Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.7579695T>A	CA362684216	DSP	c.3505T>A (p.Tyr1169Asn)	ClinVar dbSNP gnomAD v4
6	g.7579695T>C	CA362684217	DSP	c.3505T>C (p.Tyr1169His)
6	g.7579695T>G	CA362684218	DSP	c.3505T>G (p.Tyr1169Asp)	gnomAD v4
6	g.7579696A=	CA1608614516	DSP	c.3506A= (p.Tyr1169=)
6	g.7579696A>C	CA362684219	DSP	c.3506A>C (p.Tyr1169Ser)
6	g.7579696A>G	CA362684220	DSP	c.3506A>G (p.Tyr1169Cys)	dbSNP gnomAD v2 gnomAD v4
6	g.7579696A>T	CA362684221	DSP	c.3506A>T (p.Tyr1169Phe)
6	g.7579697C>A	CA10576698	DSP	c.3507C>A (p.Tyr1169Ter)	ClinVar dbSNP gnomAD v4
6	g.7579697C=	CA1608614546	DSP	c.3507C= (p.Tyr1169=)
6	g.7579697C>G	CA362684222	DSP	c.3507C>G (p.Tyr1169Ter)
6	g.7579697C>T	CA005818	DSP	c.3507C>T (p.Tyr1169=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.7579698G>A	CA133968478	DSP	c.3508G>A (p.Glu1170Lys)	ClinVar dbSNP gnomAD v4 COSMIC
6	g.7579698G>C	CA362684223	DSP	c.3508G>C (p.Glu1170Gln)	ClinVar
6	g.7579698G=	CA1608614552	DSP	c.3508G= (p.Glu1170=)
6	g.7579698G>T	CA362684224	DSP	c.3508G>T (p.Glu1170Ter)
6	g.7579699A>C	CA362684225	DSP	c.3509A>C (p.Glu1170Ala)
6	g.7579699A>G	CA362684226	DSP	c.3509A>G (p.Glu1170Gly)	COSMIC
6	g.7579699A>T	CA362684227	DSP	c.3509A>T (p.Glu1170Val)
6	g.7579700G>A	CA005826	DSP	c.3510G>A (p.Glu1170=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.7579700G>C	CA362684228	DSP	c.3510G>C (p.Glu1170Asp)
6	g.7579700G=	CA1608614558	DSP	c.3510G= (p.Glu1170=)
6	g.7579700G>T	CA362684229	DSP	c.3510G>T (p.Glu1170Asp)
6	g.7579701A>C	CA362684230	DSP	c.3511A>C (p.Ile1171Leu)
6	g.7579701A>G	CA362684231	DSP	c.3511A>G (p.Ile1171Val)
6	g.7579701A>T	CA362684232	DSP	c.3511A>T (p.Ile1171Phe)
6	g.7579702T>A	CA362684234	DSP	c.3512T>A (p.Ile1171Asn)
6	g.7579702T>C	CA038290	DSP	c.3512T>C (p.Ile1171Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.7579702T>G	CA362684233	DSP	c.3512T>G (p.Ile1171Ser)
6	g.7579702T=	CA1608614563	DSP	c.3512T= (p.Ile1171=)
6	g.7579703T>A	CA448714195	DSP	c.3513T>A (p.Ile1171=)	dbSNP
6	g.7579703T>C	CA448714196	DSP	c.3513T>C (p.Ile1171=)
6	g.7579703T>G	CA362684235	DSP	c.3513T>G (p.Ile1171Met)	ClinVar
6	g.7579703T=	CA1608614568	DSP	c.3513T= (p.Ile1171=)
6	g.7579704G>A	CA362684236	DSP	c.3514G>A (p.Glu1172Lys)	COSMIC
6	g.7579704G>C	CA362684238	DSP	c.3514G>C (p.Glu1172Gln)
6	g.7579704G>T	CA362684237	DSP	c.3514G>T (p.Glu1172Ter)
6	g.7579705A>C	CA362684239	DSP	c.3515A>C (p.Glu1172Ala)
6	g.7579705A>G	CA362684241	DSP	c.3515A>G (p.Glu1172Gly)
6	g.7579705A>T	CA362684240	DSP	c.3515A>T (p.Glu1172Val)
6	g.7579707del	CA2580614831	DSP	c.3517del (p.Arg1173GlyfsTer2)	ClinVar
6	g.7579706A=	CA1608614572	DSP	c.3516A= (p.Glu1172=)
6	g.7579706A>C	CA362684242	DSP	c.3516A>C (p.Glu1172Asp)
6	g.7579706A>G	CA448714198	DSP	c.3516A>G (p.Glu1172=)	dbSNP
6	g.7579706A>T	CA362684243	DSP	c.3516A>T (p.Glu1172Asp)
6	g.7579707A>C	CA448714199	DSP	c.3517A>C (p.Arg1173=)
6	g.7579707A>G	CA362684244	DSP	c.3517A>G (p.Arg1173Gly)
6	g.7579707A>T	CA362684245	DSP	c.3517A>T (p.Arg1173Trp)
6	g.7579708G>A	CA362684246	DSP	c.3518G>A (p.Arg1173Lys)
6	g.7579708G>C	CA362684247	DSP	c.3518G>C (p.Arg1173Thr)
6	g.7579708G>T	CA362684248	DSP	c.3518G>T (p.Arg1173Met)	ClinVar
6	g.7579709G>A	CA448714201	DSP	c.3519G>A (p.Arg1173=)	ClinVar gnomAD v4
6	g.7579709G>C	CA362684249	DSP	c.3519G>C (p.Arg1173Ser)	gnomAD v4
6	g.7579709G>T	CA362684250	DSP	c.3519G>T (p.Arg1173Ser)	dbSNP gnomAD v3 gnomAD v4
6	g.7579710T>A	CA362684251	DSP	c.3520T>A (p.Leu1174Met)
6	g.7579710T>C	CA448714202	DSP	c.3520T>C (p.Leu1174=)	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.7579710T>G	CA362684252	DSP	c.3520T>G (p.Leu1174Val)
6	g.7579710T=	CA1608614575	DSP	c.3520T= (p.Leu1174=)
6	g.7579711T>A	CA362684255	DSP	c.3521T>A (p.Leu1174Ter)
6	g.7579711T>C	CA362684253	DSP	c.3521T>C (p.Leu1174Ser)	ClinVar
6	g.7579711T>G	CA362684254	DSP	c.3521T>G (p.Leu1174Trp)	gnomAD v3 gnomAD v4
6	g.7579712G>A	CA448714216	DSP	c.3522G>A (p.Leu1174=)	ClinVar gnomAD v4
6	g.7579712G>C	CA362684256	DSP	c.3522G>C (p.Leu1174Phe)
6	g.7579712G=	CA1608614582	DSP	c.3522G= (p.Leu1174=)
6	g.7579712G>T	CA362684257	DSP	c.3522G>T (p.Leu1174Phe)
6	g.7579712_7579713insGTCAT	CA1608614585	DSP	c.3522_3523insGTCAT (p.Arg1175ValfsTer23) c.3522_3523insGTCAT (p.Arg1175ValfsTer?)	dbSNP
6	g.7579713A>C	CA448714217	DSP	c.3523A>C (p.Arg1175=)
6	g.7579713A>G	CA362684258	DSP	c.3523A>G (p.Arg1175Gly)
6	g.7579713A>T	CA362684259	DSP	c.3523A>T (p.Arg1175Trp)
6	g.7579713_7579714delinsAG	CA1608614587	DSP	c.3523_3524delinsAG (p.Arg1175=)
6	g.7579714G>A	CA362684260	DSP	c.3524G>A (p.Arg1175Lys)	ClinVar dbSNP gnomAD v4 COSMIC
6	g.7579714G>C	CA362684261	DSP	c.3524G>C (p.Arg1175Thr)	gnomAD v4
6	g.7579714G=	CA1608614592	DSP	c.3524G= (p.Arg1175=)
6	g.7579714G>T	CA362684262	DSP	c.3524G>T (p.Arg1175Met)
6	g.7579716del	CA005835	DSP	c.3526del (p.Val1176PhefsTer20) c.3526del (p.Val1176PhefsTer?)	ClinVar dbSNP
6	g.7579715G>A	CA448714219	DSP	c.3525G>A (p.Arg1175=)	dbSNP
6	g.7579715G>C	CA362684263	DSP	c.3525G>C (p.Arg1175Ser)
6	g.7579715G=	CA1608614593	DSP	c.3525G= (p.Arg1175=)
6	g.7579715G>T	CA362684264	DSP	c.3525G>T (p.Arg1175Ser)
6	g.7579715_7579717dup	CA2677226185	DSP	c.3525_3527dup (p.Val1176_Leu1177insVal)	gnomAD v4
6	g.7579716G>A	CA362684266	DSP	c.3526G>A (p.Val1176Ile)	ClinVar gnomAD v4
6	g.7579716G>C	CA362684267	DSP	c.3526G>C (p.Val1176Leu)
6	g.7579716G=	CA1608614594	DSP	c.3526G= (p.Val1176=)
6	g.7579716G>T	CA362684265	DSP	c.3526G>T (p.Val1176Phe)	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.7579717T>A	CA362684268	DSP	c.3527T>A (p.Val1176Asp)
6	g.7579717T>C	CA362684269	DSP	c.3527T>C (p.Val1176Ala)	ClinVar dbSNP
6	g.7579717T>G	CA362684270	DSP	c.3527T>G (p.Val1176Gly)
6	g.7579717T=	CA1608614596	DSP	c.3527T= (p.Val1176=)
6	g.7579718T>A	CA448714223	DSP	c.3528T>A (p.Val1176=)
6	g.7579718T>C	CA448714221	DSP	c.3528T>C (p.Val1176=)
6	g.7579718T>G	CA448714222	DSP	c.3528T>G (p.Val1176=)
6	g.7579719del	CA2740094257	DSP	c.3529del (p.Leu1177TyrfsTer19) c.3529del (p.Leu1177TyrfsTer?)	ClinVar
6	g.7579719C>A	CA362684271	DSP	c.3529C>A (p.Leu1177Ile)	ClinVar
6	g.7579719C>G	CA362684272	DSP	c.3529C>G (p.Leu1177Val)
6	g.7579719C>T	CA448714225	DSP	c.3529C>T (p.Leu1177=)
6	g.7579720T>A	CA038306	DSP	c.3530T>A (p.Leu1177Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.7579720T>C	CA362684273	DSP	c.3530T>C (p.Leu1177Pro)
6	g.7579720T>G	CA362684274	DSP	c.3530T>G (p.Leu1177Arg)
6	g.7579720T=	CA1608614599	DSP	c.3530T= (p.Leu1177=)
6	g.7579721A>C	CA448714226	DSP	c.3531A>C (p.Leu1177=)
6	g.7579721A>G	CA448714228	DSP	c.3531A>G (p.Leu1177=)	ClinVar
6	g.7579721A>T	CA448714227	DSP	c.3531A>T (p.Leu1177=)	gnomAD v4
6	g.7579722C>A	CA362684275	DSP	c.3532C>A (p.Leu1178Met)
6	g.7579722C=	CA1608614608	DSP	c.3532C= (p.Leu1178=)
6	g.7579722C>G	CA362684276	DSP	c.3532C>G (p.Leu1178Val)	dbSNP gnomAD v3 gnomAD v4
6	g.7579722C>T	CA448714232	DSP	c.3532C>T (p.Leu1178=)	ClinVar dbSNP gnomAD v4
6	g.7579723T>A	CA362684277	DSP	c.3533T>A (p.Leu1178Gln)
6	g.7579723T>C	CA362684278	DSP	c.3533T>C (p.Leu1178Pro)
6	g.7579723T>G	CA362684279	DSP	c.3533T>G (p.Leu1178Arg)
6	g.7579724G>A	CA448714272	DSP	c.3534G>A (p.Leu1178=)
6	g.7579724G>C	CA448714273	DSP	c.3534G>C (p.Leu1178=)
6	g.7579724G>T	CA448714274	DSP	c.3534G>T (p.Leu1178=)
6	g.7579725C>A	CA362684280	DSP	c.3535C>A (p.Gln1179Lys)
6	g.7579725C=	CA1608614628	DSP	c.3535C= (p.Gln1179=)
6	g.7579725C>G	CA362684282	DSP	c.3535C>G (p.Gln1179Glu)
6	g.7579725C>T	CA362684281	DSP	c.3535C>T (p.Gln1179Ter)	ClinVar dbSNP
6	g.7579726A=	CA1608614638	DSP	c.3536A= (p.Gln1179=)
6	g.7579726A>C	CA362684283	DSP	c.3536A>C (p.Gln1179Pro)
6	g.7579726A>G	CA362684284	DSP	c.3536A>G (p.Gln1179Arg)	ClinVar dbSNP
6	g.7579726A>T	CA362684285	DSP	c.3536A>T (p.Gln1179Leu)
6	g.7579727G>A	CA448714275	DSP	c.3537G>A (p.Gln1179=)	dbSNP gnomAD v4
6	g.7579727G>C	CA362684286	DSP	c.3537G>C (p.Gln1179His)
6	g.7579727G=	CA1608614640	DSP	c.3537G= (p.Gln1179=)
6	g.7579727G>T	CA362684287	DSP	c.3537G>T (p.Gln1179His)
6	g.7579728G>A	CA362684288	DSP	c.3538G>A (p.Glu1180Lys)	ClinVar
6	g.7579728G>C	CA362684289	DSP	c.3538G>C (p.Glu1180Gln)
6	g.7579728G>T	CA362684290	DSP	c.3538G>T (p.Glu1180Ter)
6	g.7579729A>C	CA362684291	DSP	c.3539A>C (p.Glu1180Ala)
6	g.7579729A>G	CA362684292	DSP	c.3539A>G (p.Glu1180Gly)
6	g.7579729A>T	CA362684293	DSP	c.3539A>T (p.Glu1180Val)
6	g.7579730A=	CA1608614645	DSP	c.3540A= (p.Glu1180=)
6	g.7579730A>C	CA362684295	DSP	c.3540A>C (p.Glu1180Asp)	dbSNP gnomAD v2 gnomAD v4
6	g.7579730A>G	CA038348	DSP	c.3540A>G (p.Glu1180=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.7579730A>T	CA362684294	DSP	c.3540A>T (p.Glu1180Asp)
6	g.7579731G>A	CA362684298	DSP	c.3541G>A (p.Glu1181Lys)	gnomAD v4
6	g.7579731G>C	CA362684296	DSP	c.3541G>C (p.Glu1181Gln)
6	g.7579731G>T	CA362684297	DSP	c.3541G>T (p.Glu1181Ter)	ClinVar
6	g.7579732A>C	CA362684299	DSP	c.3542A>C (p.Glu1181Ala)
6	g.7579732A>G	CA362684300	DSP	c.3542A>G (p.Glu1181Gly)
6	g.7579732A>T	CA362684301	DSP	c.3542A>T (p.Glu1181Val)
6	g.7579733A=	CA1608614647	DSP	c.3543A= (p.Glu1181=)
6	g.7579733A>C	CA362684302	DSP	c.3543A>C (p.Glu1181Asp)
6	g.7579733A>G	CA448714276	DSP	c.3543A>G (p.Glu1181=)	dbSNP
6	g.7579733A>T	CA362684303	DSP	c.3543A>T (p.Glu1181Asp)
6	g.7579734G>A	CA362684304	DSP	c.3544G>A (p.Gly1182Ser)	dbSNP
6	g.7579734G>C	CA362684305	DSP	c.3544G>C (p.Gly1182Arg)	ClinVar dbSNP
6	g.7579734G=	CA1608614652	DSP	c.3544G= (p.Gly1182=)
6	g.7579734G>T	CA362684306	DSP	c.3544G>T (p.Gly1182Cys)
6	g.7579735G>A	CA362684307	DSP	c.3545G>A (p.Gly1182Asp)	gnomAD v4
6	g.7579735G>C	CA362684308	DSP	c.3545G>C (p.Gly1182Ala)
6	g.7579735G>T	CA362684309	DSP	c.3545G>T (p.Gly1182Val)
6	g.7579736C>A	CA448714277	DSP	c.3546C>A (p.Gly1182=)	ClinVar dbSNP gnomAD v4
6	g.7579736C=	CA1608614657	DSP	c.3546C= (p.Gly1182=)
6	g.7579736C>G	CA448714278	DSP	c.3546C>G (p.Gly1182=)
6	g.7579736C>T	CA448714279	DSP	c.3546C>T (p.Gly1182=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.7579737A=	CA1608614666	DSP	c.3547A= (p.Thr1183=)
6	g.7579737A>C	CA362684310	DSP	c.3547A>C (p.Thr1183Pro)
6	g.7579737A>G	CA362684312	DSP	c.3547A>G (p.Thr1183Ala)	dbSNP gnomAD v4
6	g.7579737A>T	CA362684311	DSP	c.3547A>T (p.Thr1183Ser)
6	g.7579738C>A	CA362684313	DSP	c.3548C>A (p.Thr1183Asn)
6	g.7579738C=	CA1608614673	DSP	c.3548C= (p.Thr1183=)
6	g.7579738C>G	CA362684314	DSP	c.3548C>G (p.Thr1183Ser)
6	g.7579738C>T	CA362684315	DSP	c.3548C>T (p.Thr1183Ile)	ClinVar dbSNP gnomAD v2
6	g.7579739C>A	CA448714280	DSP	c.3549C>A (p.Thr1183=)
6	g.7579739C>G	CA448714281	DSP	c.3549C>G (p.Thr1183=)
6	g.7579739C>T	CA448714282	DSP	c.3549C>T (p.Thr1183=)	gnomAD v4
6	g.7579740C>A	CA448714283	DSP	c.3550C>A (p.Arg1184=)
6	g.7579740C=	CA1608614677	DSP	c.3550C= (p.Arg1184=)
6	g.7579740C>G	CA362684316	DSP	c.3550C>G (p.Arg1184Gly)
6	g.7579740C>T	CA038373	DSP	c.3550C>T (p.Arg1184Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.7579741G>A	CA038386	DSP	c.3551G>A (p.Arg1184Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6	g.7579741G>C	CA362684317	DSP	c.3551G>C (p.Arg1184Pro)
6	g.7579741G=	CA1608614688	DSP	c.3551G= (p.Arg1184=)
6	g.7579741G>T	CA362684318	DSP	c.3551G>T (p.Arg1184Leu)
6	g.7579742G>A	CA448714284	DSP	c.3552G>A (p.Arg1184=)
6	g.7579742G>C	CA448714285	DSP	c.3552G>C (p.Arg1184=)
6	g.7579742G>T	CA448714286	DSP	c.3552G>T (p.Arg1184=)
6	g.7579743A>C	CA362684319	DSP	c.3553A>C (p.Lys1185Gln)
6	g.7579743A>G	CA362684320	DSP	c.3553A>G (p.Lys1185Glu)
6	g.7579743A>T	CA362684321	DSP	c.3553A>T (p.Lys1185Ter)
6	g.7579744A=	CA1608614696	DSP	c.3554A= (p.Lys1185=)
6	g.7579744A>C	CA362684323	DSP	c.3554A>C (p.Lys1185Thr)
6	g.7579744A>G	CA362684324	DSP	c.3554A>G (p.Lys1185Arg)	dbSNP gnomAD v3 gnomAD v4
6	g.7579744A>T	CA362684322	DSP	c.3554A>T (p.Lys1185Met)
6	g.7579745G>A	CA448714287	DSP	c.3555G>A (p.Lys1185=)	ClinVar dbSNP gnomAD v2 gnomAD v4
6	g.7579745G>C	CA362684325	DSP	c.3555G>C (p.Lys1185Asn)	ClinVar dbSNP gnomAD v4
6	g.7579745G=	CA1608614702	DSP	c.3555G= (p.Lys1185=)
6	g.7579745G>T	CA362684326	DSP	c.3555G>T (p.Lys1185Asn)
6	g.7579746A>C	CA448714288	DSP	c.3556A>C (p.Arg1186=)
6	g.7579746A>G	CA362684327	DSP	c.3556A>G (p.Arg1186Gly)
6	g.7579746A>T	CA362684328	DSP	c.3556A>T (p.Arg1186Ter)
6	g.7579747G>A	CA362684329	DSP	c.3557G>A (p.Arg1186Lys)	ClinVar dbSNP gnomAD v2 gnomAD v4
6	g.7579747G>C	CA362684330	DSP	c.3557G>C (p.Arg1186Thr)	dbSNP gnomAD v4
6	g.7579747G=	CA1608614709	DSP	c.3557G= (p.Arg1186=)
6	g.7579747G>T	CA362684331	DSP	c.3557G>T (p.Arg1186Ile)
6	g.7579748A=	CA1608614716	DSP	c.3558A= (p.Arg1186=)
6	g.7579748A>C	CA362684332	DSP	c.3558A>C (p.Arg1186Ser)
6	g.7579748A>G	CA038395	DSP	c.3558A>G (p.Arg1186=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6	g.7579748A>T	CA362684333	DSP	c.3558A>T (p.Arg1186Ser)	gnomAD v4
6	g.7579749G>A	CA362684334	DSP	c.3559G>A (p.Glu1187Lys)	ClinVar dbSNP
6	g.7579749G>C	CA362684335	DSP	c.3559G>C (p.Glu1187Gln)
6	g.7579749G=	CA1608614726	DSP	c.3559G= (p.Glu1187=)
6	g.7579749G>T	CA362684336	DSP	c.3559G>T (p.Glu1187Ter)	dbSNP gnomAD v3 gnomAD v4
6	g.7579750A>C	CA362684339	DSP	c.3560A>C (p.Glu1187Ala)
6	g.7579750A>G	CA362684338	DSP	c.3560A>G (p.Glu1187Gly)
6	g.7579750A>T	CA362684337	DSP	c.3560A>T (p.Glu1187Val)	gnomAD v4
6	g.7579751A=	CA1608614730	DSP	c.3561A= (p.Glu1187=)
6	g.7579751A>C	CA362684340	DSP	c.3561A>C (p.Glu1187Asp)
6	g.7579751A>G	CA448714289	DSP	c.3561A>G (p.Glu1187=)	dbSNP gnomAD v3 gnomAD v4
6	g.7579751A>T	CA362684341	DSP	c.3561A>T (p.Glu1187Asp)
6	g.7579752T>A	CA362684342	DSP	c.3562T>A (p.Tyr1188Asn)
6	g.7579752T>C	CA005843	DSP	c.3562T>C (p.Tyr1188His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.7579752T>G	CA362684343	DSP	c.3562T>G (p.Tyr1188Asp)
6	g.7579752T=	CA1608614735	DSP	c.3562T= (p.Tyr1188=)
6	g.7579753A>C	CA362684344	DSP	c.3563A>C (p.Tyr1188Ser)
6	g.7579753A>G	CA362684345	DSP	c.3563A>G (p.Tyr1188Cys)	ClinVar
6	g.7579753A>T	CA362684346	DSP	c.3563A>T (p.Tyr1188Phe)
6	g.7579754T>A	CA362684347	DSP	c.3564T>A (p.Tyr1188Ter)	ClinVar dbSNP
6	g.7579754T>C	CA448714290	DSP	c.3564T>C (p.Tyr1188=)	ClinVar dbSNP
6	g.7579754T>G	CA362684348	DSP	c.3564T>G (p.Tyr1188Ter)
6	g.7579755G>A	CA133968511	DSP	c.3565G>A (p.Glu1189Lys)	ClinVar dbSNP gnomAD v4 COSMIC
6	g.7579755G>C	CA362684349	DSP	c.3565G>C (p.Glu1189Gln)
6	g.7579755G=	CA1608614746	DSP	c.3565G= (p.Glu1189=)
6	g.7579755G>T	CA362684350	DSP	c.3565G>T (p.Glu1189Ter)
6	g.7579756A>C	CA362684353	DSP	c.3566A>C (p.Glu1189Ala)
6	g.7579756A>G	CA362684352	DSP	c.3566A>G (p.Glu1189Gly)
6	g.7579756A>T	CA362684351	DSP	c.3566A>T (p.Glu1189Val)
6	g.7579757A=	CA1608614753	DSP	c.3567A= (p.Glu1189=)
6	g.7579757A>C	CA362684354	DSP	c.3567A>C (p.Glu1189Asp)
6	g.7579757A>G	CA038417	DSP	c.3567A>G (p.Glu1189=)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.7579757A>T	CA362684355	DSP	c.3567A>T (p.Glu1189Asp)
6	g.7579758A>C	CA362684356	DSP	c.3568A>C (p.Asn1190His)
6	g.7579758A>G	CA362684357	DSP	c.3568A>G (p.Asn1190Asp)
6	g.7579758A>T	CA362684358	DSP	c.3568A>T (p.Asn1190Tyr)
6	g.7579759A>C	CA362684361	DSP	c.3569A>C (p.Asn1190Thr)
6	g.7579759A>G	CA362684359	DSP	c.3569A>G (p.Asn1190Ser)
6	g.7579759A>T	CA362684360	DSP	c.3569A>T (p.Asn1190Ile)
6	g.7579760T>A	CA362684362	DSP	c.3570T>A (p.Asn1190Lys)
6	g.7579760T>C	CA448714291	DSP	c.3570T>C (p.Asn1190=)
6	g.7579760T>G	CA362684363	DSP	c.3570T>G (p.Asn1190Lys)
6	g.7579761G>A	CA362684364	DSP	c.3571G>A (p.Glu1191Lys)
6	g.7579761G>C	CA362684365	DSP	c.3571G>C (p.Glu1191Gln)
6	g.7579761G=	CA1608614759	DSP	c.3571G= (p.Glu1191=)
6	g.7579761G>T	CA362684366	DSP	c.3571G>T (p.Glu1191Ter)	ClinVar dbSNP
6	g.7579762A>C	CA362684369	DSP	c.3572A>C (p.Glu1191Ala)
6	g.7579762A>G	CA362684367	DSP	c.3572A>G (p.Glu1191Gly)
6	g.7579762A>T	CA362684368	DSP	c.3572A>T (p.Glu1191Val)
6	g.7579763G>A	CA448714292	DSP	c.3573G>A (p.Glu1191=)	ClinVar dbSNP gnomAD v4
6	g.7579763G>C	CA038437	DSP	c.3573G>C (p.Glu1191Asp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6	g.7579763G=	CA1608614767	DSP	c.3573G= (p.Glu1191=)
6	g.7579763G>T	CA362684370	DSP	c.3573G>T (p.Glu1191Asp)	ClinVar dbSNP
6	g.7579764C>A	CA362684371	DSP	c.3574C>A (p.Leu1192Met)
6	g.7579764C=	CA1608614777	DSP	c.3574C= (p.Leu1192=)
6	g.7579764C>G	CA362684372	DSP	c.3574C>G (p.Leu1192Val)	ClinVar dbSNP
6	g.7579764C>T	CA448714293	DSP	c.3574C>T (p.Leu1192=)	gnomAD v4
6	g.7579765T>A	CA362684373	DSP	c.3575T>A (p.Leu1192Gln)
6	g.7579765T>C	CA362684374	DSP	c.3575T>C (p.Leu1192Pro)
6	g.7579765T>G	CA362684375	DSP	c.3575T>G (p.Leu1192Arg)
6	g.7579766G>A	CA448714294	DSP	c.3576G>A (p.Leu1192=)
6	g.7579766G>C	CA448714295	DSP	c.3576G>C (p.Leu1192=)
6	g.7579766G>T	CA448714296	DSP	c.3576G>T (p.Leu1192=)
6	g.7579767G>A	CA362684376	DSP	c.3577G>A (p.Ala1193Thr)
6	g.7579767G>C	CA362684377	DSP	c.3577G>C (p.Ala1193Pro)
6	g.7579767G>T	CA362684378	DSP	c.3577G>T (p.Ala1193Ser)
6	g.7579768C>A	CA362684379	DSP	c.3578C>A (p.Ala1193Glu)	ClinVar gnomAD v4
6	g.7579768C=	CA1608614785	DSP	c.3578C= (p.Ala1193=)
6	g.7579768C>G	CA362684380	DSP	c.3578C>G (p.Ala1193Gly)
6	g.7579768C>T	CA362684381	DSP	c.3578C>T (p.Ala1193Val)	dbSNP
6	g.7579769A>C	CA448714299	DSP	c.3579A>C (p.Ala1193=)	gnomAD v4
6	g.7579769A>G	CA448714298	DSP	c.3579A>G (p.Ala1193=)
6	g.7579769A>T	CA448714297	DSP	c.3579A>T (p.Ala1193=)
6	g.7579770A>C	CA362684384	DSP	c.3580A>C (p.Lys1194Gln)
6	g.7579770A>G	CA362684382	DSP	c.3580A>G (p.Lys1194Glu)	gnomAD v4
6	g.7579770A>T	CA362684383	DSP	c.3580A>T (p.Lys1194Ter)
6	g.7579771A>C	CA362684385	DSP	c.3581A>C (p.Lys1194Thr)	gnomAD v4
6	g.7579771A>G	CA362684386	DSP	c.3581A>G (p.Lys1194Arg)
6	g.7579771A>T	CA362684387	DSP	c.3581A>T (p.Lys1194Met)
6	g.7579772G>A	CA448714300	DSP	c.3582G>A (p.Lys1194=)	ClinVar
6	g.7579772G>C	CA362684388	DSP	c.3582G>C (p.Lys1194Asn)
6	g.7579772G>T	CA362684389	DSP	c.3582G>T (p.Lys1194Asn)
6	g.7579773G>A	CA362684390	DSP	c.3583G>A (p.Val1195Ile) c.3582+1G>A (n.3582+1G>A)
6	g.7579773G>C	CA362684391	DSP	c.3583G>C (p.Val1195Leu) c.3582+1G>C (n.3582+1G>C)
6	g.7579773G>T	CA362684392	DSP	c.3583G>T (p.Val1195Leu) c.3582+1G>T (n.3582+1G>T)
6	g.7579774T>A	CA362684393	DSP	c.3584T>A (p.Val1195Glu) c.3582+2T>A (n.3582+2T>A)
6	g.7579774T>C	CA362684394	DSP	c.3584T>C (p.Val1195Ala) c.3582+2T>C (n.3582+2T>C)	COSMIC
6	g.7579774T>G	CA362684395	DSP	c.3584T>G (p.Val1195Gly) c.3582+2T>G (n.3582+2T>G)
6	g.7579775A>C	CA448714301	DSP	c.3585A>C (p.Val1195=) c.3582+3A>C (n.3582+3A>C)
6	g.7579775A>G	CA448714302	DSP	c.3585A>G (p.Val1195=) c.3582+3A>G (n.3582+3A>G)
6	g.7579775A>T	CA448714303	DSP	c.3585A>T (p.Val1195=) c.3582+3A>T (n.3582+3A>T)
6	g.7579776A>C	CA448714304	DSP	c.3586A>C (p.Arg1196=) c.3582+4A>C (n.3582+4A>C)
6	g.7579776A>G	CA362684396	DSP	c.3586A>G (p.Arg1196Gly) c.3582+4A>G (n.3582+4A>G)
6	g.7579776A>T	CA362684397	DSP	c.3586A>T (p.Arg1196Ter) c.3582+4A>T (n.3582+4A>T)
6	g.7579777G>A	CA362684400	DSP	c.3587G>A (p.Arg1196Lys) c.3582+5G>A (n.3582+5G>A)
6	g.7579777G>C	CA362684399	DSP	c.3587G>C (p.Arg1196Thr) c.3582+5G>C (n.3582+5G>C)
6	g.7579777G>T	CA362684398	DSP	c.3587G>T (p.Arg1196Ile) c.3582+5G>T (n.3582+5G>T)
6	g.7579778A>C	CA362684401	DSP	c.3588A>C (p.Arg1196Ser) c.3582+6A>C (n.3582+6A>C)
6	g.7579778A>G	CA448714305	DSP	c.3588A>G (p.Arg1196=) c.3582+6A>G (n.3582+6A>G)	gnomAD v4
6	g.7579778A>T	CA362684402	DSP	c.3588A>T (p.Arg1196Ser) c.3582+6A>T (n.3582+6A>T)
6	g.7579779A>C	CA362684403	DSP	c.3589A>C (p.Asn1197His) c.3582+7A>C (n.3582+7A>C)
6	g.7579779A>G	CA362684404	DSP	c.3589A>G (p.Asn1197Asp) c.3582+7A>G (n.3582+7A>G)
6	g.7579779A>T	CA362684405	DSP	c.3589A>T (p.Asn1197Tyr) c.3582+7A>T (n.3582+7A>T)
6	g.7579780A>C	CA362684406	DSP	c.3590A>C (p.Asn1197Thr) c.3582+8A>C (n.3582+8A>C)	COSMIC
6	g.7579780A>G	CA362684407	DSP	c.3590A>G (p.Asn1197Ser) c.3582+8A>G (n.3582+8A>G)	COSMIC
6	g.7579780A>T	CA362684408	DSP	c.3590A>T (p.Asn1197Ile) c.3582+8A>T (n.3582+8A>T)
6	g.7579781C>A	CA362684409	DSP	c.3591C>A (p.Asn1197Lys) c.3582+9C>A (n.3582+9C>A)	dbSNP gnomAD v2
6	g.7579781C=	CA1608614790	DSP	c.3591C= (p.Asn1197=) c.3582+9C= (n.3582+9C=)
6	g.7579781C>G	CA362684410	DSP	c.3591C>G (p.Asn1197Lys) c.3582+9C>G (n.3582+9C>G)
6	g.7579781C>T	CA448714306	DSP	c.3591C>T (p.Asn1197=) c.3582+9C>T (n.3582+9C>T)	ClinVar dbSNP gnomAD v2
6	g.7579782C>A	CA362684411	DSP	c.3592C>A (p.His1198Asn) c.3582+10C>A (n.3582+10C>A)
6	g.7579782C=	CA1608614797	DSP	c.3592C= (p.His1198=) c.3582+10C= (n.3582+10C=)
6	g.7579782C>G	CA362684412	DSP	c.3592C>G (p.His1198Asp) c.3582+10C>G (n.3582+10C>G)
6	g.7579782C>T	CA038457	DSP	c.3592C>T (p.His1198Tyr) c.3582+10C>T (n.3582+10C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.7579783A=	CA1608614798	DSP	c.3593A= (p.His1198=) c.3582+11A= (n.3582+11A=)
6	g.7579783A>C	CA362684414	DSP	c.3593A>C (p.His1198Pro) c.3582+11A>C (n.3582+11A>C)
6	g.7579783A>G	CA362684415	DSP	c.3593A>G (p.His1198Arg) c.3582+11A>G (n.3582+11A>G)	dbSNP gnomAD v2 gnomAD v4
6	g.7579783A>T	CA362684413	DSP	c.3593A>T (p.His1198Leu) c.3582+11A>T (n.3582+11A>T)
6	g.7579784C>A	CA362684416	DSP	c.3594C>A (p.His1198Gln) c.3582+12C>A (n.3582+12C>A)
6	g.7579784C>G	CA362684417	DSP	c.3594C>G (p.His1198Gln) c.3582+12C>G (n.3582+12C>G)
6	g.7579784C>T	CA448714308	DSP	c.3594C>T (p.His1198=) c.3582+12C>T (n.3582+12C>T)
6	g.7579785T>A	CA362684418	DSP	c.3595T>A (p.Tyr1199Asn) c.3582+13T>A (n.3582+13T>A)
6	g.7579785T>C	CA362684419	DSP	c.3595T>C (p.Tyr1199His) c.3582+13T>C (n.3582+13T>C)
6	g.7579785T>G	CA362684420	DSP	c.3595T>G (p.Tyr1199Asp) c.3582+13T>G (n.3582+13T>G)
6	g.7579786A=	CA1608614801	DSP	c.3596A= (p.Tyr1199=) c.3582+14A= (n.3582+14A=)
6	g.7579786A>C	CA362684421	DSP	c.3596A>C (p.Tyr1199Ser) c.3582+14A>C (n.3582+14A>C)
6	g.7579786A>G	CA362684422	DSP	c.3596A>G (p.Tyr1199Cys) c.3582+14A>G (n.3582+14A>G)	ClinVar dbSNP gnomAD v4
6	g.7579786A>T	CA362684423	DSP	c.3596A>T (p.Tyr1199Phe) c.3582+14A>T (n.3582+14A>T)
6	g.7579787T>A	CA362684424	DSP	c.3597T>A (p.Tyr1199Ter) c.3582+15T>A (n.3582+15T>A)
6	g.7579787T>C	CA448714312	DSP	c.3597T>C (p.Tyr1199=) c.3582+15T>C (n.3582+15T>C)
6	g.7579787T>G	CA362684425	DSP	c.3597T>G (p.Tyr1199Ter) c.3582+15T>G (n.3582+15T>G)
6	g.7579788A>C	CA362684426	DSP	c.3598A>C (p.Asn1200His) c.3582+16A>C (n.3582+16A>C)
6	g.7579788A>G	CA362684427	DSP	c.3598A>G (p.Asn1200Asp) c.3582+16A>G (n.3582+16A>G)
6	g.7579788A>T	CA362684428	DSP	c.3598A>T (p.Asn1200Tyr) c.3582+16A>T (n.3582+16A>T)
6	g.7579789A=	CA1608614805	DSP	c.3599A= (p.Asn1200=) c.3582+17A= (n.3582+17A=)
6	g.7579789A>C	CA362684429	DSP	c.3599A>C (p.Asn1200Thr) c.3582+17A>C (n.3582+17A>C)
6	g.7579789A>G	CA362684430	DSP	c.3599A>G (p.Asn1200Ser) c.3582+17A>G (n.3582+17A>G)	dbSNP
6	g.7579789A>T	CA362684431	DSP	c.3599A>T (p.Asn1200Ile) c.3582+17A>T (n.3582+17A>T)
6	g.7579790T>A	CA362684432	DSP	c.3600T>A (p.Asn1200Lys) c.3582+18T>A (n.3582+18T>A)
6	g.7579790T>C	CA448714316	DSP	c.3600T>C (p.Asn1200=) c.3582+18T>C (n.3582+18T>C)
6	g.7579790T>G	CA004249	DSP	c.3600T>G (p.Asn1200Lys) c.3582+18T>G (n.3582+18T>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.7579790T=	CA1608614808	DSP	c.3600T= (p.Asn1200=) c.3582+18T= (n.3582+18T=)
6	g.7579791G>A	CA038480	DSP	c.3601G>A (p.Glu1201Lys) c.3582+19G>A (n.3582+19G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6	g.7579791G>C	CA362684433	DSP	c.3601G>C (p.Glu1201Gln) c.3582+19G>C (n.3582+19G>C)
6	g.7579791G=	CA1608614816	DSP	c.3601G= (p.Glu1201=) c.3582+19G= (n.3582+19G=)
6	g.7579791G>T	CA362684434	DSP	c.3601G>T (p.Glu1201Ter) c.3582+19G>T (n.3582+19G>T)
6	g.7579794_7579796del	CA2578524493	DSP	c.3604_3606del (p.Glu1202del) c.3582+22_3582+24del (n.3582+22_3582+24del)	gnomAD v4
6	g.7579792A=	CA1608614821	DSP	c.3602A= (p.Glu1201=) c.3582+20A= (n.3582+20A=)
6	g.7579792A>C	CA362684435	DSP	c.3602A>C (p.Glu1201Ala) c.3582+20A>C (n.3582+20A>C)
6	g.7579792A>G	CA362684436	DSP	c.3602A>G (p.Glu1201Gly) c.3582+20A>G (n.3582+20A>G)	dbSNP gnomAD v2 gnomAD v4
6	g.7579792A>T	CA362684437	DSP	c.3602A>T (p.Glu1201Val) c.3582+20A>T (n.3582+20A>T)
6	g.7579793G>A	CA448714317	DSP	c.3603G>A (p.Glu1201=) c.3582+21G>A (n.3582+21G>A)
6	g.7579793G>C	CA362684438	DSP	c.3603G>C (p.Glu1201Asp) c.3582+21G>C (n.3582+21G>C)
6	g.7579793G>T	CA362684439	DSP	c.3603G>T (p.Glu1201Asp) c.3582+21G>T (n.3582+21G>T)
6	g.7579794G>A	CA362684440	DSP	c.3604G>A (p.Glu1202Lys) c.3582+22G>A (n.3582+22G>A)
6	g.7579794G>C	CA362684441	DSP	c.3604G>C (p.Glu1202Gln) c.3582+22G>C (n.3582+22G>C)
6	g.7579794G>T	CA362684442	DSP	c.3604G>T (p.Glu1202Ter) c.3582+22G>T (n.3582+22G>T)
6	g.7579795A=	CA1608614826	DSP	c.3605A= (p.Glu1202=) c.3582+23A= (n.3582+23A=)
6	g.7579795A>C	CA362684444	DSP	c.3605A>C (p.Glu1202Ala) c.3582+23A>C (n.3582+23A>C)
6	g.7579795A>G	CA362684443	DSP	c.3605A>G (p.Glu1202Gly) c.3582+23A>G (n.3582+23A>G)	gnomAD v4
6	g.7579795A>T	CA133968541	DSP	c.3605A>T (p.Glu1202Val) c.3582+23A>T (n.3582+23A>T)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched