Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.227032253C>ACA350837925COL4A4c.3601G>T (p.Gly1201Cys)
c.3046G>T (p.Gly1016Cys)
c.3520G>T (p.Gly1174Cys)
c.3493G>T (p.Gly1165Cys)
c.1927G>T (p.Gly643Cys)
n.3911G>T
c.3484G>T (p.Gly1162Cys)
n.3927G>T
2g.227032253C=CA1332734857COL4A4c.3601G= (p.Gly1201=)
c.3046G= (p.Gly1016=)
c.3520G= (p.Gly1174=)
c.3493G= (p.Gly1165=)
c.1927G= (p.Gly643=)
n.3911G=
c.3484G= (p.Gly1162=)
n.3927G=
2g.227032253C>GCA350837924COL4A4c.3601G>C (p.Gly1201Arg)
c.3046G>C (p.Gly1016Arg)
c.3520G>C (p.Gly1174Arg)
c.3493G>C (p.Gly1165Arg)
c.1927G>C (p.Gly643Arg)
n.3911G>C
c.3484G>C (p.Gly1162Arg)
n.3927G>C
2g.227032253C>TCA257914COL4A4c.3601G>A (p.Gly1201Ser)
c.3046G>A (p.Gly1016Ser)
c.3520G>A (p.Gly1174Ser)
c.3493G>A (p.Gly1165Ser)
c.1927G>A (p.Gly643Ser)
n.3911G>A
c.3484G>A (p.Gly1162Ser)
n.3927G>A
 ClinVar dbSNP
2g.227032254A=CA1332734858COL4A4c.3600T= (p.Pro1200=)
c.3045T= (p.Pro1015=)
c.3519T= (p.Pro1173=)
c.3492T= (p.Pro1164=)
c.1926T= (p.Pro642=)
n.3910T=
c.3483T= (p.Pro1161=)
n.3926T=
2g.227032254A>CCA431663582COL4A4c.3600T>G (p.Pro1200=)
c.3045T>G (p.Pro1015=)
c.3519T>G (p.Pro1173=)
c.3492T>G (p.Pro1164=)
c.1926T>G (p.Pro642=)
n.3910T>G
c.3483T>G (p.Pro1161=)
n.3926T>G
2g.227032254A>GCA431663583COL4A4c.3600T>C (p.Pro1200=)
c.3045T>C (p.Pro1015=)
c.3519T>C (p.Pro1173=)
c.3492T>C (p.Pro1164=)
c.1926T>C (p.Pro642=)
n.3910T>C
c.3483T>C (p.Pro1161=)
n.3926T>C
2g.227032254A>TCA2144474COL4A4c.3600T>A (p.Pro1200=)
c.3045T>A (p.Pro1015=)
c.3519T>A (p.Pro1173=)
c.3492T>A (p.Pro1164=)
c.1926T>A (p.Pro642=)
n.3910T>A
c.3483T>A (p.Pro1161=)
n.3926T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227032255G>ACA350837926COL4A4c.3599C>T (p.Pro1200Leu)
c.3044C>T (p.Pro1015Leu)
c.3518C>T (p.Pro1173Leu)
c.3491C>T (p.Pro1164Leu)
c.1925C>T (p.Pro642Leu)
n.3909C>T
c.3482C>T (p.Pro1161Leu)
n.3925C>T
2g.227032255G>CCA350837927COL4A4c.3599C>G (p.Pro1200Arg)
c.3044C>G (p.Pro1015Arg)
c.3518C>G (p.Pro1173Arg)
c.3491C>G (p.Pro1164Arg)
c.1925C>G (p.Pro642Arg)
n.3909C>G
c.3482C>G (p.Pro1161Arg)
n.3925C>G
2g.227032255G>TCA350837928COL4A4c.3599C>A (p.Pro1200His)
c.3044C>A (p.Pro1015His)
c.3518C>A (p.Pro1173His)
c.3491C>A (p.Pro1164His)
c.1925C>A (p.Pro642His)
n.3909C>A
c.3482C>A (p.Pro1161His)
n.3925C>A
2g.227032256G>ACA350837929COL4A4c.3598C>T (p.Pro1200Ser)
c.3043C>T (p.Pro1015Ser)
c.3517C>T (p.Pro1173Ser)
c.3490C>T (p.Pro1164Ser)
c.1924C>T (p.Pro642Ser)
n.3908C>T
c.3481C>T (p.Pro1161Ser)
n.3924C>T
2g.227032256G>CCA350837930COL4A4c.3598C>G (p.Pro1200Ala)
c.3043C>G (p.Pro1015Ala)
c.3517C>G (p.Pro1173Ala)
c.3490C>G (p.Pro1164Ala)
c.1924C>G (p.Pro642Ala)
n.3908C>G
c.3481C>G (p.Pro1161Ala)
n.3924C>G
2g.227032256G>TCA350837931COL4A4c.3598C>A (p.Pro1200Thr)
c.3043C>A (p.Pro1015Thr)
c.3517C>A (p.Pro1173Thr)
c.3490C>A (p.Pro1164Thr)
c.1924C>A (p.Pro642Thr)
n.3908C>A
c.3481C>A (p.Pro1161Thr)
n.3924C>A
2g.227032257T>ACA431663590COL4A4c.3597A>T (p.Pro1199=)
c.3042A>T (p.Pro1014=)
c.3516A>T (p.Pro1172=)
c.3489A>T (p.Pro1163=)
c.1923A>T (p.Pro641=)
n.3907A>T
c.3480A>T (p.Pro1160=)
n.3923A>T
2g.227032257T>CCA431663591COL4A4c.3597A>G (p.Pro1199=)
c.3042A>G (p.Pro1014=)
c.3516A>G (p.Pro1172=)
c.3489A>G (p.Pro1163=)
c.1923A>G (p.Pro641=)
n.3907A>G
c.3480A>G (p.Pro1160=)
n.3923A>G
2g.227032257T>GCA431663593COL4A4c.3597A>C (p.Pro1199=)
c.3042A>C (p.Pro1014=)
c.3516A>C (p.Pro1172=)
c.3489A>C (p.Pro1163=)
c.1923A>C (p.Pro641=)
n.3907A>C
c.3480A>C (p.Pro1160=)
n.3923A>C
2g.227032258G>ACA350837932COL4A4c.3596C>T (p.Pro1199Leu)
c.3041C>T (p.Pro1014Leu)
c.3515C>T (p.Pro1172Leu)
c.3488C>T (p.Pro1163Leu)
c.1922C>T (p.Pro641Leu)
n.3906C>T
c.3479C>T (p.Pro1160Leu)
n.3922C>T
 gnomAD v4
2g.227032258G>CCA350837934COL4A4c.3596C>G (p.Pro1199Arg)
c.3041C>G (p.Pro1014Arg)
c.3515C>G (p.Pro1172Arg)
c.3488C>G (p.Pro1163Arg)
c.1922C>G (p.Pro641Arg)
n.3906C>G
c.3479C>G (p.Pro1160Arg)
n.3922C>G
2g.227032258G>TCA350837933COL4A4c.3596C>A (p.Pro1199Gln)
c.3041C>A (p.Pro1014Gln)
c.3515C>A (p.Pro1172Gln)
c.3488C>A (p.Pro1163Gln)
c.1922C>A (p.Pro641Gln)
n.3906C>A
c.3479C>A (p.Pro1160Gln)
n.3922C>A
2g.227032259G>ACA350837935COL4A4c.3595C>T (p.Pro1199Ser)
c.3040C>T (p.Pro1014Ser)
c.3514C>T (p.Pro1172Ser)
c.3487C>T (p.Pro1163Ser)
c.1921C>T (p.Pro641Ser)
n.3905C>T
c.3478C>T (p.Pro1160Ser)
n.3921C>T
2g.227032259G>CCA350837936COL4A4c.3595C>G (p.Pro1199Ala)
c.3040C>G (p.Pro1014Ala)
c.3514C>G (p.Pro1172Ala)
c.3487C>G (p.Pro1163Ala)
c.1921C>G (p.Pro641Ala)
n.3905C>G
c.3478C>G (p.Pro1160Ala)
n.3921C>G
2g.227032259G>TCA350837937COL4A4c.3595C>A (p.Pro1199Thr)
c.3040C>A (p.Pro1014Thr)
c.3514C>A (p.Pro1172Thr)
c.3487C>A (p.Pro1163Thr)
c.1921C>A (p.Pro641Thr)
n.3905C>A
c.3478C>A (p.Pro1160Thr)
n.3921C>A
2g.227032259_227032261delinsGCCCA1332734859COL4A4c.3593_3595delinsGGC (p.Gly1198=)
c.3038_3040delinsGGC (p.Gly1013=)
c.3512_3514delinsGGC (p.Gly1171=)
c.3485_3487delinsGGC (p.Gly1162=)
c.1919_1921delinsGGC (p.Gly640=)
n.3903_3905delinsGGC
c.3476_3478delinsGGC (p.Gly1159=)
n.3919_3921delinsGGC
2g.227032260C>ACA431663597COL4A4c.3594G>T (p.Gly1198=)
c.3039G>T (p.Gly1013=)
c.3513G>T (p.Gly1171=)
c.3486G>T (p.Gly1162=)
c.1920G>T (p.Gly640=)
n.3904G>T
c.3477G>T (p.Gly1159=)
n.3920G>T
2g.227032260C=CA1332734861COL4A4c.3594G= (p.Gly1198=)
c.3039G= (p.Gly1013=)
c.3513G= (p.Gly1171=)
c.3486G= (p.Gly1162=)
c.1920G= (p.Gly640=)
n.3904G=
c.3477G= (p.Gly1159=)
n.3920G=
2g.227032260C>GCA431663598COL4A4c.3594G>C (p.Gly1198=)
c.3039G>C (p.Gly1013=)
c.3513G>C (p.Gly1171=)
c.3486G>C (p.Gly1162=)
c.1920G>C (p.Gly640=)
n.3904G>C
c.3477G>C (p.Gly1159=)
n.3920G>C
 dbSNP
2g.227032260C>TCA2144475COL4A4c.3594G>A (p.Gly1198=)
c.3039G>A (p.Gly1013=)
c.3513G>A (p.Gly1171=)
c.3486G>A (p.Gly1162=)
c.1920G>A (p.Gly640=)
n.3904G>A
c.3477G>A (p.Gly1159=)
n.3920G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227032263delCA2580065888COL4A4c.3594del (p.Pro1199HisfsTer10)
c.3039del (p.Pro1014HisfsTer10)
c.3513del (p.Pro1172HisfsTer10)
c.3486del (p.Pro1163HisfsTer10)
c.1920del (p.Pro641HisfsTer10)
n.3904del
c.3477del (p.Pro1160HisfsTer10)
n.3920del
 ClinVar
2g.227032262_227032263delCA1332734860COL4A4c.3593_3594del (p.Gly1198AlafsTer?)
c.3038_3039del (p.Gly1013AlafsTer?)
c.3512_3513del (p.Gly1171AlafsTer?)
c.3485_3486del (p.Gly1162AlafsTer?)
c.1919_1920del (p.Gly640AlafsTer?)
n.3903_3904del
c.3476_3477del (p.Gly1159AlafsTer?)
n.3919_3920del
 ClinVar dbSNP gnomAD v4
2g.227032261C>ACA350837938COL4A4c.3593G>T (p.Gly1198Val)
c.3038G>T (p.Gly1013Val)
c.3512G>T (p.Gly1171Val)
c.3485G>T (p.Gly1162Val)
c.1919G>T (p.Gly640Val)
n.3903G>T
c.3476G>T (p.Gly1159Val)
n.3919G>T
 dbSNP
2g.227032261C=CA1332734862COL4A4c.3593G= (p.Gly1198=)
c.3038G= (p.Gly1013=)
c.3512G= (p.Gly1171=)
c.3485G= (p.Gly1162=)
c.1919G= (p.Gly640=)
n.3903G=
c.3476G= (p.Gly1159=)
n.3919G=
2g.227032261C>GCA350837940COL4A4c.3593G>C (p.Gly1198Ala)
c.3038G>C (p.Gly1013Ala)
c.3512G>C (p.Gly1171Ala)
c.3485G>C (p.Gly1162Ala)
c.1919G>C (p.Gly640Ala)
n.3903G>C
c.3476G>C (p.Gly1159Ala)
n.3919G>C
2g.227032261C>TCA350837939COL4A4c.3593G>A (p.Gly1198Glu)
c.3038G>A (p.Gly1013Glu)
c.3512G>A (p.Gly1171Glu)
c.3485G>A (p.Gly1162Glu)
c.1919G>A (p.Gly640Glu)
n.3903G>A
c.3476G>A (p.Gly1159Glu)
n.3919G>A
2g.227032261_227032262insAGGGTCTCCTCTCTCCCCTTTTAGCCCAGGTATTCCCACTGGACCAGGTGGTCCA1043044301COL4A4c.3593_3594insACCACCTGGTCCAGTGGGAATACCTGGGCTAAAAGGGGAGAGAGGAGACCCTG (p.Ser1217HisfsTer10)
c.3038_3039insACCACCTGGTCCAGTGGGAATACCTGGGCTAAAAGGGGAGAGAGGAGACCCTG (p.Ser1032HisfsTer10)
c.3512_3513insACCACCTGGTCCAGTGGGAATACCTGGGCTAAAAGGGGAGAGAGGAGACCCTG (p.Ser1190HisfsTer10)
c.3485_3486insACCACCTGGTCCAGTGGGAATACCTGGGCTAAAAGGGGAGAGAGGAGACCCTG (p.Ser1181HisfsTer10)
c.1919_1920insACCACCTGGTCCAGTGGGAATACCTGGGCTAAAAGGGGAGAGAGGAGACCCTG (p.Ser659HisfsTer10)
n.3903_3904insACCACCTGGTCCAGTGGGAATACCTGGGCTAAAAGGGGAGAGAGGAGACCCTG
c.3476_3477insACCACCTGGTCCAGTGGGAATACCTGGGCTAAAAGGGGAGAGAGGAGACCCTG (p.Ser1178HisfsTer10)
n.3919_3920insACCACCTGGTCCAGTGGGAATACCTGGGCTAAAAGGGGAGAGAGGAGACCCTG
 gnomAD v3 gnomAD v4
2g.227032262C>ACA350837941COL4A4c.3592G>T (p.Gly1198Trp)
c.3037G>T (p.Gly1013Trp)
c.3511G>T (p.Gly1171Trp)
c.3484G>T (p.Gly1162Trp)
c.1918G>T (p.Gly640Trp)
n.3902G>T
c.3475G>T (p.Gly1159Trp)
n.3918G>T
2g.227032262C=CA1332734863COL4A4c.3592G= (p.Gly1198=)
c.3037G= (p.Gly1013=)
c.3511G= (p.Gly1171=)
c.3484G= (p.Gly1162=)
c.1918G= (p.Gly640=)
n.3902G=
c.3475G= (p.Gly1159=)
n.3918G=
2g.227032262C>GCA350837942COL4A4c.3592G>C (p.Gly1198Arg)
c.3037G>C (p.Gly1013Arg)
c.3511G>C (p.Gly1171Arg)
c.3484G>C (p.Gly1162Arg)
c.1918G>C (p.Gly640Arg)
n.3902G>C
c.3475G>C (p.Gly1159Arg)
n.3918G>C
2g.227032262C>TCA350837943COL4A4c.3592G>A (p.Gly1198Arg)
c.3037G>A (p.Gly1013Arg)
c.3511G>A (p.Gly1171Arg)
c.3484G>A (p.Gly1162Arg)
c.1918G>A (p.Gly640Arg)
n.3902G>A
c.3475G>A (p.Gly1159Arg)
n.3918G>A
 dbSNP gnomAD v2 gnomAD v4
2g.227032263C>ACA431663603COL4A4c.3591G>T (p.Val1197=)
c.3036G>T (p.Val1012=)
c.3510G>T (p.Val1170=)
c.3483G>T (p.Val1161=)
c.1917G>T (p.Val639=)
n.3901G>T
c.3474G>T (p.Val1158=)
n.3917G>T
 gnomAD v4
2g.227032263C=CA1332734864COL4A4c.3591G= (p.Val1197=)
c.3036G= (p.Val1012=)
c.3510G= (p.Val1170=)
c.3483G= (p.Val1161=)
c.1917G= (p.Val639=)
n.3901G=
c.3474G= (p.Val1158=)
n.3917G=
2g.227032263C>GCA431663604COL4A4c.3591G>C (p.Val1197=)
c.3036G>C (p.Val1012=)
c.3510G>C (p.Val1170=)
c.3483G>C (p.Val1161=)
c.1917G>C (p.Val639=)
n.3901G>C
c.3474G>C (p.Val1158=)
n.3917G>C
 dbSNP gnomAD v2 gnomAD v4
2g.227032263C>TCA2144476COL4A4c.3591G>A (p.Val1197=)
c.3036G>A (p.Val1012=)
c.3510G>A (p.Val1170=)
c.3483G>A (p.Val1161=)
c.1917G>A (p.Val639=)
n.3901G>A
c.3474G>A (p.Val1158=)
n.3917G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227032264A=CA1332734865COL4A4c.3590T= (p.Val1197=)
c.3035T= (p.Val1012=)
c.3509T= (p.Val1170=)
c.3482T= (p.Val1161=)
c.1916T= (p.Val639=)
n.3900T=
c.3473T= (p.Val1158=)
n.3916T=
2g.227032264A>CCA350837944COL4A4c.3590T>G (p.Val1197Gly)
c.3035T>G (p.Val1012Gly)
c.3509T>G (p.Val1170Gly)
c.3482T>G (p.Val1161Gly)
c.1916T>G (p.Val639Gly)
n.3900T>G
c.3473T>G (p.Val1158Gly)
n.3916T>G
2g.227032264A>GCA66562006COL4A4c.3590T>C (p.Val1197Ala)
c.3035T>C (p.Val1012Ala)
c.3509T>C (p.Val1170Ala)
c.3482T>C (p.Val1161Ala)
c.1916T>C (p.Val639Ala)
n.3900T>C
c.3473T>C (p.Val1158Ala)
n.3916T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.227032264A>TCA350837945COL4A4c.3590T>A (p.Val1197Glu)
c.3035T>A (p.Val1012Glu)
c.3509T>A (p.Val1170Glu)
c.3482T>A (p.Val1161Glu)
c.1916T>A (p.Val639Glu)
n.3900T>A
c.3473T>A (p.Val1158Glu)
n.3916T>A
2g.227032264_227032267delCA913089952COL4A4c.3587_3590del (p.Asp1196GlyfsTer12)
c.3032_3035del (p.Asp1011GlyfsTer12)
c.3506_3509del (p.Asp1169GlyfsTer12)
c.3479_3482del (p.Asp1160GlyfsTer12)
c.1913_1916del (p.Asp638GlyfsTer12)
n.3897_3900del
c.3470_3473del (p.Asp1157GlyfsTer12)
n.3913_3916del
2g.227032264_227032267delinsACATCA1332734866COL4A4c.3587_3590delinsATGT (p.Asp1196=)
c.3032_3035delinsATGT (p.Asp1011=)
c.3506_3509delinsATGT (p.Asp1169=)
c.3479_3482delinsATGT (p.Asp1160=)
c.1913_1916delinsATGT (p.Asp638=)
n.3897_3900delinsATGT
c.3470_3473delinsATGT (p.Asp1157=)
n.3913_3916delinsATGT
2g.227032265C>ACA350837946COL4A4c.3589G>T (p.Val1197Leu)
c.3034G>T (p.Val1012Leu)
c.3508G>T (p.Val1170Leu)
c.3481G>T (p.Val1161Leu)
c.1915G>T (p.Val639Leu)
n.3899G>T
c.3472G>T (p.Val1158Leu)
n.3915G>T
 gnomAD v4

Number of alleles fetched