OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.104034001_104034002del | CA2695212671 | COL17A1 | c.3854_3855del (p.Phe1285CysfsTer8) c.130_131del c.4100_4101del (p.Phe1367CysfsTer8) | |
| 10 | g.104034002A= | CA1933417869 | COL17A1 | c.3853T= (p.Phe1285=) c.129T= c.4099T= (p.Phe1367=) | |
| 10 | g.104034002A>C | CA378064977 | COL17A1 | c.3853T>G (p.Phe1285Val) c.129T>G c.4099T>G (p.Phe1367Val) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034002A>G | CA378064978 | COL17A1 | c.3853T>C (p.Phe1285Leu) c.129T>C c.4099T>C (p.Phe1367Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034002A>T | CA378064979 | COL17A1 | c.3853T>A (p.Phe1285Ile) c.129T>A c.4099T>A (p.Phe1367Ile) | |
| 10 | g.104034003G>A | CA471341561 | COL17A1 | c.3852C>T (p.Asp1284=) c.128C>T c.4098C>T (p.Asp1366=) | |
| 10 | g.104034003G>C | CA378064981 | COL17A1 | c.3852C>G (p.Asp1284Glu) c.128C>G c.4098C>G (p.Asp1366Glu) | |
| 10 | g.104034003G>T | CA378064980 | COL17A1 | c.3852C>A (p.Asp1284Glu) c.128C>A c.4098C>A (p.Asp1366Glu) | |
| 10 | g.104034004T>A | CA378064982 | COL17A1 | c.3851A>T (p.Asp1284Val) c.127A>T c.4097A>T (p.Asp1366Val) | |
| 10 | g.104034004T>C | CA378064983 | COL17A1 | c.3851A>G (p.Asp1284Gly) c.127A>G c.4097A>G (p.Asp1366Gly) | |
| 10 | g.104034004T>G | CA378064984 | COL17A1 | c.3851A>C (p.Asp1284Ala) c.127A>C c.4097A>C (p.Asp1366Ala) | |
| 10 | g.104034005C>A | CA378064985 | COL17A1 | c.3850G>T (p.Asp1284Tyr) c.126G>T c.4096G>T (p.Asp1366Tyr) | |
| 10 | g.104034005C>G | CA378064986 | COL17A1 | c.3850G>C (p.Asp1284His) c.126G>C c.4096G>C (p.Asp1366His) | COSMIC |
| 10 | g.104034005C>T | CA378064987 | COL17A1 | c.3850G>A (p.Asp1284Asn) c.126G>A c.4096G>A (p.Asp1366Asn) | |
| 10 | g.104034006A>C | CA471341575 | COL17A1 | c.3849T>G (p.Ala1283=) c.125T>G c.4095T>G (p.Ala1365=) | |
| 10 | g.104034006A>G | CA471341577 | COL17A1 | c.3849T>C (p.Ala1283=) c.125T>C c.4095T>C (p.Ala1365=) | |
| 10 | g.104034006A>T | CA471341578 | COL17A1 | c.3849T>A (p.Ala1283=) c.125T>A c.4095T>A (p.Ala1365=) | |
| 10 | g.104034007G>A | CA378064989 | COL17A1 | c.3848C>T (p.Ala1283Val) c.124C>T c.4094C>T (p.Ala1365Val) | |
| 10 | g.104034007G>C | CA378064988 | COL17A1 | c.3848C>G (p.Ala1283Gly) c.124C>G c.4094C>G (p.Ala1365Gly) | |
| 10 | g.104034007G= | CA1933417871 | COL17A1 | c.3848C= (p.Ala1283=) c.124C= c.4094C= (p.Ala1365=) | |
| 10 | g.104034007G>T | CA5677719 | COL17A1 | c.3848C>A (p.Ala1283Asp) c.124C>A c.4094C>A (p.Ala1365Asp) | dbSNP ExAC gnomAD v2 |
| 10 | g.104034008C>A | CA378064990 | COL17A1 | c.3847G>T (p.Ala1283Ser) c.123G>T c.4093G>T (p.Ala1365Ser) | |
| 10 | g.104034008C= | CA1933417874 | COL17A1 | c.3847G= (p.Ala1283=) c.123G= c.4093G= (p.Ala1365=) | |
| 10 | g.104034008C>G | CA378064991 | COL17A1 | c.3847G>C (p.Ala1283Pro) c.123G>C c.4093G>C (p.Ala1365Pro) | dbSNP |
| 10 | g.104034008C>T | CA378064992 | COL17A1 | c.3847G>A (p.Ala1283Thr) c.123G>A c.4093G>A (p.Ala1365Thr) | |
| 10 | g.104034009T>A | CA471341589 | COL17A1 | c.3846A>T (p.Gly1282=) c.122A>T c.4092A>T (p.Gly1364=) | |
| 10 | g.104034009T>C | CA471341591 | COL17A1 | c.3846A>G (p.Gly1282=) c.122A>G c.4092A>G (p.Gly1364=) | |
| 10 | g.104034009T>G | CA471341593 | COL17A1 | c.3846A>C (p.Gly1282=) c.122A>C c.4092A>C (p.Gly1364=) | |
| 10 | g.104034010C>A | CA378064993 | COL17A1 | c.3845G>T (p.Gly1282Val) c.121G>T c.4091G>T (p.Gly1364Val) | |
| 10 | g.104034010C>G | CA378064994 | COL17A1 | c.3845G>C (p.Gly1282Ala) c.121G>C c.4091G>C (p.Gly1364Ala) | |
| 10 | g.104034010C>T | CA378064995 | COL17A1 | c.3845G>A (p.Gly1282Glu) c.121G>A c.4091G>A (p.Gly1364Glu) | |
| 10 | g.104034011C>A | CA378064996 | COL17A1 | c.3844G>T (p.Gly1282Ter) c.120G>T c.4090G>T (p.Gly1364Ter) | |
| 10 | g.104034011C= | CA1933417878 | COL17A1 | c.3844G= (p.Gly1282=) c.120G= c.4090G= (p.Gly1364=) | |
| 10 | g.104034011C>G | CA378064998 | COL17A1 | c.3844G>C (p.Gly1282Arg) c.120G>C c.4090G>C (p.Gly1364Arg) | |
| 10 | g.104034011C>T | CA378064997 | COL17A1 | c.3844G>A (p.Gly1282Arg) c.120G>A c.4090G>A (p.Gly1364Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034012C>A | CA378064999 | COL17A1 | c.3843G>T (p.Leu1281Phe) c.119G>T c.4089G>T (p.Leu1363Phe) | |
| 10 | g.104034012C= | CA1933417881 | COL17A1 | c.3843G= (p.Leu1281=) c.119G= c.4089G= (p.Leu1363=) | |
| 10 | g.104034012C>G | CA378065000 | COL17A1 | c.3843G>C (p.Leu1281Phe) c.119G>C c.4089G>C (p.Leu1363Phe) | dbSNP |
| 10 | g.104034012C>T | CA471341602 | COL17A1 | c.3843G>A (p.Leu1281=) c.119G>A c.4089G>A (p.Leu1363=) | COSMIC |
| 10 | g.104034013A= | CA1933417887 | COL17A1 | c.3842T= (p.Leu1281=) c.118T= c.4088T= (p.Leu1363=) | |
| 10 | g.104034013A>C | CA378065001 | COL17A1 | c.3842T>G (p.Leu1281Trp) c.118T>G c.4088T>G (p.Leu1363Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034013A>G | CA5677720 | COL17A1 | c.3842T>C (p.Leu1281Ser) c.118T>C c.4088T>C (p.Leu1363Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034013A>T | CA378065002 | COL17A1 | c.3842T>A (p.Leu1281Ter) c.118T>A c.4088T>A (p.Leu1363Ter) | |
| 10 | g.104034014del | CA2695212672 | COL17A1 | c.3842del (p.Leu1281TrpfsTer16) c.118del c.4088del (p.Leu1363TrpfsTer16) | |
| 10 | g.104034014A= | CA1933417893 | COL17A1 | c.3841T= (p.Leu1281=) c.117T= c.4087T= (p.Leu1363=) | |
| 10 | g.104034014A>C | CA378065003 | COL17A1 | c.3841T>G (p.Leu1281Val) c.117T>G c.4087T>G (p.Leu1363Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034014A>G | CA471341611 | COL17A1 | c.3841T>C (p.Leu1281=) c.117T>C c.4087T>C (p.Leu1363=) | dbSNP |
| 10 | g.104034014A>T | CA378065004 | COL17A1 | c.3841T>A (p.Leu1281Met) c.117T>A c.4087T>A (p.Leu1363Met) | |
| 10 | g.104034015T>A | CA471341616 | COL17A1 | c.3840A>T (p.Leu1280=) c.116A>T c.4086A>T (p.Leu1362=) | |
| 10 | g.104034015T>C | CA471341619 | COL17A1 | c.3840A>G (p.Leu1280=) c.116A>G c.4086A>G (p.Leu1362=) | |
| 10 | g.104034015T>G | CA471341621 | COL17A1 | c.3840A>C (p.Leu1280=) c.116A>C c.4086A>C (p.Leu1362=) | |
| 10 | g.104034016A>C | CA378065005 | COL17A1 | c.3839T>G (p.Leu1280Arg) c.115T>G c.4085T>G (p.Leu1362Arg) | gnomAD v4 |
| 10 | g.104034016A>G | CA378065006 | COL17A1 | c.3839T>C (p.Leu1280Pro) c.115T>C c.4085T>C (p.Leu1362Pro) | |
| 10 | g.104034016A>T | CA378065007 | COL17A1 | c.3839T>A (p.Leu1280Gln) c.115T>A c.4085T>A (p.Leu1362Gln) | |
| 10 | g.104034017G>A | CA471341630 | COL17A1 | c.3838C>T (p.Leu1280=) c.114C>T c.4084C>T (p.Leu1362=) | |
| 10 | g.104034017G>C | CA378065008 | COL17A1 | c.3838C>G (p.Leu1280Val) c.114C>G c.4084C>G (p.Leu1362Val) | |
| 10 | g.104034017G= | CA1933417897 | COL17A1 | c.3838C= (p.Leu1280=) c.114C= c.4084C= (p.Leu1362=) | |
| 10 | g.104034017G>T | CA378065009 | COL17A1 | c.3838C>A (p.Leu1280Ile) c.114C>A c.4084C>A (p.Leu1362Ile) | dbSNP |
| 10 | g.104034018T>A | CA471341632 | COL17A1 | c.3837A>T (p.Gly1279=) c.113A>T c.4083A>T (p.Gly1361=) | |
| 10 | g.104034018T>C | CA471341634 | COL17A1 | c.3837A>G (p.Gly1279=) c.113A>G c.4083A>G (p.Gly1361=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034018T>G | CA471341636 | COL17A1 | c.3837A>C (p.Gly1279=) c.113A>C c.4083A>C (p.Gly1361=) | |
| 10 | g.104034018T= | CA1933417900 | COL17A1 | c.3837A= (p.Gly1279=) c.113A= c.4083A= (p.Gly1361=) | |
| 10 | g.104034019C>A | CA378065010 | COL17A1 | c.3836G>T (p.Gly1279Val) c.112G>T c.4082G>T (p.Gly1361Val) | |
| 10 | g.104034019C= | CA1933417904 | COL17A1 | c.3836G= (p.Gly1279=) c.112G= c.4082G= (p.Gly1361=) | |
| 10 | g.104034019C>G | CA378065012 | COL17A1 | c.3836G>C (p.Gly1279Ala) c.112G>C c.4082G>C (p.Gly1361Ala) | |
| 10 | g.104034019C>T | CA378065011 | COL17A1 | c.3836G>A (p.Gly1279Glu) c.112G>A c.4082G>A (p.Gly1361Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034020C>A | CA378065013 | COL17A1 | c.3835G>T (p.Gly1279Ter) c.111G>T c.4081G>T (p.Gly1361Ter) | |
| 10 | g.104034020C= | CA1933417909 | COL17A1 | c.3835G= (p.Gly1279=) c.111G= c.4081G= (p.Gly1361=) | |
| 10 | g.104034020C>G | CA378065014 | COL17A1 | c.3835G>C (p.Gly1279Arg) c.111G>C c.4081G>C (p.Gly1361Arg) | |
| 10 | g.104034020C>T | CA5677721 | COL17A1 | c.3835G>A (p.Gly1279Arg) c.111G>A c.4081G>A (p.Gly1361Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034021G>A | CA5677722 | COL17A1 | c.3834C>T (p.Gly1278=) c.110C>T c.4080C>T (p.Gly1360=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034021G>C | CA471341648 | COL17A1 | c.3834C>G (p.Gly1278=) c.110C>G c.4080C>G (p.Gly1360=) | |
| 10 | g.104034021G= | CA1933417914 | COL17A1 | c.3834C= (p.Gly1278=) c.110C= c.4080C= (p.Gly1360=) | |
| 10 | g.104034021G>T | CA471341650 | COL17A1 | c.3834C>A (p.Gly1278=) c.110C>A c.4080C>A (p.Gly1360=) | |
| 10 | g.104034022C>A | CA378065017 | COL17A1 | c.3833G>T (p.Gly1278Val) c.109G>T c.4079G>T (p.Gly1360Val) | |
| 10 | g.104034022C= | CA1933417919 | COL17A1 | c.3833G= (p.Gly1278=) c.109G= c.4079G= (p.Gly1360=) | |
| 10 | g.104034022C>G | CA378065015 | COL17A1 | c.3833G>C (p.Gly1278Ala) c.109G>C c.4079G>C (p.Gly1360Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034022C>T | CA378065016 | COL17A1 | c.3833G>A (p.Gly1278Asp) c.109G>A c.4079G>A (p.Gly1360Asp) | |
| 10 | g.104034023C>A | CA378065018 | COL17A1 | c.3832G>T (p.Gly1278Cys) c.108G>T c.4078G>T (p.Gly1360Cys) | |
| 10 | g.104034023C= | CA1933417924 | COL17A1 | c.3832G= (p.Gly1278=) c.108G= c.4078G= (p.Gly1360=) | |
| 10 | g.104034023C>G | CA378065019 | COL17A1 | c.3832G>C (p.Gly1278Arg) c.108G>C c.4078G>C (p.Gly1360Arg) | |
| 10 | g.104034023C>T | CA378065020 | COL17A1 | c.3832G>A (p.Gly1278Ser) c.108G>A c.4078G>A (p.Gly1360Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034024A>C | CA378065021 | COL17A1 | c.3831T>G (p.Asn1277Lys) c.107T>G c.4077T>G (p.Asn1359Lys) | |
| 10 | g.104034024A>G | CA471341659 | COL17A1 | c.3831T>C (p.Asn1277=) c.107T>C c.4077T>C (p.Asn1359=) | |
| 10 | g.104034024A>T | CA378065022 | COL17A1 | c.3831T>A (p.Asn1277Lys) c.107T>A c.4077T>A (p.Asn1359Lys) | |
| 10 | g.104034025T>A | CA378065023 | COL17A1 | c.3830A>T (p.Asn1277Ile) c.106A>T c.4076A>T (p.Asn1359Ile) | |
| 10 | g.104034025T>C | CA378065024 | COL17A1 | c.3830A>G (p.Asn1277Ser) c.106A>G c.4076A>G (p.Asn1359Ser) | |
| 10 | g.104034025T>G | CA378065025 | COL17A1 | c.3830A>C (p.Asn1277Thr) c.106A>C c.4076A>C (p.Asn1359Thr) | |
| 10 | g.104034026T>A | CA378065028 | COL17A1 | c.3829A>T (p.Asn1277Tyr) c.105A>T c.4075A>T (p.Asn1359Tyr) | |
| 10 | g.104034026T>C | CA378065027 | COL17A1 | c.3829A>G (p.Asn1277Asp) c.105A>G c.4075A>G (p.Asn1359Asp) | |
| 10 | g.104034026T>G | CA378065026 | COL17A1 | c.3829A>C (p.Asn1277His) c.105A>C c.4075A>C (p.Asn1359His) | |
| 10 | g.104034027G>A | CA471341667 | COL17A1 | c.3828C>T (p.Gly1276=) c.104C>T c.4074C>T (p.Gly1358=) | |
| 10 | g.104034027G>C | CA471341668 | COL17A1 | c.3828C>G (p.Gly1276=) c.104C>G c.4074C>G (p.Gly1358=) | |
| 10 | g.104034027G>T | CA471341670 | COL17A1 | c.3828C>A (p.Gly1276=) c.104C>A c.4074C>A (p.Gly1358=) | |
| 10 | g.104034028C>A | CA378065029 | COL17A1 | c.3827G>T (p.Gly1276Val) c.103G>T c.4073G>T (p.Gly1358Val) | |
| 10 | g.104034028C>G | CA378065030 | COL17A1 | c.3827G>C (p.Gly1276Ala) c.103G>C c.4073G>C (p.Gly1358Ala) | |
| 10 | g.104034028C>T | CA378065031 | COL17A1 | c.3827G>A (p.Gly1276Asp) c.103G>A c.4073G>A (p.Gly1358Asp) | |
| 10 | g.104034029C>A | CA378065032 | COL17A1 | c.3826G>T (p.Gly1276Cys) c.102G>T c.4072G>T (p.Gly1358Cys) | |
| 10 | g.104034029C= | CA1933417926 | COL17A1 | c.3826G= (p.Gly1276=) c.102G= c.4072G= (p.Gly1358=) | |
| 10 | g.104034029C>G | CA378065033 | COL17A1 | c.3826G>C (p.Gly1276Arg) c.102G>C c.4072G>C (p.Gly1358Arg) | |
| 10 | g.104034029C>T | CA378065034 | COL17A1 | c.3826G>A (p.Gly1276Ser) c.102G>A c.4072G>A (p.Gly1358Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034030A>C | CA471341678 | COL17A1 | c.3825T>G (p.Ala1275=) c.101T>G c.4071T>G (p.Ala1357=) | |
| 10 | g.104034030A>G | CA471341680 | COL17A1 | c.3825T>C (p.Ala1275=) c.101T>C c.4071T>C (p.Ala1357=) | gnomAD v4 |
| 10 | g.104034030A>T | CA471341682 | COL17A1 | c.3825T>A (p.Ala1275=) c.101T>A c.4071T>A (p.Ala1357=) | |
| 10 | g.104034031G>A | CA378065035 | COL17A1 | c.3824C>T (p.Ala1275Val) c.100C>T c.4070C>T (p.Ala1357Val) | |
| 10 | g.104034031G>C | CA378065036 | COL17A1 | c.3824C>G (p.Ala1275Gly) c.100C>G c.4070C>G (p.Ala1357Gly) | |
| 10 | g.104034031G>T | CA378065037 | COL17A1 | c.3824C>A (p.Ala1275Asp) c.100C>A c.4070C>A (p.Ala1357Asp) | |
| 10 | g.104034032C>A | CA378065038 | COL17A1 | c.3823G>T (p.Ala1275Ser) c.99G>T c.4069G>T (p.Ala1357Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034032C= | CA1933417928 | COL17A1 | c.3823G= (p.Ala1275=) c.99G= c.4069G= (p.Ala1357=) | |
| 10 | g.104034032C>G | CA378065039 | COL17A1 | c.3823G>C (p.Ala1275Pro) c.99G>C c.4069G>C (p.Ala1357Pro) | |
| 10 | g.104034032C>T | CA5677723 | COL17A1 | c.3823G>A (p.Ala1275Thr) c.99G>A c.4069G>A (p.Ala1357Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034033A= | CA1933417932 | COL17A1 | c.3822T= (p.Tyr1274=) c.98T= c.4068T= (p.Tyr1356=) | |
| 10 | g.104034033A>C | CA378065041 | COL17A1 | c.3822T>G (p.Tyr1274Ter) c.98T>G c.4068T>G (p.Tyr1356Ter) | dbSNP gnomAD v4 |
| 10 | g.104034033A>G | CA5677724 | COL17A1 | c.3822T>C (p.Tyr1274=) c.98T>C c.4068T>C (p.Tyr1356=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034033A>T | CA378065040 | COL17A1 | c.3822T>A (p.Tyr1274Ter) c.98T>A c.4068T>A (p.Tyr1356Ter) | |
| 10 | g.104034034T>A | CA378065042 | COL17A1 | c.3821A>T (p.Tyr1274Phe) c.97A>T c.4067A>T (p.Tyr1356Phe) | dbSNP |
| 10 | g.104034034T>C | CA378065043 | COL17A1 | c.3821A>G (p.Tyr1274Cys) c.97A>G c.4067A>G (p.Tyr1356Cys) | ClinVar dbSNP |
| 10 | g.104034034T>G | CA378065044 | COL17A1 | c.3821A>C (p.Tyr1274Ser) c.97A>C c.4067A>C (p.Tyr1356Ser) | |
| 10 | g.104034034T= | CA1933417933 | COL17A1 | c.3821A= (p.Tyr1274=) c.97A= c.4067A= (p.Tyr1356=) | |
| 10 | g.104034035A= | CA1933417935 | COL17A1 | c.3820T= (p.Tyr1274=) c.96T= c.4066T= (p.Tyr1356=) | |
| 10 | g.104034035A>C | CA378065045 | COL17A1 | c.3820T>G (p.Tyr1274Asp) c.96T>G c.4066T>G (p.Tyr1356Asp) | |
| 10 | g.104034035A>G | CA378065046 | COL17A1 | c.3820T>C (p.Tyr1274His) c.96T>C c.4066T>C (p.Tyr1356His) | dbSNP |
| 10 | g.104034035A>T | CA378065047 | COL17A1 | c.3820T>A (p.Tyr1274Asn) c.96T>A c.4066T>A (p.Tyr1356Asn) | |
| 10 | g.104034036C>A | CA378065048 | COL17A1 | c.3819G>T (p.Met1273Ile) c.95G>T c.4065G>T (p.Met1355Ile) | |
| 10 | g.104034036C= | CA1933417939 | COL17A1 | c.3819G= (p.Met1273=) c.95G= c.4065G= (p.Met1355=) | |
| 10 | g.104034036C>G | CA378065049 | COL17A1 | c.3819G>C (p.Met1273Ile) c.95G>C c.4065G>C (p.Met1355Ile) | dbSNP |
| 10 | g.104034036C>T | CA378065050 | COL17A1 | c.3819G>A (p.Met1273Ile) c.95G>A c.4065G>A (p.Met1355Ile) | |
| 10 | g.104034037A= | CA1933417942 | COL17A1 | c.3818T= (p.Met1273=) c.94T= c.4064T= (p.Met1355=) | |
| 10 | g.104034037A>C | CA5677725 | COL17A1 | c.3818T>G (p.Met1273Arg) c.94T>G c.4064T>G (p.Met1355Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034037A>G | CA378065051 | COL17A1 | c.3818T>C (p.Met1273Thr) c.94T>C c.4064T>C (p.Met1355Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034037A>T | CA378065052 | COL17A1 | c.3818T>A (p.Met1273Lys) c.94T>A c.4064T>A (p.Met1355Lys) | |
| 10 | g.104034038T>A | CA378065055 | COL17A1 | c.3817A>T (p.Met1273Leu) c.93A>T c.4063A>T (p.Met1355Leu) | |
| 10 | g.104034038T>C | CA378065053 | COL17A1 | c.3817A>G (p.Met1273Val) c.93A>G c.4063A>G (p.Met1355Val) | |
| 10 | g.104034038T>G | CA378065054 | COL17A1 | c.3817A>C (p.Met1273Leu) c.93A>C c.4063A>C (p.Met1355Leu) | |
| 10 | g.104034039G>A | CA471341711 | COL17A1 | c.3816C>T (p.Gly1272=) c.92C>T c.4062C>T (p.Gly1354=) | dbSNP |
| 10 | g.104034039G>C | CA471341714 | COL17A1 | c.3816C>G (p.Gly1272=) c.92C>G c.4062C>G (p.Gly1354=) | |
| 10 | g.104034039G= | CA1933417947 | COL17A1 | c.3816C= (p.Gly1272=) c.92C= c.4062C= (p.Gly1354=) | |
| 10 | g.104034039G>T | CA471341712 | COL17A1 | c.3816C>A (p.Gly1272=) c.92C>A c.4062C>A (p.Gly1354=) | |
| 10 | g.104034040C>A | CA378065056 | COL17A1 | c.3815G>T (p.Gly1272Val) c.91G>T c.4061G>T (p.Gly1354Val) | |
| 10 | g.104034040C>G | CA378065057 | COL17A1 | c.3815G>C (p.Gly1272Ala) c.91G>C c.4061G>C (p.Gly1354Ala) | |
| 10 | g.104034040C>T | CA378065058 | COL17A1 | c.3815G>A (p.Gly1272Asp) c.91G>A c.4061G>A (p.Gly1354Asp) | |
| 10 | g.104034041del | CA2610796359 | COL17A1 | c.3815del (p.Gly1272AlafsTer25) c.91del c.4061del (p.Gly1354AlafsTer25) | gnomAD v4 |
| 10 | g.104034041C>A | CA378065059 | COL17A1 | c.3814G>T (p.Gly1272Cys) c.90G>T c.4060G>T (p.Gly1354Cys) | gnomAD v4 |
| 10 | g.104034041C= | CA1933417950 | COL17A1 | c.3814G= (p.Gly1272=) c.90G= c.4060G= (p.Gly1354=) | |
| 10 | g.104034041C>G | CA378065060 | COL17A1 | c.3814G>C (p.Gly1272Arg) c.90G>C c.4060G>C (p.Gly1354Arg) | gnomAD v4 |
| 10 | g.104034041C>T | CA5677726 | COL17A1 | c.3814G>A (p.Gly1272Ser) c.90G>A c.4060G>A (p.Gly1354Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034042G>A | CA5677727 | COL17A1 | c.3813C>T (p.Gly1271=) c.89C>T c.4059C>T (p.Gly1353=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034042G>C | CA471341724 | COL17A1 | c.3813C>G (p.Gly1271=) c.89C>G c.4059C>G (p.Gly1353=) | |
| 10 | g.104034042G= | CA1933417956 | COL17A1 | c.3813C= (p.Gly1271=) c.89C= c.4059C= (p.Gly1353=) | |
| 10 | g.104034042G>T | CA471341726 | COL17A1 | c.3813C>A (p.Gly1271=) c.89C>A c.4059C>A (p.Gly1353=) | |
| 10 | g.104034043C>A | CA378065061 | COL17A1 | c.3812G>T (p.Gly1271Val) c.88G>T c.4058G>T (p.Gly1353Val) | |
| 10 | g.104034043C>G | CA378065062 | COL17A1 | c.3812G>C (p.Gly1271Ala) c.88G>C c.4058G>C (p.Gly1353Ala) | |
| 10 | g.104034043C>T | CA378065063 | COL17A1 | c.3812G>A (p.Gly1271Asp) c.88G>A c.4058G>A (p.Gly1353Asp) | gnomAD v4 |
| 10 | g.104034044C>A | CA378065064 | COL17A1 | c.3811G>T (p.Gly1271Cys) c.87G>T c.4057G>T (p.Gly1353Cys) | dbSNP gnomAD v2 |
| 10 | g.104034044C= | CA1933417960 | COL17A1 | c.3811G= (p.Gly1271=) c.87G= c.4057G= (p.Gly1353=) | |
| 10 | g.104034044C>G | CA378065065 | COL17A1 | c.3811G>C (p.Gly1271Arg) c.87G>C c.4057G>C (p.Gly1353Arg) | |
| 10 | g.104034044C>T | CA378065066 | COL17A1 | c.3811G>A (p.Gly1271Ser) c.87G>A c.4057G>A (p.Gly1353Ser) | gnomAD v4 |
| 10 | g.104034045T>A | CA378065068 | COL17A1 | c.3810A>T (p.Glu1270Asp) c.86A>T c.4056A>T (p.Glu1352Asp) | |
| 10 | g.104034045T>C | CA471341738 | COL17A1 | c.3810A>G (p.Glu1270=) c.86A>G c.4056A>G (p.Glu1352=) | |
| 10 | g.104034045T>G | CA378065067 | COL17A1 | c.3810A>C (p.Glu1270Asp) c.86A>C c.4056A>C (p.Glu1352Asp) | gnomAD v4 |
| 10 | g.104034045_104034048del | CA2610796360 | COL17A1 | c.3807_3810del (p.Glu1270AlafsTer26) c.83_86del c.4053_4056del (p.Glu1352AlafsTer26) | gnomAD v4 |
| 10 | g.104034046T>A | CA378065069 | COL17A1 | c.3809A>T (p.Glu1270Val) c.85A>T c.4055A>T (p.Glu1352Val) | dbSNP gnomAD v4 |
| 10 | g.104034046T>C | CA378065071 | COL17A1 | c.3809A>G (p.Glu1270Gly) c.85A>G c.4055A>G (p.Glu1352Gly) | |
| 10 | g.104034046T>G | CA378065070 | COL17A1 | c.3809A>C (p.Glu1270Ala) c.85A>C c.4055A>C (p.Glu1352Ala) | |
| 10 | g.104034046T= | CA1933417964 | COL17A1 | c.3809A= (p.Glu1270=) c.85A= c.4055A= (p.Glu1352=) | |
| 10 | g.104034047C>A | CA378065072 | COL17A1 | c.3808G>T (p.Glu1270Ter) c.84G>T c.4054G>T (p.Glu1352Ter) | |
| 10 | g.104034047C= | CA1933417970 | COL17A1 | c.3808G= (p.Glu1270=) c.84G= c.4054G= (p.Glu1352=) | |
| 10 | g.104034047C>G | CA378065073 | COL17A1 | c.3808G>C (p.Glu1270Gln) c.84G>C c.4054G>C (p.Glu1352Gln) | |
| 10 | g.104034047C>T | CA5677728 | COL17A1 | c.3808G>A (p.Glu1270Lys) c.84G>A c.4054G>A (p.Glu1352Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.104034054_104034056del | CA912966479 | COL17A1 | c.3806_3808del (p.Ala1269del) c.82_84del c.4052_4054del (p.Ala1351del) | gnomAD v4 |
| 10 | g.104034048T>A | CA471341749 | COL17A1 | c.3807A>T (p.Ala1269=) c.83A>T c.4053A>T (p.Ala1351=) | ClinVar dbSNP |
| 10 | g.104034048T>C | CA471341751 | COL17A1 | c.3807A>G (p.Ala1269=) c.83A>G c.4053A>G (p.Ala1351=) | |
| 10 | g.104034048T>G | CA471341752 | COL17A1 | c.3807A>C (p.Ala1269=) c.83A>C c.4053A>C (p.Ala1351=) | |
| 10 | g.104034048T= | CA1933417972 | COL17A1 | c.3807A= (p.Ala1269=) c.83A= c.4053A= (p.Ala1351=) | |
| 10 | g.104034049G>A | CA378065074 | COL17A1 | c.3806C>T (p.Ala1269Val) c.82C>T c.4052C>T (p.Ala1351Val) | |
| 10 | g.104034049G>C | CA378065075 | COL17A1 | c.3806C>G (p.Ala1269Gly) c.82C>G c.4052C>G (p.Ala1351Gly) | |
| 10 | g.104034049G>T | CA378065076 | COL17A1 | c.3806C>A (p.Ala1269Glu) c.82C>A c.4052C>A (p.Ala1351Glu) | |
| 10 | g.104034050C>A | CA378065077 | COL17A1 | c.3805G>T (p.Ala1269Ser) c.81G>T c.4051G>T (p.Ala1351Ser) | |
| 10 | g.104034050C= | CA1933417976 | COL17A1 | c.3805G= (p.Ala1269=) c.81G= c.4051G= (p.Ala1351=) | |
| 10 | g.104034050C>G | CA378065078 | COL17A1 | c.3805G>C (p.Ala1269Pro) c.81G>C c.4051G>C (p.Ala1351Pro) | gnomAD v4 |
| 10 | g.104034050C>T | CA378065079 | COL17A1 | c.3805G>A (p.Ala1269Thr) c.81G>A c.4051G>A (p.Ala1351Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034050_104034051delinsCT | CA1933417975 | COL17A1 | c.3804_3805delinsAG (p.Ala1268=) c.80_81delinsAG c.4050_4051delinsAG (p.Ala1350=) | |
| 10 | g.104034051del | CA10603215 | COL17A1 | c.3804del (p.Ala1269GlnfsTer28) c.80del c.4050del (p.Ala1351GlnfsTer28) | ClinVar dbSNP |
| 10 | g.104034051T>A | CA471341759 | COL17A1 | c.3804A>T (p.Ala1268=) c.80A>T c.4050A>T (p.Ala1350=) | |
| 10 | g.104034051T>C | CA471341761 | COL17A1 | c.3804A>G (p.Ala1268=) c.80A>G c.4050A>G (p.Ala1350=) | |
| 10 | g.104034051T>G | CA471341762 | COL17A1 | c.3804A>C (p.Ala1268=) c.80A>C c.4050A>C (p.Ala1350=) | |
| 10 | g.104034051_104034052delinsTG | CA1933417984 | COL17A1 | c.3803_3804delinsCA (p.Ala1268=) c.79_80delinsCA c.4049_4050delinsCA (p.Ala1350=) | |
| 10 | g.104034052del | CA659193750 | COL17A1 | c.3803del (p.Ala1268GlufsTer29) c.79del c.4049del (p.Ala1350GlufsTer29) | dbSNP |
| 10 | g.104034052G>A | CA5677729 | COL17A1 | c.3803C>T (p.Ala1268Val) c.79C>T c.4049C>T (p.Ala1350Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034052G>C | CA378065080 | COL17A1 | c.3803C>G (p.Ala1268Gly) c.79C>G c.4049C>G (p.Ala1350Gly) | |
| 10 | g.104034052G= | CA1933417991 | COL17A1 | c.3803C= (p.Ala1268=) c.79C= c.4049C= (p.Ala1350=) | |
| 10 | g.104034052G>T | CA378065081 | COL17A1 | c.3803C>A (p.Ala1268Glu) c.79C>A c.4049C>A (p.Ala1350Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034053C>A | CA378065084 | COL17A1 | c.3802G>T (p.Ala1268Ser) c.78G>T c.4048G>T (p.Ala1350Ser) | |
| 10 | g.104034053C>G | CA378065082 | COL17A1 | c.3802G>C (p.Ala1268Pro) c.78G>C c.4048G>C (p.Ala1350Pro) | |
| 10 | g.104034053C>T | CA378065083 | COL17A1 | c.3802G>A (p.Ala1268Thr) c.78G>A c.4048G>A (p.Ala1350Thr) | |
| 10 | g.104034054T>A | CA471341771 | COL17A1 | c.3801A>T (p.Ala1267=) c.77A>T c.4047A>T (p.Ala1349=) | |
| 10 | g.104034054T>C | CA471341773 | COL17A1 | c.3801A>G (p.Ala1267=) c.77A>G c.4047A>G (p.Ala1349=) | |
| 10 | g.104034054T>G | CA471341770 | COL17A1 | c.3801A>C (p.Ala1267=) c.77A>C c.4047A>C (p.Ala1349=) | |
| 10 | g.104034055G>A | CA378065085 | COL17A1 | c.3800C>T (p.Ala1267Val) c.76C>T c.4046C>T (p.Ala1349Val) | |
| 10 | g.104034055G>C | CA378065086 | COL17A1 | c.3800C>G (p.Ala1267Gly) c.76C>G c.4046C>G (p.Ala1349Gly) | |
| 10 | g.104034055G>T | CA378065087 | COL17A1 | c.3800C>A (p.Ala1267Glu) c.76C>A c.4046C>A (p.Ala1349Glu) | |
| 10 | g.104034056C>A | CA378065088 | COL17A1 | c.3799G>T (p.Ala1267Ser) c.75G>T c.4045G>T (p.Ala1349Ser) | |
| 10 | g.104034056C= | CA1933417993 | COL17A1 | c.3799G= (p.Ala1267=) c.75G= c.4045G= (p.Ala1349=) | |
| 10 | g.104034056C>G | CA378065089 | COL17A1 | c.3799G>C (p.Ala1267Pro) c.75G>C c.4045G>C (p.Ala1349Pro) | |
| 10 | g.104034056C>T | CA378065090 | COL17A1 | c.3799G>A (p.Ala1267Thr) c.75G>A c.4045G>A (p.Ala1349Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034059dup | CA2580081223 | COL17A1 | c.3799dup (p.Ala1267GlyfsTer18) c.75dup c.4045dup (p.Ala1349GlyfsTer18) | ClinVar |
| 10 | g.104034057C>A | CA471341780 | COL17A1 | c.3798G>T (p.Gly1266=) c.74G>T c.4044G>T (p.Gly1348=) | gnomAD v4 |
| 10 | g.104034057C= | CA1933417996 | COL17A1 | c.3798G= (p.Gly1266=) c.74G= c.4044G= (p.Gly1348=) | |
| 10 | g.104034057C>G | CA471341782 | COL17A1 | c.3798G>C (p.Gly1266=) c.74G>C c.4044G>C (p.Gly1348=) | |
| 10 | g.104034057C>T | CA471341784 | COL17A1 | c.3798G>A (p.Gly1266=) c.74G>A c.4044G>A (p.Gly1348=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034058C>A | CA378065091 | COL17A1 | c.3797G>T (p.Gly1266Val) c.73G>T c.4043G>T (p.Gly1348Val) | |
| 10 | g.104034058C= | CA1933418001 | COL17A1 | c.3797G= (p.Gly1266=) c.73G= c.4043G= (p.Gly1348=) | |
| 10 | g.104034058C>G | CA5677730 | COL17A1 | c.3797G>C (p.Gly1266Ala) c.73G>C c.4043G>C (p.Gly1348Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034058C>T | CA378065092 | COL17A1 | c.3797G>A (p.Gly1266Glu) c.73G>A c.4043G>A (p.Gly1348Glu) | dbSNP gnomAD v4 COSMIC |
| 10 | g.104034059C>A | CA378065093 | COL17A1 | c.3796G>T (p.Gly1266Trp) c.72G>T c.4042G>T (p.Gly1348Trp) | |
| 10 | g.104034059C>G | CA378065094 | COL17A1 | c.3796G>C (p.Gly1266Arg) c.72G>C c.4042G>C (p.Gly1348Arg) | |
| 10 | g.104034059C>T | CA378065095 | COL17A1 | c.3796G>A (p.Gly1266Arg) c.72G>A c.4042G>A (p.Gly1348Arg) | gnomAD v4 |
| 10 | g.104034060A= | CA1933418004 | COL17A1 | c.3795T= (p.Tyr1265=) c.71T= c.4041T= (p.Tyr1347=) | |
| 10 | g.104034060A>C | CA378065096 | COL17A1 | c.3795T>G (p.Tyr1265Ter) c.71T>G c.4041T>G (p.Tyr1347Ter) | ClinVar dbSNP |
| 10 | g.104034060A>G | CA212449922 | COL17A1 | c.3795T>C (p.Tyr1265=) c.71T>C c.4041T>C (p.Tyr1347=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034060A>T | CA378065097 | COL17A1 | c.3795T>A (p.Tyr1265Ter) c.71T>A c.4041T>A (p.Tyr1347Ter) | |
| 10 | g.104034061T>A | CA212449924 | COL17A1 | c.3794A>T (p.Tyr1265Phe) c.70A>T c.4040A>T (p.Tyr1347Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034061T>C | CA378065098 | COL17A1 | c.3794A>G (p.Tyr1265Cys) c.70A>G c.4040A>G (p.Tyr1347Cys) | gnomAD v4 |
| 10 | g.104034061T>G | CA378065099 | COL17A1 | c.3794A>C (p.Tyr1265Ser) c.70A>C c.4040A>C (p.Tyr1347Ser) | |
| 10 | g.104034061T= | CA1933418009 | COL17A1 | c.3794A= (p.Tyr1265=) c.70A= c.4040A= (p.Tyr1347=) | |
| 10 | g.104034062A>C | CA378065100 | COL17A1 | c.3793T>G (p.Tyr1265Asp) c.69T>G c.4039T>G (p.Tyr1347Asp) | |
| 10 | g.104034062A>G | CA378065101 | COL17A1 | c.3793T>C (p.Tyr1265His) c.69T>C c.4039T>C (p.Tyr1347His) | |
| 10 | g.104034062A>T | CA378065102 | COL17A1 | c.3793T>A (p.Tyr1265Asn) c.69T>A c.4039T>A (p.Tyr1347Asn) | |
| 10 | g.104034063G>A | CA471341800 | COL17A1 | c.3792C>T (p.Gly1264=) c.68C>T c.4038C>T (p.Gly1346=) | |
| 10 | g.104034063G>C | CA471341802 | COL17A1 | c.3792C>G (p.Gly1264=) c.68C>G c.4038C>G (p.Gly1346=) | |
| 10 | g.104034063G>T | CA471341803 | COL17A1 | c.3792C>A (p.Gly1264=) c.68C>A c.4038C>A (p.Gly1346=) | |
| 10 | g.104034064C>A | CA378065103 | COL17A1 | c.3791G>T (p.Gly1264Val) c.67G>T c.4037G>T (p.Gly1346Val) | |
| 10 | g.104034064C= | CA1933418012 | COL17A1 | c.3791G= (p.Gly1264=) c.67G= c.4037G= (p.Gly1346=) | |
| 10 | g.104034064C>G | CA378065104 | COL17A1 | c.3791G>C (p.Gly1264Ala) c.67G>C c.4037G>C (p.Gly1346Ala) | gnomAD v4 |
| 10 | g.104034064C>T | CA378065105 | COL17A1 | c.3791G>A (p.Gly1264Asp) c.67G>A c.4037G>A (p.Gly1346Asp) | dbSNP |
| 10 | g.104034065C>A | CA378065106 | COL17A1 | c.3790G>T (p.Gly1264Cys) c.66G>T c.4036G>T (p.Gly1346Cys) | |
| 10 | g.104034065C= | CA1933418015 | COL17A1 | c.3790G= (p.Gly1264=) c.66G= c.4036G= (p.Gly1346=) | |
| 10 | g.104034065C>G | CA378065107 | COL17A1 | c.3790G>C (p.Gly1264Arg) c.66G>C c.4036G>C (p.Gly1346Arg) | |
| 10 | g.104034065C>T | CA5677731 | COL17A1 | c.3790G>A (p.Gly1264Ser) c.66G>A c.4036G>A (p.Gly1346Ser) | dbSNP ExAC |
| 10 | g.104034066T>A | CA471341812 | COL17A1 | c.3789A>T (p.Gly1263=) c.65A>T c.4035A>T (p.Gly1345=) | |
| 10 | g.104034066T>C | CA471341813 | COL17A1 | c.3789A>G (p.Gly1263=) c.65A>G c.4035A>G (p.Gly1345=) | |
| 10 | g.104034066T>G | CA471341815 | COL17A1 | c.3789A>C (p.Gly1263=) c.65A>C c.4035A>C (p.Gly1345=) | |
| 10 | g.104034067C>A | CA378065109 | COL17A1 | c.3788G>T (p.Gly1263Val) c.64G>T c.4034G>T (p.Gly1345Val) | dbSNP |
| 10 | g.104034067C= | CA1933418018 | COL17A1 | c.3788G= (p.Gly1263=) c.64G= c.4034G= (p.Gly1345=) | |
| 10 | g.104034067C>G | CA378065110 | COL17A1 | c.3788G>C (p.Gly1263Ala) c.64G>C c.4034G>C (p.Gly1345Ala) | |
| 10 | g.104034067C>T | CA378065108 | COL17A1 | c.3788G>A (p.Gly1263Glu) c.64G>A c.4034G>A (p.Gly1345Glu) | |
| 10 | g.104034068C>A | CA378065111 | COL17A1 | c.3787G>T (p.Gly1263Ter) c.63G>T c.4033G>T (p.Gly1345Ter) | |
| 10 | g.104034068C= | CA1933418023 | COL17A1 | c.3787G= (p.Gly1263=) c.63G= c.4033G= (p.Gly1345=) | |
| 10 | g.104034068C>G | CA378065112 | COL17A1 | c.3787G>C (p.Gly1263Arg) c.63G>C c.4033G>C (p.Gly1345Arg) | |
| 10 | g.104034068C>T | CA5677732 | COL17A1 | c.3787G>A (p.Gly1263Arg) c.63G>A c.4033G>A (p.Gly1345Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034069G>A | CA5677733 | COL17A1 | c.3786C>T (p.Gly1262=) c.62C>T c.4032C>T (p.Gly1344=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034069G>C | CA471341825 | COL17A1 | c.3786C>G (p.Gly1262=) c.62C>G c.4032C>G (p.Gly1344=) | |
| 10 | g.104034069G= | CA1933418030 | COL17A1 | c.3786C= (p.Gly1262=) c.62C= c.4032C= (p.Gly1344=) | |
| 10 | g.104034069G>T | CA471341826 | COL17A1 | c.3786C>A (p.Gly1262=) c.62C>A c.4032C>A (p.Gly1344=) | dbSNP gnomAD v2 |
| 10 | g.104034070C>A | CA378065115 | COL17A1 | c.3785G>T (p.Gly1262Val) c.61G>T c.4031G>T (p.Gly1344Val) | |
| 10 | g.104034070C>G | CA378065114 | COL17A1 | c.3785G>C (p.Gly1262Ala) c.61G>C c.4031G>C (p.Gly1344Ala) | |
| 10 | g.104034070C>T | CA378065113 | COL17A1 | c.3785G>A (p.Gly1262Asp) c.61G>A c.4031G>A (p.Gly1344Asp) | |
| 10 | g.104034071C>A | CA378065116 | COL17A1 | c.3784G>T (p.Gly1262Cys) c.60G>T c.4030G>T (p.Gly1344Cys) | |
| 10 | g.104034071C= | CA1933418034 | COL17A1 | c.3784G= (p.Gly1262=) c.60G= c.4030G= (p.Gly1344=) | |
| 10 | g.104034071C>G | CA378065117 | COL17A1 | c.3784G>C (p.Gly1262Arg) c.60G>C c.4030G>C (p.Gly1344Arg) | |
| 10 | g.104034071C>T | CA378065118 | COL17A1 | c.3784G>A (p.Gly1262Ser) c.60G>A c.4030G>A (p.Gly1344Ser) | dbSNP gnomAD v4 |
| 10 | g.104034072T>A | CA471502733 | COL17A1 | c.3783A>T (p.Pro1261=) c.59A>T c.4029A>T (p.Pro1343=) | |
| 10 | g.104034072T>C | CA471502735 | COL17A1 | c.3783A>G (p.Pro1261=) c.59A>G c.4029A>G (p.Pro1343=) | |
| 10 | g.104034072T>G | CA471502737 | COL17A1 | c.3783A>C (p.Pro1261=) c.59A>C c.4029A>C (p.Pro1343=) | |
| 10 | g.104034073G>A | CA5677734 | COL17A1 | c.3782C>T (p.Pro1261Leu) c.58C>T c.4028C>T (p.Pro1343Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034073G>C | CA378065119 | COL17A1 | c.3782C>G (p.Pro1261Arg) c.58C>G c.4028C>G (p.Pro1343Arg) | |
| 10 | g.104034073G= | CA1933418039 | COL17A1 | c.3782C= (p.Pro1261=) c.58C= c.4028C= (p.Pro1343=) | |
| 10 | g.104034073G>T | CA378065121 | COL17A1 | c.3782C>A (p.Pro1261Gln) c.58C>A c.4028C>A (p.Pro1343Gln) | |
| 10 | g.104034074G>A | CA5677735 | COL17A1 | c.3781C>T (p.Pro1261Ser) c.57C>T c.4027C>T (p.Pro1343Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034074G>C | CA378065124 | COL17A1 | c.3781C>G (p.Pro1261Ala) c.57C>G c.4027C>G (p.Pro1343Ala) | |
| 10 | g.104034074G= | CA1933418042 | COL17A1 | c.3781C= (p.Pro1261=) c.57C= c.4027C= (p.Pro1343=) | |
| 10 | g.104034074G>T | CA378065123 | COL17A1 | c.3781C>A (p.Pro1261Thr) c.57C>A c.4027C>A (p.Pro1343Thr) | |
| 10 | g.104034075G>A | CA471502740 | COL17A1 | c.3780C>T (p.Gly1260=) c.56C>T c.4026C>T (p.Gly1342=) | |
| 10 | g.104034075G>C | CA471502741 | COL17A1 | c.3780C>G (p.Gly1260=) c.56C>G c.4026C>G (p.Gly1342=) | gnomAD v4 |
| 10 | g.104034075G>T | CA471502738 | COL17A1 | c.3780C>A (p.Gly1260=) c.56C>A c.4026C>A (p.Gly1342=) | |
| 10 | g.104034076C>A | CA378065126 | COL17A1 | c.3779G>T (p.Gly1260Val) c.55G>T c.4025G>T (p.Gly1342Val) | |
| 10 | g.104034076C>G | CA378065128 | COL17A1 | c.3779G>C (p.Gly1260Ala) c.55G>C c.4025G>C (p.Gly1342Ala) | |
| 10 | g.104034076C>T | CA378065127 | COL17A1 | c.3779G>A (p.Gly1260Asp) c.55G>A c.4025G>A (p.Gly1342Asp) | |
| 10 | g.104034077C>A | CA378065130 | COL17A1 | c.3778G>T (p.Gly1260Cys) c.54G>T c.4024G>T (p.Gly1342Cys) | gnomAD v4 |
| 10 | g.104034077C= | CA1933418045 | COL17A1 | c.3778G= (p.Gly1260=) c.54G= c.4024G= (p.Gly1342=) | |
| 10 | g.104034077C>G | CA378065132 | COL17A1 | c.3778G>C (p.Gly1260Arg) c.54G>C c.4024G>C (p.Gly1342Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034077C>T | CA5677736 | COL17A1 | c.3778G>A (p.Gly1260Ser) c.54G>A c.4024G>A (p.Gly1342Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034078G>A | CA471502745 | COL17A1 | c.3777C>T (p.Ile1259=) c.53C>T c.4023C>T (p.Ile1341=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034078G>C | CA378065134 | COL17A1 | c.3777C>G (p.Ile1259Met) c.53C>G c.4023C>G (p.Ile1341Met) | |
| 10 | g.104034078G= | CA1933418048 | COL17A1 | c.3777C= (p.Ile1259=) c.53C= c.4023C= (p.Ile1341=) | |
| 10 | g.104034078G>T | CA471502744 | COL17A1 | c.3777C>A (p.Ile1259=) c.53C>A c.4023C>A (p.Ile1341=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034078_104034079insCGTAGGCTTTCAACCAATCCGGCACGGCGCAGCTTGCTGAATAATTGTTCGAGGTAGGACAGCGATATGCTTTGTCGTTCGCTG | CA2789320503 | COL17A1 | c.3777_3778insAGCGAACGACAAAGCATATCGCTGTCCTACCTCGAACAATTATTCAGCAAGCTGCGCCGTGCCGGATTGGTTGAAAGCCTACGC (p.Ile1259_Gly1260insSerGluArgGlnSerIleSerLeuSerTyrLeuGluGlnLeuPheSerLysLeuArgArgAlaGlyLeuValGluSerLeuArg) c.53_54insAGCGAACGACAAAGCATATCGCTGTCCTACCTCGAACAATTATTCAGCAAGCTGCGCCGTGCCGGATTGGTTGAAAGCCTACGC c.4023_4024insAGCGAACGACAAAGCATATCGCTGTCCTACCTCGAACAATTATTCAGCAAGCTGCGCCGTGCCGGATTGGTTGAAAGCCTACGC (p.Ile1341_Gly1342insSerGluArgGlnSerIleSerLeuSerTyrLeuGluGlnLeuPheSerLysLeuArgArgAlaGlyLeuValGluSerLeuArg) | |
| 10 | g.104034078_104034079insCGTAGGCTTTCAACCAATCCGGCACGGCGCAGCTTGCTGAATAATTGTTCGAGGTAGGACAGCGAT | CA2510698898 | COL17A1 | c.3776_3777insATCGCTGTCCTACCTCGAACAATTATTCAGCAAGCTGCGCCGTGCCGGATTGGTTGAAAGCCTACG (p.Ile1259_Gly1260insSerLeuSerTyrLeuGluGlnLeuPheSerLysLeuArgArgAlaGlyLeuValGluSerLeuArg) c.52_53insATCGCTGTCCTACCTCGAACAATTATTCAGCAAGCTGCGCCGTGCCGGATTGGTTGAAAGCCTACG c.4022_4023insATCGCTGTCCTACCTCGAACAATTATTCAGCAAGCTGCGCCGTGCCGGATTGGTTGAAAGCCTACG (p.Ile1341_Gly1342insSerLeuSerTyrLeuGluGlnLeuPheSerLysLeuArgArgAlaGlyLeuValGluSerLeuArg) | |
| 10 | g.104034078_104034079insCGTAGGCTTTCAACCAATCCGGCACGGCGCAGCTTGCTGAATAATTGTTCGAGGTAGGAGAGCGAT | CA2546741512 | COL17A1 | c.3776_3777insATCGCTCTCCTACCTCGAACAATTATTCAGCAAGCTGCGCCGTGCCGGATTGGTTGAAAGCCTACG (p.Ile1259_Gly1260insSerLeuSerTyrLeuGluGlnLeuPheSerLysLeuArgArgAlaGlyLeuValGluSerLeuArg) c.52_53insATCGCTCTCCTACCTCGAACAATTATTCAGCAAGCTGCGCCGTGCCGGATTGGTTGAAAGCCTACG c.4022_4023insATCGCTCTCCTACCTCGAACAATTATTCAGCAAGCTGCGCCGTGCCGGATTGGTTGAAAGCCTACG (p.Ile1341_Gly1342insSerLeuSerTyrLeuGluGlnLeuPheSerLysLeuArgArgAlaGlyLeuValGluSerLeuArg) | |
| 10 | g.104034079A>C | CA378065135 | COL17A1 | c.3776T>G (p.Ile1259Ser) c.52T>G c.4022T>G (p.Ile1341Ser) | |
| 10 | g.104034079A>G | CA378065136 | COL17A1 | c.3776T>C (p.Ile1259Thr) c.52T>C c.4022T>C (p.Ile1341Thr) | |
| 10 | g.104034079A>T | CA378065138 | COL17A1 | c.3776T>A (p.Ile1259Asn) c.52T>A c.4022T>A (p.Ile1341Asn) | gnomAD v4 |
| 10 | g.104034080T>A | CA378065140 | COL17A1 | c.3775A>T (p.Ile1259Phe) c.51A>T c.4021A>T (p.Ile1341Phe) | |
| 10 | g.104034080T>C | CA5677737 | COL17A1 | c.3775A>G (p.Ile1259Val) c.51A>G c.4021A>G (p.Ile1341Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034080T>G | CA378065142 | COL17A1 | c.3775A>C (p.Ile1259Leu) c.51A>C c.4021A>C (p.Ile1341Leu) | |
| 10 | g.104034080T= | CA1933418052 | COL17A1 | c.3775A= (p.Ile1259=) c.51A= c.4021A= (p.Ile1341=) | |
| 10 | g.104034081G>A | CA5677738 | COL17A1 | c.3774C>T (p.Asp1258=) c.50C>T c.4020C>T (p.Asp1340=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034081G>C | CA378065144 | COL17A1 | c.3774C>G (p.Asp1258Glu) c.50C>G c.4020C>G (p.Asp1340Glu) | |
| 10 | g.104034081G= | CA1933418055 | COL17A1 | c.3774C= (p.Asp1258=) c.50C= c.4020C= (p.Asp1340=) | |
| 10 | g.104034081G>T | CA378065146 | COL17A1 | c.3774C>A (p.Asp1258Glu) c.50C>A c.4020C>A (p.Asp1340Glu) | |
| 10 | g.104034081_104034082insCTTTGTCGTTCGCTGATGGCACTGAGTTTGACAGCGCCTGTTTGCGCGTTCATCGCCAAATC | CA2529145027 | COL17A1 | c.3773_3774insGATTTGGCGATGAACGCGCAAACAGGCGCTGTCAAACTCAGTGCCATCAGCGAACGACAAAG (p.Asp1258GlufsTer5) c.49_50insGATTTGGCGATGAACGCGCAAACAGGCGCTGTCAAACTCAGTGCCATCAGCGAACGACAAAG c.4019_4020insGATTTGGCGATGAACGCGCAAACAGGCGCTGTCAAACTCAGTGCCATCAGCGAACGACAAAG (p.Asp1340GlufsTer5) | |
| 10 | g.104034081_104034082insCTTTGTCGTTCGCTGATGGCACTGAGTTTGACAGCGCCGGTTTGCGCGTTCATCGCCAAATC | CA2526203215 | COL17A1 | c.3773_3774insGATTTGGCGATGAACGCGCAAACCGGCGCTGTCAAACTCAGTGCCATCAGCGAACGACAAAG (p.Asp1258GlufsTer5) c.49_50insGATTTGGCGATGAACGCGCAAACCGGCGCTGTCAAACTCAGTGCCATCAGCGAACGACAAAG c.4019_4020insGATTTGGCGATGAACGCGCAAACCGGCGCTGTCAAACTCAGTGCCATCAGCGAACGACAAAG (p.Asp1340GlufsTer5) | |
| 10 | g.104034081_104034082insCTTTGTCGTTCGCTGATGGCACTGAGTTTGACAGCACCGGTTTGCGCGTTCATCGCCAAATC | CA2530744144 | COL17A1 | c.3773_3774insGATTTGGCGATGAACGCGCAAACCGGTGCTGTCAAACTCAGTGCCATCAGCGAACGACAAAG (p.Asp1258GlufsTer5) c.49_50insGATTTGGCGATGAACGCGCAAACCGGTGCTGTCAAACTCAGTGCCATCAGCGAACGACAAAG c.4019_4020insGATTTGGCGATGAACGCGCAAACCGGTGCTGTCAAACTCAGTGCCATCAGCGAACGACAAAG (p.Asp1340GlufsTer5) | |
| 10 | g.104034082T>A | CA378065147 | COL17A1 | c.3773A>T (p.Asp1258Val) c.49A>T c.4019A>T (p.Asp1340Val) | |
| 10 | g.104034082T>C | CA378065149 | COL17A1 | c.3773A>G (p.Asp1258Gly) c.49A>G c.4019A>G (p.Asp1340Gly) | |
| 10 | g.104034082T>G | CA378065150 | COL17A1 | c.3773A>C (p.Asp1258Ala) c.49A>C c.4019A>C (p.Asp1340Ala) | dbSNP |
| 10 | g.104034082T= | CA1933418059 | COL17A1 | c.3773A= (p.Asp1258=) c.49A= c.4019A= (p.Asp1340=) | |
| 10 | g.104034083C>A | CA378065154 | COL17A1 | c.3772G>T (p.Asp1258Tyr) c.48G>T c.4018G>T (p.Asp1340Tyr) | |
| 10 | g.104034083C>G | CA378065153 | COL17A1 | c.3772G>C (p.Asp1258His) c.48G>C c.4018G>C (p.Asp1340His) | |
| 10 | g.104034083C>T | CA378065152 | COL17A1 | c.3772G>A (p.Asp1258Asn) c.48G>A c.4018G>A (p.Asp1340Asn) | gnomAD v4 |
| 10 | g.104034083_104034085delinsCAG | CA1933418061 | COL17A1 | c.3770_3772delinsCTG (p.Thr1257=) c.46_48delinsCTG c.4016_4018delinsCTG (p.Thr1339=) | |
| 10 | g.104034084A= | CA1933418068 | COL17A1 | c.3771T= (p.Thr1257=) c.47T= c.4017T= (p.Thr1339=) | |
| 10 | g.104034084A>C | CA471502750 | COL17A1 | c.3771T>G (p.Thr1257=) c.47T>G c.4017T>G (p.Thr1339=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034084A>G | CA5677739 | COL17A1 | c.3771T>C (p.Thr1257=) c.47T>C c.4017T>C (p.Thr1339=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 10 | g.104034084A>T | CA471502751 | COL17A1 | c.3771T>A (p.Thr1257=) c.47T>A c.4017T>A (p.Thr1339=) | |
| 10 | g.104034084_104034085del | CA1933418069 | COL17A1 | c.3770_3771del (p.Thr1257ArgfsTer27) c.46_47del c.4016_4017del (p.Thr1339ArgfsTer27) | dbSNP |
| 10 | g.104034085G>A | CA378065156 | COL17A1 | c.3770C>T (p.Thr1257Ile) c.46C>T c.4016C>T (p.Thr1339Ile) | |
| 10 | g.104034085G>C | CA378065157 | COL17A1 | c.3770C>G (p.Thr1257Ser) c.46C>G c.4016C>G (p.Thr1339Ser) | dbSNP |
| 10 | g.104034085G= | CA1933418072 | COL17A1 | c.3770C= (p.Thr1257=) c.46C= c.4016C= (p.Thr1339=) | |
| 10 | g.104034085G>T | CA378065158 | COL17A1 | c.3770C>A (p.Thr1257Asn) c.46C>A c.4016C>A (p.Thr1339Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034086T>A | CA378065159 | COL17A1 | c.3769A>T (p.Thr1257Ser) c.45A>T c.4015A>T (p.Thr1339Ser) | |
| 10 | g.104034086T>C | CA378065160 | COL17A1 | c.3769A>G (p.Thr1257Ala) c.45A>G c.4015A>G (p.Thr1339Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034086T>G | CA378065161 | COL17A1 | c.3769A>C (p.Thr1257Pro) c.45A>C c.4015A>C (p.Thr1339Pro) | |
| 10 | g.104034086T= | CA1933418077 | COL17A1 | c.3769A= (p.Thr1257=) c.45A= c.4015A= (p.Thr1339=) | |
| 10 | g.104034087G>A | CA471502753 | COL17A1 | c.3768C>T (p.Gly1256=) c.44C>T c.4014C>T (p.Gly1338=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034087G>C | CA471502754 | COL17A1 | c.3768C>G (p.Gly1256=) c.44C>G c.4014C>G (p.Gly1338=) | |
| 10 | g.104034087G= | CA1933418081 | COL17A1 | c.3768C= (p.Gly1256=) c.44C= c.4014C= (p.Gly1338=) | |
| 10 | g.104034087G>T | CA471502755 | COL17A1 | c.3768C>A (p.Gly1256=) c.44C>A c.4014C>A (p.Gly1338=) | |
| 10 | g.104034088C>A | CA378065164 | COL17A1 | c.3767G>T (p.Gly1256Val) c.43G>T c.4013G>T (p.Gly1338Val) | |
| 10 | g.104034088C= | CA1933418084 | COL17A1 | c.3767G= (p.Gly1256=) c.43G= c.4013G= (p.Gly1338=) | |
| 10 | g.104034088C>G | CA378065165 | COL17A1 | c.3767G>C (p.Gly1256Ala) c.43G>C c.4013G>C (p.Gly1338Ala) | |
| 10 | g.104034088C>T | CA378065167 | COL17A1 | c.3767G>A (p.Gly1256Asp) c.43G>A c.4013G>A (p.Gly1338Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034089C>A | CA378065168 | COL17A1 | c.3766G>T (p.Gly1256Cys) c.42G>T c.4012G>T (p.Gly1338Cys) | |
| 10 | g.104034089C= | CA1933418088 | COL17A1 | c.3766G= (p.Gly1256=) c.42G= c.4012G= (p.Gly1338=) | |
| 10 | g.104034089C>G | CA378065169 | COL17A1 | c.3766G>C (p.Gly1256Arg) c.42G>C c.4012G>C (p.Gly1338Arg) | |
| 10 | g.104034089C>T | CA212449966 | COL17A1 | c.3766G>A (p.Gly1256Ser) c.42G>A c.4012G>A (p.Gly1338Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034090A= | CA1933418092 | COL17A1 | c.3765T= (p.Tyr1255=) c.41T= c.4011T= (p.Tyr1337=) | |
| 10 | g.104034090A>C | CA378065173 | COL17A1 | c.3765T>G (p.Tyr1255Ter) c.41T>G c.4011T>G (p.Tyr1337Ter) | |
| 10 | g.104034090A>G | CA5677740 | COL17A1 | c.3765T>C (p.Tyr1255=) c.41T>C c.4011T>C (p.Tyr1337=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.104034090A>T | CA378065171 | COL17A1 | c.3765T>A (p.Tyr1255Ter) c.41T>A c.4011T>A (p.Tyr1337Ter) | |
| 10 | g.104034091T>A | CA378065175 | COL17A1 | c.3764A>T (p.Tyr1255Phe) c.40A>T c.4010A>T (p.Tyr1337Phe) | |
| 10 | g.104034091T>C | CA378065176 | COL17A1 | c.3764A>G (p.Tyr1255Cys) c.40A>G c.4010A>G (p.Tyr1337Cys) | |
| 10 | g.104034091T>G | CA378065178 | COL17A1 | c.3764A>C (p.Tyr1255Ser) c.40A>C c.4010A>C (p.Tyr1337Ser) | dbSNP gnomAD v4 |
| 10 | g.104034091T= | CA1933418097 | COL17A1 | c.3764A= (p.Tyr1255=) c.40A= c.4010A= (p.Tyr1337=) | |
| 10 | g.104034092A= | CA1933418101 | COL17A1 | c.3763T= (p.Tyr1255=) c.39T= c.4009T= (p.Tyr1337=) | |
| 10 | g.104034092A>C | CA378065180 | COL17A1 | c.3763T>G (p.Tyr1255Asp) c.39T>G c.4009T>G (p.Tyr1337Asp) | |
| 10 | g.104034092A>G | CA378065182 | COL17A1 | c.3763T>C (p.Tyr1255His) c.39T>C c.4009T>C (p.Tyr1337His) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034092A>T | CA378065183 | COL17A1 | c.3763T>A (p.Tyr1255Asn) c.39T>A c.4009T>A (p.Tyr1337Asn) | dbSNP |
| 10 | g.104034093G>A | CA471502758 | COL17A1 | c.3762C>T (p.Pro1254=) c.38C>T c.4008C>T (p.Pro1336=) | |
| 10 | g.104034093G>C | CA471502759 | COL17A1 | c.3762C>G (p.Pro1254=) c.38C>G c.4008C>G (p.Pro1336=) | |
| 10 | g.104034093G>T | CA471502775 | COL17A1 | c.3762C>A (p.Pro1254=) c.38C>A c.4008C>A (p.Pro1336=) | |
| 10 | g.104034095del | CA2610796361 | COL17A1 | c.3762del (p.Tyr1255MetfsTer?) c.38del c.4008del (p.Tyr1337MetfsTer?) | gnomAD v4 |
| 10 | g.104034094G>A | CA378065185 | COL17A1 | c.3761C>T (p.Pro1254Leu) c.37C>T c.4007C>T (p.Pro1336Leu) | |
| 10 | g.104034094G>C | CA378065186 | COL17A1 | c.3761C>G (p.Pro1254Arg) c.37C>G c.4007C>G (p.Pro1336Arg) | |
| 10 | g.104034094G>T | CA378065188 | COL17A1 | c.3761C>A (p.Pro1254His) c.37C>A c.4007C>A (p.Pro1336His) | |
| 10 | g.104034095G>A | CA378065190 | COL17A1 | c.3760C>T (p.Pro1254Ser) c.36C>T c.4006C>T (p.Pro1336Ser) | |
| 10 | g.104034095G>C | CA378065191 | COL17A1 | c.3760C>G (p.Pro1254Ala) c.36C>G c.4006C>G (p.Pro1336Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034095G= | CA1933418104 | COL17A1 | c.3760C= (p.Pro1254=) c.36C= c.4006C= (p.Pro1336=) | |
| 10 | g.104034095G>T | CA378065192 | COL17A1 | c.3760C>A (p.Pro1254Thr) c.36C>A c.4006C>A (p.Pro1336Thr) | |
| 10 | g.104034096A= | CA1933418108 | COL17A1 | c.3759T= (p.Gly1253=) c.35T= c.4005T= (p.Gly1335=) | |
| 10 | g.104034096A>C | CA471502779 | COL17A1 | c.3759T>G (p.Gly1253=) c.35T>G c.4005T>G (p.Gly1335=) | dbSNP |
| 10 | g.104034096A>G | CA471502777 | COL17A1 | c.3759T>C (p.Gly1253=) c.35T>C c.4005T>C (p.Gly1335=) | |
| 10 | g.104034096A>T | CA471502778 | COL17A1 | c.3759T>A (p.Gly1253=) c.35T>A c.4005T>A (p.Gly1335=) | |
| 10 | g.104034096_104034097delinsAC | CA1933418106 | COL17A1 | c.3758_3759delinsGT (p.Gly1253=) c.34_35delinsGT c.4004_4005delinsGT (p.Gly1335=) | |
| 10 | g.104034097C>A | CA378065196 | COL17A1 | c.3758G>T (p.Gly1253Val) c.34G>T c.4004G>T (p.Gly1335Val) | |
| 10 | g.104034097C= | CA1933418112 | COL17A1 | c.3758G= (p.Gly1253=) c.34G= c.4004G= (p.Gly1335=) | |
| 10 | g.104034097C>G | CA378065194 | COL17A1 | c.3758G>C (p.Gly1253Ala) c.34G>C c.4004G>C (p.Gly1335Ala) | |
| 10 | g.104034097C>T | CA5677741 | COL17A1 | c.3758G>A (p.Gly1253Asp) c.34G>A c.4004G>A (p.Gly1335Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034100del | CA1933418110 | COL17A1 | c.3758del (p.Gly1253ValfsTer?) c.34del c.4004del (p.Gly1335ValfsTer?) | dbSNP gnomAD v4 |
| 10 | g.104034098C>A | CA378065198 | COL17A1 | c.3757G>T (p.Gly1253Cys) c.33G>T c.4003G>T (p.Gly1335Cys) | ClinVar dbSNP gnomAD v4 |
| 10 | g.104034098C= | CA1933418115 | COL17A1 | c.3757G= (p.Gly1253=) c.33G= c.4003G= (p.Gly1335=) | |
| 10 | g.104034098C>G | CA378065199 | COL17A1 | c.3757G>C (p.Gly1253Arg) c.33G>C c.4003G>C (p.Gly1335Arg) | |
| 10 | g.104034098C>T | CA378065201 | COL17A1 | c.3757G>A (p.Gly1253Ser) c.33G>A c.4003G>A (p.Gly1335Ser) | |
| 10 | g.104034099C>A | CA378065203 | COL17A1 | c.3756G>T (p.Arg1252Ser) c.32G>T c.4002G>T (p.Arg1334Ser) | |
| 10 | g.104034099C= | CA1933418118 | COL17A1 | c.3756G= (p.Arg1252=) c.32G= c.4002G= (p.Arg1334=) | |
| 10 | g.104034099C>G | CA5677742 | COL17A1 | c.3756G>C (p.Arg1252Ser) c.32G>C c.4002G>C (p.Arg1334Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034099C>T | CA471502782 | COL17A1 | c.3756G>A (p.Arg1252=) c.32G>A c.4002G>A (p.Arg1334=) | COSMIC |
| 10 | g.104034099_104034101delinsCCT | CA1933418119 | COL17A1 | c.3754_3756delinsAGG (p.Arg1252=) c.30_32delinsAGG c.4000_4002delinsAGG (p.Arg1334=) | |
| 10 | g.104034100C>A | CA378065205 | COL17A1 | c.3755G>T (p.Arg1252Met) c.31G>T c.4001G>T (p.Arg1334Met) | |
| 10 | g.104034100C= | CA1933418124 | COL17A1 | c.3755G= (p.Arg1252=) c.31G= c.4001G= (p.Arg1334=) | |
| 10 | g.104034100C>G | CA378065207 | COL17A1 | c.3755G>C (p.Arg1252Thr) c.31G>C c.4001G>C (p.Arg1334Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034100C>T | CA378065208 | COL17A1 | c.3755G>A (p.Arg1252Lys) c.31G>A c.4001G>A (p.Arg1334Lys) | |
| 10 | g.104034100_104034101del | CA659193854 | COL17A1 | c.3754_3755del (p.Arg1252GlyfsTer6) c.30_31del c.4000_4001del (p.Arg1334GlyfsTer6) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034100_104034101delinsCT | CA1933418122 | COL17A1 | c.3754_3755delinsAG (p.Arg1252=) c.30_31delinsAG c.4000_4001delinsAG (p.Arg1334=) | |
| 10 | g.104034101del | CA5677743 | COL17A1 | c.3754del (p.Arg1252GlyfsTer?) c.30del c.4000del (p.Arg1334GlyfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034101T>A | CA378065209 | COL17A1 | c.3754A>T (p.Arg1252Trp) c.30A>T c.4000A>T (p.Arg1334Trp) | |
| 10 | g.104034101T>C | CA5677744 | COL17A1 | c.3754A>G (p.Arg1252Gly) c.30A>G c.4000A>G (p.Arg1334Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034101T>G | CA471502786 | COL17A1 | c.3754A>C (p.Arg1252=) c.30A>C c.4000A>C (p.Arg1334=) | gnomAD v4 |
| 10 | g.104034101T= | CA1933418130 | COL17A1 | c.3754A= (p.Arg1252=) c.30A= c.4000A= (p.Arg1334=) | |
| 10 | g.104034102G>A | CA471502788 | COL17A1 | c.3753C>T (p.Asp1251=) c.29C>T c.3999C>T (p.Asp1333=) | |
| 10 | g.104034102G>C | CA378065212 | COL17A1 | c.3753C>G (p.Asp1251Glu) c.29C>G c.3999C>G (p.Asp1333Glu) | |
| 10 | g.104034102G>T | CA378065214 | COL17A1 | c.3753C>A (p.Asp1251Glu) c.29C>A c.3999C>A (p.Asp1333Glu) |