asn)
c.1903G>A (p.Asp635Asn)
c.4345G>A (p.Asp1449Asn)
c.4336G>A (p.Asp1446Asn)
c.4327G>A (p.Asp1443Asn)
c.2665G>A (p.Asp889Asn)
 dbSNP gnomAD v3 gnomAD v4
Xg.108687496G>CCA413853959COL4A5c.4330G>C (p.Asp1444His)
c.4312G>C (p.Asp1438His)
n.824G>C
n.733G>C
c.126G>C
c.4321G>C (p.Asp1441His)
c.4006G>C (p.Asp1336His)
c.1903G>C (p.Asp635His)
c.4345G>C (p.Asp1449His)
c.4336G>C (p.Asp1446His)
c.4327G>C (p.Asp1443His)
c.2665G>C (p.Asp889His)
Xg.108687496G=CA2450719207COL4A5c.4330G= (p.Asp1444=)
c.4312G= (p.Asp1438=)
n.824G=
n.733G=
c.126G=
c.4321G= (p.Asp1441=)
c.4006G= (p.Asp1336=)
c.1903G= (p.Asp635=)
c.4345G= (p.Asp1449=)
c.4336G= (p.Asp1446=)
c.4327G= (p.Asp1443=)
c.2665G= (p.Asp889=)
Xg.108687496G>TCA413853961COL4A5c.4330G>T (p.Asp1444Tyr)
c.4312G>T (p.Asp1438Tyr)
n.824G>T
n.733G>T
c.126G>T
c.4321G>T (p.Asp1441Tyr)
c.4006G>T (p.Asp1336Tyr)
c.1903G>T (p.Asp635Tyr)
c.4345G>T (p.Asp1449Tyr)
c.4336G>T (p.Asp1446Tyr)
c.4327G>T (p.Asp1443Tyr)
c.2665G>T (p.Asp889Tyr)
Xg.108687497A>CCA413853963COL4A5c.4331A>C (p.Asp1444Ala)
c.4313A>C (p.Asp1438Ala)
n.825A>C
n.734A>C
c.127A>C
c.4322A>C (p.Asp1441Ala)
c.4007A>C (p.Asp1336Ala)
c.1904A>C (p.Asp635Ala)
c.4346A>C (p.Asp1449Ala)
c.4337A>C (p.Asp1446Ala)
c.4328A>C (p.Asp1443Ala)
c.2666A>C (p.Asp889Ala)
Xg.108687497A>GCA413853965COL4A5c.4331A>G (p.Asp1444Gly)
c.4313A>G (p.Asp1438Gly)
n.825A>G
n.734A>G
c.127A>G
c.4322A>G (p.Asp1441Gly)
c.4007A>G (p.Asp1336Gly)
c.1904A>G (p.Asp635Gly)
c.4346A>G (p.Asp1449Gly)
c.4337A>G (p.Asp1446Gly)
c.4328A>G (p.Asp1443Gly)
c.2666A>G (p.Asp889Gly)
Xg.108687497A>TCA413853967COL4A5c.4331A>T (p.Asp1444Val)
c.4313A>T (p.Asp1438Val)
n.825A>T
n.734A>T
c.127A>T
c.4322A>T (p.Asp1441Val)
c.4007A>T (p.Asp1336Val)
c.1904A>T (p.Asp635Val)
c.4346A>T (p.Asp1449Val)
c.4337A>T (p.Asp1446Val)
c.4328A>T (p.Asp1443Val)
c.2666A>T (p.Asp889Val)
Xg.108687498T>ACA413853969COL4A5c.4332T>A (p.Asp1444Glu)
c.4314T>A (p.Asp1438Glu)
n.826T>A
n.735T>A
c.128T>A
c.4323T>A (p.Asp1441Glu)
c.4008T>A (p.Asp1336Glu)
c.1905T>A (p.Asp635Glu)
c.4347T>A (p.Asp1449Glu)
c.4338T>A (p.Asp1446Glu)
c.4329T>A (p.Asp1443Glu)
c.2667T>A (p.Asp889Glu)
Xg.108687498T>CCA517924415COL4A5c.4332T>C (p.Asp1444=)
c.4314T>C (p.Asp1438=)
n.826T>C
n.735T>C
c.128T>C
c.4323T>C (p.Asp1441=)
c.4008T>C (p.Asp1336=)
c.1905T>C (p.Asp635=)
c.4347T>C (p.Asp1449=)
c.4338T>C (p.Asp1446=)
c.4329T>C (p.Asp1443=)
c.2667T>C (p.Asp889=)
Xg.108687498T>GCA413853970COL4A5c.4332T>G (p.Asp1444Glu)
c.4314T>G (p.Asp1438Glu)
n.826T>G
n.735T>G
c.128T>G
c.4323T>G (p.Asp1441Glu)
c.4008T>G (p.Asp1336Glu)
c.1905T>G (p.Asp635Glu)
c.4347T>G (p.Asp1449Glu)
c.4338T>G (p.Asp1446Glu)
c.4329T>G (p.Asp1443Glu)
c.2667T>G (p.Asp889Glu)
Xg.108687498T=CA2450719209COL4A5c.4332T= (p.Asp1444=)
c.4314T= (p.Asp1438=)
n.826T=
n.735T=
c.128T=
c.4323T= (p.Asp1441=)
c.4008T= (p.Asp1336=)
c.1905T= (p.Asp635=)
c.4347T= (p.Asp1449=)
c.4338T= (p.Asp1446=)
c.4329T= (p.Asp1443=)
c.2667T= (p.Asp889=)
Xg.108687499G>ACA413853971COL4A5c.4333G>A (p.Gly1445Ser)
c.4315G>A (p.Gly1439Ser)
n.827G>A
n.736G>A
c.129G>A
c.4324G>A (p.Gly1442Ser)
c.4009G>A (p.Gly1337Ser)
c.1906G>A (p.Gly636Ser)
c.4348G>A (p.Gly1450Ser)
c.4339G>A (p.Gly1447Ser)
c.4330G>A (p.Gly1444Ser)
c.2668G>A (p.Gly890Ser)
Xg.108687499G>CCA413853972COL4A5c.4333G>C (p.Gly1445Arg)
c.4315G>C (p.Gly1439Arg)
n.827G>C
n.736G>C
c.129G>C
c.4324G>C (p.Gly1442Arg)
c.4009G>C (p.Gly1337Arg)
c.1906G>C (p.Gly636Arg)
c.4348G>C (p.Gly1450Arg)
c.4339G>C (p.Gly1447Arg)
c.4330G>C (p.Gly1444Arg)
c.2668G>C (p.Gly890Arg)
Xg.108687499G>TCA413853973COL4A5c.4333G>T (p.Gly1445Cys)
c.4315G>T (p.Gly1439Cys)
n.827G>T
n.736G>T
c.129G>T
c.4324G>T (p.Gly1442Cys)
c.4009G>T (p.Gly1337Cys)
c.1906G>T (p.Gly636Cys)
c.4348G>T (p.Gly1450Cys)
c.4339G>T (p.Gly1447Cys)
c.4330G>T (p.Gly1444Cys)
c.2668G>T (p.Gly890Cys)
Xg.108687510_108687545dupCA259023COL4A5c.4344_4379dup (p.Gly1460_Thr1461insProAspGlyLeuGlnGlyProProGlyProProGly)
c.4326_4361dup (p.Gly1454_Thr1455insProAspGlyLeuGlnGlyProProGlyProProGly)
n.838_873dup
c.140_175dup
c.4335_4370dup (p.Gly1457_Thr1458insProAspGlyLeuGlnGlyProProGlyProProGly)
c.4020_4055dup (p.Gly1352_Thr1353insProAspGlyLeuGlnGlyProProGlyProProGly)
c.1917_1952dup (p.Gly651_Thr652insProAspGlyLeuGlnGlyProProGlyProProGly)
c.4359_4394dup (p.Gly1465_Thr1466insProAspGlyLeuGlnGlyProProGlyProProGly)
c.4350_4385dup (p.Gly1462_Thr1463insProAspGlyLeuGlnGlyProProGlyProProGly)
c.4341_4376dup (p.Gly1459_Thr1460insProAspGlyLeuGlnGlyProProGlyProProGly)
c.2679_2714dup (p.Gly905_Thr906insProAspGlyLeuGlnGlyProProGlyProProGly)
 dbSNP
Xg.108687500G>ACA413853975COL4A5c.4334G>A (p.Gly1445Asp)
c.4316G>A (p.Gly1439Asp)
n.828G>A
n.737G>A
c.130G>A
c.4325G>A (p.Gly1442Asp)
c.4010G>A (p.Gly1337Asp)
c.1907G>A (p.Gly636Asp)
c.4349G>A (p.Gly1450Asp)
c.4340G>A (p.Gly1447Asp)
c.4331G>A (p.Gly1444Asp)
c.2669G>A (p.Gly890Asp)
Xg.108687500G>CCA413853974COL4A5c.4334G>C (p.Gly1445Ala)
c.4316G>C (p.Gly1439Ala)
n.828G>C
n.737G>C
c.130G>C
c.4325G>C (p.Gly1442Ala)
c.4010G>C (p.Gly1337Ala)
c.1907G>C (p.Gly636Ala)
c.4349G>C (p.Gly1450Ala)
c.4340G>C (p.Gly1447Ala)
c.4331G>C (p.Gly1444Ala)
c.2669G>C (p.Gly890Ala)
Xg.108687500G=CA2450719211COL4A5c.4334G= (p.Gly1445=)
c.4316G= (p.Gly1439=)
n.828G=
n.737G=
c.130G=
c.4325G= (p.Gly1442=)
c.4010G= (p.Gly1337=)
c.1907G= (p.Gly636=)
c.4349G= (p.Gly1450=)
c.4340G= (p.Gly1447=)
c.4331G= (p.Gly1444=)
c.2669G= (p.Gly890=)
Xg.108687500G>TCA10489344COL4A5c.4334G>T (p.Gly1445Val)
c.4316G>T (p.Gly1439Val)
n.828G>T
n.737G>T
c.130G>T
c.4325G>T (p.Gly1442Val)
c.4010G>T (p.Gly1337Val)
c.1907G>T (p.Gly636Val)
c.4349G>T (p.Gly1450Val)
c.4340G>T (p.Gly1447Val)
c.4331G>T (p.Gly1444Val)
c.2669G>T (p.Gly890Val)
 dbSNP ExAC
Xg.108687501T>ACA517924420COL4A5c.4335T>A (p.Gly1445=)
c.4317T>A (p.Gly1439=)
n.829T>A
c.131T>A
c.4326T>A (p.Gly1442=)
c.4011T>A (p.Gly1337=)
c.1908T>A (p.Gly636=)
c.4350T>A (p.Gly1450=)
c.4341T>A (p.Gly1447=)
c.4332T>A (p.Gly1444=)
c.2670T>A (p.Gly890=)
Xg.108687501T>CCA517924419COL4A5c.4335T>C (p.Gly1445=)
c.4317T>C (p.Gly1439=)
n.829T>C
c.131T>C
c.4326T>C (p.Gly1442=)
c.4011T>C (p.Gly1337=)
c.1908T>C (p.Gly636=)
c.4350T>C (p.Gly1450=)
c.4341T>C (p.Gly1447=)
c.4332T>C (p.Gly1444=)
c.2670T>C (p.Gly890=)
Xg.108687501T>GCA517924418COL4A5c.4335T>G (p.Gly1445=)
c.4317T>G (p.Gly1439=)
n.829T>G
c.131T>G
c.4326T>G (p.Gly1442=)
c.4011T>G (p.Gly1337=)
c.1908T>G (p.Gly636=)
c.4350T>G (p.Gly1450=)
c.4341T>G (p.Gly1447=)
c.4332T>G (p.Gly1444=)
c.2670T>G (p.Gly890=)
Xg.108687502C>ACA413853976COL4A5c.4336C>A (p.Pro1446Thr)
c.4318C>A (p.Pro1440Thr)
n.830C>A
c.132C>A
c.4327C>A (p.Pro1443Thr)
c.4012C>A (p.Pro1338Thr)
c.1909C>A (p.Pro637Thr)
c.4351C>A (p.Pro1451Thr)
c.4342C>A (p.Pro1448Thr)
c.4333C>A (p.Pro1445Thr)
c.2671C>A (p.Pro891Thr)
 dbSNP gnomAD v3 gnomAD v4
Xg.108687502C=CA2450719213COL4A5c.4336C= (p.Pro1446=)
c.4318C= (p.Pro1440=)
n.830C=
c.132C=
c.4327C= (p.Pro1443=)
c.4012C= (p.Pro1338=)
c.1909C= (p.Pro637=)
c.4351C= (p.Pro1451=)
c.4342C= (p.Pro1448=)
c.4333C= (p.Pro1445=)
c.2671C= (p.Pro891=)
Xg.108687502C>GCA334059022COL4A5c.4336C>G (p.Pro1446Ala)
c.4318C>G (p.Pro1440Ala)
n.830C>G
c.132C>G
c.4327C>G (p.Pro1443Ala)
c.4012C>G (p.Pro1338Ala)
c.1909C>G (p.Pro637Ala)
c.4351C>G (p.Pro1451Ala)
c.4342C>G (p.Pro1448Ala)
c.4333C>G (p.Pro1445Ala)
c.2671C>G (p.Pro891Ala)
 dbSNP
Xg.108687502C>TCA413853977COL4A5c.4336C>T (p.Pro1446Ser)
c.4318C>T (p.Pro1440Ser)
n.830C>T
c.132C>T
c.4327C>T (p.Pro1443Ser)
c.4012C>T (p.Pro1338Ser)
c.1909C>T (p.Pro637Ser)
c.4351C>T (p.Pro1451Ser)
c.4342C>T (p.Pro1448Ser)
c.4333C>T (p.Pro1445Ser)
c.2671C>T (p.Pro891Ser)
Xg.108687505_108687506dupCA2573159105COL4A5c.4339_4340dup (p.Gly1448LeufsTer?)
c.4321_4322dup (p.Gly1442LeufsTer?)
n.833_834dup
c.135_136dup
c.4330_4331dup (p.Gly1445LeufsTer?)
c.4015_4016dup (p.Gly1340LeufsTer?)
c.1912_1913dup (p.Gly639LeufsTer?)
c.4354_4355dup (p.Gly1453LeufsTer?)
c.4345_4346dup (p.Gly1450LeufsTer?)
c.4336_4337dup (p.Gly1447LeufsTer?)
c.2674_2675dup (p.Gly893LeufsTer?)
 ClinVar dbSNP
Xg.108687503C>ACA10489345COL4A5c.4337C>A (p.Pro1446His)
c.4319C>A (p.Pro1440His)
n.831C>A
c.133C>A
c.4328C>A (p.Pro1443His)
c.4013C>A (p.Pro1338His)
c.1910C>A (p.Pro637His)
c.4352C>A (p.Pro1451His)
c.4343C>A (p.Pro1448His)
c.4334C>A (p.Pro1445His)
c.2672C>A (p.Pro891His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108687503C=CA2450719214COL4A5c.4337C= (p.Pro1446=)
c.4319C= (p.Pro1440=)
n.831C=
c.133C=
c.4328C= (p.Pro1443=)
c.4013C= (p.Pro1338=)
c.1910C= (p.Pro637=)
c.4352C= (p.Pro1451=)
c.4343C= (p.Pro1448=)
c.4334C= (p.Pro1445=)
c.2672C= (p.Pro891=)
Xg.108687503C>GCA413853978COL4A5c.4337C>G (p.Pro1446Arg)
c.4319C>G (p.Pro1440Arg)
n.831C>G
c.133C>G
c.4328C>G (p.Pro1443Arg)
c.4013C>G (p.Pro1338Arg)
c.1910C>G (p.Pro637Arg)
c.4352C>G (p.Pro1451Arg)
c.4343C>G (p.Pro1448Arg)
c.4334C>G (p.Pro1445Arg)
c.2672C>G (p.Pro891Arg)
Xg.108687503C>TCA413853979COL4A5c.4337C>T (p.Pro1446Leu)
c.4319C>T (p.Pro1440Leu)
n.831C>T
c.133C>T
c.4328C>T (p.Pro1443Leu)
c.4013C>T (p.Pro1338Leu)
c.1910C>T (p.Pro637Leu)
c.4352C>T (p.Pro1451Leu)
c.4343C>T (p.Pro1448Leu)
c.4334C>T (p.Pro1445Leu)
c.2672C>T (p.Pro891Leu)
 gnomAD v4
Xg.108687504C>ACA517924424COL4A5c.4338C>A (p.Pro1446=)
c.4320C>A (p.Pro1440=)
n.832C>A
c.134C>A
c.4329C>A (p.Pro1443=)
c.4014C>A (p.Pro1338=)
c.1911C>A (p.Pro637=)
c.4353C>A (p.Pro1451=)
c.4344C>A (p.Pro1448=)
c.4335C>A (p.Pro1445=)
c.2673C>A (p.Pro891=)
Xg.108687504C=CA2450719215COL4A5c.4338C= (p.Pro1446=)
c.4320C= (p.Pro1440=)
n.832C=
c.134C=
c.4329C= (p.Pro1443=)
c.4014C= (p.Pro1338=)
c.1911C= (p.Pro637=)
c.4353C= (p.Pro1451=)
c.4344C= (p.Pro1448=)
c.4335C= (p.Pro1445=)
c.2673C= (p.Pro891=)
Xg.108687504C>GCA517924425COL4A5c.4338C>G (p.Pro1446=)
c.4320C>G (p.Pro1440=)
n.832C>G
c.134C>G
c.4329C>G (p.Pro1443=)
c.4014C>G (p.Pro1338=)
c.1911C>G (p.Pro637=)
c.4353C>G (p.Pro1451=)
c.4344C>G (p.Pro1448=)
c.4335C>G (p.Pro1445=)
c.2673C>G (p.Pro891=)
Xg.108687504C>TCA517924426COL4A5c.4338C>T (p.Pro1446=)
c.4320C>T (p.Pro1440=)
n.832C>T
c.134C>T
c.4329C>T (p.Pro1443=)
c.4014C>T (p.Pro1338=)
c.1911C>T (p.Pro637=)
c.4353C>T (p.Pro1451=)
c.4344C>T (p.Pro1448=)
c.4335C>T (p.Pro1445=)
c.2673C>T (p.Pro891=)
 ClinVar dbSNP gnomAD v4
Xg.108687505C>ACA413853980COL4A5c.4339C>A (p.Pro1447Thr)
c.4321C>A (p.Pro1441Thr)
n.833C>A
c.135C>A
c.4330C>A (p.Pro1444Thr)
c.4015C>A (p.Pro1339Thr)
c.1912C>A (p.Pro638Thr)
c.4354C>A (p.Pro1452Thr)
c.4345C>A (p.Pro1449Thr)
c.4336C>A (p.Pro1446Thr)
c.2674C>A (p.Pro892Thr)
Xg.108687505C=CA2450719216COL4A5c.4339C= (p.Pro1447=)
c.4321C= (p.Pro1441=)
n.833C=
c.135C=
c.4330C= (p.Pro1444=)
c.4015C= (p.Pro1339=)
c.1912C= (p.Pro638=)
c.4354C= (p.Pro1452=)
c.4345C= (p.Pro1449=)
c.4336C= (p.Pro1446=)
c.2674C= (p.Pro892=)
Xg.108687505C>GCA413853981COL4A5c.4339C>G (p.Pro1447Ala)
c.4321C>G (p.Pro1441Ala)
n.833C>G
c.135C>G
c.4330C>G (p.Pro1444Ala)
c.4015C>G (p.Pro1339Ala)
c.1912C>G (p.Pro638Ala)
c.4354C>G (p.Pro1452Ala)
c.4345C>G (p.Pro1449Ala)
c.4336C>G (p.Pro1446Ala)
c.2674C>G (p.Pro892Ala)
Xg.108687505C>TCA10489346COL4A5c.4339C>T (p.Pro1447Ser)
c.4321C>T (p.Pro1441Ser)
n.833C>T
c.135C>T
c.4330C>T (p.Pro1444Ser)
c.4015C>T (p.Pro1339Ser)
c.1912C>T (p.Pro638Ser)
c.4354C>T (p.Pro1452Ser)
c.4345C>T (p.Pro1449Ser)
c.4336C>T (p.Pro1446Ser)
c.2674C>T (p.Pro892Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108687506C>ACA413853982COL4A5c.4340C>A (p.Pro1447His)
c.4322C>A (p.Pro1441His)
n.834C>A
c.136C>A
c.4331C>A (p.Pro1444His)
c.4016C>A (p.Pro1339His)
c.1913C>A (p.Pro638His)
c.4355C>A (p.Pro1452His)
c.4346C>A (p.Pro1449His)
c.4337C>A (p.Pro1446His)
c.2675C>A (p.Pro892His)
Xg.108687506C>GCA413853983COL4A5c.4340C>G (p.Pro1447Arg)
c.4322C>G (p.Pro1441Arg)
n.834C>G
c.136C>G
c.4331C>G (p.Pro1444Arg)
c.4016C>G (p.Pro1339Arg)
c.1913C>G (p.Pro638Arg)
c.4355C>G (p.Pro1452Arg)
c.4346C>G (p.Pro1449Arg)
c.4337C>G (p.Pro1446Arg)
c.2675C>G (p.Pro892Arg)
Xg.108687506C>TCA413853984COL4A5c.4340C>T (p.Pro1447Leu)
c.4322C>T (p.Pro1441Leu)
n.834C>T
c.136C>T
c.4331C>T (p.Pro1444Leu)
c.4016C>T (p.Pro1339Leu)
c.1913C>T (p.Pro638Leu)
c.4355C>T (p.Pro1452Leu)
c.4346C>T (p.Pro1449Leu)
c.4337C>T (p.Pro1446Leu)
c.2675C>T (p.Pro892Leu)
Xg.108687507delCA2697544697COL4A5c.4341del (p.Gly1448ValfsTer?)
c.4323del (p.Gly1442ValfsTer?)
n.835del
c.137del
c.4332del (p.Gly1445ValfsTer?)
c.4017del (p.Gly1340ValfsTer?)
c.1914del (p.Gly639ValfsTer?)
c.4356del (p.Gly1453ValfsTer?)
c.4347del (p.Gly1450ValfsTer?)
c.4338del (p.Gly1447ValfsTer?)
c.2676del (p.Gly893ValfsTer?)
 ClinVar
Xg.108687507T>ACA517924431COL4A5c.4341T>A (p.Pro1447=)
c.4323T>A (p.Pro1441=)
n.835T>A
c.137T>A
c.4332T>A (p.Pro1444=)
c.4017T>A (p.Pro1339=)
c.1914T>A (p.Pro638=)
c.4356T>A (p.Pro1452=)
c.4347T>A (p.Pro1449=)
c.4338T>A (p.Pro1446=)
c.2676T>A (p.Pro892=)
Xg.108687507T>CCA517924432COL4A5c.4341T>C (p.Pro1447=)
c.4323T>C (p.Pro1441=)
n.835T>C
c.137T>C
c.4332T>C (p.Pro1444=)
c.4017T>C (p.Pro1339=)
c.1914T>C (p.Pro638=)
c.4356T>C (p.Pro1452=)
c.4347T>C (p.Pro1449=)
c.4338T>C (p.Pro1446=)
c.2676T>C (p.Pro892=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108687507T>GCA517924430COL4A5c.4341T>G (p.Pro1447=)
c.4323T>G (p.Pro1441=)
n.835T>G
c.137T>G
c.4332T>G (p.Pro1444=)
c.4017T>G (p.Pro1339=)
c.1914T>G (p.Pro638=)
c.4356T>G (p.Pro1452=)
c.4347T>G (p.Pro1449=)
c.4338T>G (p.Pro1446=)
c.2676T>G (p.Pro892=)
Xg.108687507T=CA2450719218COL4A5c.4341T= (p.Pro1447=)
c.4323T= (p.Pro1441=)
n.835T=
c.137T=
c.4332T= (p.Pro1444=)
c.4017T= (p.Pro1339=)
c.1914T= (p.Pro638=)
c.4356T= (p.Pro1452=)
c.4347T= (p.Pro1449=)
c.4338T= (p.Pro1446=)
c.2676T= (p.Pro892=)
Xg.108687507_108687534delinsTGGTCCAGATGGATTGCAAGGTCCCCCACA2450719217COL4A5c.4341_4368delinsTGGTCCAGATGGATTGCAAGGTCCCCCA (p.Pro1447=)
c.4323_4350delinsTGGTCCAGATGGATTGCAAGGTCCCCCA (p.Pro1441=)
n.835_862delinsTGGTCCAGATGGATTGCAAGGTCCCCCA
c.137_164delinsTGGTCCAGATGGATTGCAAGGTCCCCCA
c.4332_4359delinsTGGTCCAGATGGATTGCAAGGTCCCCCA (p.Pro1444=)
c.4017_4044delinsTGGTCCAGATGGATTGCAAGGTCCCCCA (p.Pro1339=)
c.1914_1941delinsTGGTCCAGATGGATTGCAAGGTCCCCCA (p.Pro638=)
c.4356_4383delinsTGGTCCAGATGGATTGCAAGGTCCCCCA (p.Pro1452=)
c.4347_4374delinsTGGTCCAGATGGATTGCAAGGTCCCCCA (p.Pro1449=)
c.4338_4365delinsTGGTCCAGATGGATTGCAAGGTCCCCCA (p.Pro1446=)
c.2676_2703delinsTGGTCCAGATGGATTGCAAGGTCCCCCA (p.Pro892=)
Xg.108687508G>ACA413853985COL4A5c.4342G>A (p.Gly1448Ser)
c.4324G>A (p.Gly1442Ser)
n.836G>A
c.138G>A
c.4333G>A (p.Gly1445Ser)
c.4018G>A (p.Gly1340Ser)
c.1915G>A (p.Gly639Ser)
c.4357G>A (p.Gly1453Ser)
c.4348G>A (p.Gly1450Ser)
c.4339G>A (p.Gly1447Ser)
c.2677G>A (p.Gly893Ser)
Xg.108687508G>CCA259027COL4A5c.4342G>C (p.Gly1448Arg)
c.4324G>C (p.Gly1442Arg)
n.836G>C
c.138G>C
c.4333G>C (p.Gly1445Arg)
c.4018G>C (p.Gly1340Arg)
c.1915G>C (p.Gly639Arg)
c.4357G>C (p.Gly1453Arg)
c.4348G>C (p.Gly1450Arg)
c.4339G>C (p.Gly1447Arg)
c.2677G>C (p.Gly893Arg)
 ClinVar dbSNP
Xg.108687508G=CA2450719220COL4A5c.4342G= (p.Gly1448=)
c.4324G= (p.Gly1442=)
n.836G=
c.138G=
c.4333G= (p.Gly1445=)
c.4018G= (p.Gly1340=)
c.1915G= (p.Gly639=)
c.4357G= (p.Gly1453=)
c.4348G= (p.Gly1450=)
c.4339G= (p.Gly1447=)
c.2677G= (p.Gly893=)
Xg.108687508G>TCA413853986COL4A5c.4342G>T (p.Gly1448Cys)
c.4324G>T (p.Gly1442Cys)
n.836G>T
c.138G>T
c.4333G>T (p.Gly1445Cys)
c.4018G>T (p.Gly1340Cys)
c.1915G>T (p.Gly639Cys)
c.4357G>T (p.Gly1453Cys)
c.4348G>T (p.Gly1450Cys)
c.4339G>T (p.Gly1447Cys)
c.2677G>T (p.Gly893Cys)
 ClinVar
Xg.108687509dupCA2695235234COL4A5c.4343dup (p.Pro1449SerfsTer?)
c.4325dup (p.Pro1443SerfsTer?)
n.837dup
c.139dup
c.4334dup (p.Pro1446SerfsTer?)
c.4019dup (p.Pro1341SerfsTer?)
c.1916dup (p.Pro640SerfsTer?)
c.4358dup (p.Pro1454SerfsTer?)
c.4349dup (p.Pro1451SerfsTer?)
c.4340dup (p.Pro1448SerfsTer?)
c.2678dup (p.Pro894SerfsTer?)
Xg.108687509delCA2579677160COL4A5c.4343del (p.Gly1448ValfsTer?)
c.4325del (p.Gly1442ValfsTer?)
n.837del
c.139del
c.4334del (p.Gly1445ValfsTer?)
c.4019del (p.Gly1340ValfsTer?)
c.1916del (p.Gly639ValfsTer?)
c.4358del (p.Gly1453ValfsTer?)
c.4349del (p.Gly1450ValfsTer?)
c.4340del (p.Gly1447ValfsTer?)
c.2678del (p.Gly893ValfsTer?)
Xg.108687513_108687539delCA259030COL4A5c.4347_4373del (p.Asp1450_Pro1458del)
c.4329_4355del (p.Asp1444_Pro1452del)
n.841_867del
c.143_169del
c.4338_4364del (p.Asp1447_Pro1455del)
c.4023_4049del (p.Asp1342_Pro1350del)
c.1920_1946del (p.Asp641_Pro649del)
c.4362_4388del (p.Asp1455_Pro1463del)
c.4353_4379del (p.Asp1452_Pro1460del)
c.4344_4370del (p.Asp1449_Pro1457del)
c.2682_2708del (p.Asp895_Pro903del)
 dbSNP
Xg.108687509G>ACA259038COL4A5c.4343G>A (p.Gly1448Asp)
c.4325G>A (p.Gly1442Asp)
n.837G>A
c.139G>A
c.4334G>A (p.Gly1445Asp)
c.4019G>A (p.Gly1340Asp)
c.1916G>A (p.Gly639Asp)
c.4358G>A (p.Gly1453Asp)
c.4349G>A (p.Gly1450Asp)
c.4340G>A (p.Gly1447Asp)
c.2678G>A (p.Gly893Asp)
 dbSNP
Xg.108687509G>CCA259035COL4A5c.4343G>C (p.Gly1448Ala)
c.4325G>C (p.Gly1442Ala)
n.837G>C
c.139G>C
c.4334G>C (p.Gly1445Ala)
c.4019G>C (p.Gly1340Ala)
c.1916G>C (p.Gly639Ala)
c.4358G>C (p.Gly1453Ala)
c.4349G>C (p.Gly1450Ala)
c.4340G>C (p.Gly1447Ala)
c.2678G>C (p.Gly893Ala)
 dbSNP
Xg.108687509G=CA2450719222COL4A5c.4343G= (p.Gly1448=)
c.4325G= (p.Gly1442=)
n.837G=
c.139G=
c.4334G= (p.Gly1445=)
c.4019G= (p.Gly1340=)
c.1916G= (p.Gly639=)
c.4358G= (p.Gly1453=)
c.4349G= (p.Gly1450=)
c.4340G= (p.Gly1447=)
c.2678G= (p.Gly893=)
Xg.108687509G>TCA413853987COL4A5c.4343G>T (p.Gly1448Val)
c.4325G>T (p.Gly1442Val)
n.837G>T
c.139G>T
c.4334G>T (p.Gly1445Val)
c.4019G>T (p.Gly1340Val)
c.1916G>T (p.Gly639Val)
c.4358G>T (p.Gly1453Val)
c.4349G>T (p.Gly1450Val)
c.4340G>T (p.Gly1447Val)
c.2678G>T (p.Gly893Val)
Xg.108687510T>ACA517924437COL4A5c.4344T>A (p.Gly1448=)
c.4326T>A (p.Gly1442=)
n.838T>A
c.140T>A
c.4335T>A (p.Gly1445=)
c.4020T>A (p.Gly1340=)
c.1917T>A (p.Gly639=)
c.4359T>A (p.Gly1453=)
c.4350T>A (p.Gly1450=)
c.4341T>A (p.Gly1447=)
c.2679T>A (p.Gly893=)
Xg.108687510T>CCA10489347COL4A5c.4344T>C (p.Gly1448=)
c.4326T>C (p.Gly1442=)
n.838T>C
c.140T>C
c.4335T>C (p.Gly1445=)
c.4020T>C (p.Gly1340=)
c.1917T>C (p.Gly639=)
c.4359T>C (p.Gly1453=)
c.4350T>C (p.Gly1450=)
c.4341T>C (p.Gly1447=)
c.2679T>C (p.Gly893=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108687510T>GCA517924439COL4A5c.4344T>G (p.Gly1448=)
c.4326T>G (p.Gly1442=)
n.838T>G
c.140T>G
c.4335T>G (p.Gly1445=)
c.4020T>G (p.Gly1340=)
c.1917T>G (p.Gly639=)
c.4359T>G (p.Gly1453=)
c.4350T>G (p.Gly1450=)
c.4341T>G (p.Gly1447=)
c.2679T>G (p.Gly893=)
Xg.108687510T=CA2450719224COL4A5c.4344T= (p.Gly1448=)
c.4326T= (p.Gly1442=)
n.838T=
c.140T=
c.4335T= (p.Gly1445=)
c.4020T= (p.Gly1340=)
c.1917T= (p.Gly639=)
c.4359T= (p.Gly1453=)
c.4350T= (p.Gly1450=)
c.4341T= (p.Gly1447=)
c.2679T= (p.Gly893=)
Xg.108687510dupCA259043COL4A5c.4344dup (p.Pro1449SerfsTer?)
c.4326dup (p.Pro1443SerfsTer?)
n.838dup
c.140dup
c.4335dup (p.Pro1446SerfsTer?)
c.4020dup (p.Pro1341SerfsTer?)
c.1917dup (p.Pro640SerfsTer?)
c.4359dup (p.Pro1454SerfsTer?)
c.4350dup (p.Pro1451SerfsTer?)
c.4341dup (p.Pro1448SerfsTer?)
c.2679dup (p.Pro894SerfsTer?)
 dbSNP
Xg.108687511C>ACA413853991COL4A5c.4345C>A (p.Pro1449Thr)
c.4327C>A (p.Pro1443Thr)
n.839C>A
c.141C>A
c.4336C>A (p.Pro1446Thr)
c.4021C>A (p.Pro1341Thr)
c.1918C>A (p.Pro640Thr)
c.4360C>A (p.Pro1454Thr)
c.4351C>A (p.Pro1451Thr)
c.4342C>A (p.Pro1448Thr)
c.2680C>A (p.Pro894Thr)
 gnomAD v4
Xg.108687511C=CA2450719225COL4A5c.4345C= (p.Pro1449=)
c.4327C= (p.Pro1443=)
n.839C=
c.141C=
c.4336C= (p.Pro1446=)
c.4021C= (p.Pro1341=)
c.1918C= (p.Pro640=)
c.4360C= (p.Pro1454=)
c.4351C= (p.Pro1451=)
c.4342C= (p.Pro1448=)
c.2680C= (p.Pro894=)
Xg.108687511C>GCA413853992COL4A5c.4345C>G (p.Pro1449Ala)
c.4327C>G (p.Pro1443Ala)
n.839C>G
c.141C>G
c.4336C>G (p.Pro1446Ala)
c.4021C>G (p.Pro1341Ala)
c.1918C>G (p.Pro640Ala)
c.4360C>G (p.Pro1454Ala)
c.4351C>G (p.Pro1451Ala)
c.4342C>G (p.Pro1448Ala)
c.2680C>G (p.Pro894Ala)
Xg.108687511C>TCA413853993COL4A5c.4345C>T (p.Pro1449Ser)
c.4327C>T (p.Pro1443Ser)
n.839C>T
c.141C>T
c.4336C>T (p.Pro1446Ser)
c.4021C>T (p.Pro1341Ser)
c.1918C>T (p.Pro640Ser)
c.4360C>T (p.Pro1454Ser)
c.4351C>T (p.Pro1451Ser)
c.4342C>T (p.Pro1448Ser)
c.2680C>T (p.Pro894Ser)
 dbSNP gnomAD v3 gnomAD v4
Xg.108687512C>ACA413853996COL4A5c.4346C>A (p.Pro1449Gln)
c.4328C>A (p.Pro1443Gln)
n.840C>A
c.142C>A
c.4337C>A (p.Pro1446Gln)
c.4022C>A (p.Pro1341Gln)
c.1919C>A (p.Pro640Gln)
c.4361C>A (p.Pro1454Gln)
c.4352C>A (p.Pro1451Gln)
c.4343C>A (p.Pro1448Gln)
c.2681C>A (p.Pro894Gln)
Xg.108687512C=CA2450719227COL4A5c.4346C= (p.Pro1449=)
c.4328C= (p.Pro1443=)
n.840C=
c.142C=
c.4337C= (p.Pro1446=)
c.4022C= (p.Pro1341=)
c.1919C= (p.Pro640=)
c.4361C= (p.Pro1454=)
c.4352C= (p.Pro1451=)
c.4343C= (p.Pro1448=)
c.2681C= (p.Pro894=)
Xg.108687512C>GCA413853998COL4A5c.4346C>G (p.Pro1449Arg)
c.4328C>G (p.Pro1443Arg)
n.840C>G
c.142C>G
c.4337C>G (p.Pro1446Arg)
c.4022C>G (p.Pro1341Arg)
c.1919C>G (p.Pro640Arg)
c.4361C>G (p.Pro1454Arg)
c.4352C>G (p.Pro1451Arg)
c.4343C>G (p.Pro1448Arg)
c.2681C>G (p.Pro894Arg)
 gnomAD v4
Xg.108687512C>TCA334059083COL4A5c.4346C>T (p.Pro1449Leu)
c.4328C>T (p.Pro1443Leu)
n.840C>T
c.142C>T
c.4337C>T (p.Pro1446Leu)
c.4022C>T (p.Pro1341Leu)
c.1919C>T (p.Pro640Leu)
c.4361C>T (p.Pro1454Leu)
c.4352C>T (p.Pro1451Leu)
c.4343C>T (p.Pro1448Leu)
c.2681C>T (p.Pro894Leu)
 dbSNP
Xg.108687513A>CCA517924440COL4A5c.4347A>C (p.Pro1449=)
c.4329A>C (p.Pro1443=)
n.841A>C
c.143A>C
c.4338A>C (p.Pro1446=)
c.4023A>C (p.Pro1341=)
c.1920A>C (p.Pro640=)
c.4362A>C (p.Pro1454=)
c.4353A>C (p.Pro1451=)
c.4344A>C (p.Pro1448=)
c.2682A>C (p.Pro894=)
Xg.108687513A>GCA517924442COL4A5c.4347A>G (p.Pro1449=)
c.4329A>G (p.Pro1443=)
n.841A>G
c.143A>G
c.4338A>G (p.Pro1446=)
c.4023A>G (p.Pro1341=)
c.1920A>G (p.Pro640=)
c.4362A>G (p.Pro1454=)
c.4353A>G (p.Pro1451=)
c.4344A>G (p.Pro1448=)
c.2682A>G (p.Pro894=)
Xg.108687513A>TCA517924444COL4A5c.4347A>T (p.Pro1449=)
c.4329A>T (p.Pro1443=)
n.841A>T
c.143A>T
c.4338A>T (p.Pro1446=)
c.4023A>T (p.Pro1341=)
c.1920A>T (p.Pro640=)
c.4362A>T (p.Pro1454=)
c.4353A>T (p.Pro1451=)
c.4344A>T (p.Pro1448=)
c.2682A>T (p.Pro894=)
Xg.108687514G>ACA413854002COL4A5c.4348G>A (p.Asp1450Asn)
c.4330G>A (p.Asp1444Asn)
n.842G>A
c.144G>A
c.4339G>A (p.Asp1447Asn)
c.4024G>A (p.Asp1342Asn)
c.1921G>A (p.Asp641Asn)
c.4363G>A (p.Asp1455Asn)
c.4354G>A (p.Asp1452Asn)
c.4345G>A (p.Asp1449Asn)
c.2683G>A (p.Asp895Asn)
Xg.108687514G>CCA413854003COL4A5c.4348G>C (p.Asp1450His)
c.4330G>C (p.Asp1444His)
n.842G>C
c.144G>C
c.4339G>C (p.Asp1447His)
c.4024G>C (p.Asp1342His)
c.1921G>C (p.Asp641His)
c.4363G>C (p.Asp1455His)
c.4354G>C (p.Asp1452His)
c.4345G>C (p.Asp1449His)
c.2683G>C (p.Asp895His)
Xg.108687514G>TCA413854005COL4A5c.4348G>T (p.Asp1450Tyr)
c.4330G>T (p.Asp1444Tyr)
n.842G>T
c.144G>T
c.4339G>T (p.Asp1447Tyr)
c.4024G>T (p.Asp1342Tyr)
c.1921G>T (p.Asp641Tyr)
c.4363G>T (p.Asp1455Tyr)
c.4354G>T (p.Asp1452Tyr)
c.4345G>T (p.Asp1449Tyr)
c.2683G>T (p.Asp895Tyr)
Xg.108687515A>CCA413854010COL4A5c.4349A>C (p.Asp1450Ala)
c.4331A>C (p.Asp1444Ala)
n.843A>C
c.145A>C
c.4340A>C (p.Asp1447Ala)
c.4025A>C (p.Asp1342Ala)
c.1922A>C (p.Asp641Ala)
c.4364A>C (p.Asp1455Ala)
c.4355A>C (p.Asp1452Ala)
c.4346A>C (p.Asp1449Ala)
c.2684A>C (p.Asp895Ala)
Xg.108687515A>GCA413854008COL4A5c.4349A>G (p.Asp1450Gly)
c.4331A>G (p.Asp1444Gly)
n.843A>G
c.145A>G
c.4340A>G (p.Asp1447Gly)
c.4025A>G (p.Asp1342Gly)
c.1922A>G (p.Asp641Gly)
c.4364A>G (p.Asp1455Gly)
c.4355A>G (p.Asp1452Gly)
c.4346A>G (p.Asp1449Gly)
c.2684A>G (p.Asp895Gly)
Xg.108687515A>TCA413854007COL4A5c.4349A>T (p.Asp1450Val)
c.4331A>T (p.Asp1444Val)
n.843A>T
c.145A>T
c.4340A>T (p.Asp1447Val)
c.4025A>T (p.Asp1342Val)
c.1922A>T (p.Asp641Val)
c.4364A>T (p.Asp1455Val)
c.4355A>T (p.Asp1452Val)
c.4346A>T (p.Asp1449Val)
c.2684A>T (p.Asp895Val)
Xg.108687516T>ACA413854014COL4A5c.4350T>A (p.Asp1450Glu)
c.4332T>A (p.Asp1444Glu)
n.844T>A
c.146T>A
c.4341T>A (p.Asp1447Glu)
c.4026T>A (p.Asp1342Glu)
c.1923T>A (p.Asp641Glu)
c.4365T>A (p.Asp1455Glu)
c.4356T>A (p.Asp1452Glu)
c.4347T>A (p.Asp1449Glu)
c.2685T>A (p.Asp895Glu)
Xg.108687516T>CCA517924448COL4A5c.4350T>C (p.Asp1450=)
c.4332T>C (p.Asp1444=)
n.844T>C
c.146T>C
c.4341T>C (p.Asp1447=)
c.4026T>C (p.Asp1342=)
c.1923T>C (p.Asp641=)
c.4365T>C (p.Asp1455=)
c.4356T>C (p.Asp1452=)
c.4347T>C (p.Asp1449=)
c.2685T>C (p.Asp895=)
 dbSNP gnomAD v2 gnomAD v4
Xg.108687516T>GCA413854012COL4A5c.4350T>G (p.Asp1450Glu)
c.4332T>G (p.Asp1444Glu)
n.844T>G
c.146T>G
c.4341T>G (p.Asp1447Glu)
c.4026T>G (p.Asp1342Glu)
c.1923T>G (p.Asp641Glu)
c.4365T>G (p.Asp1455Glu)
c.4356T>G (p.Asp1452Glu)
c.4347T>G (p.Asp1449Glu)
c.2685T>G (p.Asp895Glu)
Xg.108687516T=CA2450719228COL4A5c.4350T= (p.Asp1450=)
c.4332T= (p.Asp1444=)
n.844T=
c.146T=
c.4341T= (p.Asp1447=)
c.4026T= (p.Asp1342=)
c.1923T= (p.Asp641=)
c.4365T= (p.Asp1455=)
c.4356T= (p.Asp1452=)
c.4347T= (p.Asp1449=)
c.2685T= (p.Asp895=)
Xg.108687517G>ACA413854017COL4A5c.4351G>A (p.Gly1451Arg)
c.4333G>A (p.Gly1445Arg)
n.845G>A
c.147G>A
c.4342G>A (p.Gly1448Arg)
c.4027G>A (p.Gly1343Arg)
c.1924G>A (p.Gly642Arg)
c.4366G>A (p.Gly1456Arg)
c.4357G>A (p.Gly1453Arg)
c.4348G>A (p.Gly1450Arg)
c.2686G>A (p.Gly896Arg)
Xg.108687517G>CCA413854019COL4A5c.4351G>C (p.Gly1451Arg)
c.4333G>C (p.Gly1445Arg)
n.845G>C
c.147G>C
c.4342G>C (p.Gly1448Arg)
c.4027G>C (p.Gly1343Arg)
c.1924G>C (p.Gly642Arg)
c.4366G>C (p.Gly1456Arg)
c.4357G>C (p.Gly1453Arg)
c.4348G>C (p.Gly1450Arg)
c.2686G>C (p.Gly896Arg)
Xg.108687517G>TCA413854020COL4A5c.4351G>T (p.Gly1451Ter)
c.4333G>T (p.Gly1445Ter)
n.845G>T
c.147G>T
c.4342G>T (p.Gly1448Ter)
c.4027G>T (p.Gly1343Ter)
c.1924G>T (p.Gly642Ter)
c.4366G>T (p.Gly1456Ter)
c.4357G>T (p.Gly1453Ter)
c.4348G>T (p.Gly1450Ter)
c.2686G>T (p.Gly896Ter)
Xg.108687518G>ACA413854022COL4A5c.4352G>A (p.Gly1451Glu)
c.4334G>A (p.Gly1445Glu)
n.846G>A
c.148G>A
c.4343G>A (p.Gly1448Glu)
c.4028G>A (p.Gly1343Glu)
c.1925G>A (p.Gly642Glu)
c.4367G>A (p.Gly1456Glu)
c.4358G>A (p.Gly1453Glu)
c.4349G>A (p.Gly1450Glu)
c.2687G>A (p.Gly896Glu)
 ClinVar
Xg.108687518G>CCA413854024COL4A5c.4352G>C (p.Gly1451Ala)
c.4334G>C (p.Gly1445Ala)
n.846G>C
c.148G>C
c.4343G>C (p.Gly1448Ala)
c.4028G>C (p.Gly1343Ala)
c.1925G>C (p.Gly642Ala)
c.4367G>C (p.Gly1456Ala)
c.4358G>C (p.Gly1453Ala)
c.4349G>C (p.Gly1450Ala)
c.2687G>C (p.Gly896Ala)
Xg.108687518G>TCA413854026COL4A5c.4352G>T (p.Gly1451Val)
c.4334G>T (p.Gly1445Val)
n.846G>T
c.148G>T
c.4343G>T (p.Gly1448Val)
c.4028G>T (p.Gly1343Val)
c.1925G>T (p.Gly642Val)
c.4367G>T (p.Gly1456Val)
c.4358G>T (p.Gly1453Val)
c.4349G>T (p.Gly1450Val)
c.2687G>T (p.Gly896Val)
Xg.108687519A=CA2450719234COL4A5c.4353A= (p.Gly1451=)
c.4335A= (p.Gly1445=)
n.847A=
c.149A=
c.4344A= (p.Gly1448=)
c.4029A= (p.Gly1343=)
c.1926A= (p.Gly642=)
c.4368A= (p.Gly1456=)
c.4359A= (p.Gly1453=)
c.4350A= (p.Gly1450=)
c.2688A= (p.Gly896=)
Xg.108687519A>CCA517924453COL4A5c.4353A>C (p.Gly1451=)
c.4335A>C (p.Gly1445=)
n.847A>C
c.149A>C
c.4344A>C (p.Gly1448=)
c.4029A>C (p.Gly1343=)
c.1926A>C (p.Gly642=)
c.4368A>C (p.Gly1456=)
c.4359A>C (p.Gly1453=)
c.4350A>C (p.Gly1450=)
c.2688A>C (p.Gly896=)
Xg.108687519A>GCA517924455COL4A5c.4353A>G (p.Gly1451=)
c.4335A>G (p.Gly1445=)
n.847A>G
c.149A>G
c.4344A>G (p.Gly1448=)
c.4029A>G (p.Gly1343=)
c.1926A>G (p.Gly642=)
c.4368A>G (p.Gly1456=)
c.4359A>G (p.Gly1453=)
c.4350A>G (p.Gly1450=)
c.2688A>G (p.Gly896=)
 ClinVar gnomAD v4
Xg.108687519A>TCA10489348COL4A5c.4353A>T (p.Gly1451=)
c.4335A>T (p.Gly1445=)
n.847A>T
c.149A>T
c.4344A>T (p.Gly1448=)
c.4029A>T (p.Gly1343=)
c.1926A>T (p.Gly642=)
c.4368A>T (p.Gly1456=)
c.4359A>T (p.Gly1453=)
c.4350A>T (p.Gly1450=)
c.2688A>T (p.Gly896=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108687520T>ACA413854029COL4A5c.4354T>A (p.Leu1452Met)
c.4336T>A (p.Leu1446Met)
n.848T>A
c.150T>A
c.4345T>A (p.Leu1449Met)
c.4030T>A (p.Leu1344Met)
c.1927T>A (p.Leu643Met)
c.4369T>A (p.Leu1457Met)
c.4360T>A (p.Leu1454Met)
c.4351T>A (p.Leu1451Met)
c.2689T>A (p.Leu897Met)
Xg.108687520T>CCA517924457COL4A5c.4354T>C (p.Leu1452=)
c.4336T>C (p.Leu1446=)
n.848T>C
c.150T>C
c.4345T>C (p.Leu1449=)
c.4030T>C (p.Leu1344=)
c.1927T>C (p.Leu643=)
c.4369T>C (p.Leu1457=)
c.4360T>C (p.Leu1454=)
c.4351T>C (p.Leu1451=)
c.2689T>C (p.Leu897=)
Xg.108687520T>GCA413854031COL4A5c.4354T>G (p.Leu1452Val)
c.4336T>G (p.Leu1446Val)
n.848T>G
c.150T>G
c.4345T>G (p.Leu1449Val)
c.4030T>G (p.Leu1344Val)
c.1927T>G (p.Leu643Val)
c.4369T>G (p.Leu1457Val)
c.4360T>G (p.Leu1454Val)
c.4351T>G (p.Leu1451Val)
c.2689T>G (p.Leu897Val)
 dbSNP gnomAD v4
Xg.108687520T=CA2450719235COL4A5c.4354T= (p.Leu1452=)
c.4336T= (p.Leu1446=)
n.848T=
c.150T=
c.4345T= (p.Leu1449=)
c.4030T= (p.Leu1344=)
c.1927T= (p.Leu643=)
c.4369T= (p.Leu1457=)
c.4360T= (p.Leu1454=)
c.4351T= (p.Leu1451=)
c.2689T= (p.Leu897=)
Xg.108687521T>ACA413854033COL4A5c.4355T>A (p.Leu1452Ter)
c.4337T>A (p.Leu1446Ter)
n.849T>A
c.151T>A
c.4346T>A (p.Leu1449Ter)
c.4031T>A (p.Leu1344Ter)
c.1928T>A (p.Leu643Ter)
c.4370T>A (p.Leu1457Ter)
c.4361T>A (p.Leu1454Ter)
c.4352T>A (p.Leu1451Ter)
c.2690T>A (p.Leu897Ter)
Xg.108687521T>CCA413854035COL4A5c.4355T>C (p.Leu1452Ser)
c.4337T>C (p.Leu1446Ser)
n.849T>C
c.151T>C
c.4346T>C (p.Leu1449Ser)
c.4031T>C (p.Leu1344Ser)
c.1928T>C (p.Leu643Ser)
c.4370T>C (p.Leu1457Ser)
c.4361T>C (p.Leu1454Ser)
c.4352T>C (p.Leu1451Ser)
c.2690T>C (p.Leu897Ser)
 gnomAD v4
Xg.108687521T>GCA413854038COL4A5c.4355T>G (p.Leu1452Trp)
c.4337T>G (p.Leu1446Trp)
n.849T>G
c.151T>G
c.4346T>G (p.Leu1449Trp)
c.4031T>G (p.Leu1344Trp)
c.1928T>G (p.Leu643Trp)
c.4370T>G (p.Leu1457Trp)
c.4361T>G (p.Leu1454Trp)
c.4352T>G (p.Leu1451Trp)
c.2690T>G (p.Leu897Trp)
Xg.108687522G>ACA517924461COL4A5c.4356G>A (p.Leu1452=)
c.4338G>A (p.Leu1446=)
n.850G>A
c.152G>A
c.4347G>A (p.Leu1449=)
c.4032G>A (p.Leu1344=)
c.1929G>A (p.Leu643=)
c.4371G>A (p.Leu1457=)
c.4362G>A (p.Leu1454=)
c.4353G>A (p.Leu1451=)
c.2691G>A (p.Leu897=)
Xg.108687522G>CCA413854041COL4A5c.4356G>C (p.Leu1452Phe)
c.4338G>C (p.Leu1446Phe)
n.850G>C
c.152G>C
c.4347G>C (p.Leu1449Phe)
c.4032G>C (p.Leu1344Phe)
c.1929G>C (p.Leu643Phe)
c.4371G>C (p.Leu1457Phe)
c.4362G>C (p.Leu1454Phe)
c.4353G>C (p.Leu1451Phe)
c.2691G>C (p.Leu897Phe)
Xg.108687522G>TCA413854040COL4A5c.4356G>T (p.Leu1452Phe)
c.4338G>T (p.Leu1446Phe)
n.850G>T
c.152G>T
c.4347G>T (p.Leu1449Phe)
c.4032G>T (p.Leu1344Phe)
c.1929G>T (p.Leu643Phe)
c.4371G>T (p.Leu1457Phe)
c.4362G>T (p.Leu1454Phe)
c.4353G>T (p.Leu1451Phe)
c.2691G>T (p.Leu897Phe)
Xg.108687523C>ACA413854044COL4A5c.4357C>A (p.Gln1453Lys)
c.4339C>A (p.Gln1447Lys)
n.851C>A
c.153C>A
c.4348C>A (p.Gln1450Lys)
c.4033C>A (p.Gln1345Lys)
c.1930C>A (p.Gln644Lys)
c.4372C>A (p.Gln1458Lys)
c.4363C>A (p.Gln1455Lys)
c.4354C>A (p.Gln1452Lys)
c.2692C>A (p.Gln898Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108687523C=CA2450719237COL4A5c.4357C= (p.Gln1453=)
c.4339C= (p.Gln1447=)
n.851C=
c.153C=
c.4348C= (p.Gln1450=)
c.4033C= (p.Gln1345=)
c.1930C= (p.Gln644=)
c.4372C= (p.Gln1458=)
c.4363C= (p.Gln1455=)
c.4354C= (p.Gln1452=)
c.2692C= (p.Gln898=)
Xg.108687523C>GCA413854046COL4A5c.4357C>G (p.Gln1453Glu)
c.4339C>G (p.Gln1447Glu)
n.851C>G
c.153C>G
c.4348C>G (p.Gln1450Glu)
c.4033C>G (p.Gln1345Glu)
c.1930C>G (p.Gln644Glu)
c.4372C>G (p.Gln1458Glu)
c.4363C>G (p.Gln1455Glu)
c.4354C>G (p.Gln1452Glu)
c.2692C>G (p.Gln898Glu)
Xg.108687523C>TCA413854047COL4A5c.4357C>T (p.Gln1453Ter)
c.4339C>T (p.Gln1447Ter)
n.851C>T
c.153C>T
c.4348C>T (p.Gln1450Ter)
c.4033C>T (p.Gln1345Ter)
c.1930C>T (p.Gln644Ter)
c.4372C>T (p.Gln1458Ter)
c.4363C>T (p.Gln1455Ter)
c.4354C>T (p.Gln1452Ter)
c.2692C>T (p.Gln898Ter)
Xg.108687524A>CCA413854048COL4A5c.4358A>C (p.Gln1453Pro)
c.4340A>C (p.Gln1447Pro)
n.852A>C
c.154A>C
c.4349A>C (p.Gln1450Pro)
c.4034A>C (p.Gln1345Pro)
c.1931A>C (p.Gln644Pro)
c.4373A>C (p.Gln1458Pro)
c.4364A>C (p.Gln1455Pro)
c.4355A>C (p.Gln1452Pro)
c.2693A>C (p.Gln898Pro)
Xg.108687524A>GCA413854049COL4A5c.4358A>G (p.Gln1453Arg)
c.4340A>G (p.Gln1447Arg)
n.852A>G
c.154A>G
c.4349A>G (p.Gln1450Arg)
c.4034A>G (p.Gln1345Arg)
c.1931A>G (p.Gln644Arg)
c.4373A>G (p.Gln1458Arg)
c.4364A>G (p.Gln1455Arg)
c.4355A>G (p.Gln1452Arg)
c.2693A>G (p.Gln898Arg)
Xg.108687524A>TCA413854052COL4A5c.4358A>T (p.Gln1453Leu)
c.4340A>T (p.Gln1447Leu)
n.852A>T
c.154A>T
c.4349A>T (p.Gln1450Leu)
c.4034A>T (p.Gln1345Leu)
c.1931A>T (p.Gln644Leu)
c.4373A>T (p.Gln1458Leu)
c.4364A>T (p.Gln1455Leu)
c.4355A>T (p.Gln1452Leu)
c.2693A>T (p.Gln898Leu)
Xg.108687525A>CCA413854054COL4A5c.4359A>C (p.Gln1453His)
c.4341A>C (p.Gln1447His)
n.853A>C
c.155A>C
c.4350A>C (p.Gln1450His)
c.4035A>C (p.Gln1345His)
c.1932A>C (p.Gln644His)
c.4374A>C (p.Gln1458His)
c.4365A>C (p.Gln1455His)
c.4356A>C (p.Gln1452His)
c.2694A>C (p.Gln898His)
Xg.108687525A>GCA517924465COL4A5c.4359A>G (p.Gln1453=)
c.4341A>G (p.Gln1447=)
n.853A>G
c.155A>G
c.4350A>G (p.Gln1450=)
c.4035A>G (p.Gln1345=)
c.1932A>G (p.Gln644=)
c.4374A>G (p.Gln1458=)
c.4365A>G (p.Gln1455=)
c.4356A>G (p.Gln1452=)
c.2694A>G (p.Gln898=)
Xg.108687525A>TCA413854056COL4A5c.4359A>T (p.Gln1453His)
c.4341A>T (p.Gln1447His)
n.853A>T
c.155A>T
c.4350A>T (p.Gln1450His)
c.4035A>T (p.Gln1345His)
c.1932A>T (p.Gln644His)
c.4374A>T (p.Gln1458His)
c.4365A>T (p.Gln1455His)
c.4356A>T (p.Gln1452His)
c.2694A>T (p.Gln898His)
Xg.108687526G>ACA259040COL4A5c.4360G>A (p.Gly1454Ser)
c.4342G>A (p.Gly1448Ser)
n.854G>A
c.156G>A
c.4351G>A (p.Gly1451Ser)
c.4036G>A (p.Gly1346Ser)
c.1933G>A (p.Gly645Ser)
c.4375G>A (p.Gly1459Ser)
c.4366G>A (p.Gly1456Ser)
c.4357G>A (p.Gly1453Ser)
c.2695G>A (p.Gly899Ser)
 ClinVar dbSNP
Xg.108687526G>CCA413854059COL4A5c.4360G>C (p.Gly1454Arg)
c.4342G>C (p.Gly1448Arg)
n.854G>C
c.156G>C
c.4351G>C (p.Gly1451Arg)
c.4036G>C (p.Gly1346Arg)
c.1933G>C (p.Gly645Arg)
c.4375G>C (p.Gly1459Arg)
c.4366G>C (p.Gly1456Arg)
c.4357G>C (p.Gly1453Arg)
c.2695G>C (p.Gly899Arg)
 ClinVar gnomAD v4
Xg.108687526G=CA2450719238COL4A5c.4360G= (p.Gly1454=)
c.4342G= (p.Gly1448=)
n.854G=
c.156G=
c.4351G= (p.Gly1451=)
c.4036G= (p.Gly1346=)
c.1933G= (p.Gly645=)
c.4375G= (p.Gly1459=)
c.4366G= (p.Gly1456=)
c.4357G= (p.Gly1453=)
c.2695G= (p.Gly899=)
Xg.108687526G>TCA413854062COL4A5c.4360G>T (p.Gly1454Cys)
c.4342G>T (p.Gly1448Cys)
n.854G>T
c.156G>T
c.4351G>T (p.Gly1451Cys)
c.4036G>T (p.Gly1346Cys)
c.1933G>T (p.Gly645Cys)
c.4375G>T (p.Gly1459Cys)
c.4366G>T (p.Gly1456Cys)
c.4357G>T (p.Gly1453Cys)
c.2695G>T (p.Gly899Cys)
Xg.108687526_108687527delinsAACA645617759COL4A5c.4360_4361delinsAA (p.Gly1454Asn)
c.4342_4343delinsAA (p.Gly1448Asn)
n.854_855delinsAA
c.156_157delinsAA
c.4351_4352delinsAA (p.Gly1451Asn)
c.4036_4037delinsAA (p.Gly1346Asn)
c.1933_1934delinsAA (p.Gly645Asn)
c.4375_4376delinsAA (p.Gly1459Asn)
c.4366_4367delinsAA (p.Gly1456Asn)
c.4357_4358delinsAA (p.Gly1453Asn)
c.2695_2696delinsAA (p.Gly899Asn)
 COSMIC COSMIC
Xg.108687527G>ACA413854063COL4A5c.4361G>A (p.Gly1454Asp)
c.4343G>A (p.Gly1448Asp)
n.855G>A
c.157G>A
c.4352G>A (p.Gly1451Asp)
c.4037G>A (p.Gly1346Asp)
c.1934G>A (p.Gly645Asp)
c.4376G>A (p.Gly1459Asp)
c.4367G>A (p.Gly1456Asp)
c.4358G>A (p.Gly1453Asp)
c.2696G>A (p.Gly899Asp)
Xg.108687527G>CCA413854065COL4A5c.4361G>C (p.Gly1454Ala)
c.4343G>C (p.Gly1448Ala)
n.855G>C
c.157G>C
c.4352G>C (p.Gly1451Ala)
c.4037G>C (p.Gly1346Ala)
c.1934G>C (p.Gly645Ala)
c.4376G>C (p.Gly1459Ala)
c.4367G>C (p.Gly1456Ala)
c.4358G>C (p.Gly1453Ala)
c.2696G>C (p.Gly899Ala)
Xg.108687527G=CA2450719241COL4A5c.4361G= (p.Gly1454=)
c.4343G= (p.Gly1448=)
n.855G=
c.157G=
c.4352G= (p.Gly1451=)
c.4037G= (p.Gly1346=)
c.1934G= (p.Gly645=)
c.4376G= (p.Gly1459=)
c.4367G= (p.Gly1456=)
c.4358G= (p.Gly1453=)
c.2696G= (p.Gly899=)
Xg.108687527G>TCA413854067COL4A5c.4361G>T (p.Gly1454Val)
c.4343G>T (p.Gly1448Val)
n.855G>T
c.157G>T
c.4352G>T (p.Gly1451Val)
c.4037G>T (p.Gly1346Val)
c.1934G>T (p.Gly645Val)
c.4376G>T (p.Gly1459Val)
c.4367G>T (p.Gly1456Val)
c.4358G>T (p.Gly1453Val)
c.2696G>T (p.Gly899Val)
Xg.108687528T>ACA517924470COL4A5c.4362T>A (p.Gly1454=)
c.4344T>A (p.Gly1448=)
n.856T>A
c.158T>A
c.4353T>A (p.Gly1451=)
c.4038T>A (p.Gly1346=)
c.1935T>A (p.Gly645=)
c.4377T>A (p.Gly1459=)
c.4368T>A (p.Gly1456=)
c.4359T>A (p.Gly1453=)
c.2697T>A (p.Gly899=)
Xg.108687528T>CCA517924472COL4A5c.4362T>C (p.Gly1454=)
c.4344T>C (p.Gly1448=)
n.856T>C
c.158T>C
c.4353T>C (p.Gly1451=)
c.4038T>C (p.Gly1346=)
c.1935T>C (p.Gly645=)
c.4377T>C (p.Gly1459=)
c.4368T>C (p.Gly1456=)
c.4359T>C (p.Gly1453=)
c.2697T>C (p.Gly899=)
Xg.108687528T>GCA517924471COL4A5c.4362T>G (p.Gly1454=)
c.4344T>G (p.Gly1448=)
n.856T>G
c.158T>G
c.4353T>G (p.Gly1451=)
c.4038T>G (p.Gly1346=)
c.1935T>G (p.Gly645=)
c.4377T>G (p.Gly1459=)
c.4368T>G (p.Gly1456=)
c.4359T>G (p.Gly1453=)
c.2697T>G (p.Gly899=)
Xg.108687528dupCA259044COL4A5c.4362dup (p.Pro1455SerfsTer?)
c.4344dup (p.Pro1449SerfsTer?)
n.856dup
c.158dup
c.4353dup (p.Pro1452SerfsTer?)
c.4038dup (p.Pro1347SerfsTer?)
c.1935dup (p.Pro646SerfsTer?)
c.4377dup (p.Pro1460SerfsTer?)
c.4368dup (p.Pro1457SerfsTer?)
c.4359dup (p.Pro1454SerfsTer?)
c.2697dup (p.Pro900SerfsTer?)
 dbSNP
Xg.108687528_108687529delinsTCCA2450719242COL4A5c.4362_4363delinsTC (p.Gly1454=)
c.4344_4345delinsTC (p.Gly1448=)
n.856_857delinsTC
c.158_159delinsTC
c.4353_4354delinsTC (p.Gly1451=)
c.4038_4039delinsTC (p.Gly1346=)
c.1935_1936delinsTC (p.Gly645=)
c.4377_4378delinsTC (p.Gly1459=)
c.4368_4369delinsTC (p.Gly1456=)
c.4359_4360delinsTC (p.Gly1453=)
c.2697_2698delinsTC (p.Gly899=)
Xg.108687529C>ACA413854074COL4A5c.4363C>A (p.Pro1455Thr)
c.4345C>A (p.Pro1449Thr)
n.857C>A
c.159C>A
c.4354C>A (p.Pro1452Thr)
c.4039C>A (p.Pro1347Thr)
c.1936C>A (p.Pro646Thr)
c.4378C>A (p.Pro1460Thr)
c.4369C>A (p.Pro1457Thr)
c.4360C>A (p.Pro1454Thr)
c.2698C>A (p.Pro900Thr)
Xg.108687529C>GCA413854070COL4A5c.4363C>G (p.Pro1455Ala)
c.4345C>G (p.Pro1449Ala)
n.857C>G
c.159C>G
c.4354C>G (p.Pro1452Ala)
c.4039C>G (p.Pro1347Ala)
c.1936C>G (p.Pro646Ala)
c.4378C>G (p.Pro1460Ala)
c.4369C>G (p.Pro1457Ala)
c.4360C>G (p.Pro1454Ala)
c.2698C>G (p.Pro900Ala)
Xg.108687529C>TCA413854072COL4A5c.4363C>T (p.Pro1455Ser)
c.4345C>T (p.Pro1449Ser)
n.857C>T
c.159C>T
c.4354C>T (p.Pro1452Ser)
c.4039C>T (p.Pro1347Ser)
c.1936C>T (p.Pro646Ser)
c.4378C>T (p.Pro1460Ser)
c.4369C>T (p.Pro1457Ser)
c.4360C>T (p.Pro1454Ser)
c.2698C>T (p.Pro900Ser)
 gnomAD v4
Xg.108687533delCA259045COL4A5c.4367del (p.Pro1456GlnfsTer?)
c.4349del (p.Pro1450GlnfsTer?)
n.861del
c.163del
c.4358del (p.Pro1453GlnfsTer?)
c.4043del (p.Pro1348GlnfsTer?)
c.1940del (p.Pro647GlnfsTer?)
c.4382del (p.Pro1461GlnfsTer?)
c.4373del (p.Pro1458GlnfsTer?)
c.4364del (p.Pro1455GlnfsTer?)
c.2702del (p.Pro901GlnfsTer?)
 dbSNP
Xg.108687530C>ACA413854076COL4A5c.4364C>A (p.Pro1455His)
c.4346C>A (p.Pro1449His)
n.858C>A
c.160C>A
c.4355C>A (p.Pro1452His)
c.4040C>A (p.Pro1347His)
c.1937C>A (p.Pro646His)
c.4379C>A (p.Pro1460His)
c.4370C>A (p.Pro1457His)
c.4361C>A (p.Pro1454His)
c.2699C>A (p.Pro900His)
Xg.108687530C=CA2450719244COL4A5c.4364C= (p.Pro1455=)
c.4346C= (p.Pro1449=)
n.858C=
c.160C=
c.4355C= (p.Pro1452=)
c.4040C= (p.Pro1347=)
c.1937C= (p.Pro646=)
c.4379C= (p.Pro1460=)
c.4370C= (p.Pro1457=)
c.4361C= (p.Pro1454=)
c.2699C= (p.Pro900=)
Xg.108687530C>GCA413854078COL4A5c.4364C>G (p.Pro1455Arg)
c.4346C>G (p.Pro1449Arg)
n.858C>G
c.160C>G
c.4355C>G (p.Pro1452Arg)
c.4040C>G (p.Pro1347Arg)
c.1937C>G (p.Pro646Arg)
c.4379C>G (p.Pro1460Arg)
c.4370C>G (p.Pro1457Arg)
c.4361C>G (p.Pro1454Arg)
c.2699C>G (p.Pro900Arg)
Xg.108687530C>TCA413854080COL4A5c.4364C>T (p.Pro1455Leu)
c.4346C>T (p.Pro1449Leu)
n.858C>T
c.160C>T
c.4355C>T (p.Pro1452Leu)
c.4040C>T (p.Pro1347Leu)
c.1937C>T (p.Pro646Leu)
c.4379C>T (p.Pro1460Leu)
c.4370C>T (p.Pro1457Leu)
c.4361C>T (p.Pro1454Leu)
c.2699C>T (p.Pro900Leu)
 ClinVar dbSNP gnomAD v2
Xg.108687531C>ACA517924478COL4A5c.4365C>A (p.Pro1455=)
c.4347C>A (p.Pro1449=)
n.859C>A
c.161C>A
c.4356C>A (p.Pro1452=)
c.4041C>A (p.Pro1347=)
c.1938C>A (p.Pro646=)
c.4380C>A (p.Pro1460=)
c.4371C>A (p.Pro1457=)
c.4362C>A (p.Pro1454=)
c.2700C>A (p.Pro900=)
Xg.108687531C>GCA517924479COL4A5c.4365C>G (p.Pro1455=)
c.4347C>G (p.Pro1449=)
n.859C>G
c.161C>G
c.4356C>G (p.Pro1452=)
c.4041C>G (p.Pro1347=)
c.1938C>G (p.Pro646=)
c.4380C>G (p.Pro1460=)
c.4371C>G (p.Pro1457=)
c.4362C>G (p.Pro1454=)
c.2700C>G (p.Pro900=)
Xg.108687531C>TCA517924480COL4A5c.4365C>T (p.Pro1455=)
c.4347C>T (p.Pro1449=)
n.859C>T
c.161C>T
c.4356C>T (p.Pro1452=)
c.4041C>T (p.Pro1347=)
c.1938C>T (p.Pro646=)
c.4380C>T (p.Pro1460=)
c.4371C>T (p.Pro1457=)
c.4362C>T (p.Pro1454=)
c.2700C>T (p.Pro900=)
Xg.108687532C>ACA413854081COL4A5c.4366C>A (p.Pro1456Thr)
c.4348C>A (p.Pro1450Thr)
n.860C>A
c.162C>A
c.4357C>A (p.Pro1453Thr)
c.4042C>A (p.Pro1348Thr)
c.1939C>A (p.Pro647Thr)
c.4381C>A (p.Pro1461Thr)
c.4372C>A (p.Pro1458Thr)
c.4363C>A (p.Pro1455Thr)
c.2701C>A (p.Pro901Thr)
Xg.108687532C>GCA413854083COL4A5c.4366C>G (p.Pro1456Ala)
c.4348C>G (p.Pro1450Ala)
n.860C>G
c.162C>G
c.4357C>G (p.Pro1453Ala)
c.4042C>G (p.Pro1348Ala)
c.1939C>G (p.Pro647Ala)
c.4381C>G (p.Pro1461Ala)
c.4372C>G (p.Pro1458Ala)
c.4363C>G (p.Pro1455Ala)
c.2701C>G (p.Pro901Ala)
 COSMIC COSMIC
Xg.108687532C>TCA413854085COL4A5c.4366C>T (p.Pro1456Ser)
c.4348C>T (p.Pro1450Ser)
n.860C>T
c.162C>T
c.4357C>T (p.Pro1453Ser)
c.4042C>T (p.Pro1348Ser)
c.1939C>T (p.Pro647Ser)
c.4381C>T (p.Pro1461Ser)
c.4372C>T (p.Pro1458Ser)
c.4363C>T (p.Pro1455Ser)
c.2701C>T (p.Pro901Ser)
Xg.108687533C>ACA413854090COL4A5c.4367C>A (p.Pro1456Gln)
c.4349C>A (p.Pro1450Gln)
n.861C>A
c.163C>A
c.4358C>A (p.Pro1453Gln)
c.4043C>A (p.Pro1348Gln)
c.1940C>A (p.Pro647Gln)
c.4382C>A (p.Pro1461Gln)
c.4373C>A (p.Pro1458Gln)
c.4364C>A (p.Pro1455Gln)
c.2702C>A (p.Pro901Gln)
Xg.108687533C>GCA413854089COL4A5c.4367C>G (p.Pro1456Arg)
c.4349C>G (p.Pro1450Arg)
n.861C>G
c.163C>G
c.4358C>G (p.Pro1453Arg)
c.4043C>G (p.Pro1348Arg)
c.1940C>G (p.Pro647Arg)
c.4382C>G (p.Pro1461Arg)
c.4373C>G (p.Pro1458Arg)
c.4364C>G (p.Pro1455Arg)
c.2702C>G (p.Pro901Arg)
 gnomAD v4
Xg.108687533C>TCA413854087COL4A5c.4367C>T (p.Pro1456Leu)
c.4349C>T (p.Pro1450Leu)
n.861C>T
c.163C>T
c.4358C>T (p.Pro1453Leu)
c.4043C>T (p.Pro1348Leu)
c.1940C>T (p.Pro647Leu)
c.4382C>T (p.Pro1461Leu)
c.4373C>T (p.Pro1458Leu)
c.4364C>T (p.Pro1455Leu)
c.2702C>T (p.Pro901Leu)
Xg.108687534A>CCA517924486COL4A5c.4368A>C (p.Pro1456=)
c.4350A>C (p.Pro1450=)
n.862A>C
c.164A>C
c.4359A>C (p.Pro1453=)
c.4044A>C (p.Pro1348=)
c.1941A>C (p.Pro647=)
c.4383A>C (p.Pro1461=)
c.4374A>C (p.Pro1458=)
c.4365A>C (p.Pro1455=)
c.2703A>C (p.Pro901=)
 ClinVar dbSNP
Xg.108687534A>GCA517924487COL4A5c.4368A>G (p.Pro1456=)
c.4350A>G (p.Pro1450=)
n.862A>G
c.164A>G
c.4359A>G (p.Pro1453=)
c.4044A>G (p.Pro1348=)
c.1941A>G (p.Pro647=)
c.4383A>G (p.Pro1461=)
c.4374A>G (p.Pro1458=)
c.4365A>G (p.Pro1455=)
c.2703A>G (p.Pro901=)
Xg.108687534A>TCA517924488COL4A5c.4368A>T (p.Pro1456=)
c.4350A>T (p.Pro1450=)
n.862A>T
c.164A>T
c.4359A>T (p.Pro1453=)
c.4044A>T (p.Pro1348=)
c.1941A>T (p.Pro647=)
c.4383A>T (p.Pro1461=)
c.4374A>T (p.Pro1458=)
c.4365A>T (p.Pro1455=)
c.2703A>T (p.Pro901=)
 gnomAD v4
Xg.108687535G>ACA259033COL4A5c.4369G>A (p.Gly1457Ser)
c.4351G>A (p.Gly1451Ser)
n.863G>A
c.165G>A
c.4360G>A (p.Gly1454Ser)
c.4045G>A (p.Gly1349Ser)
c.1942G>A (p.Gly648Ser)
c.4384G>A (p.Gly1462Ser)
c.4375G>A (p.Gly1459Ser)
c.4366G>A (p.Gly1456Ser)
c.2704G>A (p.Gly902Ser)
 ClinVar dbSNP
Xg.108687535G>CCA413854092COL4A5c.4369G>C (p.Gly1457Arg)
c.4351G>C (p.Gly1451Arg)
n.863G>C
c.165G>C
c.4360G>C (p.Gly1454Arg)
c.4045G>C (p.Gly1349Arg)
c.1942G>C (p.Gly648Arg)
c.4384G>C (p.Gly1462Arg)
c.4375G>C (p.Gly1459Arg)
c.4366G>C (p.Gly1456Arg)
c.2704G>C (p.Gly902Arg)
Xg.108687535G=CA2450719245COL4A5c.4369G= (p.Gly1457=)
c.4351G= (p.Gly1451=)
n.863G=
c.165G=
c.4360G= (p.Gly1454=)
c.4045G= (p.Gly1349=)
c.1942G= (p.Gly648=)
c.4384G= (p.Gly1462=)
c.4375G= (p.Gly1459=)
c.4366G= (p.Gly1456=)
c.2704G= (p.Gly902=)
Xg.108687535G>TCA413854094COL4A5c.4369G>T (p.Gly1457Cys)
c.4351G>T (p.Gly1451Cys)
n.863G>T
c.165G>T
c.4360G>T (p.Gly1454Cys)
c.4045G>T (p.Gly1349Cys)
c.1942G>T (p.Gly648Cys)
c.4384G>T (p.Gly1462Cys)
c.4375G>T (p.Gly1459Cys)
c.4366G>T (p.Gly1456Cys)
c.2704G>T (p.Gly902Cys)
Xg.108687536G>ACA413854096COL4A5c.4370G>A (p.Gly1457Asp)
c.4352G>A (p.Gly1451Asp)
n.864G>A
c.166G>A
c.4361G>A (p.Gly1454Asp)
c.4046G>A (p.Gly1349Asp)
c.1943G>A (p.Gly648Asp)
c.4385G>A (p.Gly1462Asp)
c.4376G>A (p.Gly1459Asp)
c.4367G>A (p.Gly1456Asp)
c.2705G>A (p.Gly902Asp)
 gnomAD v4
Xg.108687536G>CCA413854097COL4A5c.4370G>C (p.Gly1457Ala)
c.4352G>C (p.Gly1451Ala)
n.864G>C
c.166G>C
c.4361G>C (p.Gly1454Ala)
c.4046G>C (p.Gly1349Ala)
c.1943G>C (p.Gly648Ala)
c.4385G>C (p.Gly1462Ala)
c.4376G>C (p.Gly1459Ala)
c.4367G>C (p.Gly1456Ala)
c.2705G>C (p.Gly902Ala)
Xg.108687536G=CA2450719248COL4A5c.4370G= (p.Gly1457=)
c.4352G= (p.Gly1451=)
n.864G=
c.166G=
c.4361G= (p.Gly1454=)
c.4046G= (p.Gly1349=)
c.1943G= (p.Gly648=)
c.4385G= (p.Gly1462=)
c.4376G= (p.Gly1459=)
c.4367G= (p.Gly1456=)
c.2705G= (p.Gly902=)
Xg.108687536G>TCA413854099COL4A5c.4370G>T (p.Gly1457Val)
c.4352G>T (p.Gly1451Val)
n.864G>T
c.166G>T
c.4361G>T (p.Gly1454Val)
c.4046G>T (p.Gly1349Val)
c.1943G>T (p.Gly648Val)
c.4385G>T (p.Gly1462Val)
c.4376G>T (p.Gly1459Val)
c.4367G>T (p.Gly1456Val)
c.2705G>T (p.Gly902Val)
Xg.108687537T>ACA517924495COL4A5c.4371T>A (p.Gly1457=)
c.4353T>A (p.Gly1451=)
n.865T>A
c.167T>A
c.4362T>A (p.Gly1454=)
c.4047T>A (p.Gly1349=)
c.1944T>A (p.Gly648=)
c.4386T>A (p.Gly1462=)
c.4377T>A (p.Gly1459=)
c.4368T>A (p.Gly1456=)
c.2706T>A (p.Gly902=)
Xg.108687537T>CCA517924496COL4A5c.4371T>C (p.Gly1457=)
c.4353T>C (p.Gly1451=)
n.865T>C
c.167T>C
c.4362T>C (p.Gly1454=)
c.4047T>C (p.Gly1349=)
c.1944T>C (p.Gly648=)
c.4386T>C (p.Gly1462=)
c.4377T>C (p.Gly1459=)
c.4368T>C (p.Gly1456=)
c.2706T>C (p.Gly902=)
 gnomAD v4
Xg.108687537T>GCA517924497COL4A5c.4371T>G (p.Gly1457=)
c.4353T>G (p.Gly1451=)
n.865T>G
c.167T>G
c.4362T>G (p.Gly1454=)
c.4047T>G (p.Gly1349=)
c.1944T>G (p.Gly648=)
c.4386T>G (p.Gly1462=)
c.4377T>G (p.Gly1459=)
c.4368T>G (p.Gly1456=)
c.2706T>G (p.Gly902=)
 ClinVar gnomAD v4
Xg.108687537T=CA2450719249COL4A5c.4371T= (p.Gly1457=)
c.4353T= (p.Gly1451=)
n.865T=
c.167T=
c.4362T= (p.Gly1454=)
c.4047T= (p.Gly1349=)
c.1944T= (p.Gly648=)
c.4386T= (p.Gly1462=)
c.4377T= (p.Gly1459=)
c.4368T= (p.Gly1456=)
c.2706T= (p.Gly902=)
Xg.108687538C>ACA413854101COL4A5c.4372C>A (p.Pro1458Thr)
c.4354C>A (p.Pro1452Thr)
n.866C>A
c.168C>A
c.4363C>A (p.Pro1455Thr)
c.4048C>A (p.Pro1350Thr)
c.1945C>A (p.Pro649Thr)
c.4387C>A (p.Pro1463Thr)
c.4378C>A (p.Pro1460Thr)
c.4369C>A (p.Pro1457Thr)
c.2707C>A (p.Pro903Thr)
Xg.108687538C=CA2450719252COL4A5c.4372C= (p.Pro1458=)
c.4354C= (p.Pro1452=)
n.866C=
c.168C=
c.4363C= (p.Pro1455=)
c.4048C= (p.Pro1350=)
c.1945C= (p.Pro649=)
c.4387C= (p.Pro1463=)
c.4378C= (p.Pro1460=)
c.4369C= (p.Pro1457=)
c.2707C= (p.Pro903=)
Xg.108687538C>GCA413854103COL4A5c.4372C>G (p.Pro1458Ala)
c.4354C>G (p.Pro1452Ala)
n.866C>G
c.168C>G
c.4363C>G (p.Pro1455Ala)
c.4048C>G (p.Pro1350Ala)
c.1945C>G (p.Pro649Ala)
c.4387C>G (p.Pro1463Ala)
c.4378C>G (p.Pro1460Ala)
c.4369C>G (p.Pro1457Ala)
c.2707C>G (p.Pro903Ala)
Xg.108687538C>TCA413854102COL4A5c.4372C>T (p.Pro1458Ser)
c.4354C>T (p.Pro1452Ser)
n.866C>T
c.168C>T
c.4363C>T (p.Pro1455Ser)
c.4048C>T (p.Pro1350Ser)
c.1945C>T (p.Pro649Ser)
c.4387C>T (p.Pro1463Ser)
c.4378C>T (p.Pro1460Ser)
c.4369C>T (p.Pro1457Ser)
c.2707C>T (p.Pro903Ser)
 ClinVar dbSNP gnomAD v4
Xg.108687542dupCA2450719251COL4A5c.4376dup (p.Gly1460TrpfsTer?)
c.4358dup (p.Gly1454TrpfsTer?)
n.870dup
c.172dup
c.4367dup (p.Gly1457TrpfsTer?)
c.4052dup (p.Gly1352TrpfsTer?)
c.1949dup (p.Gly651TrpfsTer?)
c.4391dup (p.Gly1465TrpfsTer?)
c.4382dup (p.Gly1462TrpfsTer?)
c.4373dup (p.Gly1459TrpfsTer?)
c.2711dup (p.Gly905TrpfsTer?)
 ClinVar dbSNP
Xg.108687542delCA2579677161COL4A5c.4376del (p.Pro1459LeufsTer?)
c.4358del (p.Pro1453LeufsTer?)
n.870del
c.172del
c.4367del (p.Pro1456LeufsTer?)
c.4052del (p.Pro1351LeufsTer?)
c.1949del (p.Pro650LeufsTer?)
c.4391del (p.Pro1464LeufsTer?)
c.4382del (p.Pro1461LeufsTer?)
c.4373del (p.Pro1458LeufsTer?)
c.2711del (p.Pro904LeufsTer?)
Xg.108687539C>ACA413854104COL4A5c.4373C>A (p.Pro1458His)
c.4355C>A (p.Pro1452His)
n.867C>A
c.169C>A
c.4364C>A (p.Pro1455His)
c.4049C>A (p.Pro1350His)
c.1946C>A (p.Pro649His)
c.4388C>A (p.Pro1463His)
c.4379C>A (p.Pro1460His)
c.4370C>A (p.Pro1457His)
c.2708C>A (p.Pro903His)
Xg.108687539C>GCA413854105COL4A5c.4373C>G (p.Pro1458Arg)
c.4355C>G (p.Pro1452Arg)
n.867C>G
c.169C>G
c.4364C>G (p.Pro1455Arg)
c.4049C>G (p.Pro1350Arg)
c.1946C>G (p.Pro649Arg)
c.4388C>G (p.Pro1463Arg)
c.4379C>G (p.Pro1460Arg)
c.4370C>G (p.Pro1457Arg)
c.2708C>G (p.Pro903Arg)
Xg.108687539C>TCA413854106COL4A5c.4373C>T (p.Pro1458Leu)
c.4355C>T (p.Pro1452Leu)
n.867C>T
c.169C>T
c.4364C>T (p.Pro1455Leu)
c.4049C>T (p.Pro1350Leu)
c.1946C>T (p.Pro649Leu)
c.4388C>T (p.Pro1463Leu)
c.4379C>T (p.Pro1460Leu)
c.4370C>T (p.Pro1457Leu)
c.2708C>T (p.Pro903Leu)
 gnomAD v4
Xg.108687540C>ACA517924504COL4A5c.4374C>A (p.Pro1458=)
c.4356C>A (p.Pro1452=)
n.868C>A
c.170C>A
c.4365C>A (p.Pro1455=)
c.4050C>A (p.Pro1350=)
c.1947C>A (p.Pro649=)
c.4389C>A (p.Pro1463=)
c.4380C>A (p.Pro1460=)
c.4371C>A (p.Pro1457=)
c.2709C>A (p.Pro903=)
Xg.108687540C>GCA517924508COL4A5c.4374C>G (p.Pro1458=)
c.4356C>G (p.Pro1452=)
n.868C>G
c.170C>G
c.4365C>G (p.Pro1455=)
c.4050C>G (p.Pro1350=)
c.1947C>G (p.Pro649=)
c.4389C>G (p.Pro1463=)
c.4380C>G (p.Pro1460=)
c.4371C>G (p.Pro1457=)
c.2709C>G (p.Pro903=)
Xg.108687540C>TCA517924505COL4A5c.4374C>T (p.Pro1458=)
c.4356C>T (p.Pro1452=)
n.868C>T
c.170C>T
c.4365C>T (p.Pro1455=)
c.4050C>T (p.Pro1350=)
c.1947C>T (p.Pro649=)
c.4389C>T (p.Pro1463=)
c.4380C>T (p.Pro1460=)
c.4371C>T (p.Pro1457=)
c.2709C>T (p.Pro903=)
 ClinVar dbSNP
Xg.108687541C>ACA413854107COL4A5c.4375C>A (p.Pro1459Thr)
c.4357C>A (p.Pro1453Thr)
n.869C>A
c.171C>A
c.4366C>A (p.Pro1456Thr)
c.4051C>A (p.Pro1351Thr)
c.1948C>A (p.Pro650Thr)
c.4390C>A (p.Pro1464Thr)
c.4381C>A (p.Pro1461Thr)
c.4372C>A (p.Pro1458Thr)
c.2710C>A (p.Pro904Thr)
 COSMIC COSMIC
Xg.108687541C>GCA413854108COL4A5c.4375C>G (p.Pro1459Ala)
c.4357C>G (p.Pro1453Ala)
n.869C>G
c.171C>G
c.4366C>G (p.Pro1456Ala)
c.4051C>G (p.Pro1351Ala)
c.1948C>G (p.Pro650Ala)
c.4390C>G (p.Pro1464Ala)
c.4381C>G (p.Pro1461Ala)
c.4372C>G (p.Pro1458Ala)
c.2710C>G (p.Pro904Ala)
Xg.108687541C>TCA413854109COL4A5c.4375C>T (p.Pro1459Ser)
c.4357C>T (p.Pro1453Ser)
n.869C>T
c.171C>T
c.4366C>T (p.Pro1456Ser)
c.4051C>T (p.Pro1351Ser)
c.1948C>T (p.Pro650Ser)
c.4390C>T (p.Pro1464Ser)
c.4381C>T (p.Pro1461Ser)
c.4372C>T (p.Pro1458Ser)
c.2710C>T (p.Pro904Ser)
Xg.108687542C>ACA413854111COL4A5c.4376C>A (p.Pro1459His)
c.4358C>A (p.Pro1453His)
n.870C>A
c.172C>A
c.4367C>A (p.Pro1456His)
c.4052C>A (p.Pro1351His)
c.1949C>A (p.Pro650His)
c.4391C>A (p.Pro1464His)
c.4382C>A (p.Pro1461His)
c.4373C>A (p.Pro1458His)
c.2711C>A (p.Pro904His)
Xg.108687542C>GCA413854112COL4A5c.4376C>G (p.Pro1459Arg)
c.4358C>G (p.Pro1453Arg)
n.870C>G
c.172C>G
c.4367C>G (p.Pro1456Arg)
c.4052C>G (p.Pro1351Arg)
c.1949C>G (p.Pro650Arg)
c.4391C>G (p.Pro1464Arg)
c.4382C>G (p.Pro1461Arg)
c.4373C>G (p.Pro1458Arg)
c.2711C>G (p.Pro904Arg)
Xg.108687542C>TCA413854115COL4A5c.4376C>T (p.Pro1459Leu)
c.4358C>T (p.Pro1453Leu)
n.870C>T
c.172C>T
c.4367C>T (p.Pro1456Leu)
c.4052C>T (p.Pro1351Leu)
c.1949C>T (p.Pro650Leu)
c.4391C>T (p.Pro1464Leu)
c.4382C>T (p.Pro1461Leu)
c.4373C>T (p.Pro1458Leu)
c.2711C>T (p.Pro904Leu)
Xg.108687542_108687543delinsCTCA2450719253COL4A5c.4376_4377delinsCT (p.Pro1459=)
c.4358_4359delinsCT (p.Pro1453=)
n.870_871delinsCT
c.172_173delinsCT
c.4367_4368delinsCT (p.Pro1456=)
c.4052_4053delinsCT (p.Pro1351=)
c.1949_1950delinsCT (p.Pro650=)
c.4391_4392delinsCT (p.Pro1464=)
c.4382_4383delinsCT (p.Pro1461=)
c.4373_4374delinsCT (p.Pro1458=)
c.2711_2712delinsCT (p.Pro904=)
Xg.108687543delCA915951311COL4A5c.4377del (p.Gly1460GlufsTer?)
c.4359del (p.Gly1454GlufsTer?)
n.871del
c.173del
c.4368del (p.Gly1457GlufsTer?)
c.4053del (p.Gly1352GlufsTer?)
c.1950del (p.Gly651GlufsTer?)
c.4392del (p.Gly1465GlufsTer?)
c.4383del (p.Gly1462GlufsTer?)
c.4374del (p.Gly1459GlufsTer?)
c.2712del (p.Gly905GlufsTer?)
 ClinVar dbSNP
Xg.108687543T>ACA517924513COL4A5c.4377T>A (p.Pro1459=)
c.4359T>A (p.Pro1453=)
n.871T>A
c.173T>A
c.4368T>A (p.Pro1456=)
c.4053T>A (p.Pro1351=)
c.1950T>A (p.Pro650=)
c.4392T>A (p.Pro1464=)
c.4383T>A (p.Pro1461=)
c.4374T>A (p.Pro1458=)
c.2712T>A (p.Pro904=)
 COSMIC COSMIC
Xg.108687543T>CCA517924515COL4A5c.4377T>C (p.Pro1459=)
c.4359T>C (p.Pro1453=)
n.871T>C
c.173T>C
c.4368T>C (p.Pro1456=)
c.4053T>C (p.Pro1351=)
c.1950T>C (p.Pro650=)
c.4392T>C (p.Pro1464=)
c.4383T>C (p.Pro1461=)
c.4374T>C (p.Pro1458=)
c.2712T>C (p.Pro904=)
Xg.108687543T>GCA517924516COL4A5c.4377T>G (p.Pro1459=)
c.4359T>G (p.Pro1453=)
n.871T>G
c.173T>G
c.4368T>G (p.Pro1456=)
c.4053T>G (p.Pro1351=)
c.1950T>G (p.Pro650=)
c.4392T>G (p.Pro1464=)
c.4383T>G (p.Pro1461=)
c.4374T>G (p.Pro1458=)
c.2712T>G (p.Pro904=)
Xg.108687544G>ACA413854117COL4A5c.4378G>A (p.Gly1460Arg)
c.4360G>A (p.Gly1454Arg)
n.872G>A
c.174G>A
c.4369G>A (p.Gly1457Arg)
c.4054G>A (p.Gly1352Arg)
c.1951G>A (p.Gly651Arg)
c.4393G>A (p.Gly1465Arg)
c.4384G>A (p.Gly1462Arg)
c.4375G>A (p.Gly1459Arg)
c.2713G>A (p.Gly905Arg)
Xg.108687544G>CCA413854118COL4A5c.4378G>C (p.Gly1460Arg)
c.4360G>C (p.Gly1454Arg)
n.872G>C
c.174G>C
c.4369G>C (p.Gly1457Arg)
c.4054G>C (p.Gly1352Arg)
c.1951G>C (p.Gly651Arg)
c.4393G>C (p.Gly1465Arg)
c.4384G>C (p.Gly1462Arg)
c.4375G>C (p.Gly1459Arg)
c.2713G>C (p.Gly905Arg)
Xg.108687544G>TCA413854119COL4A5c.4378G>T (p.Gly1460Ter)
c.4360G>T (p.Gly1454Ter)
n.872G>T
c.174G>T
c.4369G>T (p.Gly1457Ter)
c.4054G>T (p.Gly1352Ter)
c.1951G>T (p.Gly651Ter)
c.4393G>T (p.Gly1465Ter)
c.4384G>T (p.Gly1462Ter)
c.4375G>T (p.Gly1459Ter)
c.2713G>T (p.Gly905Ter)
Xg.108687544_108687545insACA2580100168COL4A5c.4378_4379insA (p.Gly1460GlufsTer?)
c.4360_4361insA (p.Gly1454GlufsTer?)
n.872_873insA
c.174_175insA
c.4369_4370insA (p.Gly1457GlufsTer?)
c.4054_4055insA (p.Gly1352GlufsTer?)
c.1951_1952insA (p.Gly651GlufsTer?)
c.4393_4394insA (p.Gly1465GlufsTer?)
c.4384_4385insA (p.Gly1462GlufsTer?)
c.4375_4376insA (p.Gly1459GlufsTer?)
c.2713_2714insA (p.Gly905GlufsTer?)
 ClinVar
Xg.108687545G>ACA413854120COL4A5c.4379G>A (p.Gly1460Glu)
c.4361G>A (p.Gly1454Glu)
n.873G>A
c.175G>A
c.4370G>A (p.Gly1457Glu)
c.4055G>A (p.Gly1352Glu)
c.1952G>A (p.Gly651Glu)
c.4394G>A (p.Gly1465Glu)
c.4385G>A (p.Gly1462Glu)
c.4376G>A (p.Gly1459Glu)
c.2714G>A (p.Gly905Glu)
 gnomAD v4
Xg.108687545G>CCA413854122COL4A5c.4379G>C (p.Gly1460Ala)
c.4361G>C (p.Gly1454Ala)
n.873G>C
c.175G>C
c.4370G>C (p.Gly1457Ala)
c.4055G>C (p.Gly1352Ala)
c.1952G>C (p.Gly651Ala)
c.4394G>C (p.Gly1465Ala)
c.4385G>C (p.Gly1462Ala)
c.4376G>C (p.Gly1459Ala)
c.2714G>C (p.Gly905Ala)
Xg.108687545G>TCA413854121COL4A5c.4379G>T (p.Gly1460Val)
c.4361G>T (p.Gly1454Val)
n.873G>T
c.175G>T
c.4370G>T (p.Gly1457Val)
c.4055G>T (p.Gly1352Val)
c.1952G>T (p.Gly651Val)
c.4394G>T (p.Gly1465Val)
c.4385G>T (p.Gly1462Val)
c.4376G>T (p.Gly1459Val)
c.2714G>T (p.Gly905Val)
Xg.108687546A>CCA517924521COL4A5c.4380A>C (p.Gly1460=)
c.4362A>C (p.Gly1454=)
n.874A>C
c.176A>C
c.4371A>C (p.Gly1457=)
c.4056A>C (p.Gly1352=)
c.1953A>C (p.Gly651=)
c.4395A>C (p.Gly1465=)
c.4386A>C (p.Gly1462=)
c.4377A>C (p.Gly1459=)
c.2715A>C (p.Gly905=)
 gnomAD v4
Xg.108687546A>GCA517924522COL4A5c.4380A>G (p.Gly1460=)
c.4362A>G (p.Gly1454=)
n.874A>G
c.176A>G
c.4371A>G (p.Gly1457=)
c.4056A>G (p.Gly1352=)
c.1953A>G (p.Gly651=)
c.4395A>G (p.Gly1465=)
c.4386A>G (p.Gly1462=)
c.4377A>G (p.Gly1459=)
c.2715A>G (p.Gly905=)
Xg.108687546A>TCA517924523COL4A5c.4380A>T (p.Gly1460=)
c.4362A>T (p.Gly1454=)
n.874A>T
c.176A>T
c.4371A>T (p.Gly1457=)
c.4056A>T (p.Gly1352=)
c.1953A>T (p.Gly651=)
c.4395A>T (p.Gly1465=)
c.4386A>T (p.Gly1462=)
c.4377A>T (p.Gly1459=)
c.2715A>T (p.Gly905=)
Xg.108687547A>CCA413854124COL4A5c.4381A>C (p.Thr1461Pro)
c.4363A>C (p.Thr1455Pro)
n.875A>C
c.177A>C
c.4372A>C (p.Thr1458Pro)
c.4057A>C (p.Thr1353Pro)
c.1954A>C (p.Thr652Pro)
c.4396A>C (p.Thr1466Pro)
c.4387A>C (p.Thr1463Pro)
c.4378A>C (p.Thr1460Pro)
c.2716A>C (p.Thr906Pro)
Xg.108687547A>GCA413854129COL4A5c.4381A>G (p.Thr1461Ala)
c.4363A>G (p.Thr1455Ala)
n.875A>G
c.177A>G
c.4372A>G (p.Thr1458Ala)
c.4057A>G (p.Thr1353Ala)
c.1954A>G (p.Thr652Ala)
c.4396A>G (p.Thr1466Ala)
c.4387A>G (p.Thr1463Ala)
c.4378A>G (p.Thr1460Ala)
c.2716A>G (p.Thr906Ala)
Xg.108687547A>TCA413854131COL4A5c.4381A>T (p.Thr1461Ser)
c.4363A>T (p.Thr1455Ser)
n.875A>T
c.177A>T
c.4372A>T (p.Thr1458Ser)
c.4057A>T (p.Thr1353Ser)
c.1954A>T (p.Thr652Ser)
c.4396A>T (p.Thr1466Ser)
c.4387A>T (p.Thr1463Ser)
c.4378A>T (p.Thr1460Ser)
c.2716A>T (p.Thr906Ser)
Xg.108687548C>ACA413854133COL4A5c.4382C>A (p.Thr1461Asn)
c.4364C>A (p.Thr1455Asn)
n.876C>A
c.178C>A
c.4373C>A (p.Thr1458Asn)
c.4058C>A (p.Thr1353Asn)
c.1955C>A (p.Thr652Asn)
c.4397C>A (p.Thr1466Asn)
c.4388C>A (p.Thr1463Asn)
c.4379C>A (p.Thr1460Asn)
c.2717C>A (p.Thr906Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108687548C=CA2450719255COL4A5c.4382C= (p.Thr1461=)
c.4364C= (p.Thr1455=)
n.876C=
c.178C=
c.4373C= (p.Thr1458=)
c.4058C= (p.Thr1353=)
c.1955C= (p.Thr652=)
c.4397C= (p.Thr1466=)
c.4388C= (p.Thr1463=)
c.4379C= (p.Thr1460=)
c.2717C= (p.Thr906=)
Xg.108687548C>GCA413854135COL4A5c.4382C>G (p.Thr1461Ser)
c.4364C>G (p.Thr1455Ser)
n.876C>G
c.178C>G
c.4373C>G (p.Thr1458Ser)
c.4058C>G (p.Thr1353Ser)
c.1955C>G (p.Thr652Ser)
c.4397C>G (p.Thr1466Ser)
c.4388C>G (p.Thr1463Ser)
c.4379C>G (p.Thr1460Ser)
c.2717C>G (p.Thr906Ser)
Xg.108687548C>TCA413854138COL4A5c.4382C>T (p.Thr1461Ile)
c.4364C>T (p.Thr1455Ile)
n.876C>T
c.178C>T
c.4373C>T (p.Thr1458Ile)
c.4058C>T (p.Thr1353Ile)
c.1955C>T (p.Thr652Ile)
c.4397C>T (p.Thr1466Ile)
c.4388C>T (p.Thr1463Ile)
c.4379C>T (p.Thr1460Ile)
c.2717C>T (p.Thr906Ile)
Xg.108687549C>ACA517924525COL4A5c.4383C>A (p.Thr1461=)
c.4365C>A (p.Thr1455=)
n.877C>A
c.179C>A
c.4374C>A (p.Thr1458=)
c.4059C>A (p.Thr1353=)
c.1956C>A (p.Thr652=)
c.4398C>A (p.Thr1466=)
c.4389C>A (p.Thr1463=)
c.4380C>A (p.Thr1460=)
c.2718C>A (p.Thr906=)
Xg.108687549C>GCA517924526COL4A5c.4383C>G (p.Thr1461=)
c.4365C>G (p.Thr1455=)
n.877C>G
c.179C>G
c.4374C>G (p.Thr1458=)
c.4059C>G (p.Thr1353=)
c.1956C>G (p.Thr652=)
c.4398C>G (p.Thr1466=)
c.4389C>G (p.Thr1463=)
c.4380C>G (p.Thr1460=)
c.2718C>G (p.Thr906=)
Xg.108687549C>TCA517924527COL4A5c.4383C>T (p.Thr1461=)
c.4365C>T (p.Thr1455=)
n.877C>T
c.179C>T
c.4374C>T (p.Thr1458=)
c.4059C>T (p.Thr1353=)
c.1956C>T (p.Thr652=)
c.4398C>T (p.Thr1466=)
c.4389C>T (p.Thr1463=)
c.4380C>T (p.Thr1460=)
c.2718C>T (p.Thr906=)
 ClinVar
Xg.108687550T>ACA413854141COL4A5c.4384T>A (p.Ser1462Thr)
c.4366T>A (p.Ser1456Thr)
n.878T>A
c.180T>A
c.4375T>A (p.Ser1459Thr)
c.4060T>A (p.Ser1354Thr)
c.1957T>A (p.Ser653Thr)
c.4399T>A (p.Ser1467Thr)
c.4390T>A (p.Ser1464Thr)
c.4381T>A (p.Ser1461Thr)
c.2719T>A (p.Ser907Thr)
 dbSNP
Xg.108687550T>CCA413854144COL4A5c.4384T>C (p.Ser1462Pro)
c.4366T>C (p.Ser1456Pro)
n.878T>C
c.180T>C
c.4375T>C (p.Ser1459Pro)
c.4060T>C (p.Ser1354Pro)
c.1957T>C (p.Ser653Pro)
c.4399T>C (p.Ser1467Pro)
c.4390T>C (p.Ser1464Pro)
c.4381T>C (p.Ser1461Pro)
c.2719T>C (p.Ser907Pro)
Xg.108687550T>GCA413854147COL4A5c.4384T>G (p.Ser1462Ala)
c.4366T>G (p.Ser1456Ala)
n.878T>G
c.180T>G
c.4375T>G (p.Ser1459Ala)
c.4060T>G (p.Ser1354Ala)
c.1957T>G (p.Ser653Ala)
c.4399T>G (p.Ser1467Ala)
c.4390T>G (p.Ser1464Ala)
c.4381T>G (p.Ser1461Ala)
c.2719T>G (p.Ser907Ala)
Xg.108687550T=CA2450719257COL4A5c.4384T= (p.Ser1462=)
c.4366T= (p.Ser1456=)
n.878T=
c.180T=
c.4375T= (p.Ser1459=)
c.4060T= (p.Ser1354=)
c.1957T= (p.Ser653=)
c.4399T= (p.Ser1467=)
c.4390T= (p.Ser1464=)
c.4381T= (p.Ser1461=)
c.2719T= (p.Ser907=)
Xg.108687551C>ACA413854148COL4A5c.4385C>A (p.Ser1462Tyr)
c.4367C>A (p.Ser1456Tyr)
n.879C>A
c.181C>A
c.4376C>A (p.Ser1459Tyr)
c.4061C>A (p.Ser1354Tyr)
c.1958C>A (p.Ser653Tyr)
c.4400C>A (p.Ser1467Tyr)
c.4391C>A (p.Ser1464Tyr)
c.4382C>A (p.Ser1461Tyr)
c.2720C>A (p.Ser907Tyr)
 dbSNP gnomAD v3 gnomAD v4
Xg.108687551C=CA2450719258COL4A5c.4385C= (p.Ser1462=)
c.4367C= (p.Ser1456=)
n.879C=
c.181C=
c.4376C= (p.Ser1459=)
c.4061C= (p.Ser1354=)
c.1958C= (p.Ser653=)
c.4400C= (p.Ser1467=)
c.4391C= (p.Ser1464=)
c.4382C= (p.Ser1461=)
c.2720C= (p.Ser907=)
Xg.108687551C>GCA413854149COL4A5c.4385C>G (p.Ser1462Cys)
c.4367C>G (p.Ser1456Cys)
n.879C>G
c.181C>G
c.4376C>G (p.Ser1459Cys)
c.4061C>G (p.Ser1354Cys)
c.1958C>G (p.Ser653Cys)
c.4400C>G (p.Ser1467Cys)
c.4391C>G (p.Ser1464Cys)
c.4382C>G (p.Ser1461Cys)
c.2720C>G (p.Ser907Cys)
Xg.108687551C>TCA413854151COL4A5c.4385C>T (p.Ser1462Phe)
c.4367C>T (p.Ser1456Phe)
n.879C>T
c.181C>T
c.4376C>T (p.Ser1459Phe)
c.4061C>T (p.Ser1354Phe)
c.1958C>T (p.Ser653Phe)
c.4400C>T (p.Ser1467Phe)
c.4391C>T (p.Ser1464Phe)
c.4382C>T (p.Ser1461Phe)
c.2720C>T (p.Ser907Phe)
 gnomAD v4
Xg.108687552C>ACA517924530COL4A5c.4386C>A (p.Ser1462=)
c.4368C>A (p.Ser1456=)
n.880C>A
c.182C>A
c.4377C>A (p.Ser1459=)
c.4062C>A (p.Ser1354=)
c.1959C>A (p.Ser653=)
c.4401C>A (p.Ser1467=)
c.4392C>A (p.Ser1464=)
c.4383C>A (p.Ser1461=)
c.2721C>A (p.Ser907=)
Xg.108687552C>GCA517924533COL4A5c.4386C>G (p.Ser1462=)
c.4368C>G (p.Ser1456=)
n.880C>G
c.182C>G
c.4377C>G (p.Ser1459=)
c.4062C>G (p.Ser1354=)
c.1959C>G (p.Ser653=)
c.4401C>G (p.Ser1467=)
c.4392C>G (p.Ser1464=)
c.4383C>G (p.Ser1461=)
c.2721C>G (p.Ser907=)
Xg.108687552C>TCA517924532COL4A5c.4386C>T (p.Ser1462=)
c.4368C>T (p.Ser1456=)
n.880C>T
c.182C>T
c.4377C>T (p.Ser1459=)
c.4062C>T (p.Ser1354=)
c.1959C>T (p.Ser653=)
c.4401C>T (p.Ser1467=)
c.4392C>T (p.Ser1464=)
c.4383C>T (p.Ser1461=)
c.2721C>T (p.Ser907=)
 ClinVar
Xg.108687553T>ACA413854156COL4A5c.4387T>A (p.Ser1463Thr)
c.4369T>A (p.Ser1457Thr)
n.881T>A
c.183T>A
c.4378T>A (p.Ser1460Thr)
c.4063T>A (p.Ser1355Thr)
c.1960T>A (p.Ser654Thr)
c.4402T>A (p.Ser1468Thr)
c.4393T>A (p.Ser1465Thr)
c.4384T>A (p.Ser1462Thr)
c.2722T>A (p.Ser908Thr)
Xg.108687553T>CCA413854155COL4A5c.4387T>C (p.Ser1463Pro)
c.4369T>C (p.Ser1457Pro)
n.881T>C
c.183T>C
c.4378T>C (p.Ser1460Pro)
c.4063T>C (p.Ser1355Pro)
c.1960T>C (p.Ser654Pro)
c.4402T>C (p.Ser1468Pro)
c.4393T>C (p.Ser1465Pro)
c.4384T>C (p.Ser1462Pro)
c.2722T>C (p.Ser908Pro)
Xg.108687553T>GCA413854153COL4A5c.4387T>G (p.Ser1463Ala)
c.4369T>G (p.Ser1457Ala)
n.881T>G
c.183T>G
c.4378T>G (p.Ser1460Ala)
c.4063T>G (p.Ser1355Ala)
c.1960T>G (p.Ser654Ala)
c.4402T>G (p.Ser1468Ala)
c.4393T>G (p.Ser1465Ala)
c.4384T>G (p.Ser1462Ala)
c.2722T>G (p.Ser908Ala)
Xg.108687554C>ACA413854159COL4A5c.4388C>A (p.Ser1463Tyr)
c.4370C>A (p.Ser1457Tyr)
n.882C>A
c.184C>A
c.4379C>A (p.Ser1460Tyr)
c.4064C>A (p.Ser1355Tyr)
c.1961C>A (p.Ser654Tyr)
c.4403C>A (p.Ser1468Tyr)
c.4394C>A (p.Ser1465Tyr)
c.4385C>A (p.Ser1462Tyr)
c.2723C>A (p.Ser908Tyr)
Xg.108687554C=CA2450719260COL4A5c.4388C= (p.Ser1463=)
c.4370C= (p.Ser1457=)
n.882C=
c.184C=
c.4379C= (p.Ser1460=)
c.4064C= (p.Ser1355=)
c.1961C= (p.Ser654=)
c.4403C= (p.Ser1468=)
c.4394C= (p.Ser1465=)
c.4385C= (p.Ser1462=)
c.2723C= (p.Ser908=)
Xg.108687554C>GCA413854160COL4A5c.4388C>G (p.Ser1463Cys)
c.4370C>G (p.Ser1457Cys)
n.882C>G
c.184C>G
c.4379C>G (p.Ser1460Cys)
c.4064C>G (p.Ser1355Cys)
c.1961C>G (p.Ser654Cys)
c.4403C>G (p.Ser1468Cys)
c.4394C>G (p.Ser1465Cys)
c.4385C>G (p.Ser1462Cys)
c.2723C>G (p.Ser908Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.108687554C>TCA413854164COL4A5c.4388C>T (p.Ser1463Phe)
c.4370C>T (p.Ser1457Phe)
n.882C>T
c.184C>T
c.4379C>T (p.Ser1460Phe)
c.4064C>T (p.Ser1355Phe)
c.1961C>T (p.Ser654Phe)
c.4403C>T (p.Ser1468Phe)
c.4394C>T (p.Ser1465Phe)
c.4385C>T (p.Ser1462Phe)
c.2723C>T (p.Ser908Phe)
 gnomAD v4
Xg.108687555T>ACA517924534COL4A5c.4389T>A (p.Ser1463=)
c.4371T>A (p.Ser1457=)
n.883T>A
c.185T>A
c.4380T>A (p.Ser1460=)
c.4065T>A (p.Ser1355=)
c.1962T>A (p.Ser654=)
c.4404T>A (p.Ser1468=)
c.4395T>A (p.Ser1465=)
c.4386T>A (p.Ser1462=)
c.2724T>A (p.Ser908=)
Xg.108687555T>CCA334059118COL4A5c.4389T>C (p.Ser1463=)
c.4371T>C (p.Ser1457=)
n.883T>C
c.185T>C
c.4380T>C (p.Ser1460=)
c.4065T>C (p.Ser1355=)
c.1962T>C (p.Ser654=)
c.4404T>C (p.Ser1468=)
c.4395T>C (p.Ser1465=)
c.4386T>C (p.Ser1462=)
c.2724T>C (p.Ser908=)
 ClinVar dbSNP
Xg.108687555T>GCA517924536COL4A5c.4389T>G (p.Ser1463=)
c.4371T>G (p.Ser1457=)
n.883T>G
c.185T>G
c.4380T>G (p.Ser1460=)
c.4065T>G (p.Ser1355=)
c.1962T>G (p.Ser654=)
c.4404T>G (p.Ser1468=)
c.4395T>G (p.Ser1465=)
c.4386T>G (p.Ser1462=)
c.2724T>G (p.Ser908=)
Xg.108687555T=CA2450719262COL4A5c.4389T= (p.Ser1463=)
c.4371T= (p.Ser1457=)
n.883T=
c.185T=
c.4380T= (p.Ser1460=)
c.4065T= (p.Ser1355=)
c.1962T= (p.Ser654=)
c.4404T= (p.Ser1468=)
c.4395T= (p.Ser1465=)
c.4386T= (p.Ser1462=)
c.2724T= (p.Ser908=)
Xg.108687555dupCA913190509COL4A5c.4389dup (p.Val1464CysfsTer28)
c.4371dup (p.Val1458CysfsTer28)
n.883dup
c.185dup
c.4380dup (p.Val1461CysfsTer28)
c.4065dup (p.Val1356CysfsTer28)
c.1962dup (p.Val655CysfsTer28)
c.4404dup (p.Val1469CysfsTer28)
c.4395dup (p.Val1466CysfsTer28)
c.4386dup (p.Val1463CysfsTer28)
c.2724dup (p.Val909CysfsTer28)
 ClinVar dbSNP gnomAD v4
Xg.108687556_108687557delCA2579677162COL4A5c.4390_4391del (p.Val1464CysfsTer27)
c.4372_4373del (p.Val1458CysfsTer27)
n.884_885del
c.186_187del
c.4381_4382del (p.Val1461CysfsTer27)
c.4066_4067del (p.Val1356CysfsTer27)
c.1963_1964del (p.Val655CysfsTer27)
c.4405_4406del (p.Val1469CysfsTer27)
c.4396_4397del (p.Val1466CysfsTer27)
c.4387_4388del (p.Val1463CysfsTer27)
c.2725_2726del (p.Val909CysfsTer27)
Xg.108687556G>ACA413854165COL4A5c.4390G>A (p.Val1464Ile)
c.4372G>A (p.Val1458Ile)
n.884G>A
c.186G>A
c.4381G>A (p.Val1461Ile)
c.4066G>A (p.Val1356Ile)
c.1963G>A (p.Val655Ile)
c.4405G>A (p.Val1469Ile)
c.4396G>A (p.Val1466Ile)
c.4387G>A (p.Val1463Ile)
c.2725G>A (p.Val909Ile)
Xg.108687556G>CCA413854166COL4A5c.4390G>C (p.Val1464Leu)
c.4372G>C (p.Val1458Leu)
n.884G>C
c.186G>C
c.4381G>C (p.Val1461Leu)
c.4066G>C (p.Val1356Leu)
c.1963G>C (p.Val655Leu)
c.4405G>C (p.Val1469Leu)
c.4396G>C (p.Val1466Leu)
c.4387G>C (p.Val1463Leu)
c.2725G>C (p.Val909Leu)
Xg.108687556G>TCA413854167COL4A5c.4390G>T (p.Val1464Phe)
c.4372G>T (p.Val1458Phe)
n.884G>T
c.186G>T
c.4381G>T (p.Val1461Phe)
c.4066G>T (p.Val1356Phe)
c.1963G>T (p.Val655Phe)
c.4405G>T (p.Val1469Phe)
c.4396G>T (p.Val1466Phe)
c.4387G>T (p.Val1463Phe)
c.2725G>T (p.Val909Phe)
Xg.108687556dupCA2695235235COL4A5c.4390dup (p.Val1464GlyfsTer28)
c.4372dup (p.Val1458GlyfsTer28)
n.884dup
c.186dup
c.4381dup (p.Val1461GlyfsTer28)
c.4066dup (p.Val1356GlyfsTer28)
c.1963dup (p.Val655GlyfsTer28)
c.4405dup (p.Val1469GlyfsTer28)
c.4396dup (p.Val1466GlyfsTer28)
c.4387dup (p.Val1463GlyfsTer28)
c.2725dup (p.Val909GlyfsTer28)
Xg.108687557T>ACA413854168COL4A5c.4391T>A (p.Val1464Asp)
c.4373T>A (p.Val1458Asp)
n.885T>A
c.187T>A
c.4382T>A (p.Val1461Asp)
c.4067T>A (p.Val1356Asp)
c.1964T>A (p.Val655Asp)
c.4406T>A (p.Val1469Asp)
c.4397T>A (p.Val1466Asp)
c.4388T>A (p.Val1463Asp)
c.2726T>A (p.Val909Asp)
Xg.108687557T>CCA413854169COL4A5c.4391T>C (p.Val1464Ala)
c.4373T>C (p.Val1458Ala)
n.885T>C
c.187T>C
c.4382T>C (p.Val1461Ala)
c.4067T>C (p.Val1356Ala)
c.1964T>C (p.Val655Ala)
c.4406T>C (p.Val1469Ala)
c.4397T>C (p.Val1466Ala)
c.4388T>C (p.Val1463Ala)
c.2726T>C (p.Val909Ala)
 gnomAD v4
Xg.108687557T>GCA413854170COL4A5c.4391T>G (p.Val1464Gly)
c.4373T>G (p.Val1458Gly)
n.885T>G
c.187T>G
c.4382T>G (p.Val1461Gly)
c.4067T>G (p.Val1356Gly)
c.1964T>G (p.Val655Gly)
c.4406T>G (p.Val1469Gly)
c.4397T>G (p.Val1466Gly)
c.4388T>G (p.Val1463Gly)
c.2726T>G (p.Val909Gly)
Xg.108687558T>ACA517924538COL4A5c.4392T>A (p.Val1464=)
c.4374T>A (p.Val1458=)
n.886T>A
c.188T>A
c.4383T>A (p.Val1461=)
c.4068T>A (p.Val1356=)
c.1965T>A (p.Val655=)
c.4407T>A (p.Val1469=)
c.4398T>A (p.Val1466=)
c.4389T>A (p.Val1463=)
c.2727T>A (p.Val909=)
Xg.108687558T>CCA517924540COL4A5c.4392T>C (p.Val1464=)
c.4374T>C (p.Val1458=)
n.886T>C
c.188T>C
c.4383T>C (p.Val1461=)
c.4068T>C (p.Val1356=)
c.1965T>C (p.Val655=)
c.4407T>C (p.Val1469=)
c.4398T>C (p.Val1466=)
c.4389T>C (p.Val1463=)
c.2727T>C (p.Val909=)
 ClinVar gnomAD v4
Xg.108687558T>GCA517924542COL4A5c.4392T>G (p.Val1464=)
c.4374T>G (p.Val1458=)
n.886T>G
c.188T>G
c.4383T>G (p.Val1461=)
c.4068T>G (p.Val1356=)
c.1965T>G (p.Val655=)
c.4407T>G (p.Val1469=)
c.4398T>G (p.Val1466=)
c.4389T>G (p.Val1463=)
c.2727T>G (p.Val909=)
Xg.108687559G>ACA413854171COL4A5c.4393G>A (p.Ala1465Thr)
c.4375G>A (p.Ala1459Thr)
n.887G>A
c.189G>A
c.4384G>A (p.Ala1462Thr)
c.4069G>A (p.Ala1357Thr)
c.1966G>A (p.Ala656Thr)
c.4408G>A (p.Ala1470Thr)
c.4399G>A (p.Ala1467Thr)
c.4390G>A (p.Ala1464Thr)
c.2728G>A (p.Ala910Thr)
 ClinVar dbSNP
Xg.108687559G>CCA413854172COL4A5c.4393G>C (p.Ala1465Pro)
c.4375G>C (p.Ala1459Pro)
n.887G>C
c.189G>C
c.4384G>C (p.Ala1462Pro)
c.4069G>C (p.Ala1357Pro)
c.1966G>C (p.Ala656Pro)
c.4408G>C (p.Ala1470Pro)
c.4399G>C (p.Ala1467Pro)
c.4390G>C (p.Ala1464Pro)
c.2728G>C (p.Ala910Pro)
Xg.108687559G>TCA413854173COL4A5c.4393G>T (p.Ala1465Ser)
c.4375G>T (p.Ala1459Ser)
n.887G>T
c.189G>T
c.4384G>T (p.Ala1462Ser)
c.4069G>T (p.Ala1357Ser)
c.1966G>T (p.Ala656Ser)
c.4408G>T (p.Ala1470Ser)
c.4399G>T (p.Ala1467Ser)
c.4390G>T (p.Ala1464Ser)
c.2728G>T (p.Ala910Ser)
Xg.108687560C>ACA413854175COL4A5c.4394C>A (p.Ala1465Glu)
c.4376C>A (p.Ala1459Glu)
n.888C>A
c.190C>A
c.4385C>A (p.Ala1462Glu)
c.4070C>A (p.Ala1357Glu)
c.1967C>A (p.Ala656Glu)
c.4409C>A (p.Ala1470Glu)
c.4400C>A (p.Ala1467Glu)
c.4391C>A (p.Ala1464Glu)
c.2729C>A (p.Ala910Glu)
 dbSNP gnomAD v2 gnomAD v4
Xg.108687560C=CA2450719063COL4A5c.4394C= (p.Ala1465=)
c.4376C= (p.Ala1459=)
n.888C=
c.190C=
c.4385C= (p.Ala1462=)
c.4070C= (p.Ala1357=)
c.1967C= (p.Ala656=)
c.4409C= (p.Ala1470=)
c.4400C= (p.Ala1467=)
c.4391C= (p.Ala1464=)
c.2729C= (p.Ala910=)
Xg.108687560C>GCA413854179COL4A5c.4394C>G (p.Ala1465Gly)
c.4376C>G (p.Ala1459Gly)
n.888C>G
c.190C>G
c.4385C>G (p.Ala1462Gly)
c.4070C>G (p.Ala1357Gly)
c.1967C>G (p.Ala656Gly)
c.4409C>G (p.Ala1470Gly)
c.4400C>G (p.Ala1467Gly)
c.4391C>G (p.Ala1464Gly)
c.2729C>G (p.Ala910Gly)
Xg.108687560C>TCA413854177COL4A5c.4394C>T (p.Ala1465Val)
c.4376C>T (p.Ala1459Val)
n.888C>T
c.190C>T
c.4385C>T (p.Ala1462Val)
c.4070C>T (p.Ala1357Val)
c.1967C>T (p.Ala656Val)
c.4409C>T (p.Ala1470Val)
c.4400C>T (p.Ala1467Val)
c.4391C>T (p.Ala1464Val)
c.2729C>T (p.Ala910Val)
Xg.108687561A>CCA517924543COL4A5c.4395A>C (p.Ala1465=)
c.4377A>C (p.Ala1459=)
n.889A>C
c.191A>C
c.4386A>C (p.Ala1462=)
c.4071A>C (p.Ala1357=)
c.1968A>C (p.Ala656=)
c.4410A>C (p.Ala1470=)
c.4401A>C (p.Ala1467=)
c.4392A>C (p.Ala1464=)
c.2730A>C (p.Ala910=)
Xg.108687561A>GCA517924544COL4A5c.4395A>G (p.Ala1465=)
c.4377A>G (p.Ala1459=)
n.889A>G
c.191A>G
c.4386A>G (p.Ala1462=)
c.4071A>G (p.Ala1357=)
c.1968A>G (p.Ala656=)
c.4410A>G (p.Ala1470=)
c.4401A>G (p.Ala1467=)
c.4392A>G (p.Ala1464=)
c.2730A>G (p.Ala910=)
Xg.108687561A>TCA517924545COL4A5c.4395A>T (p.Ala1465=)
c.4377A>T (p.Ala1459=)
n.889A>T
c.191A>T
c.4386A>T (p.Ala1462=)
c.4071A>T (p.Ala1357=)
c.1968A>T (p.Ala656=)
c.4410A>T (p.Ala1470=)
c.4401A>T (p.Ala1467=)
c.4392A>T (p.Ala1464=)
c.2730A>T (p.Ala910=)
Xg.108687562C>ACA413854181COL4A5c.4396C>A (p.His1466Asn)
c.4378C>A (p.His1460Asn)
n.890C>A
c.192C>A
c.4387C>A (p.His1463Asn)
c.4072C>A (p.His1358Asn)
c.1969C>A (p.His657Asn)
c.4411C>A (p.His1471Asn)
c.4402C>A (p.His1468Asn)
c.4393C>A (p.His1465Asn)
c.2731C>A (p.His911Asn)
Xg.108687562C>GCA413854183COL4A5c.4396C>G (p.His1466Asp)
c.4378C>G (p.His1460Asp)
n.890C>G
c.192C>G
c.4387C>G (p.His1463Asp)
c.4072C>G (p.His1358Asp)
c.1969C>G (p.His657Asp)
c.4411C>G (p.His1471Asp)
c.4402C>G (p.His1468Asp)
c.4393C>G (p.His1465Asp)
c.2731C>G (p.His911Asp)
Xg.108687562C>TCA413854182COL4A5c.4396C>T (p.His1466Tyr)
c.4378C>T (p.His1460Tyr)
n.890C>T
c.192C>T
c.4387C>T (p.His1463Tyr)
c.4072C>T (p.His1358Tyr)
c.1969C>T (p.His657Tyr)
c.4411C>T (p.His1471Tyr)
c.4402C>T (p.His1468Tyr)
c.4393C>T (p.His1465Tyr)
c.2731C>T (p.His911Tyr)
 COSMIC
Xg.108687562_108687566dupCA2695235236COL4A5c.4396_4400dup (p.Phe1468MetfsTer?)
c.4378_4382dup (p.Phe1462MetfsTer?)
n.890_894dup
c.192_196dup
c.4387_4391dup (p.Phe1465MetfsTer?)
c.4072_4076dup (p.Phe1360MetfsTer?)
c.1969_1973dup (p.Phe659MetfsTer?)
c.4411_4415dup (p.Phe1473MetfsTer?)
c.4402_4406dup (p.Phe1470MetfsTer?)
c.4393_4397dup (p.Phe1467MetfsTer?)
c.2731_2735dup (p.Phe913MetfsTer?)
Xg.108687563A=CA2450719068COL4A5c.4397A= (p.His1466=)
c.4379A= (p.His1460=)
n.891A=
c.193A=
c.4388A= (p.His1463=)
c.4073A= (p.His1358=)
c.1970A= (p.His657=)
c.4412A= (p.His1471=)
c.4403A= (p.His1468=)
c.4394A= (p.His1465=)
c.2732A= (p.His911=)
Xg.108687563A>CCA413854185COL4A5c.4397A>C (p.His1466Pro)
c.4379A>C (p.His1460Pro)
n.891A>C
c.193A>C
c.4388A>C (p.His1463Pro)
c.4073A>C (p.His1358Pro)
c.1970A>C (p.His657Pro)
c.4412A>C (p.His1471Pro)
c.4403A>C (p.His1468Pro)
c.4394A>C (p.His1465Pro)
c.2732A>C (p.His911Pro)
Xg.108687563A>GCA413854188COL4A5c.4397A>G (p.His1466Arg)
c.4379A>G (p.His1460Arg)
n.891A>G
c.193A>G
c.4388A>G (p.His1463Arg)
c.4073A>G (p.His1358Arg)
c.1970A>G (p.His657Arg)
c.4412A>G (p.His1471Arg)
c.4403A>G (p.His1468Arg)
c.4394A>G (p.His1465Arg)
c.2732A>G (p.His911Arg)
 gnomAD v4
Xg.108687563A>TCA413854186COL4A5c.4397A>T (p.His1466Leu)
c.4379A>T (p.His1460Leu)
n.891A>T
c.193A>T
c.4388A>T (p.His1463Leu)
c.4073A>T (p.His1358Leu)
c.1970A>T (p.His657Leu)
c.4412A>T (p.His1471Leu)
c.4403A>T (p.His1468Leu)
c.4394A>T (p.His1465Leu)
c.2732A>T (p.His911Leu)
 dbSNP gnomAD v3 gnomAD v4
Xg.108687564T>ACA413854189COL4A5c.4398T>A (p.His1466Gln)
c.4380T>A (p.His1460Gln)
n.892T>A
c.194T>A
c.4389T>A (p.His1463Gln)
c.4074T>A (p.His1358Gln)
c.1971T>A (p.His657Gln)
c.4413T>A (p.His1471Gln)
c.4404T>A (p.His1468Gln)
c.4395T>A (p.His1465Gln)
c.2733T>A (p.His911Gln)
Xg.108687564T>CCA517924546COL4A5c.4398T>C (p.His1466=)
c.4380T>C (p.His1460=)
n.892T>C
c.194T>C
c.4389T>C (p.His1463=)
c.4074T>C (p.His1358=)
c.1971T>C (p.His657=)
c.4413T>C (p.His1471=)
c.4404T>C (p.His1468=)
c.4395T>C (p.His1465=)
c.2733T>C (p.His911=)
Xg.108687564T>GCA413854190COL4A5c.4398T>G (p.His1466Gln)
c.4380T>G (p.His1460Gln)
n.892T>G
c.194T>G
c.4389T>G (p.His1463Gln)
c.4074T>G (p.His1358Gln)
c.1971T>G (p.His657Gln)
c.4413T>G (p.His1471Gln)
c.4404T>G (p.His1468Gln)
c.4395T>G (p.His1465Gln)
c.2733T>G (p.His911Gln)
 COSMIC COSMIC
Xg.108687565G>ACA413854198COL4A5c.4399G>A (p.Gly1467Arg)
c.4381G>A (p.Gly1461Arg)
n.893G>A
c.195G>A
c.4390G>A (p.Gly1464Arg)
c.4075G>A (p.Gly1359Arg)
c.1972G>A (p.Gly658Arg)
c.4414G>A (p.Gly1472Arg)
c.4405G>A (p.Gly1469Arg)
c.4396G>A (p.Gly1466Arg)
c.2734G>A (p.Gly912Arg)
Xg.108687565G>CCA413854200COL4A5c.4399G>C (p.Gly1467Arg)
c.4381G>C (p.Gly1461Arg)
n.893G>C
c.195G>C
c.4390G>C (p.Gly1464Arg)
c.4075G>C (p.Gly1359Arg)
c.1972G>C (p.Gly658Arg)
c.4414G>C (p.Gly1472Arg)
c.4405G>C (p.Gly1469Arg)
c.4396G>C (p.Gly1466Arg)
c.2734G>C (p.Gly912Arg)
Xg.108687565G>TCA413854202COL4A5c.4399G>T (p.Gly1467Ter)
c.4381G>T (p.Gly1461Ter)
n.893G>T
c.195G>T
c.4390G>T (p.Gly1464Ter)
c.4075G>T (p.Gly1359Ter)
c.1972G>T (p.Gly658Ter)
c.4414G>T (p.Gly1472Ter)
c.4405G>T (p.Gly1469Ter)
c.4396G>T (p.Gly1466Ter)
c.2734G>T (p.Gly912Ter)
Xg.108687566G>ACA413854204COL4A5c.4400G>A (p.Gly1467Glu)
c.4382G>A (p.Gly1461Glu)
n.894G>A
c.196G>A
c.4391G>A (p.Gly1464Glu)
c.4076G>A (p.Gly1359Glu)
c.1973G>A (p.Gly658Glu)
c.4415G>A (p.Gly1472Glu)
c.4406G>A (p.Gly1469Glu)
c.4397G>A (p.Gly1466Glu)
c.2735G>A (p.Gly912Glu)
Xg.108687566G>CCA413854205COL4A5c.4400G>C (p.Gly1467Ala)
c.4382G>C (p.Gly1461Ala)
n.894G>C
c.196G>C
c.4391G>C (p.Gly1464Ala)
c.4076G>C (p.Gly1359Ala)
c.1973G>C (p.Gly658Ala)
c.4415G>C (p.Gly1472Ala)
c.4406G>C (p.Gly1469Ala)
c.4397G>C (p.Gly1466Ala)
c.2735G>C (p.Gly912Ala)
Xg.108687566G>TCA413854206COL4A5c.4400G>T (p.Gly1467Val)
c.4382G>T (p.Gly1461Val)
n.894G>T
c.196G>T
c.4391G>T (p.Gly1464Val)
c.4076G>T (p.Gly1359Val)
c.1973G>T (p.Gly658Val)
c.4415G>T (p.Gly1472Val)
c.4406G>T (p.Gly1469Val)
c.4397G>T (p.Gly1466Val)
c.2735G>T (p.Gly912Val)
Xg.108687567A=CA2450719070COL4A5c.4401A= (p.Gly1467=)
c.4383A= (p.Gly1461=)
n.895A=
c.197A=
c.4392A= (p.Gly1464=)
c.4077A= (p.Gly1359=)
c.1974A= (p.Gly658=)
c.4416A= (p.Gly1472=)
c.4407A= (p.Gly1469=)
c.4398A= (p.Gly1466=)
c.2736A= (p.Gly912=)
Xg.108687567A>CCA517924548COL4A5c.4401A>C (p.Gly1467=)
c.4383A>C (p.Gly1461=)
n.895A>C
c.197A>C
c.4392A>C (p.Gly1464=)
c.4077A>C (p.Gly1359=)
c.1974A>C (p.Gly658=)
c.4416A>C (p.Gly1472=)
c.4407A>C (p.Gly1469=)
c.4398A>C (p.Gly1466=)
c.2736A>C (p.Gly912=)
Xg.108687567A>GCA517924549COL4A5c.4401A>G (p.Gly1467=)
c.4383A>G (p.Gly1461=)
n.895A>G
c.197A>G
c.4392A>G (p.Gly1464=)
c.4077A>G (p.Gly1359=)
c.1974A>G (p.Gly658=)
c.4416A>G (p.Gly1472=)
c.4407A>G (p.Gly1469=)
c.4398A>G (p.Gly1466=)
c.2736A>G (p.Gly912=)
 ClinVar
Xg.108687567A>TCA517924550COL4A5c.4401A>T (p.Gly1467=)
c.4383A>T (p.Gly1461=)
n.895A>T
c.197A>T
c.4392A>T (p.Gly1464=)
c.4077A>T (p.Gly1359=)
c.1974A>T (p.Gly658=)
c.4416A>T (p.Gly1472=)
c.4407A>T (p.Gly1469=)
c.4398A>T (p.Gly1466=)
c.2736A>T (p.Gly912=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108687568T>ACA413854207COL4A5c.4402T>A (p.Phe1468Ile)
c.4384T>A (p.Phe1462Ile)
n.896T>A
c.198T>A
c.4393T>A (p.Phe1465Ile)
c.4078T>A (p.Phe1360Ile)
c.1975T>A (p.Phe659Ile)
c.4417T>A (p.Phe1473Ile)
c.4408T>A (p.Phe1470Ile)
c.4399T>A (p.Phe1467Ile)
c.2737T>A (p.Phe913Ile)
Xg.108687568T>CCA413854209COL4A5c.4402T>C (p.Phe1468Leu)
c.4384T>C (p.Phe1462Leu)
n.896T>C
c.198T>C
c.4393T>C (p.Phe1465Leu)
c.4078T>C (p.Phe1360Leu)
c.1975T>C (p.Phe659Leu)
c.4417T>C (p.Phe1473Leu)
c.4408T>C (p.Phe1470Leu)
c.4399T>C (p.Phe1467Leu)
c.2737T>C (p.Phe913Leu)
Xg.108687568T>GCA413854211COL4A5c.4402T>G (p.Phe1468Val)
c.4384T>G (p.Phe1462Val)
n.896T>G
c.198T>G
c.4393T>G (p.Phe1465Val)
c.4078T>G (p.Phe1360Val)
c.1975T>G (p.Phe659Val)
c.4417T>G (p.Phe1473Val)
c.4408T>G (p.Phe1470Val)
c.4399T>G (p.Phe1467Val)
c.2737T>G (p.Phe913Val)
Xg.108687569T>ACA413854216COL4A5c.4403T>A (p.Phe1468Tyr)
c.4385T>A (p.Phe1462Tyr)
n.897T>A
c.199T>A
c.4394T>A (p.Phe1465Tyr)
c.4079T>A (p.Phe1360Tyr)
c.1976T>A (p.Phe659Tyr)
c.4418T>A (p.Phe1473Tyr)
c.4409T>A (p.Phe1470Tyr)
c.4400T>A (p.Phe1467Tyr)
c.2738T>A (p.Phe913Tyr)
Xg.108687569T>CCA413854214COL4A5c.4403T>C (p.Phe1468Ser)
c.4385T>C (p.Phe1462Ser)
n.897T>C
c.199T>C
c.4394T>C (p.Phe1465Ser)
c.4079T>C (p.Phe1360Ser)
c.1976T>C (p.Phe659Ser)
c.4418T>C (p.Phe1473Ser)
c.4409T>C (p.Phe1470Ser)
c.4400T>C (p.Phe1467Ser)
c.2738T>C (p.Phe913Ser)
Xg.108687569T>GCA413854212COL4A5c.4403T>G (p.Phe1468Cys)
c.4385T>G (p.Phe1462Cys)
n.897T>G
c.199T>G
c.4394T>G (p.Phe1465Cys)
c.4079T>G (p.Phe1360Cys)
c.1976T>G (p.Phe659Cys)
c.4418T>G (p.Phe1473Cys)
c.4409T>G (p.Phe1470Cys)
c.4400T>G (p.Phe1467Cys)
c.2738T>G (p.Phe913Cys)
Xg.108687570T>ACA413854218COL4A5c.4404T>A (p.Phe1468Leu)
c.4386T>A (p.Phe1462Leu)
n.898T>A
c.200T>A
c.4395T>A (p.Phe1465Leu)
c.4080T>A (p.Phe1360Leu)
c.1977T>A (p.Phe659Leu)
c.4419T>A (p.Phe1473Leu)
c.4410T>A (p.Phe1470Leu)
c.4401T>A (p.Phe1467Leu)
c.2739T>A (p.Phe913Leu)
Xg.108687570T>CCA517924553COL4A5c.4404T>C (p.Phe1468=)
c.4386T>C (p.Phe1462=)
n.898T>C
c.200T>C
c.4395T>C (p.Phe1465=)
c.4080T>C (p.Phe1360=)
c.1977T>C (p.Phe659=)
c.4419T>C (p.Phe1473=)
c.4410T>C (p.Phe1470=)
c.4401T>C (p.Phe1467=)
c.2739T>C (p.Phe913=)
Xg.108687570T>GCA413854219COL4A5c.4404T>G (p.Phe1468Leu)
c.4386T>G (p.Phe1462Leu)
n.898T>G
c.200T>G
c.4395T>G (p.Phe1465Leu)
c.4080T>G (p.Phe1360Leu)
c.1977T>G (p.Phe659Leu)
c.4419T>G (p.Phe1473Leu)
c.4410T>G (p.Phe1470Leu)
c.4401T>G (p.Phe1467Leu)
c.2739T>G (p.Phe913Leu)
Xg.108687571C>ACA413854220COL4A5c.4405C>A (p.Leu1469Ile)
c.4387C>A (p.Leu1463Ile)
n.899C>A
c.201C>A
c.4396C>A (p.Leu1466Ile)
c.4081C>A (p.Leu1361Ile)
c.1978C>A (p.Leu660Ile)
c.4420C>A (p.Leu1474Ile)
c.4411C>A (p.Leu1471Ile)
c.4402C>A (p.Leu1468Ile)
c.2740C>A (p.Leu914Ile)
Xg.108687571C=CA2450719075COL4A5c.4405C= (p.Leu1469=)
c.4387C= (p.Leu1463=)
n.899C=
c.201C=
c.4396C= (p.Leu1466=)
c.4081C= (p.Leu1361=)
c.1978C= (p.Leu660=)
c.4420C= (p.Leu1474=)
c.4411C= (p.Leu1471=)
c.4402C= (p.Leu1468=)
c.2740C= (p.Leu914=)
Xg.108687571C>GCA413854221COL4A5c.4405C>G (p.Leu1469Val)
c.4387C>G (p.Leu1463Val)
n.899C>G
c.201C>G
c.4396C>G (p.Leu1466Val)
c.4081C>G (p.Leu1361Val)
c.1978C>G (p.Leu660Val)
c.4420C>G (p.Leu1474Val)
c.4411C>G (p.Leu1471Val)
c.4402C>G (p.Leu1468Val)
c.2740C>G (p.Leu914Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.108687571C>TCA413854222COL4A5c.4405C>T (p.Leu1469Phe)
c.4387C>T (p.Leu1463Phe)
n.899C>T
c.201C>T
c.4396C>T (p.Leu1466Phe)
c.4081C>T (p.Leu1361Phe)
c.1978C>T (p.Leu660Phe)
c.4420C>T (p.Leu1474Phe)
c.4411C>T (p.Leu1471Phe)
c.4402C>T (p.Leu1468Phe)
c.2740C>T (p.Leu914Phe)
 ClinVar
Xg.108687572T>ACA413854225COL4A5c.4406T>A (p.Leu1469His)
c.4388T>A (p.Leu1463His)
n.900T>A
c.202T>A
c.4397T>A (p.Leu1466His)
c.4082T>A (p.Leu1361His)
c.1979T>A (p.Leu660His)
c.4421T>A (p.Leu1474His)
c.4412T>A (p.Leu1471His)
c.4403T>A (p.Leu1468His)
c.2741T>A (p.Leu914His)
Xg.108687572T>CCA413854227COL4A5c.4406T>C (p.Leu1469Pro)
c.4388T>C (p.Leu1463Pro)
n.900T>C
c.202T>C
c.4397T>C (p.Leu1466Pro)
c.4082T>C (p.Leu1361Pro)
c.1979T>C (p.Leu660Pro)
c.4421T>C (p.Leu1474Pro)
c.4412T>C (p.Leu1471Pro)
c.4403T>C (p.Leu1468Pro)
c.2741T>C (p.Leu914Pro)
Xg.108687572T>GCA413854228COL4A5c.4406T>G (p.Leu1469Arg)
c.4388T>G (p.Leu1463Arg)
n.900T>G
c.202T>G
c.4397T>G (p.Leu1466Arg)
c.4082T>G (p.Leu1361Arg)
c.1979T>G (p.Leu660Arg)
c.4421T>G (p.Leu1474Arg)
c.4412T>G (p.Leu1471Arg)
c.4403T>G (p.Leu1468Arg)
c.2741T>G (p.Leu914Arg)
Xg.108687573T>ACA517924555COL4A5c.4407T>A (p.Leu1469=)
c.4389T>A (p.Leu1463=)
n.901T>A
c.203T>A
c.4398T>A (p.Leu1466=)
c.4083T>A (p.Leu1361=)
c.1980T>A (p.Leu660=)
c.4422T>A (p.Leu1474=)
c.4413T>A (p.Leu1471=)
c.4404T>A (p.Leu1468=)
c.2742T>A (p.Leu914=)
Xg.108687573T>CCA517924556COL4A5c.4407T>C (p.Leu1469=)
c.4389T>C (p.Leu1463=)
n.901T>C
c.203T>C
c.4398T>C (p.Leu1466=)
c.4083T>C (p.Leu1361=)
c.1980T>C (p.Leu660=)
c.4422T>C (p.Leu1474=)
c.4413T>C (p.Leu1471=)
c.4404T>C (p.Leu1468=)
c.2742T>C (p.Leu914=)
Xg.108687573T>GCA517924557COL4A5c.4407T>G (p.Leu1469=)
c.4389T>G (p.Leu1463=)
n.901T>G
c.203T>G
c.4398T>G (p.Leu1466=)
c.4083T>G (p.Leu1361=)
c.1980T>G (p.Leu660=)
c.4422T>G (p.Leu1474=)
c.4413T>G (p.Leu1471=)
c.4404T>G (p.Leu1468=)
c.2742T>G (p.Leu914=)
Xg.108687574A=CA2450719081COL4A5c.4408A= (p.Ile1470=)
c.4390A= (p.Ile1464=)
n.902A=
c.204A=
c.4399A= (p.Ile1467=)
c.4084A= (p.Ile1362=)
c.1981A= (p.Ile661=)
c.4423A= (p.Ile1475=)
c.4414A= (p.Ile1472=)
c.4405A= (p.Ile1469=)
c.2743A= (p.Ile915=)
Xg.108687574A>CCA413854230COL4A5c.4408A>C (p.Ile1470Leu)
c.4390A>C (p.Ile1464Leu)
n.902A>C
c.204A>C
c.4399A>C (p.Ile1467Leu)
c.4084A>C (p.Ile1362Leu)
c.1981A>C (p.Ile661Leu)
c.4423A>C (p.Ile1475Leu)
c.4414A>C (p.Ile1472Leu)
c.4405A>C (p.Ile1469Leu)
c.2743A>C (p.Ile915Leu)
Xg.108687574A>GCA413854231COL4A5c.4408A>G (p.Ile1470Val)
c.4390A>G (p.Ile1464Val)
n.902A>G
c.204A>G
c.4399A>G (p.Ile1467Val)
c.4084A>G (p.Ile1362Val)
c.1981A>G (p.Ile661Val)
c.4423A>G (p.Ile1475Val)
c.4414A>G (p.Ile1472Val)
c.4405A>G (p.Ile1469Val)
c.2743A>G (p.Ile915Val)
Xg.108687574A>TCA413854232COL4A5c.4408A>T (p.Ile1470Phe)
c.4390A>T (p.Ile1464Phe)
n.902A>T
c.204A>T
c.4399A>T (p.Ile1467Phe)
c.4084A>T (p.Ile1362Phe)
c.1981A>T (p.Ile661Phe)
c.4423A>T (p.Ile1475Phe)
c.4414A>T (p.Ile1472Phe)
c.4405A>T (p.Ile1469Phe)
c.2743A>T (p.Ile915Phe)
 dbSNP gnomAD v3 gnomAD v4
Xg.108687575T>ACA413854236COL4A5c.4409T>A (p.Ile1470Asn)
c.4391T>A (p.Ile1464Asn)
n.903T>A
c.205T>A
c.4400T>A (p.Ile1467Asn)
c.4085T>A (p.Ile1362Asn)
c.1982T>A (p.Ile661Asn)
c.4424T>A (p.Ile1475Asn)
c.4415T>A (p.Ile1472Asn)
c.4406T>A (p.Ile1469Asn)
c.2744T>A (p.Ile915Asn)
Xg.108687575T>CCA413854234COL4A5c.4409T>C (p.Ile1470Thr)
c.4391T>C (p.Ile1464Thr)
n.903T>C
c.205T>C
c.4400T>C (p.Ile1467Thr)
c.4085T>C (p.Ile1362Thr)
c.1982T>C (p.Ile661Thr)
c.4424T>C (p.Ile1475Thr)
c.4415T>C (p.Ile1472Thr)
c.4406T>C (p.Ile1469Thr)
c.2744T>C (p.Ile915Thr)
Xg.108687575T>GCA413854233COL4A5c.4409T>G (p.Ile1470Ser)
c.4391T>G (p.Ile1464Ser)
n.903T>G
c.205T>G
c.4400T>G (p.Ile1467Ser)
c.4085T>G (p.Ile1362Ser)
c.1982T>G (p.Ile661Ser)
c.4424T>G (p.Ile1475Ser)
c.4415T>G (p.Ile1472Ser)
c.4406T>G (p.Ile1469Ser)
c.2744T>G (p.Ile915Ser)
Xg.108687576delCA2580100171COL4A5c.4410del (p.Thr1471HisfsTer?)
c.4392del (p.Thr1465HisfsTer?)
n.904del
c.206del
c.4401del (p.Thr1468HisfsTer?)
c.4086del (p.Thr1363HisfsTer?)
c.1983del (p.Thr662HisfsTer?)
c.4425del (p.Thr1476HisfsTer?)
c.4416del (p.Thr1473HisfsTer?)
c.4407del (p.Thr1470HisfsTer?)
c.2745del (p.Thr916HisfsTer?)
 ClinVar
Xg.108687576T>ACA517924559COL4A5c.4410T>A (p.Ile1470=)
c.4392T>A (p.Ile1464=)
n.904T>A
c.206T>A
c.4401T>A (p.Ile1467=)
c.4086T>A (p.Ile1362=)
c.1983T>A (p.Ile661=)
c.4425T>A (p.Ile1475=)
c.4416T>A (p.Ile1472=)
c.4407T>A (p.Ile1469=)
c.2745T>A (p.Ile915=)
Xg.108687576T>CCA517924560COL4A5c.4410T>C (p.Ile1470=)
c.4392T>C (p.Ile1464=)
n.904T>C
c.206T>C
c.4401T>C (p.Ile1467=)
c.4086T>C (p.Ile1362=)
c.1983T>C (p.Ile661=)
c.4425T>C (p.Ile1475=)
c.4416T>C (p.Ile1472=)
c.4407T>C (p.Ile1469=)
c.2745T>C (p.Ile915=)
Xg.108687576T>GCA413854237COL4A5c.4410T>G (p.Ile1470Met)
c.4392T>G (p.Ile1464Met)
n.904T>G
c.206T>G
c.4401T>G (p.Ile1467Met)
c.4086T>G (p.Ile1362Met)
c.1983T>G (p.Ile661Met)
c.4425T>G (p.Ile1475Met)
c.4416T>G (p.Ile1472Met)
c.4407T>G (p.Ile1469Met)
c.2745T>G (p.Ile915Met)
Xg.108687577A>CCA413854239COL4A5c.4411A>C (p.Thr1471Pro)
c.4393A>C (p.Thr1465Pro)
n.905A>C
c.207A>C
c.4402A>C (p.Thr1468Pro)
c.4087A>C (p.Thr1363Pro)
c.1984A>C (p.Thr662Pro)
c.4426A>C (p.Thr1476Pro)
c.4417A>C (p.Thr1473Pro)
c.4408A>C (p.Thr1470Pro)
c.2746A>C (p.Thr916Pro)
Xg.108687577A>GCA413854240COL4A5c.4411A>G (p.Thr1471Ala)
c.4393A>G (p.Thr1465Ala)
n.905A>G
c.207A>G
c.4402A>G (p.Thr1468Ala)
c.4087A>G (p.Thr1363Ala)
c.1984A>G (p.Thr662Ala)
c.4426A>G (p.Thr1476Ala)
c.4417A>G (p.Thr1473Ala)
c.4408A>G (p.Thr1470Ala)
c.2746A>G (p.Thr916Ala)
Xg.108687577A>TCA413854241COL4A5c.4411A>T (p.Thr1471Ser)
c.4393A>T (p.Thr1465Ser)
n.905A>T
c.207A>T
c.4402A>T (p.Thr1468Ser)
c.4087A>T (p.Thr1363Ser)
c.1984A>T (p.Thr662Ser)
c.4426A>T (p.Thr1476Ser)
c.4417A>T (p.Thr1473Ser)
c.4408A>T (p.Thr1470Ser)
c.2746A>T (p.Thr916Ser)
Xg.108687578C>ACA413854242COL4A5c.4412C>A (p.Thr1471Lys)
c.4394C>A (p.Thr1465Lys)
n.906C>A
c.208C>A
c.4403C>A (p.Thr1468Lys)
c.4088C>A (p.Thr1363Lys)
c.1985C>A (p.Thr662Lys)
c.4427C>A (p.Thr1476Lys)
c.4418C>A (p.Thr1473Lys)
c.4409C>A (p.Thr1470Lys)
c.2747C>A (p.Thr916Lys)
Xg.108687578C>GCA413854243COL4A5c.4412C>G (p.Thr1471Arg)
c.4394C>G (p.Thr1465Arg)
n.906C>G
c.208C>G
c.4403C>G (p.Thr1468Arg)
c.4088C>G (p.Thr1363Arg)
c.1985C>G (p.Thr662Arg)
c.4427C>G (p.Thr1476Arg)
c.4418C>G (p.Thr1473Arg)
c.4409C>G (p.Thr1470Arg)
c.2747C>G (p.Thr916Arg)
Xg.108687578C>TCA413854244COL4A5c.4412C>T (p.Thr1471Ile)
c.4394C>T (p.Thr1465Ile)
n.906C>T
c.208C>T
c.4403C>T (p.Thr1468Ile)
c.4088C>T (p.Thr1363Ile)
c.1985C>T (p.Thr662Ile)
c.4427C>T (p.Thr1476Ile)
c.4418C>T (p.Thr1473Ile)
c.4409C>T (p.Thr1470Ile)
c.2747C>T (p.Thr916Ile)
Xg.108687579A>CCA517924562COL4A5c.4413A>C (p.Thr1471=)
c.4395A>C (p.Thr1465=)
n.907A>C
c.209A>C
c.4404A>C (p.Thr1468=)
c.4089A>C (p.Thr1363=)
c.1986A>C (p.Thr662=)
c.4428A>C (p.Thr1476=)
c.4419A>C (p.Thr1473=)
c.4410A>C (p.Thr1470=)
c.2748A>C (p.Thr916=)
 gnomAD v4
Xg.108687579A>GCA517924563COL4A5c.4413A>G (p.Thr1471=)
c.4395A>G (p.Thr1465=)
n.907A>G
c.209A>G
c.4404A>G (p.Thr1468=)
c.4089A>G (p.Thr1363=)
c.1986A>G (p.Thr662=)
c.4428A>G (p.Thr1476=)
c.4419A>G (p.Thr1473=)
c.4410A>G (p.Thr1470=)
c.2748A>G (p.Thr916=)
 gnomAD v4
Xg.108687579A>TCA517924564COL4A5c.4413A>T (p.Thr1471=)
c.4395A>T (p.Thr1465=)
n.907A>T
c.209A>T
c.4404A>T (p.Thr1468=)
c.4089A>T (p.Thr1363=)
c.1986A>T (p.Thr662=)
c.4428A>T (p.Thr1476=)
c.4419A>T (p.Thr1473=)
c.4410A>T (p.Thr1470=)
c.2748A>T (p.Thr916=)
Xg.108687580C>ACA413854247COL4A5c.4414C>A (p.Arg1472Ser)
c.4396C>A (p.Arg1466Ser)
n.908C>A
c.210C>A
c.4405C>A (p.Arg1469Ser)
c.4090C>A (p.Arg1364Ser)
c.1987C>A (p.Arg663Ser)
c.4429C>A (p.Arg1477Ser)
c.4420C>A (p.Arg1474Ser)
c.4411C>A (p.Arg1471Ser)
c.2749C>A (p.Arg917Ser)
Xg.108687580C=CA2450719086COL4A5c.4414C= (p.Arg1472=)
c.4396C= (p.Arg1466=)
n.908C=
c.210C=
c.4405C= (p.Arg1469=)
c.4090C= (p.Arg1364=)
c.1987C= (p.Arg663=)
c.4429C= (p.Arg1477=)
c.4420C= (p.Arg1474=)
c.4411C= (p.Arg1471=)
c.2749C= (p.Arg917=)
Xg.108687580C>GCA413854249COL4A5c.4414C>G (p.Arg1472Gly)
c.4396C>G (p.Arg1466Gly)
n.908C>G
c.210C>G
c.4405C>G (p.Arg1469Gly)
c.4090C>G (p.Arg1364Gly)
c.1987C>G (p.Arg663Gly)
c.4429C>G (p.Arg1477Gly)
c.4420C>G (p.Arg1474Gly)
c.4411C>G (p.Arg1471Gly)
c.2749C>G (p.Arg917Gly)
Xg.108687580C>TCA10489349COL4A5c.4414C>T (p.Arg1472Cys)
c.4396C>T (p.Arg1466Cys)
n.908C>T
c.210C>T
c.4405C>T (p.Arg1469Cys)
c.4090C>T (p.Arg1364Cys)
c.1987C>T (p.Arg663Cys)
c.4429C>T (p.Arg1477Cys)
c.4420C>T (p.Arg1474Cys)
c.4411C>T (p.Arg1471Cys)
c.2749C>T (p.Arg917Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.108687581G>ACA413854253COL4A5c.4415G>A (p.Arg1472His)
c.4397G>A (p.Arg1466His)
n.909G>A
c.211G>A
c.4406G>A (p.Arg1469His)
c.4091G>A (p.Arg1364His)
c.1988G>A (p.Arg663His)
c.4430G>A (p.Arg1477His)
c.4421G>A (p.Arg1474His)
c.4412G>A (p.Arg1471His)
c.2750G>A (p.Arg917His)
 dbSNP gnomAD v4
Xg.108687581G>CCA413854255COL4A5c.4415G>C (p.Arg1472Pro)
c.4397G>C (p.Arg1466Pro)
n.909G>C
c.211G>C
c.4406G>C (p.Arg1469Pro)
c.4091G>C (p.Arg1364Pro)
c.1988G>C (p.Arg663Pro)
c.4430G>C (p.Arg1477Pro)
c.4421G>C (p.Arg1474Pro)
c.4412G>C (p.Arg1471Pro)
c.2750G>C (p.Arg917Pro)
Xg.108687581G=CA2450719091COL4A5c.4415G= (p.Arg1472=)
c.4397G= (p.Arg1466=)
n.909G=
c.211G=
c.4406G= (p.Arg1469=)
c.4091G= (p.Arg1364=)
c.1988G= (p.Arg663=)
c.4430G= (p.Arg1477=)
c.4421G= (p.Arg1474=)
c.4412G= (p.Arg1471=)
c.2750G= (p.Arg917=)
Xg.108687581G>TCA413854257COL4A5c.4415G>T (p.Arg1472Leu)
c.4397G>T (p.Arg1466Leu)
n.909G>T
c.211G>T
c.4406G>T (p.Arg1469Leu)
c.4091G>T (p.Arg1364Leu)
c.1988G>T (p.Arg663Leu)
c.4430G>T (p.Arg1477Leu)
c.4421G>T (p.Arg1474Leu)
c.4412G>T (p.Arg1471Leu)
c.2750G>T (p.Arg917Leu)
Xg.108687581_108687582delinsCTCA2573159110COL4A5c.4415_4416delinsCT (p.Arg1472Pro)
c.4397_4398delinsCT (p.Arg1466Pro)
n.909_910delinsCT
c.211_212delinsCT
c.4406_4407delinsCT (p.Arg1469Pro)
c.4091_4092delinsCT (p.Arg1364Pro)
c.1988_1989delinsCT (p.Arg663Pro)
c.4430_4431delinsCT (p.Arg1477Pro)
c.4421_4422delinsCT (p.Arg1474Pro)
c.4412_4413delinsCT (p.Arg1471Pro)
c.2750_2751delinsCT (p.Arg917Pro)
 ClinVar dbSNP
Xg.108687582C>ACA517924569COL4A5c.4416C>A (p.Arg1472=)
c.4398C>A (p.Arg1466=)
n.910C>A
c.212C>A
c.4407C>A (p.Arg1469=)
c.4092C>A (p.Arg1364=)
c.1989C>A (p.Arg663=)
c.4431C>A (p.Arg1477=)
c.4422C>A (p.Arg1474=)
c.4413C>A (p.Arg1471=)
c.2751C>A (p.Arg917=)
 gnomAD v4
Xg.108687582C=CA2450719104COL4A5c.4416C= (p.Arg1472=)
c.4398C= (p.Arg1466=)
n.910C=
c.212C=
c.4407C= (p.Arg1469=)
c.4092C= (p.Arg1364=)
c.1989C= (p.Arg663=)
c.4431C= (p.Arg1477=)
c.4422C= (p.Arg1474=)
c.4413C= (p.Arg1471=)
c.2751C= (p.Arg917=)
Xg.108687582C>GCA517924570COL4A5c.4416C>G (p.Arg1472=)
c.4398C>G (p.Arg1466=)
n.910C>G
c.212C>G
c.4407C>G (p.Arg1469=)
c.4092C>G (p.Arg1364=)
c.1989C>G (p.Arg663=)
c.4431C>G (p.Arg1477=)
c.4422C>G (p.Arg1474=)
c.4413C>G (p.Arg1471=)
c.2751C>G (p.Arg917=)
Xg.108687582C>TCA517924568COL4A5c.4416C>T (p.Arg1472=)
c.4398C>T (p.Arg1466=)
n.910C>T
c.212C>T
c.4407C>T (p.Arg1469=)
c.4092C>T (p.Arg1364=)
c.1989C>T (p.Arg663=)
c.4431C>T (p.Arg1477=)
c.4422C>T (p.Arg1474=)
c.4413C>T (p.Arg1471=)
c.2751C>T (p.Arg917=)
Xg.108687583C>ACA413854259COL4A5c.4417C>A (p.His1473Asn)
c.4399C>A (p.His1467Asn)
n.911C>A
c.213C>A
c.4408C>A (p.His1470Asn)
c.4093C>A (p.His1365Asn)
c.1990C>A (p.His664Asn)
c.4432C>A (p.His1478Asn)
c.4423C>A (p.His1475Asn)
c.4414C>A (p.His1472Asn)
c.2752C>A (p.His918Asn)
Xg.108687583C>GCA413854269COL4A5c.4417C>G (p.His1473Asp)
c.4399C>G (p.His1467Asp)
n.911C>G
c.213C>G
c.4408C>G (p.His1470Asp)
c.4093C>G (p.His1365Asp)
c.1990C>G (p.His664Asp)
c.4432C>G (p.His1478Asp)
c.4423C>G (p.His1475Asp)
c.4414C>G (p.His1472Asp)
c.2752C>G (p.His918Asp)
Xg.108687583C>TCA413854265COL4A5c.4417C>T (p.His1473Tyr)
c.4399C>T (p.His1467Tyr)
n.911C>T
c.213C>T
c.4408C>T (p.His1470Tyr)
c.4093C>T (p.His1365Tyr)
c.1990C>T (p.His664Tyr)
c.4432C>T (p.His1478Tyr)
c.4423C>T (p.His1475Tyr)
c.4414C>T (p.His1472Tyr)
c.2752C>T (p.His918Tyr)
 ClinVar
Xg.108687585_108687586dupCA891843689COL4A5c.4419_4420dup (p.Ser1474ThrfsTer?)
c.4401_4402dup (p.Ser1468ThrfsTer?)
n.913_914dup
c.215_216dup
c.4410_4411dup (p.Ser1471ThrfsTer?)
c.4095_4096dup (p.Ser1366ThrfsTer?)
c.1992_1993dup (p.Ser665ThrfsTer?)
c.4434_4435dup (p.Ser1479ThrfsTer?)
c.4425_4426dup (p.Ser1476ThrfsTer?)
c.4416_4417dup (p.Ser1473ThrfsTer?)
c.2754_2755dup (p.Ser919ThrfsTer?)

Number of alleles fetched