Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108681754_108681765delCA2694442863COL4A5c.4088-6_4093del
c.4070-6_4075del
n.582-6_587del
n.491-6_496del
c.4079-6_4084del
c.3764-6_3769del
c.1661-6_1666del
c.4103-6_4108del
c.4094-6_4099del
c.4085-6_4090del
c.2423-6_2428del
gnomAD v4
Xg.108681764T>ACA517923787COL4A5c.4092T>A (p.Pro1364=)
c.4074T>A (p.Pro1358=)
n.586T>A
n.495T>A
c.4083T>A (p.Pro1361=)
c.3768T>A (p.Pro1256=)
c.1665T>A (p.Pro555=)
c.4107T>A (p.Pro1369=)
c.4098T>A (p.Pro1366=)
c.4089T>A (p.Pro1363=)
c.2427T>A (p.Pro809=)
Xg.108681764T>CCA517923788COL4A5c.4092T>C (p.Pro1364=)
c.4074T>C (p.Pro1358=)
n.586T>C
n.495T>C
c.4083T>C (p.Pro1361=)
c.3768T>C (p.Pro1256=)
c.1665T>C (p.Pro555=)
c.4107T>C (p.Pro1369=)
c.4098T>C (p.Pro1366=)
c.4089T>C (p.Pro1363=)
c.2427T>C (p.Pro809=)
Xg.108681764T>GCA517923789COL4A5c.4092T>G (p.Pro1364=)
c.4074T>G (p.Pro1358=)
n.586T>G
n.495T>G
c.4083T>G (p.Pro1361=)
c.3768T>G (p.Pro1256=)
c.1665T>G (p.Pro555=)
c.4107T>G (p.Pro1369=)
c.4098T>G (p.Pro1366=)
c.4089T>G (p.Pro1363=)
c.2427T>G (p.Pro809=)
Xg.108681765C>ACA413851878COL4A5c.4093C>A (p.Pro1365Thr)
c.4075C>A (p.Pro1359Thr)
n.587C>A
n.496C>A
c.4084C>A (p.Pro1362Thr)
c.3769C>A (p.Pro1257Thr)
c.1666C>A (p.Pro556Thr)
c.4108C>A (p.Pro1370Thr)
c.4099C>A (p.Pro1367Thr)
c.4090C>A (p.Pro1364Thr)
c.2428C>A (p.Pro810Thr)
dbSNP gnomAD v2 gnomAD v4
Xg.108681765C=CA2450717217COL4A5c.4093C= (p.Pro1365=)
c.4075C= (p.Pro1359=)
n.587C=
n.496C=
c.4084C= (p.Pro1362=)
c.3769C= (p.Pro1257=)
c.1666C= (p.Pro556=)
c.4108C= (p.Pro1370=)
c.4099C= (p.Pro1367=)
c.4090C= (p.Pro1364=)
c.2428C= (p.Pro810=)
Xg.108681765C>GCA413851876COL4A5c.4093C>G (p.Pro1365Ala)
c.4075C>G (p.Pro1359Ala)
n.587C>G
n.496C>G
c.4084C>G (p.Pro1362Ala)
c.3769C>G (p.Pro1257Ala)
c.1666C>G (p.Pro556Ala)
c.4108C>G (p.Pro1370Ala)
c.4099C>G (p.Pro1367Ala)
c.4090C>G (p.Pro1364Ala)
c.2428C>G (p.Pro810Ala)
gnomAD v4
Xg.108681765C>TCA413851877COL4A5c.4093C>T (p.Pro1365Ser)
c.4075C>T (p.Pro1359Ser)
n.587C>T
n.496C>T
c.4084C>T (p.Pro1362Ser)
c.3769C>T (p.Pro1257Ser)
c.1666C>T (p.Pro556Ser)
c.4108C>T (p.Pro1370Ser)
c.4099C>T (p.Pro1367Ser)
c.4090C>T (p.Pro1364Ser)
c.2428C>T (p.Pro810Ser)
COSMIC COSMIC
Xg.108681766C>ACA413851881COL4A5c.4094C>A (p.Pro1365His)
c.4076C>A (p.Pro1359His)
n.588C>A
n.497C>A
c.4085C>A (p.Pro1362His)
c.3770C>A (p.Pro1257His)
c.1667C>A (p.Pro556His)
c.4109C>A (p.Pro1370His)
c.4100C>A (p.Pro1367His)
c.4091C>A (p.Pro1364His)
c.2429C>A (p.Pro810His)
Xg.108681766C>GCA413851887COL4A5c.4094C>G (p.Pro1365Arg)
c.4076C>G (p.Pro1359Arg)
n.588C>G
n.497C>G
c.4085C>G (p.Pro1362Arg)
c.3770C>G (p.Pro1257Arg)
c.1667C>G (p.Pro556Arg)
c.4109C>G (p.Pro1370Arg)
c.4100C>G (p.Pro1367Arg)
c.4091C>G (p.Pro1364Arg)
c.2429C>G (p.Pro810Arg)
Xg.108681766C>TCA413851889COL4A5c.4094C>T (p.Pro1365Leu)
c.4076C>T (p.Pro1359Leu)
n.588C>T
n.497C>T
c.4085C>T (p.Pro1362Leu)
c.3770C>T (p.Pro1257Leu)
c.1667C>T (p.Pro556Leu)
c.4109C>T (p.Pro1370Leu)
c.4100C>T (p.Pro1367Leu)
c.4091C>T (p.Pro1364Leu)
c.2429C>T (p.Pro810Leu)
ClinVar
Xg.108681767T>ACA517923790COL4A5c.4095T>A (p.Pro1365=)
c.4077T>A (p.Pro1359=)
n.589T>A
n.498T>A
c.4086T>A (p.Pro1362=)
c.3771T>A (p.Pro1257=)
c.1668T>A (p.Pro556=)
c.4110T>A (p.Pro1370=)
c.4101T>A (p.Pro1367=)
c.4092T>A (p.Pro1364=)
c.2430T>A (p.Pro810=)
Xg.108681767T>CCA517923791COL4A5c.4095T>C (p.Pro1365=)
c.4077T>C (p.Pro1359=)
n.589T>C
n.498T>C
c.4086T>C (p.Pro1362=)
c.3771T>C (p.Pro1257=)
c.1668T>C (p.Pro556=)
c.4110T>C (p.Pro1370=)
c.4101T>C (p.Pro1367=)
c.4092T>C (p.Pro1364=)
c.2430T>C (p.Pro810=)
Xg.108681767T>GCA517923792COL4A5c.4095T>G (p.Pro1365=)
c.4077T>G (p.Pro1359=)
n.589T>G
n.498T>G
c.4086T>G (p.Pro1362=)
c.3771T>G (p.Pro1257=)
c.1668T>G (p.Pro556=)
c.4110T>G (p.Pro1370=)
c.4101T>G (p.Pro1367=)
c.4092T>G (p.Pro1364=)
c.2430T>G (p.Pro810=)
Xg.108681768G>ACA413851891COL4A5c.4096G>A (p.Gly1366Arg)
c.4078G>A (p.Gly1360Arg)
n.590G>A
n.499G>A
c.4087G>A (p.Gly1363Arg)
c.3772G>A (p.Gly1258Arg)
c.1669G>A (p.Gly557Arg)
c.4111G>A (p.Gly1371Arg)
c.4102G>A (p.Gly1368Arg)
c.4093G>A (p.Gly1365Arg)
c.2431G>A (p.Gly811Arg)
Xg.108681768G>CCA413851893COL4A5c.4096G>C (p.Gly1366Arg)
c.4078G>C (p.Gly1360Arg)
n.590G>C
n.499G>C
c.4087G>C (p.Gly1363Arg)
c.3772G>C (p.Gly1258Arg)
c.1669G>C (p.Gly557Arg)
c.4111G>C (p.Gly1371Arg)
c.4102G>C (p.Gly1368Arg)
c.4093G>C (p.Gly1365Arg)
c.2431G>C (p.Gly811Arg)
Xg.108681768G>TCA413851895COL4A5c.4096G>T (p.Gly1366Ter)
c.4078G>T (p.Gly1360Ter)
n.590G>T
n.499G>T
c.4087G>T (p.Gly1363Ter)
c.3772G>T (p.Gly1258Ter)
c.1669G>T (p.Gly557Ter)
c.4111G>T (p.Gly1371Ter)
c.4102G>T (p.Gly1368Ter)
c.4093G>T (p.Gly1365Ter)
c.2431G>T (p.Gly811Ter)
Xg.108681769G>ACA413851896COL4A5c.4097G>A (p.Gly1366Glu)
c.4079G>A (p.Gly1360Glu)
n.591G>A
n.500G>A
c.4088G>A (p.Gly1363Glu)
c.3773G>A (p.Gly1258Glu)
c.1670G>A (p.Gly557Glu)
c.4112G>A (p.Gly1371Glu)
c.4103G>A (p.Gly1368Glu)
c.4094G>A (p.Gly1365Glu)
c.2432G>A (p.Gly811Glu)
gnomAD v4
Xg.108681769G>CCA413851898COL4A5c.4097G>C (p.Gly1366Ala)
c.4079G>C (p.Gly1360Ala)
n.591G>C
n.500G>C
c.4088G>C (p.Gly1363Ala)
c.3773G>C (p.Gly1258Ala)
c.1670G>C (p.Gly557Ala)
c.4112G>C (p.Gly1371Ala)
c.4103G>C (p.Gly1368Ala)
c.4094G>C (p.Gly1365Ala)
c.2432G>C (p.Gly811Ala)
Xg.108681769G>TCA413851900COL4A5c.4097G>T (p.Gly1366Val)
c.4079G>T (p.Gly1360Val)
n.591G>T
n.500G>T
c.4088G>T (p.Gly1363Val)
c.3773G>T (p.Gly1258Val)
c.1670G>T (p.Gly557Val)
c.4112G>T (p.Gly1371Val)
c.4103G>T (p.Gly1368Val)
c.4094G>T (p.Gly1365Val)
c.2432G>T (p.Gly811Val)
Xg.108681769_108681770delinsTCCA2580100211COL4A5c.4097_4098delinsTC (p.Gly1366Val)
c.4079_4080delinsTC (p.Gly1360Val)
n.591_592delinsTC
n.500_501delinsTC
c.4088_4089delinsTC (p.Gly1363Val)
c.3773_3774delinsTC (p.Gly1258Val)
c.1670_1671delinsTC (p.Gly557Val)
c.4112_4113delinsTC (p.Gly1371Val)
c.4103_4104delinsTC (p.Gly1368Val)
c.4094_4095delinsTC (p.Gly1365Val)
c.2432_2433delinsTC (p.Gly811Val)
ClinVar
Xg.108681770A=CA2450717218COL4A5c.4098A= (p.Gly1366=)
c.4080A= (p.Gly1360=)
n.592A=
n.501A=
c.4089A= (p.Gly1363=)
c.3774A= (p.Gly1258=)
c.1671A= (p.Gly557=)
c.4113A= (p.Gly1371=)
c.4104A= (p.Gly1368=)
c.4095A= (p.Gly1365=)
c.2433A= (p.Gly811=)
Xg.108681770A>CCA517923793COL4A5c.4098A>C (p.Gly1366=)
c.4080A>C (p.Gly1360=)
n.592A>C
n.501A>C
c.4089A>C (p.Gly1363=)
c.3774A>C (p.Gly1258=)
c.1671A>C (p.Gly557=)
c.4113A>C (p.Gly1371=)
c.4104A>C (p.Gly1368=)
c.4095A>C (p.Gly1365=)
c.2433A>C (p.Gly811=)
Xg.108681770A>GCA517923794COL4A5c.4098A>G (p.Gly1366=)
c.4080A>G (p.Gly1360=)
n.592A>G
n.501A>G
c.4089A>G (p.Gly1363=)
c.3774A>G (p.Gly1258=)
c.1671A>G (p.Gly557=)
c.4113A>G (p.Gly1371=)
c.4104A>G (p.Gly1368=)
c.4095A>G (p.Gly1365=)
c.2433A>G (p.Gly811=)
dbSNP
Xg.108681770A>TCA517923795COL4A5c.4098A>T (p.Gly1366=)
c.4080A>T (p.Gly1360=)
n.592A>T
n.501A>T
c.4089A>T (p.Gly1363=)
c.3774A>T (p.Gly1258=)
c.1671A>T (p.Gly557=)
c.4113A>T (p.Gly1371=)
c.4104A>T (p.Gly1368=)
c.4095A>T (p.Gly1365=)
c.2433A>T (p.Gly811=)
Xg.108681771T>ACA413851902COL4A5c.4099T>A (p.Leu1367Ile)
c.4081T>A (p.Leu1361Ile)
n.593T>A
n.502T>A
c.4090T>A (p.Leu1364Ile)
c.3775T>A (p.Leu1259Ile)
c.1672T>A (p.Leu558Ile)
c.4114T>A (p.Leu1372Ile)
c.4105T>A (p.Leu1369Ile)
c.4096T>A (p.Leu1366Ile)
c.2434T>A (p.Leu812Ile)
Xg.108681771T>CCA517923796COL4A5c.4099T>C (p.Leu1367=)
c.4081T>C (p.Leu1361=)
n.593T>C
n.502T>C
c.4090T>C (p.Leu1364=)
c.3775T>C (p.Leu1259=)
c.1672T>C (p.Leu558=)
c.4114T>C (p.Leu1372=)
c.4105T>C (p.Leu1369=)
c.4096T>C (p.Leu1366=)
c.2434T>C (p.Leu812=)
Xg.108681771T>GCA413851904COL4A5c.4099T>G (p.Leu1367Val)
c.4081T>G (p.Leu1361Val)
n.593T>G
n.502T>G
c.4090T>G (p.Leu1364Val)
c.3775T>G (p.Leu1259Val)
c.1672T>G (p.Leu558Val)
c.4114T>G (p.Leu1372Val)
c.4105T>G (p.Leu1369Val)
c.4096T>G (p.Leu1366Val)
c.2434T>G (p.Leu812Val)
Xg.108681772T>ACA413851909COL4A5c.4100T>A (p.Leu1367Ter)
c.4082T>A (p.Leu1361Ter)
n.594T>A
n.503T>A
c.4091T>A (p.Leu1364Ter)
c.3776T>A (p.Leu1259Ter)
c.1673T>A (p.Leu558Ter)
c.4115T>A (p.Leu1372Ter)
c.4106T>A (p.Leu1369Ter)
c.4097T>A (p.Leu1366Ter)
c.2435T>A (p.Leu812Ter)
Xg.108681772T>CCA413851906COL4A5c.4100T>C (p.Leu1367Ser)
c.4082T>C (p.Leu1361Ser)
n.594T>C
n.503T>C
c.4091T>C (p.Leu1364Ser)
c.3776T>C (p.Leu1259Ser)
c.1673T>C (p.Leu558Ser)
c.4115T>C (p.Leu1372Ser)
c.4106T>C (p.Leu1369Ser)
c.4097T>C (p.Leu1366Ser)
c.2435T>C (p.Leu812Ser)
Xg.108681772T>GCA413851908COL4A5c.4100T>G (p.Leu1367Ter)
c.4082T>G (p.Leu1361Ter)
n.594T>G
n.503T>G
c.4091T>G (p.Leu1364Ter)
c.3776T>G (p.Leu1259Ter)
c.1673T>G (p.Leu558Ter)
c.4115T>G (p.Leu1372Ter)
c.4106T>G (p.Leu1369Ter)
c.4097T>G (p.Leu1366Ter)
c.2435T>G (p.Leu812Ter)
Xg.108681773A=CA2450717219COL4A5c.4101A= (p.Leu1367=)
c.4083A= (p.Leu1361=)
n.595A=
n.504A=
c.4092A= (p.Leu1364=)
c.3777A= (p.Leu1259=)
c.1674A= (p.Leu558=)
c.4116A= (p.Leu1372=)
c.4107A= (p.Leu1369=)
c.4098A= (p.Leu1366=)
c.2436A= (p.Leu812=)
Xg.108681773A>CCA413851912COL4A5c.4101A>C (p.Leu1367Phe)
c.4083A>C (p.Leu1361Phe)
n.595A>C
n.504A>C
c.4092A>C (p.Leu1364Phe)
c.3777A>C (p.Leu1259Phe)
c.1674A>C (p.Leu558Phe)
c.4116A>C (p.Leu1372Phe)
c.4107A>C (p.Leu1369Phe)
c.4098A>C (p.Leu1366Phe)
c.2436A>C (p.Leu812Phe)
Xg.108681773A>GCA517923797COL4A5c.4101A>G (p.Leu1367=)
c.4083A>G (p.Leu1361=)
n.595A>G
n.504A>G
c.4092A>G (p.Leu1364=)
c.3777A>G (p.Leu1259=)
c.1674A>G (p.Leu558=)
c.4116A>G (p.Leu1372=)
c.4107A>G (p.Leu1369=)
c.4098A>G (p.Leu1366=)
c.2436A>G (p.Leu812=)
dbSNP gnomAD v4
Xg.108681773A>TCA413851914COL4A5c.4101A>T (p.Leu1367Phe)
c.4083A>T (p.Leu1361Phe)
n.595A>T
n.504A>T
c.4092A>T (p.Leu1364Phe)
c.3777A>T (p.Leu1259Phe)
c.1674A>T (p.Leu558Phe)
c.4116A>T (p.Leu1372Phe)
c.4107A>T (p.Leu1369Phe)
c.4098A>T (p.Leu1366Phe)
c.2436A>T (p.Leu812Phe)
Xg.108681774C>ACA413851917COL4A5c.4102C>A (p.Pro1368Thr)
c.4084C>A (p.Pro1362Thr)
n.596C>A
n.505C>A
c.4093C>A (p.Pro1365Thr)
c.3778C>A (p.Pro1260Thr)
c.1675C>A (p.Pro559Thr)
c.4117C>A (p.Pro1373Thr)
c.4108C>A (p.Pro1370Thr)
c.4099C>A (p.Pro1367Thr)
c.2437C>A (p.Pro813Thr)
Xg.108681774C>GCA413851919COL4A5c.4102C>G (p.Pro1368Ala)
c.4084C>G (p.Pro1362Ala)
n.596C>G
n.505C>G
c.4093C>G (p.Pro1365Ala)
c.3778C>G (p.Pro1260Ala)
c.1675C>G (p.Pro559Ala)
c.4117C>G (p.Pro1373Ala)
c.4108C>G (p.Pro1370Ala)
c.4099C>G (p.Pro1367Ala)
c.2437C>G (p.Pro813Ala)
Xg.108681774C>TCA413851921COL4A5c.4102C>T (p.Pro1368Ser)
c.4084C>T (p.Pro1362Ser)
n.596C>T
n.505C>T
c.4093C>T (p.Pro1365Ser)
c.3778C>T (p.Pro1260Ser)
c.1675C>T (p.Pro559Ser)
c.4117C>T (p.Pro1373Ser)
c.4108C>T (p.Pro1370Ser)
c.4099C>T (p.Pro1367Ser)
c.2437C>T (p.Pro813Ser)
Xg.108681774_108681775insTCA2694442864COL4A5c.4102_4103insT (p.Pro1368LeufsTer11)
c.4084_4085insT (p.Pro1362LeufsTer11)
n.596_597insT
n.505_506insT
c.4093_4094insT (p.Pro1365LeufsTer11)
c.3778_3779insT (p.Pro1260LeufsTer11)
c.1675_1676insT (p.Pro559LeufsTer11)
c.4117_4118insT (p.Pro1373LeufsTer11)
c.4108_4109insT (p.Pro1370LeufsTer11)
c.4099_4100insT (p.Pro1367LeufsTer11)
c.2437_2438insT (p.Pro813LeufsTer11)
gnomAD v4
Xg.108681775C>ACA413851922COL4A5c.4103C>A (p.Pro1368His)
c.4085C>A (p.Pro1362His)
n.597C>A
n.506C>A
c.4094C>A (p.Pro1365His)
c.3779C>A (p.Pro1260His)
c.1676C>A (p.Pro559His)
c.4118C>A (p.Pro1373His)
c.4109C>A (p.Pro1370His)
c.4100C>A (p.Pro1367His)
c.2438C>A (p.Pro813His)
Xg.108681775C>GCA413851923COL4A5c.4103C>G (p.Pro1368Arg)
c.4085C>G (p.Pro1362Arg)
n.597C>G
n.506C>G
c.4094C>G (p.Pro1365Arg)
c.3779C>G (p.Pro1260Arg)
c.1676C>G (p.Pro559Arg)
c.4118C>G (p.Pro1373Arg)
c.4109C>G (p.Pro1370Arg)
c.4100C>G (p.Pro1367Arg)
c.2438C>G (p.Pro813Arg)
Xg.108681775C>TCA413851924COL4A5c.4103C>T (p.Pro1368Leu)
c.4085C>T (p.Pro1362Leu)
n.597C>T
n.506C>T
c.4094C>T (p.Pro1365Leu)
c.3779C>T (p.Pro1260Leu)
c.1676C>T (p.Pro559Leu)
c.4118C>T (p.Pro1373Leu)
c.4109C>T (p.Pro1370Leu)
c.4100C>T (p.Pro1367Leu)
c.2438C>T (p.Pro813Leu)
Xg.108681776T>ACA517923798COL4A5c.4104T>A (p.Pro1368=)
c.4086T>A (p.Pro1362=)
n.598T>A
n.507T>A
c.4095T>A (p.Pro1365=)
c.3780T>A (p.Pro1260=)
c.1677T>A (p.Pro559=)
c.4119T>A (p.Pro1373=)
c.4110T>A (p.Pro1370=)
c.4101T>A (p.Pro1367=)
c.2439T>A (p.Pro813=)
Xg.108681776T>CCA517923800COL4A5c.4104T>C (p.Pro1368=)
c.4086T>C (p.Pro1362=)
n.598T>C
n.507T>C
c.4095T>C (p.Pro1365=)
c.3780T>C (p.Pro1260=)
c.1677T>C (p.Pro559=)
c.4119T>C (p.Pro1373=)
c.4110T>C (p.Pro1370=)
c.4101T>C (p.Pro1367=)
c.2439T>C (p.Pro813=)
Xg.108681776T>GCA517923799COL4A5c.4104T>G (p.Pro1368=)
c.4086T>G (p.Pro1362=)
n.598T>G
n.507T>G
c.4095T>G (p.Pro1365=)
c.3780T>G (p.Pro1260=)
c.1677T>G (p.Pro559=)
c.4119T>G (p.Pro1373=)
c.4110T>G (p.Pro1370=)
c.4101T>G (p.Pro1367=)
c.2439T>G (p.Pro813=)
gnomAD v4
Xg.108681776_108681777delinsTGCA2450717220COL4A5c.4104_4105delinsTG (p.Pro1368=)
c.4086_4087delinsTG (p.Pro1362=)
n.598_599delinsTG
n.507_508delinsTG
c.4095_4096delinsTG (p.Pro1365=)
c.3780_3781delinsTG (p.Pro1260=)
c.1677_1678delinsTG (p.Pro559=)
c.4119_4120delinsTG (p.Pro1373=)
c.4110_4111delinsTG (p.Pro1370=)
c.4101_4102delinsTG (p.Pro1367=)
c.2439_2440delinsTG (p.Pro813=)
Xg.108681777G>ACA413851929COL4A5c.4105G>A (p.Gly1369Ser)
c.4087G>A (p.Gly1363Ser)
n.599G>A
n.508G>A
c.4096G>A (p.Gly1366Ser)
c.3781G>A (p.Gly1261Ser)
c.1678G>A (p.Gly560Ser)
c.4120G>A (p.Gly1374Ser)
c.4111G>A (p.Gly1371Ser)
c.4102G>A (p.Gly1368Ser)
c.2440G>A (p.Gly814Ser)
Xg.108681777G>CCA413851927COL4A5c.4105G>C (p.Gly1369Arg)
c.4087G>C (p.Gly1363Arg)
n.599G>C
n.508G>C
c.4096G>C (p.Gly1366Arg)
c.3781G>C (p.Gly1261Arg)
c.1678G>C (p.Gly560Arg)
c.4120G>C (p.Gly1374Arg)
c.4111G>C (p.Gly1371Arg)
c.4102G>C (p.Gly1368Arg)
c.2440G>C (p.Gly814Arg)
Xg.108681777G>TCA413851925COL4A5c.4105G>T (p.Gly1369Cys)
c.4087G>T (p.Gly1363Cys)
n.599G>T
n.508G>T
c.4096G>T (p.Gly1366Cys)
c.3781G>T (p.Gly1261Cys)
c.1678G>T (p.Gly560Cys)
c.4120G>T (p.Gly1374Cys)
c.4111G>T (p.Gly1371Cys)
c.4102G>T (p.Gly1368Cys)
c.2440G>T (p.Gly814Cys)
Xg.108681778delCA891843686COL4A5c.4106del (p.Gly1369ValfsTer8)
c.4088del (p.Gly1363ValfsTer8)
n.600del
n.509del
c.4097del (p.Gly1366ValfsTer8)
c.3782del (p.Gly1261ValfsTer8)
c.1679del (p.Gly560ValfsTer8)
c.4121del (p.Gly1374ValfsTer8)
c.4112del (p.Gly1371ValfsTer8)
c.4103del (p.Gly1368ValfsTer8)
c.2441del (p.Gly814ValfsTer8)
ClinVar dbSNP gnomAD v4

Number of alleles fetched