Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.7579360T>A	CA362683209	DSP	c.3170T>A (p.Phe1057Tyr)
6	g.7579360T>C	CA362683210	DSP	c.3170T>C (p.Phe1057Ser)
6	g.7579360T>G	CA362683208	DSP	c.3170T>G (p.Phe1057Cys)
6	g.7579361C>A	CA362683211	DSP	c.3171C>A (p.Phe1057Leu)
6	g.7579361C>G	CA362683212	DSP	c.3171C>G (p.Phe1057Leu)
6	g.7579361C>T	CA448714203	DSP	c.3171C>T (p.Phe1057=)	gnomAD v4
6	g.7579362C>A	CA362683213	DSP	c.3172C>A (p.Leu1058Met)
6	g.7579362C>G	CA362683214	DSP	c.3172C>G (p.Leu1058Val)	ClinVar
6	g.7579362C>T	CA448714204	DSP	c.3172C>T (p.Leu1058=)	gnomAD v4
6	g.7579363T>A	CA362683215	DSP	c.3173T>A (p.Leu1058Gln)
6	g.7579363T>C	CA362683216	DSP	c.3173T>C (p.Leu1058Pro)
6	g.7579363T>G	CA362683217	DSP	c.3173T>G (p.Leu1058Arg)
6	g.7579364G>A	CA448714205	DSP	c.3174G>A (p.Leu1058=)
6	g.7579364G>C	CA448714206	DSP	c.3174G>C (p.Leu1058=)
6	g.7579364G>T	CA448714207	DSP	c.3174G>T (p.Leu1058=)
6	g.7579365G>A	CA362683218	DSP	c.3175G>A (p.Asp1059Asn)
6	g.7579365G>C	CA362683219	DSP	c.3175G>C (p.Asp1059His)
6	g.7579365G>T	CA362683220	DSP	c.3175G>T (p.Asp1059Tyr)
6	g.7579366A>C	CA362683221	DSP	c.3176A>C (p.Asp1059Ala)
6	g.7579366A>G	CA362683222	DSP	c.3176A>G (p.Asp1059Gly)
6	g.7579366A>T	CA362683223	DSP	c.3176A>T (p.Asp1059Val)
6	g.7579367T>A	CA362683225	DSP	c.3177T>A (p.Asp1059Glu)
6	g.7579367T>C	CA448714208	DSP	c.3177T>C (p.Asp1059=)
6	g.7579367T>G	CA362683224	DSP	c.3177T>G (p.Asp1059Glu)
6	g.7579368C>A	CA362683226	DSP	c.3178C>A (p.Gln1060Lys)
6	g.7579368C>G	CA362683227	DSP	c.3178C>G (p.Gln1060Glu)
6	g.7579368C>T	CA362683228	DSP	c.3178C>T (p.Gln1060Ter)
6	g.7579369A>C	CA362683229	DSP	c.3179A>C (p.Gln1060Pro)
6	g.7579369A>G	CA362683230	DSP	c.3179A>G (p.Gln1060Arg)
6	g.7579369A>T	CA362683231	DSP	c.3179A>T (p.Gln1060Leu)
6	g.7579370G>A	CA448714209	DSP	c.3180G>A (p.Gln1060=)
6	g.7579370G>C	CA362683232	DSP	c.3180G>C (p.Gln1060His)
6	g.7579370G>T	CA362683233	DSP	c.3180G>T (p.Gln1060His)
6	g.7579371A>C	CA362683234	DSP	c.3181A>C (p.Asn1061His)
6	g.7579371A>G	CA362683235	DSP	c.3181A>G (p.Asn1061Asp)
6	g.7579371A>T	CA362683236	DSP	c.3181A>T (p.Asn1061Tyr)
6	g.7579372A>C	CA362683237	DSP	c.3182A>C (p.Asn1061Thr)
6	g.7579372A>G	CA362683238	DSP	c.3182A>G (p.Asn1061Ser)
6	g.7579372A>T	CA362683239	DSP	c.3182A>T (p.Asn1061Ile)
6	g.7579373C>A	CA362683240	DSP	c.3183C>A (p.Asn1061Lys)
6	g.7579373C>G	CA362683241	DSP	c.3183C>G (p.Asn1061Lys)
6	g.7579373C>T	CA448714210	DSP	c.3183C>T (p.Asn1061=)
6	g.7579374C>A	CA362683242	DSP	c.3184C>A (p.Leu1062Met)	ClinVar dbSNP
6	g.7579374C>G	CA362683243	DSP	c.3184C>G (p.Leu1062Val)
6	g.7579374C>T	CA448714211	DSP	c.3184C>T (p.Leu1062=)	gnomAD v4
6	g.7579375T>A	CA362683244	DSP	c.3185T>A (p.Leu1062Gln)
6	g.7579375T>C	CA362683245	DSP	c.3185T>C (p.Leu1062Pro)
6	g.7579375T>G	CA362683246	DSP	c.3185T>G (p.Leu1062Arg)
6	g.7579376G>A	CA448714212	DSP	c.3186G>A (p.Leu1062=)
6	g.7579376G>C	CA448714214	DSP	c.3186G>C (p.Leu1062=)
6	g.7579376G>T	CA448714213	DSP	c.3186G>T (p.Leu1062=)	ClinVar
6	g.7579377C>A	CA362683247	DSP	c.3187C>A (p.Gln1063Lys)
6	g.7579377C>G	CA362683248	DSP	c.3187C>G (p.Gln1063Glu)
6	g.7579377C>T	CA362683249	DSP	c.3187C>T (p.Gln1063Ter)
6	g.7579378A>C	CA362683250	DSP	c.3188A>C (p.Gln1063Pro)
6	g.7579378A>G	CA362683251	DSP	c.3188A>G (p.Gln1063Arg)
6	g.7579378A>T	CA362683252	DSP	c.3188A>T (p.Gln1063Leu)
6	g.7579379G>A	CA448714215	DSP	c.3189G>A (p.Gln1063=)
6	g.7579379G>C	CA362683253	DSP	c.3189G>C (p.Gln1063His)
6	g.7579379G>T	CA362683254	DSP	c.3189G>T (p.Gln1063His)
6	g.7579379_7579380delinsGA	CA1608613678	DSP	c.3189_3190delinsGA (p.Gln1063=)
6	g.7579380A=	CA1608613686	DSP	c.3190A= (p.Lys1064=)
6	g.7579380A>C	CA362683257	DSP	c.3190A>C (p.Lys1064Gln)
6	g.7579380A>G	CA362683256	DSP	c.3190A>G (p.Lys1064Glu)	ClinVar dbSNP
6	g.7579380A>T	CA362683255	DSP	c.3190A>T (p.Lys1064Ter)
6	g.7579382dup	CA2499218555	DSP	c.3192dup (p.Tyr1065IlefsTer23)	ClinVar dbSNP
6	g.7579382del	CA133968091	DSP	c.3192del (p.Lys1064AsnfsTer19)	dbSNP
6	g.7579381A>C	CA362683258	DSP	c.3191A>C (p.Lys1064Thr)
6	g.7579381A>G	CA362683259	DSP	c.3191A>G (p.Lys1064Arg)
6	g.7579381A>T	CA362683260	DSP	c.3191A>T (p.Lys1064Ile)
6	g.7579382A>C	CA362683261	DSP	c.3192A>C (p.Lys1064Asn)
6	g.7579382A>G	CA448714218	DSP	c.3192A>G (p.Lys1064=)
6	g.7579382A>T	CA362683262	DSP	c.3192A>T (p.Lys1064Asn)
6	g.7579383T>A	CA362683265	DSP	c.3193T>A (p.Tyr1065Asn)
6	g.7579383T>C	CA362683263	DSP	c.3193T>C (p.Tyr1065His)
6	g.7579383T>G	CA362683264	DSP	c.3193T>G (p.Tyr1065Asp)
6	g.7579384A=	CA1608613692	DSP	c.3194A= (p.Tyr1065=)
6	g.7579384A>C	CA362683266	DSP	c.3194A>C (p.Tyr1065Ser)
6	g.7579384A>G	CA362683267	DSP	c.3194A>G (p.Tyr1065Cys)
6	g.7579384A>T	CA362683268	DSP	c.3194A>T (p.Tyr1065Phe)	ClinVar dbSNP
6	g.7579385C>A	CA362683269	DSP	c.3195C>A (p.Tyr1065Ter)
6	g.7579385C=	CA1608613703	DSP	c.3195C= (p.Tyr1065=)
6	g.7579385C>G	CA10587633	DSP	c.3195C>G (p.Tyr1065Ter)	ClinVar dbSNP gnomAD v4
6	g.7579385C>T	CA448714220	DSP	c.3195C>T (p.Tyr1065=)	ClinVar gnomAD v4
6	g.7579386C>A	CA362683270	DSP	c.3196C>A (p.Gln1066Lys)	ClinVar dbSNP gnomAD v2 gnomAD v4
6	g.7579386C=	CA1608613710	DSP	c.3196C= (p.Gln1066=)
6	g.7579386C>G	CA362683272	DSP	c.3196C>G (p.Gln1066Glu)
6	g.7579386C>T	CA362683271	DSP	c.3196C>T (p.Gln1066Ter)
6	g.7579387A=	CA1608613715	DSP	c.3197A= (p.Gln1066=)
6	g.7579387A>C	CA362683273	DSP	c.3197A>C (p.Gln1066Pro)
6	g.7579387A>G	CA362683274	DSP	c.3197A>G (p.Gln1066Arg)	dbSNP gnomAD v4
6	g.7579387A>T	CA362683275	DSP	c.3197A>T (p.Gln1066Leu)
6	g.7579388G>A	CA448714224	DSP	c.3198G>A (p.Gln1066=)
6	g.7579388G>C	CA362683276	DSP	c.3198G>C (p.Gln1066His)
6	g.7579388G>T	CA362683277	DSP	c.3198G>T (p.Gln1066His)
6	g.7579389G>A	CA362683279	DSP	c.3199G>A (p.Ala1067Thr)
6	g.7579389G>C	CA362683278	DSP	c.3199G>C (p.Ala1067Pro)
6	g.7579389G=	CA1608613724	DSP	c.3199G= (p.Ala1067=)
6	g.7579389G>T	CA005770	DSP	c.3199G>T (p.Ala1067Ser)	ClinVar dbSNP gnomAD v2 gnomAD v4
6	g.7579390C>A	CA362683280	DSP	c.3200C>A (p.Ala1067Glu)
6	g.7579390C=	CA1608613738	DSP	c.3200C= (p.Ala1067=)
6	g.7579390C>G	CA362683281	DSP	c.3200C>G (p.Ala1067Gly)
6	g.7579390C>T	CA362683282	DSP	c.3200C>T (p.Ala1067Val)	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.7579390_7579392delinsCAG	CA1608613736	DSP	c.3200_3202delinsCAG (p.Ala1067=)
6	g.7579391A>C	CA448714231	DSP	c.3201A>C (p.Ala1067=)
6	g.7579391A>G	CA448714229	DSP	c.3201A>G (p.Ala1067=)
6	g.7579391A>T	CA448714230	DSP	c.3201A>T (p.Ala1067=)
6	g.7579393_7579394del	CA917669408	DSP	c.3203_3204del (p.Glu1068ValfsTer19)	ClinVar dbSNP
6	g.7579392G>A	CA362683283	DSP	c.3202G>A (p.Glu1068Lys)
6	g.7579392G>C	CA362683284	DSP	c.3202G>C (p.Glu1068Gln)	ClinVar
6	g.7579392G>T	CA362683285	DSP	c.3202G>T (p.Glu1068Ter)	gnomAD v4
6	g.7579393A>C	CA362683286	DSP	c.3203A>C (p.Glu1068Ala)
6	g.7579393A>G	CA362683288	DSP	c.3203A>G (p.Glu1068Gly)
6	g.7579393A>T	CA362683287	DSP	c.3203A>T (p.Glu1068Val)
6	g.7579394G>A	CA448714233	DSP	c.3204G>A (p.Glu1068=)
6	g.7579394G>C	CA362683289	DSP	c.3204G>C (p.Glu1068Asp)
6	g.7579394G>T	CA362683290	DSP	c.3204G>T (p.Glu1068Asp)
6	g.7579395T>A	CA362683291	DSP	c.3205T>A (p.Cys1069Ser)
6	g.7579395T>C	CA362683292	DSP	c.3205T>C (p.Cys1069Arg)	gnomAD v4
6	g.7579395T>G	CA362683293	DSP	c.3205T>G (p.Cys1069Gly)
6	g.7579396G>A	CA362683294	DSP	c.3206G>A (p.Cys1069Tyr)
6	g.7579396G>C	CA362683295	DSP	c.3206G>C (p.Cys1069Ser)
6	g.7579396G>T	CA362683296	DSP	c.3206G>T (p.Cys1069Phe)
6	g.7579397T>A	CA362683297	DSP	c.3207T>A (p.Cys1069Ter)
6	g.7579397T>C	CA448714234	DSP	c.3207T>C (p.Cys1069=)
6	g.7579397T>G	CA362683298	DSP	c.3207T>G (p.Cys1069Trp)
6	g.7579398T>A	CA362683301	DSP	c.3208T>A (p.Ser1070Thr)
6	g.7579398T>C	CA362683300	DSP	c.3208T>C (p.Ser1070Pro)
6	g.7579398T>G	CA362683299	DSP	c.3208T>G (p.Ser1070Ala)
6	g.7579399C>A	CA362683302	DSP	c.3209C>A (p.Ser1070Tyr)
6	g.7579399C=	CA1608613746	DSP	c.3209C= (p.Ser1070=)
6	g.7579399C>G	CA362683304	DSP	c.3209C>G (p.Ser1070Cys)	dbSNP gnomAD v3 gnomAD v4
6	g.7579399C>T	CA362683303	DSP	c.3209C>T (p.Ser1070Phe)	gnomAD v4 COSMIC
6	g.7579400C>A	CA448714235	DSP	c.3210C>A (p.Ser1070=)
6	g.7579400C>G	CA448714236	DSP	c.3210C>G (p.Ser1070=)
6	g.7579400C>T	CA448714237	DSP	c.3210C>T (p.Ser1070=)
6	g.7579401C>A	CA362683305	DSP	c.3211C>A (p.Gln1071Lys)
6	g.7579401C>G	CA362683307	DSP	c.3211C>G (p.Gln1071Glu)
6	g.7579401C>T	CA362683306	DSP	c.3211C>T (p.Gln1071Ter)	ClinVar gnomAD v4
6	g.7579402A>C	CA362683308	DSP	c.3212A>C (p.Gln1071Pro)
6	g.7579402A>G	CA362683310	DSP	c.3212A>G (p.Gln1071Arg)
6	g.7579402A>T	CA362683309	DSP	c.3212A>T (p.Gln1071Leu)
6	g.7579403G>A	CA448714238	DSP	c.3213G>A (p.Gln1071=)
6	g.7579403G>C	CA362683311	DSP	c.3213G>C (p.Gln1071His)
6	g.7579403G>T	CA362683312	DSP	c.3213G>T (p.Gln1071His)
6	g.7579404T>A	CA362683313	DSP	c.3214T>A (p.Phe1072Ile)
6	g.7579404T>C	CA362683314	DSP	c.3214T>C (p.Phe1072Leu)
6	g.7579404T>G	CA362683315	DSP	c.3214T>G (p.Phe1072Val)
6	g.7579405T>A	CA362683316	DSP	c.3215T>A (p.Phe1072Tyr)
6	g.7579405T>C	CA362683317	DSP	c.3215T>C (p.Phe1072Ser)
6	g.7579405T>G	CA362683318	DSP	c.3215T>G (p.Phe1072Cys)
6	g.7579406C>A	CA362683319	DSP	c.3216C>A (p.Phe1072Leu)
6	g.7579406C=	CA1608613753	DSP	c.3216C= (p.Phe1072=)
6	g.7579406C>G	CA362683320	DSP	c.3216C>G (p.Phe1072Leu)
6	g.7579406C>T	CA037429	DSP	c.3216C>T (p.Phe1072=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6	g.7579407A>C	CA362683323	DSP	c.3217A>C (p.Lys1073Gln)
6	g.7579407A>G	CA362683322	DSP	c.3217A>G (p.Lys1073Glu)
6	g.7579407A>T	CA362683321	DSP	c.3217A>T (p.Lys1073Ter)
6	g.7579408A=	CA1608613760	DSP	c.3218A= (p.Lys1073=)
6	g.7579408A>C	CA362683324	DSP	c.3218A>C (p.Lys1073Thr)
6	g.7579408A>G	CA362683325	DSP	c.3218A>G (p.Lys1073Arg)	dbSNP gnomAD v4
6	g.7579408A>T	CA362683326	DSP	c.3218A>T (p.Lys1073Ile)	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.7579409A=	CA1608613765	DSP	c.3219A= (p.Lys1073=)
6	g.7579409A>C	CA362683327	DSP	c.3219A>C (p.Lys1073Asn)
6	g.7579409A>G	CA448714239	DSP	c.3219A>G (p.Lys1073=)	dbSNP
6	g.7579409A>T	CA362683328	DSP	c.3219A>T (p.Lys1073Asn)
6	g.7579410G>A	CA362683329	DSP	c.3220G>A (p.Ala1074Thr)
6	g.7579410G>C	CA362683330	DSP	c.3220G>C (p.Ala1074Pro)
6	g.7579410G>T	CA362683331	DSP	c.3220G>T (p.Ala1074Ser)
6	g.7579411C>A	CA005778	DSP	c.3221C>A (p.Ala1074Glu)	ClinVar dbSNP
6	g.7579411C=	CA1608613772	DSP	c.3221C= (p.Ala1074=)
6	g.7579411C>G	CA362683332	DSP	c.3221C>G (p.Ala1074Gly)
6	g.7579411C>T	CA037465	DSP	c.3221C>T (p.Ala1074Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.7579412G>A	CA037479	DSP	c.3222G>A (p.Ala1074=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6	g.7579412G>C	CA448714240	DSP	c.3222G>C (p.Ala1074=)
6	g.7579412G=	CA1608613776	DSP	c.3222G= (p.Ala1074=)
6	g.7579412G>T	CA448714241	DSP	c.3222G>T (p.Ala1074=)
6	g.7579413A>C	CA362683335	DSP	c.3223A>C (p.Lys1075Gln)
6	g.7579413A>G	CA362683334	DSP	c.3223A>G (p.Lys1075Glu)
6	g.7579413A>T	CA362683333	DSP	c.3223A>T (p.Lys1075Ter)
6	g.7579414A>C	CA362683338	DSP	c.3224A>C (p.Lys1075Thr)
6	g.7579414A>G	CA362683336	DSP	c.3224A>G (p.Lys1075Arg)
6	g.7579414A>T	CA362683337	DSP	c.3224A>T (p.Lys1075Met)
6	g.7579415G>A	CA448714242	DSP	c.3225G>A (p.Lys1075=)
6	g.7579415G>C	CA362683339	DSP	c.3225G>C (p.Lys1075Asn)
6	g.7579415G>T	CA362683340	DSP	c.3225G>T (p.Lys1075Asn)
6	g.7579416C>A	CA362683341	DSP	c.3226C>A (p.Leu1076Ile)
6	g.7579416C=	CA1608613783	DSP	c.3226C= (p.Leu1076=)
6	g.7579416C>G	CA362683342	DSP	c.3226C>G (p.Leu1076Val)
6	g.7579416C>T	CA037492	DSP	c.3226C>T (p.Leu1076Phe)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.7579417T>A	CA362683343	DSP	c.3227T>A (p.Leu1076His)
6	g.7579417T>C	CA362683344	DSP	c.3227T>C (p.Leu1076Pro)
6	g.7579417T>G	CA362683345	DSP	c.3227T>G (p.Leu1076Arg)
6	g.7579418T>A	CA448714244	DSP	c.3228T>A (p.Leu1076=)
6	g.7579418T>C	CA448714243	DSP	c.3228T>C (p.Leu1076=)	ClinVar dbSNP
6	g.7579418T>G	CA448714245	DSP	c.3228T>G (p.Leu1076=)
6	g.7579418T=	CA1608613798	DSP	c.3228T= (p.Leu1076=)
6	g.7579419G>A	CA362683346	DSP	c.3229G>A (p.Ala1077Thr)
6	g.7579419G>C	CA362683347	DSP	c.3229G>C (p.Ala1077Pro)
6	g.7579419G>T	CA362683348	DSP	c.3229G>T (p.Ala1077Ser)
6	g.7579420C>A	CA362683351	DSP	c.3230C>A (p.Ala1077Glu)	dbSNP gnomAD v2 gnomAD v4
6	g.7579420C=	CA1608613805	DSP	c.3230C= (p.Ala1077=)
6	g.7579420C>G	CA362683349	DSP	c.3230C>G (p.Ala1077Gly)	dbSNP gnomAD v4
6	g.7579420C>T	CA362683350	DSP	c.3230C>T (p.Ala1077Val)	ClinVar dbSNP gnomAD v4 COSMIC
6	g.7579421G>A	CA037504	DSP	c.3231G>A (p.Ala1077=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.7579421G>C	CA448714246	DSP	c.3231G>C (p.Ala1077=)	ClinVar dbSNP gnomAD v2 gnomAD v4
6	g.7579421G=	CA1608613812	DSP	c.3231G= (p.Ala1077=)
6	g.7579421G>T	CA037528	DSP	c.3231G>T (p.Ala1077=)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.7579422A>C	CA362683352	DSP	c.3232A>C (p.Ser1078Arg)
6	g.7579422A>G	CA362683353	DSP	c.3232A>G (p.Ser1078Gly)
6	g.7579422A>T	CA362683354	DSP	c.3232A>T (p.Ser1078Cys)
6	g.7579423G>A	CA362683355	DSP	c.3233G>A (p.Ser1078Asn)
6	g.7579423G>C	CA362683356	DSP	c.3233G>C (p.Ser1078Thr)
6	g.7579423G>T	CA362683357	DSP	c.3233G>T (p.Ser1078Ile)
6	g.7579424C>A	CA362683358	DSP	c.3234C>A (p.Ser1078Arg)
6	g.7579424C>G	CA362683359	DSP	c.3234C>G (p.Ser1078Arg)
6	g.7579424C>T	CA448714247	DSP	c.3234C>T (p.Ser1078=)
6	g.7579425C>A	CA362683360	DSP	c.3235C>A (p.Leu1079Met)
6	g.7579425C>G	CA362683361	DSP	c.3235C>G (p.Leu1079Val)
6	g.7579425C>T	CA448714248	DSP	c.3235C>T (p.Leu1079=)
6	g.7579426T>A	CA362683363	DSP	c.3236T>A (p.Leu1079Gln)
6	g.7579426T>C	CA362683364	DSP	c.3236T>C (p.Leu1079Pro)
6	g.7579426T>G	CA362683362	DSP	c.3236T>G (p.Leu1079Arg)
6	g.7579427G>A	CA448714249	DSP	c.3237G>A (p.Leu1079=)
6	g.7579427G>C	CA448714250	DSP	c.3237G>C (p.Leu1079=)
6	g.7579427G=	CA1608613826	DSP	c.3237G= (p.Leu1079=)
6	g.7579427G>T	CA037543	DSP	c.3237G>T (p.Leu1079=)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.7579428G>A	CA362683370	DSP	c.3238G>A (p.Glu1080Lys)	ClinVar dbSNP
6	g.7579428G>C	CA362683367	DSP	c.3238G>C (p.Glu1080Gln)
6	g.7579428G=	CA1608613831	DSP	c.3238G= (p.Glu1080=)
6	g.7579428G>T	CA362683368	DSP	c.3238G>T (p.Glu1080Ter)
6	g.7579429A>C	CA362683371	DSP	c.3239A>C (p.Glu1080Ala)
6	g.7579429A>G	CA362683372	DSP	c.3239A>G (p.Glu1080Gly)
6	g.7579429A>T	CA362683374	DSP	c.3239A>T (p.Glu1080Val)
6	g.7579429_7579430delinsAG	CA1608613838	DSP	c.3239_3240delinsAG (p.Glu1080=)
6	g.7579430G>A	CA448714251	DSP	c.3240G>A (p.Glu1080=)	gnomAD v4
6	g.7579430G>C	CA362683375	DSP	c.3240G>C (p.Glu1080Asp)
6	g.7579430G>T	CA362683377	DSP	c.3240G>T (p.Glu1080Asp)
6	g.7579431del	CA133968147	DSP	c.3241del (p.Glu1081SerfsTer2)	dbSNP
6	g.7579431G>A	CA362683379	DSP	c.3241G>A (p.Glu1081Lys)	dbSNP gnomAD v4 COSMIC
6	g.7579431G>C	CA362683380	DSP	c.3241G>C (p.Glu1081Gln)
6	g.7579431G=	CA1608613848	DSP	c.3241G= (p.Glu1081=)
6	g.7579431G>T	CA362683382	DSP	c.3241G>T (p.Glu1081Ter)	ClinVar dbSNP
6	g.7579432A>C	CA362683386	DSP	c.3242A>C (p.Glu1081Ala)
6	g.7579432A>G	CA362683383	DSP	c.3242A>G (p.Glu1081Gly)
6	g.7579432A>T	CA362683385	DSP	c.3242A>T (p.Glu1081Val)	dbSNP gnomAD v4
6	g.7579433G>A	CA037560	DSP	c.3243G>A (p.Glu1081=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6	g.7579433G>C	CA362683389	DSP	c.3243G>C (p.Glu1081Asp)	dbSNP
6	g.7579433G=	CA1608613862	DSP	c.3243G= (p.Glu1081=)
6	g.7579433G>T	CA362683390	DSP	c.3243G>T (p.Glu1081Asp)	ClinVar
6	g.7579434C>A	CA362683392	DSP	c.3244C>A (p.Leu1082Met)
6	g.7579434C>G	CA362683393	DSP	c.3244C>G (p.Leu1082Val)
6	g.7579434C>T	CA448714252	DSP	c.3244C>T (p.Leu1082=)	ClinVar
6	g.7579435T>A	CA362683394	DSP	c.3245T>A (p.Leu1082Gln)
6	g.7579435T>C	CA362683396	DSP	c.3245T>C (p.Leu1082Pro)
6	g.7579435T>G	CA362683397	DSP	c.3245T>G (p.Leu1082Arg)
6	g.7579436G>A	CA448714253	DSP	c.3246G>A (p.Leu1082=)
6	g.7579436G>C	CA448714254	DSP	c.3246G>C (p.Leu1082=)
6	g.7579436G>T	CA448714255	DSP	c.3246G>T (p.Leu1082=)
6	g.7579437A>C	CA362683399	DSP	c.3247A>C (p.Lys1083Gln)
6	g.7579437A>G	CA362683401	DSP	c.3247A>G (p.Lys1083Glu)
6	g.7579437A>T	CA362683402	DSP	c.3247A>T (p.Lys1083Ter)
6	g.7579438A>C	CA362683405	DSP	c.3248A>C (p.Lys1083Thr)
6	g.7579438A>G	CA362683406	DSP	c.3248A>G (p.Lys1083Arg)
6	g.7579438A>T	CA362683404	DSP	c.3248A>T (p.Lys1083Met)
6	g.7579439G>A	CA037576	DSP	c.3249G>A (p.Lys1083=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.7579439G>C	CA362683407	DSP	c.3249G>C (p.Lys1083Asn)
6	g.7579439G=	CA1608613865	DSP	c.3249G= (p.Lys1083=)
6	g.7579439G>T	CA362683408	DSP	c.3249G>T (p.Lys1083Asn)
6	g.7579440A>C	CA448714256	DSP	c.3250A>C (p.Arg1084=)
6	g.7579440A>G	CA362683410	DSP	c.3250A>G (p.Arg1084Gly)
6	g.7579440A>T	CA362683412	DSP	c.3250A>T (p.Arg1084Ter)
6	g.7579441G>A	CA362683417	DSP	c.3251G>A (p.Arg1084Lys)	gnomAD v4
6	g.7579441G>C	CA362683414	DSP	c.3251G>C (p.Arg1084Thr)
6	g.7579441G>T	CA362683415	DSP	c.3251G>T (p.Arg1084Ile)
6	g.7579442A>C	CA362683419	DSP	c.3252A>C (p.Arg1084Ser)
6	g.7579442A>G	CA448714257	DSP	c.3252A>G (p.Arg1084=)	gnomAD v4
6	g.7579442A>T	CA362683421	DSP	c.3252A>T (p.Arg1084Ser)
6	g.7579443C>A	CA362683422	DSP	c.3253C>A (p.Gln1085Lys)
6	g.7579443C=	CA1608613871	DSP	c.3253C= (p.Gln1085=)
6	g.7579443C>G	CA362683423	DSP	c.3253C>G (p.Gln1085Glu)	dbSNP gnomAD v3 gnomAD v4
6	g.7579443C>T	CA362683424	DSP	c.3253C>T (p.Gln1085Ter)	ClinVar dbSNP
6	g.7579444A=	CA1608613873	DSP	c.3254A= (p.Gln1085=)
6	g.7579444A>C	CA362683426	DSP	c.3254A>C (p.Gln1085Pro)
6	g.7579444A>G	CA362683429	DSP	c.3254A>G (p.Gln1085Arg)
6	g.7579444A>T	CA362683428	DSP	c.3254A>T (p.Gln1085Leu)	ClinVar dbSNP
6	g.7579445G>A	CA448714258	DSP	c.3255G>A (p.Gln1085=)	gnomAD v4
6	g.7579445G>C	CA362683431	DSP	c.3255G>C (p.Gln1085His)
6	g.7579445G=	CA1608613882	DSP	c.3255G= (p.Gln1085=)
6	g.7579445G>T	CA362683433	DSP	c.3255G>T (p.Gln1085His)	dbSNP gnomAD v2 gnomAD v4
6	g.7579449_7579469dup	CA565358124	DSP	c.3259_3279dup (p.Ala1093_Lys1094insGluLeuAspGlyLysSerAla)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.7579446G>A	CA362683434	DSP	c.3256G>A (p.Ala1086Thr)
6	g.7579446G>C	CA362683435	DSP	c.3256G>C (p.Ala1086Pro)
6	g.7579446G>T	CA362683437	DSP	c.3256G>T (p.Ala1086Ser)
6	g.7579447C>A	CA362683438	DSP	c.3257C>A (p.Ala1086Asp)
6	g.7579447C>G	CA362683440	DSP	c.3257C>G (p.Ala1086Gly)
6	g.7579447C>T	CA362683441	DSP	c.3257C>T (p.Ala1086Val)
6	g.7579448T>A	CA448714259	DSP	c.3258T>A (p.Ala1086=)
6	g.7579448T>C	CA448714260	DSP	c.3258T>C (p.Ala1086=)
6	g.7579448T>G	CA448714261	DSP	c.3258T>G (p.Ala1086=)
6	g.7579449G>A	CA362683443	DSP	c.3259G>A (p.Glu1087Lys)	ClinVar dbSNP gnomAD v4
6	g.7579449G>C	CA362683444	DSP	c.3259G>C (p.Glu1087Gln)
6	g.7579449G=	CA1608613887	DSP	c.3259G= (p.Glu1087=)
6	g.7579449G>T	CA362683446	DSP	c.3259G>T (p.Glu1087Ter)
6	g.7579450A>C	CA362683451	DSP	c.3260A>C (p.Glu1087Ala)
6	g.7579450A>G	CA362683449	DSP	c.3260A>G (p.Glu1087Gly)
6	g.7579450A>T	CA362683448	DSP	c.3260A>T (p.Glu1087Val)
6	g.7579451G>A	CA133968170	DSP	c.3261G>A (p.Glu1087=)	ClinVar dbSNP gnomAD v4
6	g.7579451G>C	CA362683452	DSP	c.3261G>C (p.Glu1087Asp)	gnomAD v4
6	g.7579451G=	CA1608613895	DSP	c.3261G= (p.Glu1087=)
6	g.7579451G>T	CA362683453	DSP	c.3261G>T (p.Glu1087Asp)
6	g.7579452C>A	CA362683455	DSP	c.3262C>A (p.Leu1088Met)
6	g.7579452C>G	CA362683456	DSP	c.3262C>G (p.Leu1088Val)
6	g.7579452C>T	CA448714262	DSP	c.3262C>T (p.Leu1088=)	ClinVar gnomAD v4
6	g.7579453T>A	CA362683458	DSP	c.3263T>A (p.Leu1088Gln)
6	g.7579453T>C	CA362683460	DSP	c.3263T>C (p.Leu1088Pro)	ClinVar
6	g.7579453T>G	CA362683461	DSP	c.3263T>G (p.Leu1088Arg)
6	g.7579454G>A	CA448714265	DSP	c.3264G>A (p.Leu1088=)
6	g.7579454G>C	CA448714264	DSP	c.3264G>C (p.Leu1088=)
6	g.7579454G>T	CA448714263	DSP	c.3264G>T (p.Leu1088=)	ClinVar
6	g.7579455G>A	CA362683463	DSP	c.3265G>A (p.Asp1089Asn)
6	g.7579455G>C	CA362683464	DSP	c.3265G>C (p.Asp1089His)
6	g.7579455G>T	CA362683466	DSP	c.3265G>T (p.Asp1089Tyr)
6	g.7579456A>C	CA362683468	DSP	c.3266A>C (p.Asp1089Ala)
6	g.7579456A>G	CA362683469	DSP	c.3266A>G (p.Asp1089Gly)
6	g.7579456A>T	CA362683471	DSP	c.3266A>T (p.Asp1089Val)
6	g.7579457T>A	CA362683472	DSP	c.3267T>A (p.Asp1089Glu)
6	g.7579457T>C	CA448714266	DSP	c.3267T>C (p.Asp1089=)
6	g.7579457T>G	CA362683474	DSP	c.3267T>G (p.Asp1089Glu)
6	g.7579458G>A	CA362683478	DSP	c.3268G>A (p.Gly1090Arg)
6	g.7579458G>C	CA362683475	DSP	c.3268G>C (p.Gly1090Arg)
6	g.7579458G>T	CA362683476	DSP	c.3268G>T (p.Gly1090Trp)
6	g.7579459G>A	CA362683480	DSP	c.3269G>A (p.Gly1090Glu)
6	g.7579459G>C	CA362683482	DSP	c.3269G>C (p.Gly1090Ala)
6	g.7579459G>T	CA362683483	DSP	c.3269G>T (p.Gly1090Val)
6	g.7579460G>A	CA448714267	DSP	c.3270G>A (p.Gly1090=)	gnomAD v4
6	g.7579460G>C	CA448714269	DSP	c.3270G>C (p.Gly1090=)
6	g.7579460G>T	CA448714268	DSP	c.3270G>T (p.Gly1090=)

Number of alleles fetched