UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.15930677T>A | CA338614433 | SPEN | c.*5288T>A (n.*5288T>A) c.34T>A c.4437T>A (p.Asp1479Glu) | |
| 1 | g.15930677T>C | CA416380154 | SPEN | c.*5288T>C (n.*5288T>C) c.34T>C c.4437T>C (p.Asp1479=) | |
| 1 | g.15930677T>G | CA338614435 | SPEN | c.*5288T>G (n.*5288T>G) c.34T>G c.4437T>G (p.Asp1479Glu) | |
| 1 | g.15930677_15930681delinsTAAAG | CA1155574296 | SPEN | c.*5288_*5292delinsTAAAG (n.*5288_*5292delinsTAAAG) c.34_38delinsTAAAG c.4437_4441delinsTAAAG (p.Asp1479=) | |
| 1 | g.15930678A>C | CA338614437 | SPEN | c.*5289A>C (n.*5289A>C) c.35A>C c.4438A>C (p.Lys1480Gln) | |
| 1 | g.15930678A>G | CA338614439 | SPEN | c.*5289A>G (n.*5289A>G) c.35A>G c.4438A>G (p.Lys1480Glu) | gnomAD v4 |
| 1 | g.15930678A>T | CA338614441 | SPEN | c.*5289A>T (n.*5289A>T) c.35A>T c.4438A>T (p.Lys1480Ter) | COSMIC |
| 1 | g.15930681_15930684del | CA645512405 | SPEN | c.*5292_*5295del (n.*5292_*5295del) c.38_41del c.4441_4444del (p.Glu1481ArgfsTer14) | dbSNP COSMIC |
| 1 | g.15930679A>C | CA338614452 | SPEN | c.*5290A>C (n.*5290A>C) c.36A>C c.4439A>C (p.Lys1480Thr) | |
| 1 | g.15930679A>G | CA338614446 | SPEN | c.*5290A>G (n.*5290A>G) c.36A>G c.4439A>G (p.Lys1480Arg) | |
| 1 | g.15930679A>T | CA338614444 | SPEN | c.*5290A>T (n.*5290A>T) c.36A>T c.4439A>T (p.Lys1480Ile) | |
| 1 | g.15930680A>C | CA338614454 | SPEN | c.*5291A>C (n.*5291A>C) c.37A>C c.4440A>C (p.Lys1480Asn) | |
| 1 | g.15930680A>G | CA416380165 | SPEN | c.*5291A>G (n.*5291A>G) c.37A>G c.4440A>G (p.Lys1480=) | |
| 1 | g.15930680A>T | CA338614456 | SPEN | c.*5291A>T (n.*5291A>T) c.37A>T c.4440A>T (p.Lys1480Asn) | |
| 1 | g.15930681G>A | CA18278215 | SPEN | c.*5292G>A (n.*5292G>A) c.38G>A c.4441G>A (p.Glu1481Lys) | dbSNP COSMIC |
| 1 | g.15930681G>C | CA338614460 | SPEN | c.*5292G>C (n.*5292G>C) c.38G>C c.4441G>C (p.Glu1481Gln) | |
| 1 | g.15930681G= | CA1142071958 | SPEN | c.*5292G= (n.*5292G=) c.38G= c.4441G= (p.Glu1481=) | |
| 1 | g.15930681G>T | CA338614462 | SPEN | c.*5292G>T (n.*5292G>T) c.38G>T c.4441G>T (p.Glu1481Ter) | |
| 1 | g.15930682A>C | CA338614465 | SPEN | c.*5293A>C (n.*5293A>C) c.39A>C c.4442A>C (p.Glu1481Ala) | |
| 1 | g.15930682A>G | CA338614467 | SPEN | c.*5293A>G (n.*5293A>G) c.39A>G c.4442A>G (p.Glu1481Gly) | |
| 1 | g.15930682A>T | CA338614468 | SPEN | c.*5293A>T (n.*5293A>T) c.39A>T c.4442A>T (p.Glu1481Val) | |
| 1 | g.15930683A= | CA1155574302 | SPEN | c.*5294A= (n.*5294A=) c.40A= c.4443A= (p.Glu1481=) | |
| 1 | g.15930683A>C | CA338614473 | SPEN | c.*5294A>C (n.*5294A>C) c.40A>C c.4443A>C (p.Glu1481Asp) | |
| 1 | g.15930683A>G | CA18278216 | SPEN | c.*5294A>G (n.*5294A>G) c.40A>G c.4443A>G (p.Glu1481=) | dbSNP |
| 1 | g.15930683A>T | CA338614478 | SPEN | c.*5294A>T (n.*5294A>T) c.40A>T c.4443A>T (p.Glu1481Asp) | |
| 1 | g.15930684A>C | CA338614482 | SPEN | c.*5295A>C (n.*5295A>C) c.41A>C c.4444A>C (p.Lys1482Gln) | |
| 1 | g.15930684A>G | CA338614492 | SPEN | c.*5295A>G (n.*5295A>G) c.41A>G c.4444A>G (p.Lys1482Glu) | |
| 1 | g.15930684A>T | CA338614494 | SPEN | c.*5295A>T (n.*5295A>T) c.41A>T c.4444A>T (p.Lys1482Ter) | |
| 1 | g.15930685A>C | CA338614504 | SPEN | c.*5296A>C (n.*5296A>C) c.42A>C c.4445A>C (p.Lys1482Thr) | |
| 1 | g.15930685A>G | CA338614501 | SPEN | c.*5296A>G (n.*5296A>G) c.42A>G c.4445A>G (p.Lys1482Arg) | |
| 1 | g.15930685A>T | CA338614497 | SPEN | c.*5296A>T (n.*5296A>T) c.42A>T c.4445A>T (p.Lys1482Met) | |
| 1 | g.15930685_15930686insTA | CA2643540722 | SPEN | c.*5296_*5297insTA (n.*5296_*5297insTA) c.42_43insTA c.4445_4446insTA (p.Lys1482AsnfsTer15) | gnomAD v4 |
| 1 | g.15930686G>A | CA416380178 | SPEN | c.*5297G>A (n.*5297G>A) c.43G>A c.4446G>A (p.Lys1482=) | |
| 1 | g.15930686G>C | CA338614515 | SPEN | c.*5297G>C (n.*5297G>C) c.43G>C c.4446G>C (p.Lys1482Asn) | |
| 1 | g.15930686G>T | CA338614524 | SPEN | c.*5297G>T (n.*5297G>T) c.43G>T c.4446G>T (p.Lys1482Asn) | gnomAD v4 |
| 1 | g.15930687G>A | CA18278218 | SPEN | c.*5298G>A (n.*5298G>A) c.44G>A c.4447G>A (p.Val1483Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.15930687G>C | CA338614534 | SPEN | c.*5298G>C (n.*5298G>C) c.44G>C c.4447G>C (p.Val1483Leu) | |
| 1 | g.15930687G= | CA1155574306 | SPEN | c.*5298G= (n.*5298G=) c.44G= c.4447G= (p.Val1483=) | |
| 1 | g.15930687G>T | CA338614559 | SPEN | c.*5298G>T (n.*5298G>T) c.44G>T c.4447G>T (p.Val1483Phe) | |
| 1 | g.15930688T>A | CA338614566 | SPEN | c.*5299T>A (n.*5299T>A) c.45T>A c.4448T>A (p.Val1483Asp) | |
| 1 | g.15930688T>C | CA338614568 | SPEN | c.*5299T>C (n.*5299T>C) c.45T>C c.4448T>C (p.Val1483Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.15930688T>G | CA338614570 | SPEN | c.*5299T>G (n.*5299T>G) c.45T>G c.4448T>G (p.Val1483Gly) | |
| 1 | g.15930688T= | CA1155574311 | SPEN | c.*5299T= (n.*5299T=) c.45T= c.4448T= (p.Val1483=) | |
| 1 | g.15930689_15930693del | CA2643540723 | SPEN | c.*5300_*5304del (n.*5300_*5304del) c.46_50del c.4449_4453del (p.Asp1484CysfsTer16) | gnomAD v4 |
| 1 | g.15930689T>A | CA416380183 | SPEN | c.*5300T>A (n.*5300T>A) c.46T>A c.4449T>A (p.Val1483=) | |
| 1 | g.15930689T>C | CA416380186 | SPEN | c.*5300T>C (n.*5300T>C) c.46T>C c.4449T>C (p.Val1483=) | |
| 1 | g.15930689T>G | CA416380185 | SPEN | c.*5300T>G (n.*5300T>G) c.46T>G c.4449T>G (p.Val1483=) | |
| 1 | g.15930690G>A | CA619578 | SPEN | c.*5301G>A (n.*5301G>A) c.47G>A c.4450G>A (p.Asp1484Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.15930690G>C | CA338614578 | SPEN | c.*5301G>C (n.*5301G>C) c.47G>C c.4450G>C (p.Asp1484His) | |
| 1 | g.15930690G= | CA1155574319 | SPEN | c.*5301G= (n.*5301G=) c.47G= c.4450G= (p.Asp1484=) | |
| 1 | g.15930690G>T | CA338614580 | SPEN | c.*5301G>T (n.*5301G>T) c.47G>T c.4450G>T (p.Asp1484Tyr) | |
| 1 | g.15930691A>C | CA338614584 | SPEN | c.*5302A>C (n.*5302A>C) c.48A>C c.4451A>C (p.Asp1484Ala) | |
| 1 | g.15930691A>G | CA338614585 | SPEN | c.*5302A>G (n.*5302A>G) c.48A>G c.4451A>G (p.Asp1484Gly) | |
| 1 | g.15930691A>T | CA338614589 | SPEN | c.*5302A>T (n.*5302A>T) c.48A>T c.4451A>T (p.Asp1484Val) | |
| 1 | g.15930692C>A | CA338614591 | SPEN | c.*5303C>A (n.*5303C>A) c.49C>A c.4452C>A (p.Asp1484Glu) | |
| 1 | g.15930692C>G | CA338614590 | SPEN | c.*5303C>G (n.*5303C>G) c.49C>G c.4452C>G (p.Asp1484Glu) | |
| 1 | g.15930692C>T | CA416380190 | SPEN | c.*5303C>T (n.*5303C>T) c.49C>T c.4452C>T (p.Asp1484=) | |
| 1 | g.15930693T>A | CA338614593 | SPEN | c.*5304T>A (n.*5304T>A) c.50T>A c.4453T>A (p.Ser1485Thr) | gnomAD v4 |
| 1 | g.15930693T>C | CA338614595 | SPEN | c.*5304T>C (n.*5304T>C) c.50T>C c.4453T>C (p.Ser1485Pro) | |
| 1 | g.15930693T>G | CA338614597 | SPEN | c.*5304T>G (n.*5304T>G) c.50T>G c.4453T>G (p.Ser1485Ala) | |
| 1 | g.15930694C>A | CA338614601 | SPEN | c.*5305C>A (n.*5305C>A) c.51C>A c.4454C>A (p.Ser1485Tyr) | |
| 1 | g.15930694C>G | CA338614602 | SPEN | c.*5305C>G (n.*5305C>G) c.51C>G c.4454C>G (p.Ser1485Cys) | ClinVar |
| 1 | g.15930694C>T | CA338614603 | SPEN | c.*5305C>T (n.*5305C>T) c.51C>T c.4454C>T (p.Ser1485Phe) | |
| 1 | g.15930695T>A | CA416380196 | SPEN | c.*5306T>A (n.*5306T>A) c.52T>A c.4455T>A (p.Ser1485=) | |
| 1 | g.15930695T>C | CA416380197 | SPEN | c.*5306T>C (n.*5306T>C) c.52T>C c.4455T>C (p.Ser1485=) | gnomAD v4 |
| 1 | g.15930695T>G | CA416380199 | SPEN | c.*5306T>G (n.*5306T>G) c.52T>G c.4455T>G (p.Ser1485=) | |
| 1 | g.15930696G>A | CA619579 | SPEN | c.*5307G>A (n.*5307G>A) c.53G>A c.4456G>A (p.Ala1486Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.15930696G>C | CA338614611 | SPEN | c.*5307G>C (n.*5307G>C) c.53G>C c.4456G>C (p.Ala1486Pro) | |
| 1 | g.15930696G= | CA1147171706 | SPEN | c.*5307G= (n.*5307G=) c.53G= c.4456G= (p.Ala1486=) | |
| 1 | g.15930696G>T | CA338614614 | SPEN | c.*5307G>T (n.*5307G>T) c.53G>T c.4456G>T (p.Ala1486Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.15930697C>A | CA338614617 | SPEN | c.*5308C>A (n.*5308C>A) c.54C>A c.4457C>A (p.Ala1486Asp) | |
| 1 | g.15930697C= | CA1155574330 | SPEN | c.*5308C= (n.*5308C=) c.54C= c.4457C= (p.Ala1486=) | |
| 1 | g.15930697C>G | CA338614618 | SPEN | c.*5308C>G (n.*5308C>G) c.54C>G c.4457C>G (p.Ala1486Gly) | |
| 1 | g.15930697C>T | CA619580 | SPEN | c.*5308C>T (n.*5308C>T) c.54C>T c.4457C>T (p.Ala1486Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.15930698T>A | CA416380201 | SPEN | c.*5309T>A (n.*5309T>A) c.55T>A c.4458T>A (p.Ala1486=) | |
| 1 | g.15930698T>C | CA416380203 | SPEN | c.*5309T>C (n.*5309T>C) c.55T>C c.4458T>C (p.Ala1486=) | |
| 1 | g.15930698T>G | CA416380205 | SPEN | c.*5309T>G (n.*5309T>G) c.55T>G c.4458T>G (p.Ala1486=) | |
| 1 | g.15930699C>A | CA338614627 | SPEN | c.*5310C>A (n.*5310C>A) c.56C>A c.4459C>A (p.Pro1487Thr) | |
| 1 | g.15930699C= | CA1155574336 | SPEN | c.*5310C= (n.*5310C=) c.56C= c.4459C= (p.Pro1487=) | |
| 1 | g.15930699C>G | CA338614631 | SPEN | c.*5310C>G (n.*5310C>G) c.56C>G c.4459C>G (p.Pro1487Ala) | |
| 1 | g.15930699C>T | CA619581 | SPEN | c.*5310C>T (n.*5310C>T) c.56C>T c.4459C>T (p.Pro1487Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.15930700C>A | CA338614648 | SPEN | c.*5311C>A (n.*5311C>A) c.57C>A c.4460C>A (p.Pro1487Gln) | |
| 1 | g.15930700C= | CA1155574345 | SPEN | c.*5311C= (n.*5311C=) c.57C= c.4460C= (p.Pro1487=) | |
| 1 | g.15930700C>G | CA338614654 | SPEN | c.*5311C>G (n.*5311C>G) c.57C>G c.4460C>G (p.Pro1487Arg) | |
| 1 | g.15930700C>T | CA338614656 | SPEN | c.*5311C>T (n.*5311C>T) c.57C>T c.4460C>T (p.Pro1487Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.15930701A>C | CA416380208 | SPEN | c.*5312A>C (n.*5312A>C) c.58A>C c.4461A>C (p.Pro1487=) | |
| 1 | g.15930701A>G | CA416380209 | SPEN | c.*5312A>G (n.*5312A>G) c.58A>G c.4461A>G (p.Pro1487=) | |
| 1 | g.15930701A>T | CA416380210 | SPEN | c.*5312A>T (n.*5312A>T) c.58A>T c.4461A>T (p.Pro1487=) | |
| 1 | g.15930702A>C | CA416380211 | SPEN | c.*5313A>C (n.*5313A>C) c.59A>C c.4462A>C (p.Arg1488=) | |
| 1 | g.15930702A>G | CA338614664 | SPEN | c.*5313A>G (n.*5313A>G) c.59A>G c.4462A>G (p.Arg1488Gly) | |
| 1 | g.15930702A>T | CA338614677 | SPEN | c.*5313A>T (n.*5313A>T) c.59A>T c.4462A>T (p.Arg1488Ter) | |
| 1 | g.15930703G>A | CA338614681 | SPEN | c.*5314G>A (n.*5314G>A) c.60G>A c.4463G>A (p.Arg1488Lys) | |
| 1 | g.15930703G>C | CA338614683 | SPEN | c.*5314G>C (n.*5314G>C) c.60G>C c.4463G>C (p.Arg1488Thr) | |
| 1 | g.15930703G>T | CA338614686 | SPEN | c.*5314G>T (n.*5314G>T) c.60G>T c.4463G>T (p.Arg1488Ile) | COSMIC |
| 1 | g.15930704A>C | CA338614693 | SPEN | c.*5315A>C (n.*5315A>C) c.61A>C c.4464A>C (p.Arg1488Ser) | |
| 1 | g.15930704A>G | CA416380213 | SPEN | c.*5315A>G (n.*5315A>G) c.61A>G c.4464A>G (p.Arg1488=) | |
| 1 | g.15930704A>T | CA338614703 | SPEN | c.*5315A>T (n.*5315A>T) c.61A>T c.4464A>T (p.Arg1488Ser) | |
| 1 | g.15930705C>A | CA338614708 | SPEN | c.*5316C>A (n.*5316C>A) c.62C>A c.4465C>A (p.Pro1489Thr) | |
| 1 | g.15930705C>G | CA338614710 | SPEN | c.*5316C>G (n.*5316C>G) c.62C>G c.4465C>G (p.Pro1489Ala) | gnomAD v4 |
| 1 | g.15930705C>T | CA338614714 | SPEN | c.*5316C>T (n.*5316C>T) c.62C>T c.4465C>T (p.Pro1489Ser) | |
| 1 | g.15930706C>A | CA338614730 | SPEN | c.*5317C>A (n.*5317C>A) c.63C>A c.4466C>A (p.Pro1489His) | |
| 1 | g.15930706C>G | CA338614722 | SPEN | c.*5317C>G (n.*5317C>G) c.63C>G c.4466C>G (p.Pro1489Arg) | gnomAD v4 COSMIC |
| 1 | g.15930706C>T | CA338614720 | SPEN | c.*5317C>T (n.*5317C>T) c.63C>T c.4466C>T (p.Pro1489Leu) | |
| 1 | g.15930707T>A | CA416380216 | SPEN | c.*5318T>A (n.*5318T>A) c.64T>A c.4467T>A (p.Pro1489=) | |
| 1 | g.15930707T>C | CA416380215 | SPEN | c.*5318T>C (n.*5318T>C) c.64T>C c.4467T>C (p.Pro1489=) | |
| 1 | g.15930707T>G | CA416380217 | SPEN | c.*5318T>G (n.*5318T>G) c.64T>G c.4467T>G (p.Pro1489=) | |
| 1 | g.15930708A= | CA1155574352 | SPEN | c.*5319A= (n.*5319A=) c.65A= c.4468A= (p.Ile1490=) | |
| 1 | g.15930708A>C | CA338614734 | SPEN | c.*5319A>C (n.*5319A>C) c.65A>C c.4468A>C (p.Ile1490Leu) | |
| 1 | g.15930708A>G | CA619582 | SPEN | c.*5319A>G (n.*5319A>G) c.65A>G c.4468A>G (p.Ile1490Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.15930708A>T | CA338614751 | SPEN | c.*5319A>T (n.*5319A>T) c.65A>T c.4468A>T (p.Ile1490Phe) | |
| 1 | g.15930709T>A | CA338614754 | SPEN | c.*5320T>A (n.*5320T>A) c.66T>A c.4469T>A (p.Ile1490Asn) | |
| 1 | g.15930709T>C | CA338614755 | SPEN | c.*5320T>C (n.*5320T>C) c.66T>C c.4469T>C (p.Ile1490Thr) | |
| 1 | g.15930709T>G | CA338614756 | SPEN | c.*5320T>G (n.*5320T>G) c.66T>G c.4469T>G (p.Ile1490Ser) | |
| 1 | g.15930710T>A | CA416380220 | SPEN | c.*5321T>A (n.*5321T>A) c.67T>A c.4470T>A (p.Ile1490=) | |
| 1 | g.15930710T>C | CA416380221 | SPEN | c.*5321T>C (n.*5321T>C) c.67T>C c.4470T>C (p.Ile1490=) | |
| 1 | g.15930710T>G | CA338614758 | SPEN | c.*5321T>G (n.*5321T>G) c.67T>G c.4470T>G (p.Ile1490Met) | |
| 1 | g.15930711C>A | CA338614762 | SPEN | c.*5322C>A (n.*5322C>A) c.68C>A c.4471C>A (p.Pro1491Thr) | |
| 1 | g.15930711C>G | CA338614764 | SPEN | c.*5322C>G (n.*5322C>G) c.68C>G c.4471C>G (p.Pro1491Ala) | |
| 1 | g.15930711C>T | CA338614771 | SPEN | c.*5322C>T (n.*5322C>T) c.68C>T c.4471C>T (p.Pro1491Ser) | |
| 1 | g.15930712C>A | CA338614777 | SPEN | c.*5323C>A (n.*5323C>A) c.69C>A c.4472C>A (p.Pro1491Gln) | |
| 1 | g.15930712C>G | CA338614779 | SPEN | c.*5323C>G (n.*5323C>G) c.69C>G c.4472C>G (p.Pro1491Arg) | |
| 1 | g.15930712C>T | CA338614783 | SPEN | c.*5323C>T (n.*5323C>T) c.69C>T c.4472C>T (p.Pro1491Leu) | |
| 1 | g.15930713A>C | CA416380225 | SPEN | c.*5324A>C (n.*5324A>C) c.70A>C c.4473A>C (p.Pro1491=) | |
| 1 | g.15930713A>G | CA416380226 | SPEN | c.*5324A>G (n.*5324A>G) c.70A>G c.4473A>G (p.Pro1491=) | gnomAD v4 |
| 1 | g.15930713A>T | CA416380227 | SPEN | c.*5324A>T (n.*5324A>T) c.70A>T c.4473A>T (p.Pro1491=) | |
| 1 | g.15930714T>A | CA338614794 | SPEN | c.*5325T>A (n.*5325T>A) c.71T>A c.4474T>A (p.Ser1492Thr) | |
| 1 | g.15930714T>C | CA338614792 | SPEN | c.*5325T>C (n.*5325T>C) c.71T>C c.4474T>C (p.Ser1492Pro) | |
| 1 | g.15930714T>G | CA338614789 | SPEN | c.*5325T>G (n.*5325T>G) c.71T>G c.4474T>G (p.Ser1492Ala) | |
| 1 | g.15930715C>A | CA338614800 | SPEN | c.*5326C>A (n.*5326C>A) c.72C>A c.4475C>A (p.Ser1492Tyr) | |
| 1 | g.15930715C>G | CA338614830 | SPEN | c.*5326C>G (n.*5326C>G) c.72C>G c.4475C>G (p.Ser1492Cys) | |
| 1 | g.15930715C>T | CA338614821 | SPEN | c.*5326C>T (n.*5326C>T) c.72C>T c.4475C>T (p.Ser1492Phe) | |
| 1 | g.15930716C>A | CA416380229 | SPEN | c.*5327C>A (n.*5327C>A) c.73C>A c.4476C>A (p.Ser1492=) | |
| 1 | g.15930716C>G | CA416380230 | SPEN | c.*5327C>G (n.*5327C>G) c.73C>G c.4476C>G (p.Ser1492=) | gnomAD v4 |
| 1 | g.15930716C>T | CA416380231 | SPEN | c.*5327C>T (n.*5327C>T) c.73C>T c.4476C>T (p.Ser1492=) | dbSNP gnomAD v4 |
| 1 | g.15930717T>A | CA338614836 | SPEN | c.*5328T>A (n.*5328T>A) c.74T>A c.4477T>A (p.Trp1493Arg) | |
| 1 | g.15930717T>C | CA338614842 | SPEN | c.*5328T>C (n.*5328T>C) c.74T>C c.4477T>C (p.Trp1493Arg) | |
| 1 | g.15930717T>G | CA338614839 | SPEN | c.*5328T>G (n.*5328T>G) c.74T>G c.4477T>G (p.Trp1493Gly) | |
| 1 | g.15930718G>A | CA338614849 | SPEN | c.*5329G>A (n.*5329G>A) c.75G>A c.4478G>A (p.Trp1493Ter) | |
| 1 | g.15930718G>C | CA338614856 | SPEN | c.*5329G>C (n.*5329G>C) c.75G>C c.4478G>C (p.Trp1493Ser) | |
| 1 | g.15930718G>T | CA338614853 | SPEN | c.*5329G>T (n.*5329G>T) c.75G>T c.4478G>T (p.Trp1493Leu) | |
| 1 | g.15930719G>A | CA338614861 | SPEN | c.*5330G>A (n.*5330G>A) c.76G>A c.4479G>A (p.Trp1493Ter) | |
| 1 | g.15930719G>C | CA338614865 | SPEN | c.*5330G>C (n.*5330G>C) c.76G>C c.4479G>C (p.Trp1493Cys) | |
| 1 | g.15930719G>T | CA338614882 | SPEN | c.*5330G>T (n.*5330G>T) c.76G>T c.4479G>T (p.Trp1493Cys) | |
| 1 | g.15930720T>A | CA338614884 | SPEN | c.*5331T>A (n.*5331T>A) c.77T>A c.4480T>A (p.Tyr1494Asn) | |
| 1 | g.15930720T>C | CA338614888 | SPEN | c.*5331T>C (n.*5331T>C) c.77T>C c.4480T>C (p.Tyr1494His) | |
| 1 | g.15930720T>G | CA338614898 | SPEN | c.*5331T>G (n.*5331T>G) c.77T>G c.4480T>G (p.Tyr1494Asp) | |
| 1 | g.15930721A>C | CA338614901 | SPEN | c.*5332A>C (n.*5332A>C) c.78A>C c.4481A>C (p.Tyr1494Ser) | |
| 1 | g.15930721A>G | CA338614903 | SPEN | c.*5332A>G (n.*5332A>G) c.78A>G c.4481A>G (p.Tyr1494Cys) | |
| 1 | g.15930721A>T | CA338614906 | SPEN | c.*5332A>T (n.*5332A>T) c.78A>T c.4481A>T (p.Tyr1494Phe) | |
| 1 | g.15930722C>A | CA338614908 | SPEN | c.*5333C>A (n.*5333C>A) c.79C>A c.4482C>A (p.Tyr1494Ter) | |
| 1 | g.15930722C>G | CA338614911 | SPEN | c.*5333C>G (n.*5333C>G) c.79C>G c.4482C>G (p.Tyr1494Ter) | |
| 1 | g.15930722C>T | CA416380236 | SPEN | c.*5333C>T (n.*5333C>T) c.79C>T c.4482C>T (p.Tyr1494=) | |
| 1 | g.15930723A>C | CA338614920 | SPEN | c.*5334A>C (n.*5334A>C) c.80A>C c.4483A>C (p.Met1495Leu) | |
| 1 | g.15930723A>G | CA338614930 | SPEN | c.*5334A>G (n.*5334A>G) c.80A>G c.4483A>G (p.Met1495Val) | |
| 1 | g.15930723A>T | CA338614926 | SPEN | c.*5334A>T (n.*5334A>T) c.80A>T c.4483A>T (p.Met1495Leu) | |
| 1 | g.15930724T>A | CA338614935 | SPEN | c.*5335T>A (n.*5335T>A) c.81T>A c.4484T>A (p.Met1495Lys) | |
| 1 | g.15930724T>C | CA619583 | SPEN | c.*5335T>C (n.*5335T>C) c.81T>C c.4484T>C (p.Met1495Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.15930724T>G | CA338614937 | SPEN | c.*5335T>G (n.*5335T>G) c.81T>G c.4484T>G (p.Met1495Arg) | |
| 1 | g.15930724T= | CA1155574357 | SPEN | c.*5335T= (n.*5335T=) c.81T= c.4484T= (p.Met1495=) | |
| 1 | g.15930725G>A | CA338614940 | SPEN | c.*5336G>A (n.*5336G>A) c.82G>A c.4485G>A (p.Met1495Ile) | COSMIC |
| 1 | g.15930725G>C | CA338614941 | SPEN | c.*5336G>C (n.*5336G>C) c.82G>C c.4485G>C (p.Met1495Ile) | |
| 1 | g.15930725G>T | CA338614947 | SPEN | c.*5336G>T (n.*5336G>T) c.82G>T c.4485G>T (p.Met1495Ile) | |
| 1 | g.15930726A>C | CA338614957 | SPEN | c.*5337A>C (n.*5337A>C) c.83A>C c.4486A>C (p.Lys1496Gln) | |
| 1 | g.15930726A>G | CA338614960 | SPEN | c.*5337A>G (n.*5337A>G) c.83A>G c.4486A>G (p.Lys1496Glu) | |
| 1 | g.15930726A>T | CA338614964 | SPEN | c.*5337A>T (n.*5337A>T) c.83A>T c.4486A>T (p.Lys1496Ter) | |
| 1 | g.15930727A>C | CA338614973 | SPEN | c.*5338A>C (n.*5338A>C) c.84A>C c.4487A>C (p.Lys1496Thr) | |
| 1 | g.15930727A>G | CA338614974 | SPEN | c.*5338A>G (n.*5338A>G) c.84A>G c.4487A>G (p.Lys1496Arg) | |
| 1 | g.15930727A>T | CA338614972 | SPEN | c.*5338A>T (n.*5338A>T) c.84A>T c.4487A>T (p.Lys1496Ile) | |
| 1 | g.15930728A>C | CA338614975 | SPEN | c.*5339A>C (n.*5339A>C) c.85A>C c.4488A>C (p.Lys1496Asn) | |
| 1 | g.15930728A>G | CA416380240 | SPEN | c.*5339A>G (n.*5339A>G) c.85A>G c.4488A>G (p.Lys1496=) | gnomAD v4 |
| 1 | g.15930728A>T | CA338614976 | SPEN | c.*5339A>T (n.*5339A>T) c.85A>T c.4488A>T (p.Lys1496Asn) | |
| 1 | g.15930728_15930731delinsAAAG | CA1155574361 | SPEN | c.*5339_*5342delinsAAAG (n.*5339_*5342delinsAAAG) c.85_88delinsAAAG c.4488_4491delinsAAAG (p.Lys1496=) | |
| 1 | g.15930729A>C | CA338614990 | SPEN | c.*5340A>C (n.*5340A>C) c.86A>C c.4489A>C (p.Lys1497Gln) | |
| 1 | g.15930729A>G | CA338615005 | SPEN | c.*5340A>G (n.*5340A>G) c.86A>G c.4489A>G (p.Lys1497Glu) | |
| 1 | g.15930729A>T | CA338615008 | SPEN | c.*5340A>T (n.*5340A>T) c.86A>T c.4489A>T (p.Lys1497Ter) | |
| 1 | g.15930734_15930736del | CA619584 | SPEN | c.*5345_*5347del (n.*5345_*5347del) c.91_93del c.4494_4496del (p.Lys1499del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.15930730A>C | CA338615014 | SPEN | c.*5341A>C (n.*5341A>C) c.87A>C c.4490A>C (p.Lys1497Thr) | |
| 1 | g.15930730A>G | CA338615015 | SPEN | c.*5341A>G (n.*5341A>G) c.87A>G c.4490A>G (p.Lys1497Arg) | |
| 1 | g.15930730A>T | CA338615016 | SPEN | c.*5341A>T (n.*5341A>T) c.87A>T c.4490A>T (p.Lys1497Met) | |
| 1 | g.15930731G>A | CA18278226 | SPEN | c.*5342G>A (n.*5342G>A) c.88G>A c.4491G>A (p.Lys1497=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.15930731G>C | CA338615017 | SPEN | c.*5342G>C (n.*5342G>C) c.88G>C c.4491G>C (p.Lys1497Asn) | |
| 1 | g.15930731G= | CA1155574371 | SPEN | c.*5342G= (n.*5342G=) c.88G= c.4491G= (p.Lys1497=) | |
| 1 | g.15930731G>T | CA338615020 | SPEN | c.*5342G>T (n.*5342G>T) c.88G>T c.4491G>T (p.Lys1497Asn) | |
| 1 | g.15930732A>C | CA338615030 | SPEN | c.*5343A>C (n.*5343A>C) c.89A>C c.4492A>C (p.Lys1498Gln) | |
| 1 | g.15930732A>G | CA338615031 | SPEN | c.*5343A>G (n.*5343A>G) c.89A>G c.4492A>G (p.Lys1498Glu) | |
| 1 | g.15930732A>T | CA338615026 | SPEN | c.*5343A>T (n.*5343A>T) c.89A>T c.4492A>T (p.Lys1498Ter) | |
| 1 | g.15930732_15930733insCAATCGAGAACTTTCATATAATGC | CA2518328838 | SPEN | c.*5343_*5344insCAATCGAGAACTTTCATATAATGC (n.*5343_*5344insCAATCGAGAACTTTCATATAATGC) c.89_90insCAATCGAGAACTTTCATATAATGC c.4492_4493insCAATCGAGAACTTTCATATAATGC (p.Lys1498delinsThrIleGluAsnPheHisIleMetGln) | |
| 1 | g.15930733A>C | CA338615032 | SPEN | c.*5344A>C (n.*5344A>C) c.90A>C c.4493A>C (p.Lys1498Thr) | |
| 1 | g.15930733A>G | CA338615033 | SPEN | c.*5344A>G (n.*5344A>G) c.90A>G c.4493A>G (p.Lys1498Arg) | |
| 1 | g.15930733A>T | CA338615035 | SPEN | c.*5344A>T (n.*5344A>T) c.90A>T c.4493A>T (p.Lys1498Met) | |
| 1 | g.15930734G>A | CA416380245 | SPEN | c.*5345G>A (n.*5345G>A) c.91G>A c.4494G>A (p.Lys1498=) | gnomAD v4 |
| 1 | g.15930734G>C | CA338615038 | SPEN | c.*5345G>C (n.*5345G>C) c.91G>C c.4494G>C (p.Lys1498Asn) | |
| 1 | g.15930734G>T | CA338615041 | SPEN | c.*5345G>T (n.*5345G>T) c.91G>T c.4494G>T (p.Lys1498Asn) | |
| 1 | g.15930735A>C | CA338615044 | SPEN | c.*5346A>C (n.*5346A>C) c.92A>C c.4495A>C (p.Lys1499Gln) | |
| 1 | g.15930735A>G | CA338615042 | SPEN | c.*5346A>G (n.*5346A>G) c.92A>G c.4495A>G (p.Lys1499Glu) | |
| 1 | g.15930735A>T | CA338615043 | SPEN | c.*5346A>T (n.*5346A>T) c.92A>T c.4495A>T (p.Lys1499Ter) | |
| 1 | g.15930736A>C | CA338615047 | SPEN | c.*5347A>C (n.*5347A>C) c.93A>C c.4496A>C (p.Lys1499Thr) | |
| 1 | g.15930736A>G | CA338615051 | SPEN | c.*5347A>G (n.*5347A>G) c.93A>G c.4496A>G (p.Lys1499Arg) | |
| 1 | g.15930736A>T | CA338615054 | SPEN | c.*5347A>T (n.*5347A>T) c.93A>T c.4496A>T (p.Lys1499Ile) | gnomAD v4 |
| 1 | g.15930737A>C | CA338615064 | SPEN | c.*5348A>C (n.*5348A>C) c.94A>C c.4497A>C (p.Lys1499Asn) | |
| 1 | g.15930737A>G | CA416380250 | SPEN | c.*5348A>G (n.*5348A>G) c.94A>G c.4497A>G (p.Lys1499=) | gnomAD v4 |
| 1 | g.15930737A>T | CA338615066 | SPEN | c.*5348A>T (n.*5348A>T) c.94A>T c.4497A>T (p.Lys1499Asn) | |
| 1 | g.15930738A>C | CA338615076 | SPEN | c.*5349A>C (n.*5349A>C) c.95A>C c.4498A>C (p.Ile1500Leu) | |
| 1 | g.15930738A>G | CA338615071 | SPEN | c.*5349A>G (n.*5349A>G) c.95A>G c.4498A>G (p.Ile1500Val) | |
| 1 | g.15930738A>T | CA338615068 | SPEN | c.*5349A>T (n.*5349A>T) c.95A>T c.4498A>T (p.Ile1500Phe) | |
| 1 | g.15930739T>A | CA338615100 | SPEN | c.*5350T>A (n.*5350T>A) c.96T>A c.4499T>A (p.Ile1500Asn) | |
| 1 | g.15930739T>C | CA338615102 | SPEN | c.*5350T>C (n.*5350T>C) c.96T>C c.4499T>C (p.Ile1500Thr) | |
| 1 | g.15930739T>G | CA338615104 | SPEN | c.*5350T>G (n.*5350T>G) c.96T>G c.4499T>G (p.Ile1500Ser) | |
| 1 | g.15930740T>A | CA416380253 | SPEN | c.*5351T>A (n.*5351T>A) c.97T>A c.4500T>A (p.Ile1500=) | |
| 1 | g.15930740T>C | CA619585 | SPEN | c.*5351T>C (n.*5351T>C) c.97T>C c.4500T>C (p.Ile1500=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.15930740T>G | CA338615123 | SPEN | c.*5351T>G (n.*5351T>G) c.97T>G c.4500T>G (p.Ile1500Met) | gnomAD v4 |
| 1 | g.15930740T= | CA1144779577 | SPEN | c.*5351T= (n.*5351T=) c.97T= c.4500T= (p.Ile1500=) | |
| 1 | g.15930741A>C | CA416380254 | SPEN | c.*5352A>C (n.*5352A>C) c.98A>C c.4501A>C (p.Arg1501=) | |
| 1 | g.15930741A>G | CA338615128 | SPEN | c.*5352A>G (n.*5352A>G) c.98A>G c.4501A>G (p.Arg1501Gly) | |
| 1 | g.15930741A>T | CA338615130 | SPEN | c.*5352A>T (n.*5352A>T) c.98A>T c.4501A>T (p.Arg1501Trp) | |
| 1 | g.15930742G>A | CA338615152 | SPEN | c.*5353G>A (n.*5353G>A) c.99G>A c.4502G>A (p.Arg1501Lys) | |
| 1 | g.15930742G>C | CA338615137 | SPEN | c.*5353G>C (n.*5353G>C) c.99G>C c.4502G>C (p.Arg1501Thr) | |
| 1 | g.15930742G>T | CA338615146 | SPEN | c.*5353G>T (n.*5353G>T) c.99G>T c.4502G>T (p.Arg1501Met) | |
| 1 | g.15930743G>A | CA416380258 | SPEN | c.*5354G>A (n.*5354G>A) c.100G>A c.4503G>A (p.Arg1501=) | |
| 1 | g.15930743G>C | CA338615158 | SPEN | c.*5354G>C (n.*5354G>C) c.100G>C c.4503G>C (p.Arg1501Ser) | |
| 1 | g.15930743G>T | CA338615160 | SPEN | c.*5354G>T (n.*5354G>T) c.100G>T c.4503G>T (p.Arg1501Ser) | |
| 1 | g.15930744A>C | CA338615167 | SPEN | c.*5355A>C (n.*5355A>C) c.101A>C c.4504A>C (p.Thr1502Pro) | |
| 1 | g.15930744A>G | CA338615168 | SPEN | c.*5355A>G (n.*5355A>G) c.101A>G c.4504A>G (p.Thr1502Ala) | |
| 1 | g.15930744A>T | CA338615169 | SPEN | c.*5355A>T (n.*5355A>T) c.101A>T c.4504A>T (p.Thr1502Ser) | |
| 1 | g.15930745C>A | CA338615170 | SPEN | c.*5356C>A (n.*5356C>A) c.102C>A c.4505C>A (p.Thr1502Asn) | |
| 1 | g.15930745C>G | CA338615174 | SPEN | c.*5356C>G (n.*5356C>G) c.102C>G c.4505C>G (p.Thr1502Ser) | |
| 1 | g.15930745C>T | CA338615171 | SPEN | c.*5356C>T (n.*5356C>T) c.102C>T c.4505C>T (p.Thr1502Ile) | |
| 1 | g.15930746T>A | CA416380262 | SPEN | c.*5357T>A (n.*5357T>A) c.103T>A c.4506T>A (p.Thr1502=) | |
| 1 | g.15930746T>C | CA416380263 | SPEN | c.*5357T>C (n.*5357T>C) c.103T>C c.4506T>C (p.Thr1502=) | |
| 1 | g.15930746T>G | CA416380264 | SPEN | c.*5357T>G (n.*5357T>G) c.103T>G c.4506T>G (p.Thr1502=) | |
| 1 | g.15930747G>A | CA338615178 | SPEN | c.*5358G>A (n.*5358G>A) c.104G>A c.4507G>A (p.Asp1503Asn) | |
| 1 | g.15930747G>C | CA338615182 | SPEN | c.*5358G>C (n.*5358G>C) c.104G>C c.4507G>C (p.Asp1503His) | |
| 1 | g.15930747G>T | CA338615184 | SPEN | c.*5358G>T (n.*5358G>T) c.104G>T c.4507G>T (p.Asp1503Tyr) | |
| 1 | g.15930748A>C | CA338615190 | SPEN | c.*5359A>C (n.*5359A>C) c.105A>C c.4508A>C (p.Asp1503Ala) | |
| 1 | g.15930748A>G | CA338615192 | SPEN | c.*5359A>G (n.*5359A>G) c.105A>G c.4508A>G (p.Asp1503Gly) | |
| 1 | g.15930748A>T | CA338615194 | SPEN | c.*5359A>T (n.*5359A>T) c.105A>T c.4508A>T (p.Asp1503Val) | |
| 1 | g.15930749T>A | CA338615196 | SPEN | c.*5360T>A (n.*5360T>A) c.106T>A c.4509T>A (p.Asp1503Glu) | |
| 1 | g.15930749T>C | CA416380265 | SPEN | c.*5360T>C (n.*5360T>C) c.106T>C c.4509T>C (p.Asp1503=) | |
| 1 | g.15930749T>G | CA338615199 | SPEN | c.*5360T>G (n.*5360T>G) c.106T>G c.4509T>G (p.Asp1503Glu) | |
| 1 | g.15930750T>A | CA338615203 | SPEN | c.*5361T>A (n.*5361T>A) c.107T>A c.4510T>A (p.Ser1504Thr) | |
| 1 | g.15930750T>C | CA338615206 | SPEN | c.*5361T>C (n.*5361T>C) c.107T>C c.4510T>C (p.Ser1504Pro) | |
| 1 | g.15930750T>G | CA338615210 | SPEN | c.*5361T>G (n.*5361T>G) c.107T>G c.4510T>G (p.Ser1504Ala) | |
| 1 | g.15930751C>A | CA338615225 | SPEN | c.*5362C>A (n.*5362C>A) c.108C>A c.4511C>A (p.Ser1504Ter) | |
| 1 | g.15930751C>G | CA338615232 | SPEN | c.*5362C>G (n.*5362C>G) c.108C>G c.4511C>G (p.Ser1504Ter) | |
| 1 | g.15930751C>T | CA338615229 | SPEN | c.*5362C>T (n.*5362C>T) c.108C>T c.4511C>T (p.Ser1504Leu) | |
| 1 | g.15930752A>C | CA416380272 | SPEN | c.*5363A>C (n.*5363A>C) c.109A>C c.4512A>C (p.Ser1504=) | |
| 1 | g.15930752A>G | CA416380270 | SPEN | c.*5363A>G (n.*5363A>G) c.109A>G c.4512A>G (p.Ser1504=) | |
| 1 | g.15930752A>T | CA416380271 | SPEN | c.*5363A>T (n.*5363A>T) c.109A>T c.4512A>T (p.Ser1504=) | |
| 1 | g.15930753G>A | CA338615237 | SPEN | c.*5364G>A (n.*5364G>A) c.110G>A c.4513G>A (p.Glu1505Lys) | |
| 1 | g.15930753G>C | CA338615242 | SPEN | c.*5364G>C (n.*5364G>C) c.110G>C c.4513G>C (p.Glu1505Gln) | |
| 1 | g.15930753G>T | CA338615246 | SPEN | c.*5364G>T (n.*5364G>T) c.110G>T c.4513G>T (p.Glu1505Ter) | |
| 1 | g.15930754A>C | CA338615251 | SPEN | c.*5365A>C (n.*5365A>C) c.111A>C c.4514A>C (p.Glu1505Ala) | |
| 1 | g.15930754A>G | CA338615255 | SPEN | c.*5365A>G (n.*5365A>G) c.111A>G c.4514A>G (p.Glu1505Gly) | |
| 1 | g.15930754A>T | CA338615256 | SPEN | c.*5365A>T (n.*5365A>T) c.111A>T c.4514A>T (p.Glu1505Val) | |
| 1 | g.15930755A>C | CA338615257 | SPEN | c.*5366A>C (n.*5366A>C) c.112A>C c.4515A>C (p.Glu1505Asp) | |
| 1 | g.15930755A>G | CA416380388 | SPEN | c.*5366A>G (n.*5366A>G) c.112A>G c.4515A>G (p.Glu1505=) | |
| 1 | g.15930755A>T | CA338615258 | SPEN | c.*5366A>T (n.*5366A>T) c.112A>T c.4515A>T (p.Glu1505Asp) | gnomAD v4 |
| 1 | g.15930756G>A | CA338615260 | SPEN | c.*5367G>A (n.*5367G>A) c.113G>A c.4516G>A (p.Gly1506Arg) | |
| 1 | g.15930756G>C | CA338615262 | SPEN | c.*5367G>C (n.*5367G>C) c.113G>C c.4516G>C (p.Gly1506Arg) | |
| 1 | g.15930756G>T | CA338615273 | SPEN | c.*5367G>T (n.*5367G>T) c.113G>T c.4516G>T (p.Gly1506Trp) | |
| 1 | g.15930757G>A | CA338615296 | SPEN | c.*5368G>A (n.*5368G>A) c.114G>A c.4517G>A (p.Gly1506Glu) | |
| 1 | g.15930757G>C | CA338615290 | SPEN | c.*5368G>C (n.*5368G>C) c.114G>C c.4517G>C (p.Gly1506Ala) | |
| 1 | g.15930757G>T | CA338615279 | SPEN | c.*5368G>T (n.*5368G>T) c.114G>T c.4517G>T (p.Gly1506Val) | |
| 1 | g.15930758G>A | CA619586 | SPEN | c.*5369G>A (n.*5369G>A) c.115G>A c.4518G>A (p.Gly1506=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.15930758G>C | CA416380394 | SPEN | c.*5369G>C (n.*5369G>C) c.115G>C c.4518G>C (p.Gly1506=) | |
| 1 | g.15930758G= | CA1155574381 | SPEN | c.*5369G= (n.*5369G=) c.115G= c.4518G= (p.Gly1506=) | |
| 1 | g.15930758G>T | CA416380393 | SPEN | c.*5369G>T (n.*5369G>T) c.115G>T c.4518G>T (p.Gly1506=) | |
| 1 | g.15930759A>C | CA338615310 | SPEN | c.*5370A>C (n.*5370A>C) c.116A>C c.4519A>C (p.Lys1507Gln) | |
| 1 | g.15930759A>G | CA338615320 | SPEN | c.*5370A>G (n.*5370A>G) c.116A>G c.4519A>G (p.Lys1507Glu) | |
| 1 | g.15930759A>T | CA338615323 | SPEN | c.*5370A>T (n.*5370A>T) c.116A>T c.4519A>T (p.Lys1507Ter) | |
| 1 | g.15930760A>C | CA338615328 | SPEN | c.*5371A>C (n.*5371A>C) c.117A>C c.4520A>C (p.Lys1507Thr) | |
| 1 | g.15930760A>G | CA338615332 | SPEN | c.*5371A>G (n.*5371A>G) c.117A>G c.4520A>G (p.Lys1507Arg) | |
| 1 | g.15930760A>T | CA338615336 | SPEN | c.*5371A>T (n.*5371A>T) c.117A>T c.4520A>T (p.Lys1507Ile) | |
| 1 | g.15930761A= | CA1140186341 | SPEN | c.*5372A= (n.*5372A=) c.118A= c.4521A= (p.Lys1507=) | |
| 1 | g.15930761A>C | CA338615337 | SPEN | c.*5372A>C (n.*5372A>C) c.118A>C c.4521A>C (p.Lys1507Asn) | |
| 1 | g.15930761A>G | CA619587 | SPEN | c.*5372A>G (n.*5372A>G) c.118A>G c.4521A>G (p.Lys1507=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.15930761A>T | CA338615338 | SPEN | c.*5372A>T (n.*5372A>T) c.118A>T c.4521A>T (p.Lys1507Asn) | |
| 1 | g.15930762A>C | CA338615340 | SPEN | c.*5373A>C (n.*5373A>C) c.119A>C c.4522A>C (p.Met1508Leu) | |
| 1 | g.15930762A>G | CA338615344 | SPEN | c.*5373A>G (n.*5373A>G) c.119A>G c.4522A>G (p.Met1508Val) | |
| 1 | g.15930762A>T | CA338615348 | SPEN | c.*5373A>T (n.*5373A>T) c.119A>T c.4522A>T (p.Met1508Leu) | |
| 1 | g.15930763T>A | CA338615371 | SPEN | c.*5374T>A (n.*5374T>A) c.120T>A c.4523T>A (p.Met1508Lys) | |
| 1 | g.15930763T>C | CA338615378 | SPEN | c.*5374T>C (n.*5374T>C) c.120T>C c.4523T>C (p.Met1508Thr) | |
| 1 | g.15930763T>G | CA338615367 | SPEN | c.*5374T>G (n.*5374T>G) c.120T>G c.4523T>G (p.Met1508Arg) | |
| 1 | g.15930764G>A | CA338615385 | SPEN | c.*5375G>A (n.*5375G>A) c.121G>A c.4524G>A (p.Met1508Ile) | |
| 1 | g.15930764G>C | CA338615384 | SPEN | c.*5375G>C (n.*5375G>C) c.121G>C c.4524G>C (p.Met1508Ile) | |
| 1 | g.15930764G= | CA1155574390 | SPEN | c.*5375G= (n.*5375G=) c.121G= c.4524G= (p.Met1508=) | |
| 1 | g.15930764G>T | CA18278231 | SPEN | c.*5375G>T (n.*5375G>T) c.121G>T c.4524G>T (p.Met1508Ile) | dbSNP gnomAD v4 |
| 1 | g.15930765G>A | CA338615386 | SPEN | c.*5376G>A (n.*5376G>A) c.122G>A c.4525G>A (p.Asp1509Asn) | COSMIC |
| 1 | g.15930765G>C | CA338615387 | SPEN | c.*5376G>C (n.*5376G>C) c.122G>C c.4525G>C (p.Asp1509His) | |
| 1 | g.15930765G>T | CA338615388 | SPEN | c.*5376G>T (n.*5376G>T) c.122G>T c.4525G>T (p.Asp1509Tyr) | |
| 1 | g.15930766A>C | CA338615389 | SPEN | c.*5377A>C (n.*5377A>C) c.123A>C c.4526A>C (p.Asp1509Ala) | |
| 1 | g.15930766A>G | CA338615390 | SPEN | c.*5377A>G (n.*5377A>G) c.123A>G c.4526A>G (p.Asp1509Gly) | |
| 1 | g.15930766A>T | CA338615391 | SPEN | c.*5377A>T (n.*5377A>T) c.123A>T c.4526A>T (p.Asp1509Val) | |
| 1 | g.15930767T>A | CA338615392 | SPEN | c.*5378T>A (n.*5378T>A) c.124T>A c.4527T>A (p.Asp1509Glu) | |
| 1 | g.15930767T>C | CA416380414 | SPEN | c.*5378T>C (n.*5378T>C) c.124T>C c.4527T>C (p.Asp1509=) | |
| 1 | g.15930767T>G | CA338615393 | SPEN | c.*5378T>G (n.*5378T>G) c.124T>G c.4527T>G (p.Asp1509Glu) | |
| 1 | g.15930768G>A | CA338615394 | SPEN | c.*5379G>A (n.*5379G>A) c.125G>A c.4528G>A (p.Asp1510Asn) | COSMIC |
| 1 | g.15930768G>C | CA338615395 | SPEN | c.*5379G>C (n.*5379G>C) c.125G>C c.4528G>C (p.Asp1510His) | |
| 1 | g.15930768G>T | CA338615398 | SPEN | c.*5379G>T (n.*5379G>T) c.125G>T c.4528G>T (p.Asp1510Tyr) | |
| 1 | g.15930769A= | CA1155574394 | SPEN | c.*5380A= (n.*5380A=) c.126A= c.4529A= (p.Asp1510=) | |
| 1 | g.15930769A>C | CA338615406 | SPEN | c.*5380A>C (n.*5380A>C) c.126A>C c.4529A>C (p.Asp1510Ala) | |
| 1 | g.15930769A>G | CA619588 | SPEN | c.*5380A>G (n.*5380A>G) c.126A>G c.4529A>G (p.Asp1510Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.15930769A>T | CA338615403 | SPEN | c.*5380A>T (n.*5380A>T) c.126A>T c.4529A>T (p.Asp1510Val) | gnomAD v4 |
| 1 | g.15930770T>A | CA338615422 | SPEN | c.*5381T>A (n.*5381T>A) c.127T>A c.4530T>A (p.Asp1510Glu) | gnomAD v4 |
| 1 | g.15930770T>C | CA416380425 | SPEN | c.*5381T>C (n.*5381T>C) c.127T>C c.4530T>C (p.Asp1510=) | |
| 1 | g.15930770T>G | CA338615425 | SPEN | c.*5381T>G (n.*5381T>G) c.127T>G c.4530T>G (p.Asp1510Glu) | |
| 1 | g.15930771A= | CA1155574403 | SPEN | c.*5382A= (n.*5382A=) c.128A= c.4531A= (p.Lys1511=) | |
| 1 | g.15930771A>C | CA338615435 | SPEN | c.*5382A>C (n.*5382A>C) c.128A>C c.4531A>C (p.Lys1511Gln) | |
| 1 | g.15930771A>G | CA338615436 | SPEN | c.*5382A>G (n.*5382A>G) c.128A>G c.4531A>G (p.Lys1511Glu) | dbSNP |
| 1 | g.15930771A>T | CA338615437 | SPEN | c.*5382A>T (n.*5382A>T) c.128A>T c.4531A>T (p.Lys1511Ter) | |
| 1 | g.15930772A>C | CA338615438 | SPEN | c.*5383A>C (n.*5383A>C) c.129A>C c.4532A>C (p.Lys1511Thr) | |
| 1 | g.15930772A>G | CA338615441 | SPEN | c.*5383A>G (n.*5383A>G) c.129A>G c.4532A>G (p.Lys1511Arg) | |
| 1 | g.15930772A>T | CA338615443 | SPEN | c.*5383A>T (n.*5383A>T) c.129A>T c.4532A>T (p.Lys1511Met) | |
| 1 | g.15930773G>A | CA416380433 | SPEN | c.*5384G>A (n.*5384G>A) c.130G>A c.4533G>A (p.Lys1511=) | COSMIC |
| 1 | g.15930773G>C | CA338615448 | SPEN | c.*5384G>C (n.*5384G>C) c.130G>C c.4533G>C (p.Lys1511Asn) | |
| 1 | g.15930773G= | CA1155574426 | SPEN | c.*5384G= (n.*5384G=) c.130G= c.4533G= (p.Lys1511=) | |
| 1 | g.15930773G>T | CA619589 | SPEN | c.*5384G>T (n.*5384G>T) c.130G>T c.4533G>T (p.Lys1511Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.15930774A>C | CA338615457 | SPEN | c.*5385A>C (n.*5385A>C) c.131A>C c.4534A>C (p.Lys1512Gln) | |
| 1 | g.15930774A>G | CA338615459 | SPEN | c.*5385A>G (n.*5385A>G) c.131A>G c.4534A>G (p.Lys1512Glu) | |
| 1 | g.15930774A>T | CA338615462 | SPEN | c.*5385A>T (n.*5385A>T) c.131A>T c.4534A>T (p.Lys1512Ter) | |
| 1 | g.15930775A>C | CA338615469 | SPEN | c.*5386A>C (n.*5386A>C) c.132A>C c.4535A>C (p.Lys1512Thr) | |
| 1 | g.15930775A>G | CA338615470 | SPEN | c.*5386A>G (n.*5386A>G) c.132A>G c.4535A>G (p.Lys1512Arg) | |
| 1 | g.15930775A>T | CA338615465 | SPEN | c.*5386A>T (n.*5386A>T) c.132A>T c.4535A>T (p.Lys1512Ile) | |
| 1 | g.15930776A= | CA1155574429 | SPEN | c.*5387A= (n.*5387A=) c.133A= c.4536A= (p.Lys1512=) | |
| 1 | g.15930776A>C | CA338615473 | SPEN | c.*5387A>C (n.*5387A>C) c.133A>C c.4536A>C (p.Lys1512Asn) | |
| 1 | g.15930776A>G | CA416380439 | SPEN | c.*5387A>G (n.*5387A>G) c.133A>G c.4536A>G (p.Lys1512=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.15930776A>T | CA338615475 | SPEN | c.*5387A>T (n.*5387A>T) c.133A>T c.4536A>T (p.Lys1512Asn) | |
| 1 | g.15930777G>A | CA338615484 | SPEN | c.*5388G>A (n.*5388G>A) c.134G>A c.4537G>A (p.Glu1513Lys) | |
| 1 | g.15930777G>C | CA338615487 | SPEN | c.*5388G>C (n.*5388G>C) c.134G>C c.4537G>C (p.Glu1513Gln) | |
| 1 | g.15930777G>T | CA338615488 | SPEN | c.*5388G>T (n.*5388G>T) c.134G>T c.4537G>T (p.Glu1513Ter) |