Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.129464288_129464451delinsAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCT	CA1663191420	LAMA2	c.6993-2_7154delinsAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCT c.7257-2_7418delinsAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCT n.624-2_785delinsAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCT n.332-2_493delinsAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCT c.6990-2_7151delinsAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCT c.7251-2_7412delinsAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCT c.7263-2_7424delinsAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCT c.5388-2_5549delinsAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCT
6	g.129464290_129464452del	CA10588988	LAMA2	c.6993_7155del c.7257_7419del n.624_786del n.332_494del c.6990_7152del c.7251_7413del c.7263_7425del c.5388_5550del	ClinVar dbSNP
6	g.129464347G>A	CA451925838	LAMA2	c.7050G>A (p.Leu2350=) c.7314G>A (p.Leu2438=) n.681G>A n.389G>A c.7047G>A (p.Leu2349=) c.7308G>A (p.Leu2436=) c.7320G>A (p.Leu2440=) c.5445G>A (p.Leu1815=)	gnomAD v4
6	g.129464347G>C	CA365620268	LAMA2	c.7050G>C (p.Leu2350Phe) c.7314G>C (p.Leu2438Phe) n.681G>C n.389G>C c.7047G>C (p.Leu2349Phe) c.7308G>C (p.Leu2436Phe) c.7320G>C (p.Leu2440Phe) c.5445G>C (p.Leu1815Phe)	dbSNP gnomAD v2 gnomAD v4
6	g.129464347G=	CA1663191512	LAMA2	c.7050G= (p.Leu2350=) c.7314G= (p.Leu2438=) n.681G= n.389G= c.7047G= (p.Leu2349=) c.7308G= (p.Leu2436=) c.7320G= (p.Leu2440=) c.5445G= (p.Leu1815=)
6	g.129464347G>T	CA365620273	LAMA2	c.7050G>T (p.Leu2350Phe) c.7314G>T (p.Leu2438Phe) n.681G>T n.389G>T c.7047G>T (p.Leu2349Phe) c.7308G>T (p.Leu2436Phe) c.7320G>T (p.Leu2440Phe) c.5445G>T (p.Leu1815Phe)
6	g.129464348G>A	CA3994425	LAMA2	c.7051G>A (p.Val2351Ile) c.7315G>A (p.Val2439Ile) n.682G>A n.390G>A c.7048G>A (p.Val2350Ile) c.7309G>A (p.Val2437Ile) c.7321G>A (p.Val2441Ile) c.5446G>A (p.Val1816Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.129464348G>C	CA365620277	LAMA2	c.7051G>C (p.Val2351Leu) c.7315G>C (p.Val2439Leu) n.682G>C n.390G>C c.7048G>C (p.Val2350Leu) c.7309G>C (p.Val2437Leu) c.7321G>C (p.Val2441Leu) c.5446G>C (p.Val1816Leu)
6	g.129464348G=	CA1663191515	LAMA2	c.7051G= (p.Val2351=) c.7315G= (p.Val2439=) n.682G= n.390G= c.7048G= (p.Val2350=) c.7309G= (p.Val2437=) c.7321G= (p.Val2441=) c.5446G= (p.Val1816=)
6	g.129464348G>T	CA365620279	LAMA2	c.7051G>T (p.Val2351Phe) c.7315G>T (p.Val2439Phe) n.682G>T n.390G>T c.7048G>T (p.Val2350Phe) c.7309G>T (p.Val2437Phe) c.7321G>T (p.Val2441Phe) c.5446G>T (p.Val1816Phe)
6	g.129464349T>A	CA365620286	LAMA2	c.7052T>A (p.Val2351Asp) c.7316T>A (p.Val2439Asp) n.683T>A n.391T>A c.7049T>A (p.Val2350Asp) c.7310T>A (p.Val2437Asp) c.7322T>A (p.Val2441Asp) c.5447T>A (p.Val1816Asp)
6	g.129464349T>C	CA365620288	LAMA2	c.7052T>C (p.Val2351Ala) c.7316T>C (p.Val2439Ala) n.683T>C n.391T>C c.7049T>C (p.Val2350Ala) c.7310T>C (p.Val2437Ala) c.7322T>C (p.Val2441Ala) c.5447T>C (p.Val1816Ala)	ClinVar
6	g.129464349T>G	CA365620306	LAMA2	c.7052T>G (p.Val2351Gly) c.7316T>G (p.Val2439Gly) n.683T>G n.391T>G c.7049T>G (p.Val2350Gly) c.7310T>G (p.Val2437Gly) c.7322T>G (p.Val2441Gly) c.5447T>G (p.Val1816Gly)
6	g.129464350C>A	CA451925859	LAMA2	c.7053C>A (p.Val2351=) c.7317C>A (p.Val2439=) n.684C>A n.392C>A c.7050C>A (p.Val2350=) c.7311C>A (p.Val2437=) c.7323C>A (p.Val2441=) c.5448C>A (p.Val1816=)
6	g.129464350C>G	CA451925860	LAMA2	c.7053C>G (p.Val2351=) c.7317C>G (p.Val2439=) n.684C>G n.392C>G c.7050C>G (p.Val2350=) c.7311C>G (p.Val2437=) c.7323C>G (p.Val2441=) c.5448C>G (p.Val1816=)
6	g.129464350C>T	CA451925862	LAMA2	c.7053C>T (p.Val2351=) c.7317C>T (p.Val2439=) n.684C>T n.392C>T c.7050C>T (p.Val2350=) c.7311C>T (p.Val2437=) c.7323C>T (p.Val2441=) c.5448C>T (p.Val1816=)
6	g.129464351A>C	CA365620314	LAMA2	c.7054A>C (p.Ser2352Arg) c.7318A>C (p.Ser2440Arg) n.685A>C n.393A>C c.7051A>C (p.Ser2351Arg) c.7312A>C (p.Ser2438Arg) c.7324A>C (p.Ser2442Arg) c.5449A>C (p.Ser1817Arg)	gnomAD v4
6	g.129464351A>G	CA365620315	LAMA2	c.7054A>G (p.Ser2352Gly) c.7318A>G (p.Ser2440Gly) n.685A>G n.393A>G c.7051A>G (p.Ser2351Gly) c.7312A>G (p.Ser2438Gly) c.7324A>G (p.Ser2442Gly) c.5449A>G (p.Ser1817Gly)
6	g.129464351A>T	CA365620312	LAMA2	c.7054A>T (p.Ser2352Cys) c.7318A>T (p.Ser2440Cys) n.685A>T n.393A>T c.7051A>T (p.Ser2351Cys) c.7312A>T (p.Ser2438Cys) c.7324A>T (p.Ser2442Cys) c.5449A>T (p.Ser1817Cys)
6	g.129464352G>A	CA365620317	LAMA2	c.7055G>A (p.Ser2352Asn) c.7319G>A (p.Ser2440Asn) n.686G>A n.394G>A c.7052G>A (p.Ser2351Asn) c.7313G>A (p.Ser2438Asn) c.7325G>A (p.Ser2442Asn) c.5450G>A (p.Ser1817Asn)
6	g.129464352G>C	CA3994426	LAMA2	c.7055G>C (p.Ser2352Thr) c.7319G>C (p.Ser2440Thr) n.686G>C n.394G>C c.7052G>C (p.Ser2351Thr) c.7313G>C (p.Ser2438Thr) c.7325G>C (p.Ser2442Thr) c.5450G>C (p.Ser1817Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.129464352G=	CA1663191517	LAMA2	c.7055G= (p.Ser2352=) c.7319G= (p.Ser2440=) n.686G= n.394G= c.7052G= (p.Ser2351=) c.7313G= (p.Ser2438=) c.7325G= (p.Ser2442=) c.5450G= (p.Ser1817=)
6	g.129464352G>T	CA365620325	LAMA2	c.7055G>T (p.Ser2352Ile) c.7319G>T (p.Ser2440Ile) n.686G>T n.394G>T c.7052G>T (p.Ser2351Ile) c.7313G>T (p.Ser2438Ile) c.7325G>T (p.Ser2442Ile) c.5450G>T (p.Ser1817Ile)	dbSNP gnomAD v3 gnomAD v4
6	g.129464353C>A	CA365620340	LAMA2	c.7056C>A (p.Ser2352Arg) c.7320C>A (p.Ser2440Arg) n.687C>A n.395C>A c.7053C>A (p.Ser2351Arg) c.7314C>A (p.Ser2438Arg) c.7326C>A (p.Ser2442Arg) c.5451C>A (p.Ser1817Arg)	dbSNP
6	g.129464353C=	CA1663191520	LAMA2	c.7056C= (p.Ser2352=) c.7320C= (p.Ser2440=) n.687C= n.395C= c.7053C= (p.Ser2351=) c.7314C= (p.Ser2438=) c.7326C= (p.Ser2442=) c.5451C= (p.Ser1817=)
6	g.129464353C>G	CA365620342	LAMA2	c.7056C>G (p.Ser2352Arg) c.7320C>G (p.Ser2440Arg) n.687C>G n.395C>G c.7053C>G (p.Ser2351Arg) c.7314C>G (p.Ser2438Arg) c.7326C>G (p.Ser2442Arg) c.5451C>G (p.Ser1817Arg)
6	g.129464353C>T	CA451925881	LAMA2	c.7056C>T (p.Ser2352=) c.7320C>T (p.Ser2440=) n.687C>T n.395C>T c.7053C>T (p.Ser2351=) c.7314C>T (p.Ser2438=) c.7326C>T (p.Ser2442=) c.5451C>T (p.Ser1817=)	ClinVar dbSNP COSMIC
6	g.129464354C>A	CA365620371	LAMA2	c.7057C>A (p.Arg2353Ser) c.7321C>A (p.Arg2441Ser) n.688C>A n.396C>A c.7054C>A (p.Arg2352Ser) c.7315C>A (p.Arg2439Ser) c.7327C>A (p.Arg2443Ser) c.5452C>A (p.Arg1818Ser)	dbSNP gnomAD v4
6	g.129464354C=	CA1663191525	LAMA2	c.7057C= (p.Arg2353=) c.7321C= (p.Arg2441=) n.688C= n.396C= c.7054C= (p.Arg2352=) c.7315C= (p.Arg2439=) c.7327C= (p.Arg2443=) c.5452C= (p.Arg1818=)
6	g.129464354C>G	CA365620361	LAMA2	c.7057C>G (p.Arg2353Gly) c.7321C>G (p.Arg2441Gly) n.688C>G n.396C>G c.7054C>G (p.Arg2352Gly) c.7315C>G (p.Arg2439Gly) c.7327C>G (p.Arg2443Gly) c.5452C>G (p.Arg1818Gly)
6	g.129464354C>T	CA3994427	LAMA2	c.7057C>T (p.Arg2353Cys) c.7321C>T (p.Arg2441Cys) n.688C>T n.396C>T c.7054C>T (p.Arg2352Cys) c.7315C>T (p.Arg2439Cys) c.7327C>T (p.Arg2443Cys) c.5452C>T (p.Arg1818Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.129464355G>A	CA3994428	LAMA2	c.7058G>A (p.Arg2353His) c.7322G>A (p.Arg2441His) n.689G>A n.397G>A c.7055G>A (p.Arg2352His) c.7316G>A (p.Arg2439His) c.7328G>A (p.Arg2443His) c.5453G>A (p.Arg1818His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6	g.129464355G>C	CA365620382	LAMA2	c.7058G>C (p.Arg2353Pro) c.7322G>C (p.Arg2441Pro) n.689G>C n.397G>C c.7055G>C (p.Arg2352Pro) c.7316G>C (p.Arg2439Pro) c.7328G>C (p.Arg2443Pro) c.5453G>C (p.Arg1818Pro)
6	g.129464355G=	CA1663191533	LAMA2	c.7058G= (p.Arg2353=) c.7322G= (p.Arg2441=) n.689G= n.397G= c.7055G= (p.Arg2352=) c.7316G= (p.Arg2439=) c.7328G= (p.Arg2443=) c.5453G= (p.Arg1818=)
6	g.129464355G>T	CA3994429	LAMA2	c.7058G>T (p.Arg2353Leu) c.7322G>T (p.Arg2441Leu) n.689G>T n.397G>T c.7055G>T (p.Arg2352Leu) c.7316G>T (p.Arg2439Leu) c.7328G>T (p.Arg2443Leu) c.5453G>T (p.Arg1818Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.129464356T>A	CA451925887	LAMA2	c.7059T>A (p.Arg2353=) c.7323T>A (p.Arg2441=) n.690T>A n.398T>A c.7056T>A (p.Arg2352=) c.7317T>A (p.Arg2439=) c.7329T>A (p.Arg2443=) c.5454T>A (p.Arg1818=)
6	g.129464356T>C	CA451925894	LAMA2	c.7059T>C (p.Arg2353=) c.7323T>C (p.Arg2441=) n.690T>C n.398T>C c.7056T>C (p.Arg2352=) c.7317T>C (p.Arg2439=) c.7329T>C (p.Arg2443=) c.5454T>C (p.Arg1818=)	dbSNP
6	g.129464356T>G	CA451925897	LAMA2	c.7059T>G (p.Arg2353=) c.7323T>G (p.Arg2441=) n.690T>G n.398T>G c.7056T>G (p.Arg2352=) c.7317T>G (p.Arg2439=) c.7329T>G (p.Arg2443=) c.5454T>G (p.Arg1818=)
6	g.129464356T=	CA1663191538	LAMA2	c.7059T= (p.Arg2353=) c.7323T= (p.Arg2441=) n.690T= n.398T= c.7056T= (p.Arg2352=) c.7317T= (p.Arg2439=) c.7329T= (p.Arg2443=) c.5454T= (p.Arg1818=)
6	g.129464357C>A	CA365620393	LAMA2	c.7060C>A (p.Pro2354Thr) c.7324C>A (p.Pro2442Thr) n.691C>A n.399C>A c.7057C>A (p.Pro2353Thr) c.7318C>A (p.Pro2440Thr) c.7330C>A (p.Pro2444Thr) c.5455C>A (p.Pro1819Thr)
6	g.129464357C>G	CA365620394	LAMA2	c.7060C>G (p.Pro2354Ala) c.7324C>G (p.Pro2442Ala) n.691C>G n.399C>G c.7057C>G (p.Pro2353Ala) c.7318C>G (p.Pro2440Ala) c.7330C>G (p.Pro2444Ala) c.5455C>G (p.Pro1819Ala)
6	g.129464357C>T	CA365620396	LAMA2	c.7060C>T (p.Pro2354Ser) c.7324C>T (p.Pro2442Ser) n.691C>T n.399C>T c.7057C>T (p.Pro2353Ser) c.7318C>T (p.Pro2440Ser) c.7330C>T (p.Pro2444Ser) c.5455C>T (p.Pro1819Ser)
6	g.129464359del	CA2578756790	LAMA2	c.7062del (p.Ile2355PhefsTer23) c.7326del (p.Ile2443PhefsTer23) n.693del n.401del c.7059del (p.Ile2354PhefsTer23) c.7320del (p.Ile2441PhefsTer23) c.7332del (p.Ile2445PhefsTer23) c.5457del (p.Ile1820PhefsTer23)
6	g.129464358C>A	CA365620410	LAMA2	c.7061C>A (p.Pro2354His) c.7325C>A (p.Pro2442His) n.692C>A n.400C>A c.7058C>A (p.Pro2353His) c.7319C>A (p.Pro2440His) c.7331C>A (p.Pro2444His) c.5456C>A (p.Pro1819His)
6	g.129464358C>G	CA365620407	LAMA2	c.7061C>G (p.Pro2354Arg) c.7325C>G (p.Pro2442Arg) n.692C>G n.400C>G c.7058C>G (p.Pro2353Arg) c.7319C>G (p.Pro2440Arg) c.7331C>G (p.Pro2444Arg) c.5456C>G (p.Pro1819Arg)
6	g.129464358C>T	CA365620409	LAMA2	c.7061C>T (p.Pro2354Leu) c.7325C>T (p.Pro2442Leu) n.692C>T n.400C>T c.7058C>T (p.Pro2353Leu) c.7319C>T (p.Pro2440Leu) c.7331C>T (p.Pro2444Leu) c.5456C>T (p.Pro1819Leu)
6	g.129464359C>A	CA451925925	LAMA2	c.7062C>A (p.Pro2354=) c.7326C>A (p.Pro2442=) n.693C>A n.401C>A c.7059C>A (p.Pro2353=) c.7320C>A (p.Pro2440=) c.7332C>A (p.Pro2444=) c.5457C>A (p.Pro1819=)
6	g.129464359C>G	CA451925926	LAMA2	c.7062C>G (p.Pro2354=) c.7326C>G (p.Pro2442=) n.693C>G n.401C>G c.7059C>G (p.Pro2353=) c.7320C>G (p.Pro2440=) c.7332C>G (p.Pro2444=) c.5457C>G (p.Pro1819=)
6	g.129464359C>T	CA451925928	LAMA2	c.7062C>T (p.Pro2354=) c.7326C>T (p.Pro2442=) n.693C>T n.401C>T c.7059C>T (p.Pro2353=) c.7320C>T (p.Pro2440=) c.7332C>T (p.Pro2444=) c.5457C>T (p.Pro1819=)	ClinVar gnomAD v4
6	g.129464360A>C	CA365620411	LAMA2	c.7063A>C (p.Ile2355Leu) c.7327A>C (p.Ile2443Leu) n.694A>C n.402A>C c.7060A>C (p.Ile2354Leu) c.7321A>C (p.Ile2441Leu) c.7333A>C (p.Ile2445Leu) c.5458A>C (p.Ile1820Leu)
6	g.129464360A>G	CA365620412	LAMA2	c.7063A>G (p.Ile2355Val) c.7327A>G (p.Ile2443Val) n.694A>G n.402A>G c.7060A>G (p.Ile2354Val) c.7321A>G (p.Ile2441Val) c.7333A>G (p.Ile2445Val) c.5458A>G (p.Ile1820Val)	gnomAD v4
6	g.129464360A>T	CA365620413	LAMA2	c.7063A>T (p.Ile2355Phe) c.7327A>T (p.Ile2443Phe) n.694A>T n.402A>T c.7060A>T (p.Ile2354Phe) c.7321A>T (p.Ile2441Phe) c.7333A>T (p.Ile2445Phe) c.5458A>T (p.Ile1820Phe)
6	g.129464361T>A	CA365620416	LAMA2	c.7064T>A (p.Ile2355Asn) c.7328T>A (p.Ile2443Asn) n.695T>A n.403T>A c.7061T>A (p.Ile2354Asn) c.7322T>A (p.Ile2441Asn) c.7334T>A (p.Ile2445Asn) c.5459T>A (p.Ile1820Asn)
6	g.129464361T>C	CA365620418	LAMA2	c.7064T>C (p.Ile2355Thr) c.7328T>C (p.Ile2443Thr) n.695T>C n.403T>C c.7061T>C (p.Ile2354Thr) c.7322T>C (p.Ile2441Thr) c.7334T>C (p.Ile2445Thr) c.5459T>C (p.Ile1820Thr)	dbSNP gnomAD v2
6	g.129464361T>G	CA365620420	LAMA2	c.7064T>G (p.Ile2355Ser) c.7328T>G (p.Ile2443Ser) n.695T>G n.403T>G c.7061T>G (p.Ile2354Ser) c.7322T>G (p.Ile2441Ser) c.7334T>G (p.Ile2445Ser) c.5459T>G (p.Ile1820Ser)
6	g.129464361T=	CA1663191540	LAMA2	c.7064T= (p.Ile2355=) c.7328T= (p.Ile2443=) n.695T= n.403T= c.7061T= (p.Ile2354=) c.7322T= (p.Ile2441=) c.7334T= (p.Ile2445=) c.5459T= (p.Ile1820=)
6	g.129464362T>A	CA451925933	LAMA2	c.7065T>A (p.Ile2355=) c.7329T>A (p.Ile2443=) n.696T>A n.404T>A c.7062T>A (p.Ile2354=) c.7323T>A (p.Ile2441=) c.7335T>A (p.Ile2445=) c.5460T>A (p.Ile1820=)
6	g.129464362T>C	CA451925936	LAMA2	c.7065T>C (p.Ile2355=) c.7329T>C (p.Ile2443=) n.696T>C n.404T>C c.7062T>C (p.Ile2354=) c.7323T>C (p.Ile2441=) c.7335T>C (p.Ile2445=) c.5460T>C (p.Ile1820=)
6	g.129464362T>G	CA365620423	LAMA2	c.7065T>G (p.Ile2355Met) c.7329T>G (p.Ile2443Met) n.696T>G n.404T>G c.7062T>G (p.Ile2354Met) c.7323T>G (p.Ile2441Met) c.7335T>G (p.Ile2445Met) c.5460T>G (p.Ile1820Met)
6	g.129464363C>A	CA365620427	LAMA2	c.7066C>A (p.Arg2356Ser) c.7330C>A (p.Arg2444Ser) n.697C>A n.405C>A c.7063C>A (p.Arg2355Ser) c.7324C>A (p.Arg2442Ser) c.7336C>A (p.Arg2446Ser) c.5461C>A (p.Arg1821Ser)	dbSNP
6	g.129464363C=	CA1663191542	LAMA2	c.7066C= (p.Arg2356=) c.7330C= (p.Arg2444=) n.697C= n.405C= c.7063C= (p.Arg2355=) c.7324C= (p.Arg2442=) c.7336C= (p.Arg2446=) c.5461C= (p.Arg1821=)
6	g.129464363C>G	CA365620428	LAMA2	c.7066C>G (p.Arg2356Gly) c.7330C>G (p.Arg2444Gly) n.697C>G n.405C>G c.7063C>G (p.Arg2355Gly) c.7324C>G (p.Arg2442Gly) c.7336C>G (p.Arg2446Gly) c.5461C>G (p.Arg1821Gly)
6	g.129464363C>T	CA3994430	LAMA2	c.7066C>T (p.Arg2356Cys) c.7330C>T (p.Arg2444Cys) n.697C>T n.405C>T c.7063C>T (p.Arg2355Cys) c.7324C>T (p.Arg2442Cys) c.7336C>T (p.Arg2446Cys) c.5461C>T (p.Arg1821Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
6	g.129464364G>A	CA3994431	LAMA2	c.7067G>A (p.Arg2356His) c.7331G>A (p.Arg2444His) n.698G>A n.406G>A c.7064G>A (p.Arg2355His) c.7325G>A (p.Arg2442His) c.7337G>A (p.Arg2446His) c.5462G>A (p.Arg1821His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6	g.129464364G>C	CA365620437	LAMA2	c.7067G>C (p.Arg2356Pro) c.7331G>C (p.Arg2444Pro) n.698G>C n.406G>C c.7064G>C (p.Arg2355Pro) c.7325G>C (p.Arg2442Pro) c.7337G>C (p.Arg2446Pro) c.5462G>C (p.Arg1821Pro)
6	g.129464364G=	CA1663191545	LAMA2	c.7067G= (p.Arg2356=) c.7331G= (p.Arg2444=) n.698G= n.406G= c.7064G= (p.Arg2355=) c.7325G= (p.Arg2442=) c.7337G= (p.Arg2446=) c.5462G= (p.Arg1821=)
6	g.129464364G>T	CA365620444	LAMA2	c.7067G>T (p.Arg2356Leu) c.7331G>T (p.Arg2444Leu) n.698G>T n.406G>T c.7064G>T (p.Arg2355Leu) c.7325G>T (p.Arg2442Leu) c.7337G>T (p.Arg2446Leu) c.5462G>T (p.Arg1821Leu)
6	g.129464365C>A	CA451925937	LAMA2	c.7068C>A (p.Arg2356=) c.7332C>A (p.Arg2444=) n.699C>A n.407C>A c.7065C>A (p.Arg2355=) c.7326C>A (p.Arg2442=) c.7338C>A (p.Arg2446=) c.5463C>A (p.Arg1821=)
6	g.129464365C>G	CA451925938	LAMA2	c.7068C>G (p.Arg2356=) c.7332C>G (p.Arg2444=) n.699C>G n.407C>G c.7065C>G (p.Arg2355=) c.7326C>G (p.Arg2442=) c.7338C>G (p.Arg2446=) c.5463C>G (p.Arg1821=)
6	g.129464365C>T	CA451925939	LAMA2	c.7068C>T (p.Arg2356=) c.7332C>T (p.Arg2444=) n.699C>T n.407C>T c.7065C>T (p.Arg2355=) c.7326C>T (p.Arg2442=) c.7338C>T (p.Arg2446=) c.5463C>T (p.Arg1821=)	ClinVar dbSNP COSMIC
6	g.129464366T>A	CA365620448	LAMA2	c.7069T>A (p.Trp2357Arg) c.7333T>A (p.Trp2445Arg) n.700T>A n.408T>A c.7066T>A (p.Trp2356Arg) c.7327T>A (p.Trp2443Arg) c.7339T>A (p.Trp2447Arg) c.5464T>A (p.Trp1822Arg)
6	g.129464366T>C	CA3994432	LAMA2	c.7069T>C (p.Trp2357Arg) c.7333T>C (p.Trp2445Arg) n.700T>C n.408T>C c.7066T>C (p.Trp2356Arg) c.7327T>C (p.Trp2443Arg) c.7339T>C (p.Trp2447Arg) c.5464T>C (p.Trp1822Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.129464366T>G	CA365620455	LAMA2	c.7069T>G (p.Trp2357Gly) c.7333T>G (p.Trp2445Gly) n.700T>G n.408T>G c.7066T>G (p.Trp2356Gly) c.7327T>G (p.Trp2443Gly) c.7339T>G (p.Trp2447Gly) c.5464T>G (p.Trp1822Gly)	dbSNP gnomAD v2 gnomAD v4
6	g.129464366T=	CA1663191548	LAMA2	c.7069T= (p.Trp2357=) c.7333T= (p.Trp2445=) n.700T= n.408T= c.7066T= (p.Trp2356=) c.7327T= (p.Trp2443=) c.7339T= (p.Trp2447=) c.5464T= (p.Trp1822=)
6	g.129464367G>A	CA3994434	LAMA2	c.7070G>A (p.Trp2357Ter) c.7334G>A (p.Trp2445Ter) n.701G>A n.409G>A c.7067G>A (p.Trp2356Ter) c.7328G>A (p.Trp2443Ter) c.7340G>A (p.Trp2447Ter) c.5465G>A (p.Trp1822Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6	g.129464367G>C	CA365620461	LAMA2	c.7070G>C (p.Trp2357Ser) c.7334G>C (p.Trp2445Ser) n.701G>C n.409G>C c.7067G>C (p.Trp2356Ser) c.7328G>C (p.Trp2443Ser) c.7340G>C (p.Trp2447Ser) c.5465G>C (p.Trp1822Ser)
6	g.129464367G=	CA1663191553	LAMA2	c.7070G= (p.Trp2357=) c.7334G= (p.Trp2445=) n.701G= n.409G= c.7067G= (p.Trp2356=) c.7328G= (p.Trp2443=) c.7340G= (p.Trp2447=) c.5465G= (p.Trp1822=)
6	g.129464367G>T	CA3994433	LAMA2	c.7070G>T (p.Trp2357Leu) c.7334G>T (p.Trp2445Leu) n.701G>T n.409G>T c.7067G>T (p.Trp2356Leu) c.7328G>T (p.Trp2443Leu) c.7340G>T (p.Trp2447Leu) c.5465G>T (p.Trp1822Leu)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
6	g.129464368G>A	CA365620472	LAMA2	c.7071G>A (p.Trp2357Ter) c.7335G>A (p.Trp2445Ter) n.702G>A n.410G>A c.7068G>A (p.Trp2356Ter) c.7329G>A (p.Trp2443Ter) c.7341G>A (p.Trp2447Ter) c.5466G>A (p.Trp1822Ter)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.129464368G>C	CA365620475	LAMA2	c.7071G>C (p.Trp2357Cys) c.7335G>C (p.Trp2445Cys) n.702G>C n.410G>C c.7068G>C (p.Trp2356Cys) c.7329G>C (p.Trp2443Cys) c.7341G>C (p.Trp2447Cys) c.5466G>C (p.Trp1822Cys)
6	g.129464368G=	CA1663191557	LAMA2	c.7071G= (p.Trp2357=) c.7335G= (p.Trp2445=) n.702G= n.410G= c.7068G= (p.Trp2356=) c.7329G= (p.Trp2443=) c.7341G= (p.Trp2447=) c.5466G= (p.Trp1822=)
6	g.129464368G>T	CA365620479	LAMA2	c.7071G>T (p.Trp2357Cys) c.7335G>T (p.Trp2445Cys) n.702G>T n.410G>T c.7068G>T (p.Trp2356Cys) c.7329G>T (p.Trp2443Cys) c.7341G>T (p.Trp2447Cys) c.5466G>T (p.Trp1822Cys)	ClinVar
6	g.129464369T>A	CA365620494	LAMA2	c.7072T>A (p.Tyr2358Asn) c.7336T>A (p.Tyr2446Asn) n.703T>A n.411T>A c.7069T>A (p.Tyr2357Asn) c.7330T>A (p.Tyr2444Asn) c.7342T>A (p.Tyr2448Asn) c.5467T>A (p.Tyr1823Asn)
6	g.129464369T>C	CA365620483	LAMA2	c.7072T>C (p.Tyr2358His) c.7336T>C (p.Tyr2446His) n.703T>C n.411T>C c.7069T>C (p.Tyr2357His) c.7330T>C (p.Tyr2444His) c.7342T>C (p.Tyr2448His) c.5467T>C (p.Tyr1823His)
6	g.129464369T>G	CA365620490	LAMA2	c.7072T>G (p.Tyr2358Asp) c.7336T>G (p.Tyr2446Asp) n.703T>G n.411T>G c.7069T>G (p.Tyr2357Asp) c.7330T>G (p.Tyr2444Asp) c.7342T>G (p.Tyr2448Asp) c.5467T>G (p.Tyr1823Asp)
6	g.129464370A=	CA1663191563	LAMA2	c.7073A= (p.Tyr2358=) c.7337A= (p.Tyr2446=) n.704A= n.412A= c.7070A= (p.Tyr2357=) c.7331A= (p.Tyr2444=) c.7343A= (p.Tyr2448=) c.5468A= (p.Tyr1823=)
6	g.129464370A>C	CA365620498	LAMA2	c.7073A>C (p.Tyr2358Ser) c.7337A>C (p.Tyr2446Ser) n.704A>C n.412A>C c.7070A>C (p.Tyr2357Ser) c.7331A>C (p.Tyr2444Ser) c.7343A>C (p.Tyr2448Ser) c.5468A>C (p.Tyr1823Ser)
6	g.129464370A>G	CA3994435	LAMA2	c.7073A>G (p.Tyr2358Cys) c.7337A>G (p.Tyr2446Cys) n.704A>G n.412A>G c.7070A>G (p.Tyr2357Cys) c.7331A>G (p.Tyr2444Cys) c.7343A>G (p.Tyr2448Cys) c.5468A>G (p.Tyr1823Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.129464370A>T	CA365620502	LAMA2	c.7073A>T (p.Tyr2358Phe) c.7337A>T (p.Tyr2446Phe) n.704A>T n.412A>T c.7070A>T (p.Tyr2357Phe) c.7331A>T (p.Tyr2444Phe) c.7343A>T (p.Tyr2448Phe) c.5468A>T (p.Tyr1823Phe)
6	g.129464371C>A	CA3994436	LAMA2	c.7074C>A (p.Tyr2358Ter) c.7338C>A (p.Tyr2446Ter) n.705C>A n.413C>A c.7071C>A (p.Tyr2357Ter) c.7332C>A (p.Tyr2444Ter) c.7344C>A (p.Tyr2448Ter) c.5469C>A (p.Tyr1823Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.129464371C=	CA1663191568	LAMA2	c.7074C= (p.Tyr2358=) c.7338C= (p.Tyr2446=) n.705C= n.413C= c.7071C= (p.Tyr2357=) c.7332C= (p.Tyr2444=) c.7344C= (p.Tyr2448=) c.5469C= (p.Tyr1823=)
6	g.129464371C>G	CA365620508	LAMA2	c.7074C>G (p.Tyr2358Ter) c.7338C>G (p.Tyr2446Ter) n.705C>G n.413C>G c.7071C>G (p.Tyr2357Ter) c.7332C>G (p.Tyr2444Ter) c.7344C>G (p.Tyr2448Ter) c.5469C>G (p.Tyr1823Ter)
6	g.129464371C>T	CA451925946	LAMA2	c.7074C>T (p.Tyr2358=) c.7338C>T (p.Tyr2446=) n.705C>T n.413C>T c.7071C>T (p.Tyr2357=) c.7332C>T (p.Tyr2444=) c.7344C>T (p.Tyr2448=) c.5469C>T (p.Tyr1823=)	gnomAD v4
6	g.129464374dup	CA2695206952	LAMA2	c.7077dup (p.Asn2360GlnfsTer?) c.7341dup (p.Asn2448GlnfsTer?) n.708dup n.416dup c.7074dup (p.Asn2359GlnfsTer?) c.7335dup (p.Asn2446GlnfsTer?) c.7347dup (p.Asn2450GlnfsTer?) c.5472dup (p.Asn1825GlnfsTer?)
6	g.129464373_129464374del	CA2713030609	LAMA2	c.7076_7077del (p.Pro2359GlnfsTer?) c.7340_7341del (p.Pro2447GlnfsTer?) n.707_708del n.415_416del c.7073_7074del (p.Pro2358GlnfsTer?) c.7334_7335del (p.Pro2445GlnfsTer?) c.7346_7347del (p.Pro2449GlnfsTer?) c.5471_5472del (p.Pro1824GlnfsTer?)	dbSNP
6	g.129464372C>A	CA365620514	LAMA2	c.7075C>A (p.Pro2359Thr) c.7339C>A (p.Pro2447Thr) n.706C>A n.414C>A c.7072C>A (p.Pro2358Thr) c.7333C>A (p.Pro2445Thr) c.7345C>A (p.Pro2449Thr) c.5470C>A (p.Pro1824Thr)
6	g.129464372C=	CA1663191573	LAMA2	c.7075C= (p.Pro2359=) c.7339C= (p.Pro2447=) n.706C= n.414C= c.7072C= (p.Pro2358=) c.7333C= (p.Pro2445=) c.7345C= (p.Pro2449=) c.5470C= (p.Pro1824=)
6	g.129464372C>G	CA365620518	LAMA2	c.7075C>G (p.Pro2359Ala) c.7339C>G (p.Pro2447Ala) n.706C>G n.414C>G c.7072C>G (p.Pro2358Ala) c.7333C>G (p.Pro2445Ala) c.7345C>G (p.Pro2449Ala) c.5470C>G (p.Pro1824Ala)	gnomAD v4
6	g.129464372C>T	CA3994437	LAMA2	c.7075C>T (p.Pro2359Ser) c.7339C>T (p.Pro2447Ser) n.706C>T n.414C>T c.7072C>T (p.Pro2358Ser) c.7333C>T (p.Pro2445Ser) c.7345C>T (p.Pro2449Ser) c.5470C>T (p.Pro1824Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.129464373C>A	CA365620521	LAMA2	c.7076C>A (p.Pro2359His) c.7340C>A (p.Pro2447His) n.707C>A n.415C>A c.7073C>A (p.Pro2358His) c.7334C>A (p.Pro2445His) c.7346C>A (p.Pro2449His) c.5471C>A (p.Pro1824His)
6	g.129464373C>G	CA365620525	LAMA2	c.7076C>G (p.Pro2359Arg) c.7340C>G (p.Pro2447Arg) n.707C>G n.415C>G c.7073C>G (p.Pro2358Arg) c.7334C>G (p.Pro2445Arg) c.7346C>G (p.Pro2449Arg) c.5471C>G (p.Pro1824Arg)
6	g.129464373C>T	CA365620527	LAMA2	c.7076C>T (p.Pro2359Leu) c.7340C>T (p.Pro2447Leu) n.707C>T n.415C>T c.7073C>T (p.Pro2358Leu) c.7334C>T (p.Pro2445Leu) c.7346C>T (p.Pro2449Leu) c.5471C>T (p.Pro1824Leu)
6	g.129464374C>A	CA451925949	LAMA2	c.7077C>A (p.Pro2359=) c.7341C>A (p.Pro2447=) n.708C>A n.416C>A c.7074C>A (p.Pro2358=) c.7335C>A (p.Pro2445=) c.7347C>A (p.Pro2449=) c.5472C>A (p.Pro1824=)
6	g.129464374C>G	CA451925951	LAMA2	c.7077C>G (p.Pro2359=) c.7341C>G (p.Pro2447=) n.708C>G n.416C>G c.7074C>G (p.Pro2358=) c.7335C>G (p.Pro2445=) c.7347C>G (p.Pro2449=) c.5472C>G (p.Pro1824=)
6	g.129464374C>T	CA451925950	LAMA2	c.7077C>T (p.Pro2359=) c.7341C>T (p.Pro2447=) n.708C>T n.416C>T c.7074C>T (p.Pro2358=) c.7335C>T (p.Pro2445=) c.7347C>T (p.Pro2449=) c.5472C>T (p.Pro1824=)
6	g.129464375A>C	CA365620531	LAMA2	c.7078A>C (p.Asn2360His) c.7342A>C (p.Asn2448His) n.709A>C n.417A>C c.7075A>C (p.Asn2359His) c.7336A>C (p.Asn2446His) c.7348A>C (p.Asn2450His) c.5473A>C (p.Asn1825His)
6	g.129464375A>G	CA365620541	LAMA2	c.7078A>G (p.Asn2360Asp) c.7342A>G (p.Asn2448Asp) n.709A>G n.417A>G c.7075A>G (p.Asn2359Asp) c.7336A>G (p.Asn2446Asp) c.7348A>G (p.Asn2450Asp) c.5473A>G (p.Asn1825Asp)
6	g.129464375A>T	CA365620544	LAMA2	c.7078A>T (p.Asn2360Tyr) c.7342A>T (p.Asn2448Tyr) n.709A>T n.417A>T c.7075A>T (p.Asn2359Tyr) c.7336A>T (p.Asn2446Tyr) c.7348A>T (p.Asn2450Tyr) c.5473A>T (p.Asn1825Tyr)
6	g.129464376A=	CA1663191577	LAMA2	c.7079A= (p.Asn2360=) c.7343A= (p.Asn2448=) n.710A= n.418A= c.7076A= (p.Asn2359=) c.7337A= (p.Asn2446=) c.7349A= (p.Asn2450=) c.5474A= (p.Asn1825=)
6	g.129464376A>C	CA365620547	LAMA2	c.7079A>C (p.Asn2360Thr) c.7343A>C (p.Asn2448Thr) n.710A>C n.418A>C c.7076A>C (p.Asn2359Thr) c.7337A>C (p.Asn2446Thr) c.7349A>C (p.Asn2450Thr) c.5474A>C (p.Asn1825Thr)	gnomAD v4
6	g.129464376A>G	CA365620548	LAMA2	c.7079A>G (p.Asn2360Ser) c.7343A>G (p.Asn2448Ser) n.710A>G n.418A>G c.7076A>G (p.Asn2359Ser) c.7337A>G (p.Asn2446Ser) c.7349A>G (p.Asn2450Ser) c.5474A>G (p.Asn1825Ser)	dbSNP gnomAD v4
6	g.129464376A>T	CA365620549	LAMA2	c.7079A>T (p.Asn2360Ile) c.7343A>T (p.Asn2448Ile) n.710A>T n.418A>T c.7076A>T (p.Asn2359Ile) c.7337A>T (p.Asn2446Ile) c.7349A>T (p.Asn2450Ile) c.5474A>T (p.Asn1825Ile)	gnomAD v4
6	g.129464377C>A	CA365620550	LAMA2	c.7080C>A (p.Asn2360Lys) c.7344C>A (p.Asn2448Lys) n.711C>A n.419C>A c.7077C>A (p.Asn2359Lys) c.7338C>A (p.Asn2446Lys) c.7350C>A (p.Asn2450Lys) c.5475C>A (p.Asn1825Lys)
6	g.129464377C>G	CA365620551	LAMA2	c.7080C>G (p.Asn2360Lys) c.7344C>G (p.Asn2448Lys) n.711C>G n.419C>G c.7077C>G (p.Asn2359Lys) c.7338C>G (p.Asn2446Lys) c.7350C>G (p.Asn2450Lys) c.5475C>G (p.Asn1825Lys)
6	g.129464377C>T	CA451925957	LAMA2	c.7080C>T (p.Asn2360=) c.7344C>T (p.Asn2448=) n.711C>T n.419C>T c.7077C>T (p.Asn2359=) c.7338C>T (p.Asn2446=) c.7350C>T (p.Asn2450=) c.5475C>T (p.Asn1825=)
6	g.129464378A>C	CA365620556	LAMA2	c.7081A>C (p.Ile2361Leu) c.7345A>C (p.Ile2449Leu) n.712A>C n.420A>C c.7078A>C (p.Ile2360Leu) c.7339A>C (p.Ile2447Leu) c.7351A>C (p.Ile2451Leu) c.5476A>C (p.Ile1826Leu)
6	g.129464378A>G	CA365620559	LAMA2	c.7081A>G (p.Ile2361Val) c.7345A>G (p.Ile2449Val) n.712A>G n.420A>G c.7078A>G (p.Ile2360Val) c.7339A>G (p.Ile2447Val) c.7351A>G (p.Ile2451Val) c.5476A>G (p.Ile1826Val)
6	g.129464378A>T	CA365620554	LAMA2	c.7081A>T (p.Ile2361Phe) c.7345A>T (p.Ile2449Phe) n.712A>T n.420A>T c.7078A>T (p.Ile2360Phe) c.7339A>T (p.Ile2447Phe) c.7351A>T (p.Ile2451Phe) c.5476A>T (p.Ile1826Phe)
6	g.129464379T>A	CA365620562	LAMA2	c.7082T>A (p.Ile2361Asn) c.7346T>A (p.Ile2449Asn) n.713T>A n.421T>A c.7079T>A (p.Ile2360Asn) c.7340T>A (p.Ile2447Asn) c.7352T>A (p.Ile2451Asn) c.5477T>A (p.Ile1826Asn)
6	g.129464379T>C	CA365620565	LAMA2	c.7082T>C (p.Ile2361Thr) c.7346T>C (p.Ile2449Thr) n.713T>C n.421T>C c.7079T>C (p.Ile2360Thr) c.7340T>C (p.Ile2447Thr) c.7352T>C (p.Ile2451Thr) c.5477T>C (p.Ile1826Thr)
6	g.129464379T>G	CA365620568	LAMA2	c.7082T>G (p.Ile2361Ser) c.7346T>G (p.Ile2449Ser) n.713T>G n.421T>G c.7079T>G (p.Ile2360Ser) c.7340T>G (p.Ile2447Ser) c.7352T>G (p.Ile2451Ser) c.5477T>G (p.Ile1826Ser)
6	g.129464380C>A	CA451925960	LAMA2	c.7083C>A (p.Ile2361=) c.7347C>A (p.Ile2449=) n.714C>A n.422C>A c.7080C>A (p.Ile2360=) c.7341C>A (p.Ile2447=) c.7353C>A (p.Ile2451=) c.5478C>A (p.Ile1826=)
6	g.129464380C>G	CA365620572	LAMA2	c.7083C>G (p.Ile2361Met) c.7347C>G (p.Ile2449Met) n.714C>G n.422C>G c.7080C>G (p.Ile2360Met) c.7341C>G (p.Ile2447Met) c.7353C>G (p.Ile2451Met) c.5478C>G (p.Ile1826Met)
6	g.129464380C>T	CA451925962	LAMA2	c.7083C>T (p.Ile2361=) c.7347C>T (p.Ile2449=) n.714C>T n.422C>T c.7080C>T (p.Ile2360=) c.7341C>T (p.Ile2447=) c.7353C>T (p.Ile2451=) c.5478C>T (p.Ile1826=)
6	g.129464381_129464383del	CA2578756791	LAMA2	c.7084_7086del (p.Ser2362del) c.7348_7350del (p.Ser2450del) n.715_717del n.423_425del c.7081_7083del (p.Ser2361del) c.7342_7344del (p.Ser2448del) c.7354_7356del (p.Ser2452del) c.5479_5481del (p.Ser1827del)
6	g.129464381T>A	CA365620575	LAMA2	c.7084T>A (p.Ser2362Thr) c.7348T>A (p.Ser2450Thr) n.715T>A n.423T>A c.7081T>A (p.Ser2361Thr) c.7342T>A (p.Ser2448Thr) c.7354T>A (p.Ser2452Thr) c.5479T>A (p.Ser1827Thr)
6	g.129464381T>C	CA365620584	LAMA2	c.7084T>C (p.Ser2362Pro) c.7348T>C (p.Ser2450Pro) n.715T>C n.423T>C c.7081T>C (p.Ser2361Pro) c.7342T>C (p.Ser2448Pro) c.7354T>C (p.Ser2452Pro) c.5479T>C (p.Ser1827Pro)
6	g.129464381T>G	CA365620585	LAMA2	c.7084T>G (p.Ser2362Ala) c.7348T>G (p.Ser2450Ala) n.715T>G n.423T>G c.7081T>G (p.Ser2361Ala) c.7342T>G (p.Ser2448Ala) c.7354T>G (p.Ser2452Ala) c.5479T>G (p.Ser1827Ala)
6	g.129464382C>A	CA365620588	LAMA2	c.7085C>A (p.Ser2362Tyr) c.7349C>A (p.Ser2450Tyr) n.716C>A n.424C>A c.7082C>A (p.Ser2361Tyr) c.7343C>A (p.Ser2448Tyr) c.7355C>A (p.Ser2452Tyr) c.5480C>A (p.Ser1827Tyr)	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.129464382C=	CA1663191582	LAMA2	c.7085C= (p.Ser2362=) c.7349C= (p.Ser2450=) n.716C= n.424C= c.7082C= (p.Ser2361=) c.7343C= (p.Ser2448=) c.7355C= (p.Ser2452=) c.5480C= (p.Ser1827=)
6	g.129464382C>G	CA365620591	LAMA2	c.7085C>G (p.Ser2362Cys) c.7349C>G (p.Ser2450Cys) n.716C>G n.424C>G c.7082C>G (p.Ser2361Cys) c.7343C>G (p.Ser2448Cys) c.7355C>G (p.Ser2452Cys) c.5480C>G (p.Ser1827Cys)	gnomAD v4 COSMIC
6	g.129464382C>T	CA365620595	LAMA2	c.7085C>T (p.Ser2362Phe) c.7349C>T (p.Ser2450Phe) n.716C>T n.424C>T c.7082C>T (p.Ser2361Phe) c.7343C>T (p.Ser2448Phe) c.7355C>T (p.Ser2452Phe) c.5480C>T (p.Ser1827Phe)
6	g.129464383C>A	CA451925964	LAMA2	c.7086C>A (p.Ser2362=) c.7350C>A (p.Ser2450=) n.717C>A n.425C>A c.7083C>A (p.Ser2361=) c.7344C>A (p.Ser2448=) c.7356C>A (p.Ser2452=) c.5481C>A (p.Ser1827=)
6	g.129464383C>G	CA451925965	LAMA2	c.7086C>G (p.Ser2362=) c.7350C>G (p.Ser2450=) n.717C>G n.425C>G c.7083C>G (p.Ser2361=) c.7344C>G (p.Ser2448=) c.7356C>G (p.Ser2452=) c.5481C>G (p.Ser1827=)
6	g.129464383C>T	CA451925966	LAMA2	c.7086C>T (p.Ser2362=) c.7350C>T (p.Ser2450=) n.717C>T n.425C>T c.7083C>T (p.Ser2361=) c.7344C>T (p.Ser2448=) c.7356C>T (p.Ser2452=) c.5481C>T (p.Ser1827=)
6	g.129464384A>C	CA365620598	LAMA2	c.7087A>C (p.Thr2363Pro) c.7351A>C (p.Thr2451Pro) n.718A>C n.426A>C c.7084A>C (p.Thr2362Pro) c.7345A>C (p.Thr2449Pro) c.7357A>C (p.Thr2453Pro) c.5482A>C (p.Thr1828Pro)	gnomAD v4
6	g.129464384A>G	CA365620605	LAMA2	c.7087A>G (p.Thr2363Ala) c.7351A>G (p.Thr2451Ala) n.718A>G n.426A>G c.7084A>G (p.Thr2362Ala) c.7345A>G (p.Thr2449Ala) c.7357A>G (p.Thr2453Ala) c.5482A>G (p.Thr1828Ala)
6	g.129464384A>T	CA365620610	LAMA2	c.7087A>T (p.Thr2363Ser) c.7351A>T (p.Thr2451Ser) n.718A>T n.426A>T c.7084A>T (p.Thr2362Ser) c.7345A>T (p.Thr2449Ser) c.7357A>T (p.Thr2453Ser) c.5482A>T (p.Thr1828Ser)	gnomAD v4
6	g.129464385C>A	CA365620620	LAMA2	c.7088C>A (p.Thr2363Asn) c.7352C>A (p.Thr2451Asn) n.719C>A n.427C>A c.7085C>A (p.Thr2362Asn) c.7346C>A (p.Thr2449Asn) c.7358C>A (p.Thr2453Asn) c.5483C>A (p.Thr1828Asn)
6	g.129464385C=	CA1663191589	LAMA2	c.7088C= (p.Thr2363=) c.7352C= (p.Thr2451=) n.719C= n.427C= c.7085C= (p.Thr2362=) c.7346C= (p.Thr2449=) c.7358C= (p.Thr2453=) c.5483C= (p.Thr1828=)
6	g.129464385C>G	CA365620618	LAMA2	c.7088C>G (p.Thr2363Ser) c.7352C>G (p.Thr2451Ser) n.719C>G n.427C>G c.7085C>G (p.Thr2362Ser) c.7346C>G (p.Thr2449Ser) c.7358C>G (p.Thr2453Ser) c.5483C>G (p.Thr1828Ser)
6	g.129464385C>T	CA3994438	LAMA2	c.7088C>T (p.Thr2363Ile) c.7352C>T (p.Thr2451Ile) n.719C>T n.427C>T c.7085C>T (p.Thr2362Ile) c.7346C>T (p.Thr2449Ile) c.7358C>T (p.Thr2453Ile) c.5483C>T (p.Thr1828Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.129464386T>A	CA451925971	LAMA2	c.7089T>A (p.Thr2363=) c.7353T>A (p.Thr2451=) n.720T>A n.428T>A c.7086T>A (p.Thr2362=) c.7347T>A (p.Thr2449=) c.7359T>A (p.Thr2453=) c.5484T>A (p.Thr1828=)
6	g.129464386T>C	CA451925972	LAMA2	c.7089T>C (p.Thr2363=) c.7353T>C (p.Thr2451=) n.720T>C n.428T>C c.7086T>C (p.Thr2362=) c.7347T>C (p.Thr2449=) c.7359T>C (p.Thr2453=) c.5484T>C (p.Thr1828=)
6	g.129464386T>G	CA451925973	LAMA2	c.7089T>G (p.Thr2363=) c.7353T>G (p.Thr2451=) n.720T>G n.428T>G c.7086T>G (p.Thr2362=) c.7347T>G (p.Thr2449=) c.7359T>G (p.Thr2453=) c.5484T>G (p.Thr1828=)
6	g.129464387G>A	CA3994439	LAMA2	c.7090G>A (p.Val2364Ile) c.7354G>A (p.Val2452Ile) n.721G>A n.429G>A c.7087G>A (p.Val2363Ile) c.7348G>A (p.Val2450Ile) c.7360G>A (p.Val2454Ile) c.5485G>A (p.Val1829Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.129464387G>C	CA365620633	LAMA2	c.7090G>C (p.Val2364Leu) c.7354G>C (p.Val2452Leu) n.721G>C n.429G>C c.7087G>C (p.Val2363Leu) c.7348G>C (p.Val2450Leu) c.7360G>C (p.Val2454Leu) c.5485G>C (p.Val1829Leu)
6	g.129464387G=	CA1663191594	LAMA2	c.7090G= (p.Val2364=) c.7354G= (p.Val2452=) n.721G= n.429G= c.7087G= (p.Val2363=) c.7348G= (p.Val2450=) c.7360G= (p.Val2454=) c.5485G= (p.Val1829=)
6	g.129464387G>T	CA365620635	LAMA2	c.7090G>T (p.Val2364Phe) c.7354G>T (p.Val2452Phe) n.721G>T n.429G>T c.7087G>T (p.Val2363Phe) c.7348G>T (p.Val2450Phe) c.7360G>T (p.Val2454Phe) c.5485G>T (p.Val1829Phe)
6	g.129464388T>A	CA365620639	LAMA2	c.7091T>A (p.Val2364Asp) c.7355T>A (p.Val2452Asp) n.722T>A n.430T>A c.7088T>A (p.Val2363Asp) c.7349T>A (p.Val2450Asp) c.7361T>A (p.Val2454Asp) c.5486T>A (p.Val1829Asp)	gnomAD v4
6	g.129464388T>C	CA365620641	LAMA2	c.7091T>C (p.Val2364Ala) c.7355T>C (p.Val2452Ala) n.722T>C n.430T>C c.7088T>C (p.Val2363Ala) c.7349T>C (p.Val2450Ala) c.7361T>C (p.Val2454Ala) c.5486T>C (p.Val1829Ala)
6	g.129464388T>G	CA365620642	LAMA2	c.7091T>G (p.Val2364Gly) c.7355T>G (p.Val2452Gly) n.722T>G n.430T>G c.7088T>G (p.Val2363Gly) c.7349T>G (p.Val2450Gly) c.7361T>G (p.Val2454Gly) c.5486T>G (p.Val1829Gly)
6	g.129464389C>A	CA451925977	LAMA2	c.7092C>A (p.Val2364=) c.7356C>A (p.Val2452=) n.723C>A n.431C>A c.7089C>A (p.Val2363=) c.7350C>A (p.Val2450=) c.7362C>A (p.Val2454=) c.5487C>A (p.Val1829=)
6	g.129464389C>G	CA451925978	LAMA2	c.7092C>G (p.Val2364=) c.7356C>G (p.Val2452=) n.723C>G n.431C>G c.7089C>G (p.Val2363=) c.7350C>G (p.Val2450=) c.7362C>G (p.Val2454=) c.5487C>G (p.Val1829=)
6	g.129464389C>T	CA451925979	LAMA2	c.7092C>T (p.Val2364=) c.7356C>T (p.Val2452=) n.723C>T n.431C>T c.7089C>T (p.Val2363=) c.7350C>T (p.Val2450=) c.7362C>T (p.Val2454=) c.5487C>T (p.Val1829=)
6	g.129464390A>C	CA365620644	LAMA2	c.7093A>C (p.Met2365Leu) c.7357A>C (p.Met2453Leu) n.724A>C n.432A>C c.7090A>C (p.Met2364Leu) c.7351A>C (p.Met2451Leu) c.7363A>C (p.Met2455Leu) c.5488A>C (p.Met1830Leu)
6	g.129464390A>G	CA365620647	LAMA2	c.7093A>G (p.Met2365Val) c.7357A>G (p.Met2453Val) n.724A>G n.432A>G c.7090A>G (p.Met2364Val) c.7351A>G (p.Met2451Val) c.7363A>G (p.Met2455Val) c.5488A>G (p.Met1830Val)
6	g.129464390A>T	CA365620650	LAMA2	c.7093A>T (p.Met2365Leu) c.7357A>T (p.Met2453Leu) n.724A>T n.432A>T c.7090A>T (p.Met2364Leu) c.7351A>T (p.Met2451Leu) c.7363A>T (p.Met2455Leu) c.5488A>T (p.Met1830Leu)
6	g.129464391T>A	CA365620651	LAMA2	c.7094T>A (p.Met2365Lys) c.7358T>A (p.Met2453Lys) n.725T>A n.433T>A c.7091T>A (p.Met2364Lys) c.7352T>A (p.Met2451Lys) c.7364T>A (p.Met2455Lys) c.5489T>A (p.Met1830Lys)	dbSNP
6	g.129464391T>C	CA365620653	LAMA2	c.7094T>C (p.Met2365Thr) c.7358T>C (p.Met2453Thr) n.725T>C n.433T>C c.7091T>C (p.Met2364Thr) c.7352T>C (p.Met2451Thr) c.7364T>C (p.Met2455Thr) c.5489T>C (p.Met1830Thr)	gnomAD v4
6	g.129464391T>G	CA365620655	LAMA2	c.7094T>G (p.Met2365Arg) c.7358T>G (p.Met2453Arg) n.725T>G n.433T>G c.7091T>G (p.Met2364Arg) c.7352T>G (p.Met2451Arg) c.7364T>G (p.Met2455Arg) c.5489T>G (p.Met1830Arg)
6	g.129464391T=	CA1663191596	LAMA2	c.7094T= (p.Met2365=) c.7358T= (p.Met2453=) n.725T= n.433T= c.7091T= (p.Met2364=) c.7352T= (p.Met2451=) c.7364T= (p.Met2455=) c.5489T= (p.Met1830=)
6	g.129464392G>A	CA365620658	LAMA2	c.7095G>A (p.Met2365Ile) c.7359G>A (p.Met2453Ile) n.726G>A n.434G>A c.7092G>A (p.Met2364Ile) c.7353G>A (p.Met2451Ile) c.7365G>A (p.Met2455Ile) c.5490G>A (p.Met1830Ile)
6	g.129464392G>C	CA365620660	LAMA2	c.7095G>C (p.Met2365Ile) c.7359G>C (p.Met2453Ile) n.726G>C n.434G>C c.7092G>C (p.Met2364Ile) c.7353G>C (p.Met2451Ile) c.7365G>C (p.Met2455Ile) c.5490G>C (p.Met1830Ile)
6	g.129464392G>T	CA365620670	LAMA2	c.7095G>T (p.Met2365Ile) c.7359G>T (p.Met2453Ile) n.726G>T n.434G>T c.7092G>T (p.Met2364Ile) c.7353G>T (p.Met2451Ile) c.7365G>T (p.Met2455Ile) c.5490G>T (p.Met1830Ile)
6	g.129464393T>A	CA365620675	LAMA2	c.7096T>A (p.Phe2366Ile) c.7360T>A (p.Phe2454Ile) n.727T>A n.435T>A c.7093T>A (p.Phe2365Ile) c.7354T>A (p.Phe2452Ile) c.7366T>A (p.Phe2456Ile) c.5491T>A (p.Phe1831Ile)
6	g.129464393T>C	CA365620676	LAMA2	c.7096T>C (p.Phe2366Leu) c.7360T>C (p.Phe2454Leu) n.727T>C n.435T>C c.7093T>C (p.Phe2365Leu) c.7354T>C (p.Phe2452Leu) c.7366T>C (p.Phe2456Leu) c.5491T>C (p.Phe1831Leu)
6	g.129464393T>G	CA365620673	LAMA2	c.7096T>G (p.Phe2366Val) c.7360T>G (p.Phe2454Val) n.727T>G n.435T>G c.7093T>G (p.Phe2365Val) c.7354T>G (p.Phe2452Val) c.7366T>G (p.Phe2456Val) c.5491T>G (p.Phe1831Val)
6	g.129464394T>A	CA365620680	LAMA2	c.7097T>A (p.Phe2366Tyr) c.7361T>A (p.Phe2454Tyr) n.728T>A n.436T>A c.7094T>A (p.Phe2365Tyr) c.7355T>A (p.Phe2452Tyr) c.7367T>A (p.Phe2456Tyr) c.5492T>A (p.Phe1831Tyr)
6	g.129464394T>C	CA365620681	LAMA2	c.7097T>C (p.Phe2366Ser) c.7361T>C (p.Phe2454Ser) n.728T>C n.436T>C c.7094T>C (p.Phe2365Ser) c.7355T>C (p.Phe2452Ser) c.7367T>C (p.Phe2456Ser) c.5492T>C (p.Phe1831Ser)
6	g.129464394T>G	CA365620683	LAMA2	c.7097T>G (p.Phe2366Cys) c.7361T>G (p.Phe2454Cys) n.728T>G n.436T>G c.7094T>G (p.Phe2365Cys) c.7355T>G (p.Phe2452Cys) c.7367T>G (p.Phe2456Cys) c.5492T>G (p.Phe1831Cys)	gnomAD v4
6	g.129464395C>A	CA365620686	LAMA2	c.7098C>A (p.Phe2366Leu) c.7362C>A (p.Phe2454Leu) n.729C>A n.437C>A c.7095C>A (p.Phe2365Leu) c.7356C>A (p.Phe2452Leu) c.7368C>A (p.Phe2456Leu) c.5493C>A (p.Phe1831Leu)
6	g.129464395C>G	CA365620691	LAMA2	c.7098C>G (p.Phe2366Leu) c.7362C>G (p.Phe2454Leu) n.729C>G n.437C>G c.7095C>G (p.Phe2365Leu) c.7356C>G (p.Phe2452Leu) c.7368C>G (p.Phe2456Leu) c.5493C>G (p.Phe1831Leu)
6	g.129464395C>T	CA451925985	LAMA2	c.7098C>T (p.Phe2366=) c.7362C>T (p.Phe2454=) n.729C>T n.437C>T c.7095C>T (p.Phe2365=) c.7356C>T (p.Phe2452=) c.7368C>T (p.Phe2456=) c.5493C>T (p.Phe1831=)
6	g.129464396A>C	CA365620694	LAMA2	c.7099A>C (p.Lys2367Gln) c.7363A>C (p.Lys2455Gln) n.730A>C n.438A>C c.7096A>C (p.Lys2366Gln) c.7357A>C (p.Lys2453Gln) c.7369A>C (p.Lys2457Gln) c.5494A>C (p.Lys1832Gln)
6	g.129464396A>G	CA365620697	LAMA2	c.7099A>G (p.Lys2367Glu) c.7363A>G (p.Lys2455Glu) n.730A>G n.438A>G c.7096A>G (p.Lys2366Glu) c.7357A>G (p.Lys2453Glu) c.7369A>G (p.Lys2457Glu) c.5494A>G (p.Lys1832Glu)
6	g.129464396A>T	CA365620699	LAMA2	c.7099A>T (p.Lys2367Ter) c.7363A>T (p.Lys2455Ter) n.730A>T n.438A>T c.7096A>T (p.Lys2366Ter) c.7357A>T (p.Lys2453Ter) c.7369A>T (p.Lys2457Ter) c.5494A>T (p.Lys1832Ter)
6	g.129464397A>C	CA365620703	LAMA2	c.7100A>C (p.Lys2367Thr) c.7364A>C (p.Lys2455Thr) n.731A>C n.439A>C c.7097A>C (p.Lys2366Thr) c.7358A>C (p.Lys2453Thr) c.7370A>C (p.Lys2457Thr) c.5495A>C (p.Lys1832Thr)
6	g.129464397A>G	CA365620704	LAMA2	c.7100A>G (p.Lys2367Arg) c.7364A>G (p.Lys2455Arg) n.731A>G n.439A>G c.7097A>G (p.Lys2366Arg) c.7358A>G (p.Lys2453Arg) c.7370A>G (p.Lys2457Arg) c.5495A>G (p.Lys1832Arg)
6	g.129464397A>T	CA365620709	LAMA2	c.7100A>T (p.Lys2367Met) c.7364A>T (p.Lys2455Met) n.731A>T n.439A>T c.7097A>T (p.Lys2366Met) c.7358A>T (p.Lys2453Met) c.7370A>T (p.Lys2457Met) c.5495A>T (p.Lys1832Met)
6	g.129464398G>A	CA451925988	LAMA2	c.7101G>A (p.Lys2367=) c.7365G>A (p.Lys2455=) n.732G>A n.440G>A c.7098G>A (p.Lys2366=) c.7359G>A (p.Lys2453=) c.7371G>A (p.Lys2457=) c.5496G>A (p.Lys1832=)	gnomAD v4
6	g.129464398G>C	CA365620711	LAMA2	c.7101G>C (p.Lys2367Asn) c.7365G>C (p.Lys2455Asn) n.732G>C n.440G>C c.7098G>C (p.Lys2366Asn) c.7359G>C (p.Lys2453Asn) c.7371G>C (p.Lys2457Asn) c.5496G>C (p.Lys1832Asn)
6	g.129464398G>T	CA365620715	LAMA2	c.7101G>T (p.Lys2367Asn) c.7365G>T (p.Lys2455Asn) n.732G>T n.440G>T c.7098G>T (p.Lys2366Asn) c.7359G>T (p.Lys2453Asn) c.7371G>T (p.Lys2457Asn) c.5496G>T (p.Lys1832Asn)	COSMIC
6	g.129464399T>A	CA365620734	LAMA2	c.7102T>A (p.Phe2368Ile) c.7366T>A (p.Phe2456Ile) n.733T>A n.441T>A c.7099T>A (p.Phe2367Ile) c.7360T>A (p.Phe2454Ile) c.7372T>A (p.Phe2458Ile) c.5497T>A (p.Phe1833Ile)
6	g.129464399T>C	CA365620726	LAMA2	c.7102T>C (p.Phe2368Leu) c.7366T>C (p.Phe2456Leu) n.733T>C n.441T>C c.7099T>C (p.Phe2367Leu) c.7360T>C (p.Phe2454Leu) c.7372T>C (p.Phe2458Leu) c.5497T>C (p.Phe1833Leu)
6	g.129464399T>G	CA365620730	LAMA2	c.7102T>G (p.Phe2368Val) c.7366T>G (p.Phe2456Val) n.733T>G n.441T>G c.7099T>G (p.Phe2367Val) c.7360T>G (p.Phe2454Val) c.7372T>G (p.Phe2458Val) c.5497T>G (p.Phe1833Val)
6	g.129464400T>A	CA365620739	LAMA2	c.7103T>A (p.Phe2368Tyr) c.7367T>A (p.Phe2456Tyr) n.734T>A n.442T>A c.7100T>A (p.Phe2367Tyr) c.7361T>A (p.Phe2454Tyr) c.7373T>A (p.Phe2458Tyr) c.5498T>A (p.Phe1833Tyr)
6	g.129464400T>C	CA365620741	LAMA2	c.7103T>C (p.Phe2368Ser) c.7367T>C (p.Phe2456Ser) n.734T>C n.442T>C c.7100T>C (p.Phe2367Ser) c.7361T>C (p.Phe2454Ser) c.7373T>C (p.Phe2458Ser) c.5498T>C (p.Phe1833Ser)
6	g.129464400T>G	CA365620743	LAMA2	c.7103T>G (p.Phe2368Cys) c.7367T>G (p.Phe2456Cys) n.734T>G n.442T>G c.7100T>G (p.Phe2367Cys) c.7361T>G (p.Phe2454Cys) c.7373T>G (p.Phe2458Cys) c.5498T>G (p.Phe1833Cys)
6	g.129464401C>A	CA365620754	LAMA2	c.7104C>A (p.Phe2368Leu) c.7368C>A (p.Phe2456Leu) n.735C>A n.443C>A c.7101C>A (p.Phe2367Leu) c.7362C>A (p.Phe2454Leu) c.7374C>A (p.Phe2458Leu) c.5499C>A (p.Phe1833Leu)
6	g.129464401C>G	CA365620757	LAMA2	c.7104C>G (p.Phe2368Leu) c.7368C>G (p.Phe2456Leu) n.735C>G n.443C>G c.7101C>G (p.Phe2367Leu) c.7362C>G (p.Phe2454Leu) c.7374C>G (p.Phe2458Leu) c.5499C>G (p.Phe1833Leu)
6	g.129464401C>T	CA451925992	LAMA2	c.7104C>T (p.Phe2368=) c.7368C>T (p.Phe2456=) n.735C>T n.443C>T c.7101C>T (p.Phe2367=) c.7362C>T (p.Phe2454=) c.7374C>T (p.Phe2458=) c.5499C>T (p.Phe1833=)	ClinVar dbSNP
6	g.129464402A>C	CA451925994	LAMA2	c.7105A>C (p.Arg2369=) c.7369A>C (p.Arg2457=) n.736A>C n.444A>C c.7102A>C (p.Arg2368=) c.7363A>C (p.Arg2455=) c.7375A>C (p.Arg2459=) c.5500A>C (p.Arg1834=)
6	g.129464402A>G	CA365620760	LAMA2	c.7105A>G (p.Arg2369Gly) c.7369A>G (p.Arg2457Gly) n.736A>G n.444A>G c.7102A>G (p.Arg2368Gly) c.7363A>G (p.Arg2455Gly) c.7375A>G (p.Arg2459Gly) c.5500A>G (p.Arg1834Gly)
6	g.129464402A>T	CA365620764	LAMA2	c.7105A>T (p.Arg2369Ter) c.7369A>T (p.Arg2457Ter) n.736A>T n.444A>T c.7102A>T (p.Arg2368Ter) c.7363A>T (p.Arg2455Ter) c.7375A>T (p.Arg2459Ter) c.5500A>T (p.Arg1834Ter)
6	g.129464403G>A	CA365620771	LAMA2	c.7106G>A (p.Arg2369Lys) c.7370G>A (p.Arg2457Lys) n.737G>A n.445G>A c.7103G>A (p.Arg2368Lys) c.7364G>A (p.Arg2455Lys) c.7376G>A (p.Arg2459Lys) c.5501G>A (p.Arg1834Lys)
6	g.129464403G>C	CA365620774	LAMA2	c.7106G>C (p.Arg2369Thr) c.7370G>C (p.Arg2457Thr) n.737G>C n.445G>C c.7103G>C (p.Arg2368Thr) c.7364G>C (p.Arg2455Thr) c.7376G>C (p.Arg2459Thr) c.5501G>C (p.Arg1834Thr)
6	g.129464403G=	CA1663191598	LAMA2	c.7106G= (p.Arg2369=) c.7370G= (p.Arg2457=) n.737G= n.445G= c.7103G= (p.Arg2368=) c.7364G= (p.Arg2455=) c.7376G= (p.Arg2459=) c.5501G= (p.Arg1834=)
6	g.129464403G>T	CA365620777	LAMA2	c.7106G>T (p.Arg2369Ile) c.7370G>T (p.Arg2457Ile) n.737G>T n.445G>T c.7103G>T (p.Arg2368Ile) c.7364G>T (p.Arg2455Ile) c.7376G>T (p.Arg2459Ile) c.5501G>T (p.Arg1834Ile)	dbSNP gnomAD v2 gnomAD v4
6	g.129464404A>C	CA365620782	LAMA2	c.7107A>C (p.Arg2369Ser) c.7371A>C (p.Arg2457Ser) n.738A>C n.446A>C c.7104A>C (p.Arg2368Ser) c.7365A>C (p.Arg2455Ser) c.7377A>C (p.Arg2459Ser) c.5502A>C (p.Arg1834Ser)
6	g.129464404A>G	CA451925995	LAMA2	c.7107A>G (p.Arg2369=) c.7371A>G (p.Arg2457=) n.738A>G n.446A>G c.7104A>G (p.Arg2368=) c.7365A>G (p.Arg2455=) c.7377A>G (p.Arg2459=) c.5502A>G (p.Arg1834=)	gnomAD v4
6	g.129464404A>T	CA365620784	LAMA2	c.7107A>T (p.Arg2369Ser) c.7371A>T (p.Arg2457Ser) n.738A>T n.446A>T c.7104A>T (p.Arg2368Ser) c.7365A>T (p.Arg2455Ser) c.7377A>T (p.Arg2459Ser) c.5502A>T (p.Arg1834Ser)
6	g.129464405A>C	CA365620786	LAMA2	c.7108A>C (p.Thr2370Pro) c.7372A>C (p.Thr2458Pro) n.739A>C n.447A>C c.7105A>C (p.Thr2369Pro) c.7366A>C (p.Thr2456Pro) c.7378A>C (p.Thr2460Pro) c.5503A>C (p.Thr1835Pro)
6	g.129464405A>G	CA365620794	LAMA2	c.7108A>G (p.Thr2370Ala) c.7372A>G (p.Thr2458Ala) n.739A>G n.447A>G c.7105A>G (p.Thr2369Ala) c.7366A>G (p.Thr2456Ala) c.7378A>G (p.Thr2460Ala) c.5503A>G (p.Thr1835Ala)
6	g.129464405A>T	CA365620792	LAMA2	c.7108A>T (p.Thr2370Ser) c.7372A>T (p.Thr2458Ser) n.739A>T n.447A>T c.7105A>T (p.Thr2369Ser) c.7366A>T (p.Thr2456Ser) c.7378A>T (p.Thr2460Ser) c.5503A>T (p.Thr1835Ser)
6	g.129464406C>A	CA365620797	LAMA2	c.7109C>A (p.Thr2370Lys) c.7373C>A (p.Thr2458Lys) n.740C>A n.448C>A c.7106C>A (p.Thr2369Lys) c.7367C>A (p.Thr2456Lys) c.7379C>A (p.Thr2460Lys) c.5504C>A (p.Thr1835Lys)	gnomAD v4
6	g.129464406C=	CA1663191602	LAMA2	c.7109C= (p.Thr2370=) c.7373C= (p.Thr2458=) n.740C= n.448C= c.7106C= (p.Thr2369=) c.7367C= (p.Thr2456=) c.7379C= (p.Thr2460=) c.5504C= (p.Thr1835=)
6	g.129464406C>G	CA365620804	LAMA2	c.7109C>G (p.Thr2370Arg) c.7373C>G (p.Thr2458Arg) n.740C>G n.448C>G c.7106C>G (p.Thr2369Arg) c.7367C>G (p.Thr2456Arg) c.7379C>G (p.Thr2460Arg) c.5504C>G (p.Thr1835Arg)
6	g.129464406C>T	CA3994440	LAMA2	c.7109C>T (p.Thr2370Ile) c.7373C>T (p.Thr2458Ile) n.740C>T n.448C>T c.7106C>T (p.Thr2369Ile) c.7367C>T (p.Thr2456Ile) c.7379C>T (p.Thr2460Ile) c.5504C>T (p.Thr1835Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.129464407A>C	CA451925997	LAMA2	c.7110A>C (p.Thr2370=) c.7374A>C (p.Thr2458=) n.741A>C n.449A>C c.7107A>C (p.Thr2369=) c.7368A>C (p.Thr2456=) c.7380A>C (p.Thr2460=) c.5505A>C (p.Thr1835=)
6	g.129464407A>G	CA451925998	LAMA2	c.7110A>G (p.Thr2370=) c.7374A>G (p.Thr2458=) n.741A>G n.449A>G c.7107A>G (p.Thr2369=) c.7368A>G (p.Thr2456=) c.7380A>G (p.Thr2460=) c.5505A>G (p.Thr1835=)	gnomAD v4
6	g.129464407A>T	CA451926000	LAMA2	c.7110A>T (p.Thr2370=) c.7374A>T (p.Thr2458=) n.741A>T n.449A>T c.7107A>T (p.Thr2369=) c.7368A>T (p.Thr2456=) c.7380A>T (p.Thr2460=) c.5505A>T (p.Thr1835=)
6	g.129464408T>A	CA365620825	LAMA2	c.7111T>A (p.Phe2371Ile) c.7375T>A (p.Phe2459Ile) n.742T>A n.450T>A c.7108T>A (p.Phe2370Ile) c.7369T>A (p.Phe2457Ile) c.7381T>A (p.Phe2461Ile) c.5506T>A (p.Phe1836Ile)
6	g.129464408T>C	CA365620828	LAMA2	c.7111T>C (p.Phe2371Leu) c.7375T>C (p.Phe2459Leu) n.742T>C n.450T>C c.7108T>C (p.Phe2370Leu) c.7369T>C (p.Phe2457Leu) c.7381T>C (p.Phe2461Leu) c.5506T>C (p.Phe1836Leu)
6	g.129464408T>G	CA220795	LAMA2	c.7111T>G (p.Phe2371Val) c.7375T>G (p.Phe2459Val) n.742T>G n.450T>G c.7108T>G (p.Phe2370Val) c.7369T>G (p.Phe2457Val) c.7381T>G (p.Phe2461Val) c.5506T>G (p.Phe1836Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.129464408T=	CA1663191609	LAMA2	c.7111T= (p.Phe2371=) c.7375T= (p.Phe2459=) n.742T= n.450T= c.7108T= (p.Phe2370=) c.7369T= (p.Phe2457=) c.7381T= (p.Phe2461=) c.5506T= (p.Phe1836=)
6	g.129464411del	CA2680307466	LAMA2	c.7114del (p.Ser2372LeufsTer6) c.7378del (p.Ser2460LeufsTer6) n.745del n.453del c.7111del (p.Ser2371LeufsTer6) c.7372del (p.Ser2458LeufsTer6) c.7384del (p.Ser2462LeufsTer6) c.5509del (p.Ser1837LeufsTer6)	gnomAD v4
6	g.129464409T>A	CA3994442	LAMA2	c.7112T>A (p.Phe2371Tyr) c.7376T>A (p.Phe2459Tyr) n.743T>A n.451T>A c.7109T>A (p.Phe2370Tyr) c.7370T>A (p.Phe2457Tyr) c.7382T>A (p.Phe2461Tyr) c.5507T>A (p.Phe1836Tyr)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.129464409T>C	CA3994443	LAMA2	c.7112T>C (p.Phe2371Ser) c.7376T>C (p.Phe2459Ser) n.743T>C n.451T>C c.7109T>C (p.Phe2370Ser) c.7370T>C (p.Phe2457Ser) c.7382T>C (p.Phe2461Ser) c.5507T>C (p.Phe1836Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.129464409T>G	CA3994441	LAMA2	c.7112T>G (p.Phe2371Cys) c.7376T>G (p.Phe2459Cys) n.743T>G n.451T>G c.7109T>G (p.Phe2370Cys) c.7370T>G (p.Phe2457Cys) c.7382T>G (p.Phe2461Cys) c.5507T>G (p.Phe1836Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.129464409T=	CA1663191617	LAMA2	c.7112T= (p.Phe2371=) c.7376T= (p.Phe2459=) n.743T= n.451T= c.7109T= (p.Phe2370=) c.7370T= (p.Phe2457=) c.7382T= (p.Phe2461=) c.5507T= (p.Phe1836=)
6	g.129464410T>A	CA365620852	LAMA2	c.7113T>A (p.Phe2371Leu) c.7377T>A (p.Phe2459Leu) n.744T>A n.452T>A c.7110T>A (p.Phe2370Leu) c.7371T>A (p.Phe2457Leu) c.7383T>A (p.Phe2461Leu) c.5508T>A (p.Phe1836Leu)
6	g.129464410T>C	CA451926005	LAMA2	c.7113T>C (p.Phe2371=) c.7377T>C (p.Phe2459=) n.744T>C n.452T>C c.7110T>C (p.Phe2370=) c.7371T>C (p.Phe2457=) c.7383T>C (p.Phe2461=) c.5508T>C (p.Phe1836=)
6	g.129464410T>G	CA365620854	LAMA2	c.7113T>G (p.Phe2371Leu) c.7377T>G (p.Phe2459Leu) n.744T>G n.452T>G c.7110T>G (p.Phe2370Leu) c.7371T>G (p.Phe2457Leu) c.7383T>G (p.Phe2461Leu) c.5508T>G (p.Phe1836Leu)
6	g.129464411T>A	CA365620856	LAMA2	c.7114T>A (p.Ser2372Thr) c.7378T>A (p.Ser2460Thr) n.745T>A n.453T>A c.7111T>A (p.Ser2371Thr) c.7372T>A (p.Ser2458Thr) c.7384T>A (p.Ser2462Thr) c.5509T>A (p.Ser1837Thr)
6	g.129464411T>C	CA365620857	LAMA2	c.7114T>C (p.Ser2372Pro) c.7378T>C (p.Ser2460Pro) n.745T>C n.453T>C c.7111T>C (p.Ser2371Pro) c.7372T>C (p.Ser2458Pro) c.7384T>C (p.Ser2462Pro) c.5509T>C (p.Ser1837Pro)
6	g.129464411T>G	CA365620859	LAMA2	c.7114T>G (p.Ser2372Ala) c.7378T>G (p.Ser2460Ala) n.745T>G n.453T>G c.7111T>G (p.Ser2371Ala) c.7372T>G (p.Ser2458Ala) c.7384T>G (p.Ser2462Ala) c.5509T>G (p.Ser1837Ala)
6	g.129464412C>A	CA365620886	LAMA2	c.7115C>A (p.Ser2372Tyr) c.7379C>A (p.Ser2460Tyr) n.746C>A n.454C>A c.7112C>A (p.Ser2371Tyr) c.7373C>A (p.Ser2458Tyr) c.7385C>A (p.Ser2462Tyr) c.5510C>A (p.Ser1837Tyr)	gnomAD v4
6	g.129464412C>G	CA365620868	LAMA2	c.7115C>G (p.Ser2372Cys) c.7379C>G (p.Ser2460Cys) n.746C>G n.454C>G c.7112C>G (p.Ser2371Cys) c.7373C>G (p.Ser2458Cys) c.7385C>G (p.Ser2462Cys) c.5510C>G (p.Ser1837Cys)
6	g.129464412C>T	CA365620871	LAMA2	c.7115C>T (p.Ser2372Phe) c.7379C>T (p.Ser2460Phe) n.746C>T n.454C>T c.7112C>T (p.Ser2371Phe) c.7373C>T (p.Ser2458Phe) c.7385C>T (p.Ser2462Phe) c.5510C>T (p.Ser1837Phe)
6	g.129464413T>A	CA451926008	LAMA2	c.7116T>A (p.Ser2372=) c.7380T>A (p.Ser2460=) n.747T>A n.455T>A c.7113T>A (p.Ser2371=) c.7374T>A (p.Ser2458=) c.7386T>A (p.Ser2462=) c.5511T>A (p.Ser1837=)
6	g.129464413T>C	CA451926009	LAMA2	c.7116T>C (p.Ser2372=) c.7380T>C (p.Ser2460=) n.747T>C n.455T>C c.7113T>C (p.Ser2371=) c.7374T>C (p.Ser2458=) c.7386T>C (p.Ser2462=) c.5511T>C (p.Ser1837=)
6	g.129464413T>G	CA451926011	LAMA2	c.7116T>G (p.Ser2372=) c.7380T>G (p.Ser2460=) n.747T>G n.455T>G c.7113T>G (p.Ser2371=) c.7374T>G (p.Ser2458=) c.7386T>G (p.Ser2462=) c.5511T>G (p.Ser1837=)
6	g.129464414T>A	CA365620890	LAMA2	c.7117T>A (p.Ser2373Thr) c.7381T>A (p.Ser2461Thr) n.748T>A n.456T>A c.7114T>A (p.Ser2372Thr) c.7375T>A (p.Ser2459Thr) c.7387T>A (p.Ser2463Thr) c.5512T>A (p.Ser1838Thr)	COSMIC
6	g.129464414T>C	CA365620892	LAMA2	c.7117T>C (p.Ser2373Pro) c.7381T>C (p.Ser2461Pro) n.748T>C n.456T>C c.7114T>C (p.Ser2372Pro) c.7375T>C (p.Ser2459Pro) c.7387T>C (p.Ser2463Pro) c.5512T>C (p.Ser1838Pro)
6	g.129464414T>G	CA365620894	LAMA2	c.7117T>G (p.Ser2373Ala) c.7381T>G (p.Ser2461Ala) n.748T>G n.456T>G c.7114T>G (p.Ser2372Ala) c.7375T>G (p.Ser2459Ala) c.7387T>G (p.Ser2463Ala) c.5512T>G (p.Ser1838Ala)	gnomAD v4
6	g.129464415C>A	CA365620897	LAMA2	c.7118C>A (p.Ser2373Ter) c.7382C>A (p.Ser2461Ter) n.749C>A n.457C>A c.7115C>A (p.Ser2372Ter) c.7376C>A (p.Ser2459Ter) c.7388C>A (p.Ser2463Ter) c.5513C>A (p.Ser1838Ter)	gnomAD v4
6	g.129464415C=	CA1663191621	LAMA2	c.7118C= (p.Ser2373=) c.7382C= (p.Ser2461=) n.749C= n.457C= c.7115C= (p.Ser2372=) c.7376C= (p.Ser2459=) c.7388C= (p.Ser2463=) c.5513C= (p.Ser1838=)
6	g.129464415C>G	CA365620899	LAMA2	c.7118C>G (p.Ser2373Trp) c.7382C>G (p.Ser2461Trp) n.749C>G n.457C>G c.7115C>G (p.Ser2372Trp) c.7376C>G (p.Ser2459Trp) c.7388C>G (p.Ser2463Trp) c.5513C>G (p.Ser1838Trp)
6	g.129464415C>T	CA3994444	LAMA2	c.7118C>T (p.Ser2373Leu) c.7382C>T (p.Ser2461Leu) n.749C>T n.457C>T c.7115C>T (p.Ser2372Leu) c.7376C>T (p.Ser2459Leu) c.7388C>T (p.Ser2463Leu) c.5513C>T (p.Ser1838Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6	g.129464416G>A	CA3994445	LAMA2	c.7119G>A (p.Ser2373=) c.7383G>A (p.Ser2461=) n.750G>A n.458G>A c.7116G>A (p.Ser2372=) c.7377G>A (p.Ser2459=) c.7389G>A (p.Ser2463=) c.5514G>A (p.Ser1838=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.129464416G>C	CA3994446	LAMA2	c.7119G>C (p.Ser2373=) c.7383G>C (p.Ser2461=) n.750G>C n.458G>C c.7116G>C (p.Ser2372=) c.7377G>C (p.Ser2459=) c.7389G>C (p.Ser2463=) c.5514G>C (p.Ser1838=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.129464416G=	CA1663191624	LAMA2	c.7119G= (p.Ser2373=) c.7383G= (p.Ser2461=) n.750G= n.458G= c.7116G= (p.Ser2372=) c.7377G= (p.Ser2459=) c.7389G= (p.Ser2463=) c.5514G= (p.Ser1838=)
6	g.129464416G>T	CA451926013	LAMA2	c.7119G>T (p.Ser2373=) c.7383G>T (p.Ser2461=) n.750G>T n.458G>T c.7116G>T (p.Ser2372=) c.7377G>T (p.Ser2459=) c.7389G>T (p.Ser2463=) c.5514G>T (p.Ser1838=)
6	g.129464417A>C	CA365620909	LAMA2	c.7120A>C (p.Ser2374Arg) c.7384A>C (p.Ser2462Arg) n.751A>C n.459A>C c.7117A>C (p.Ser2373Arg) c.7378A>C (p.Ser2460Arg) c.7390A>C (p.Ser2464Arg) c.5515A>C (p.Ser1839Arg)	gnomAD v4
6	g.129464417A>G	CA365620910	LAMA2	c.7120A>G (p.Ser2374Gly) c.7384A>G (p.Ser2462Gly) n.751A>G n.459A>G c.7117A>G (p.Ser2373Gly) c.7378A>G (p.Ser2460Gly) c.7390A>G (p.Ser2464Gly) c.5515A>G (p.Ser1839Gly)
6	g.129464417A>T	CA365620913	LAMA2	c.7120A>T (p.Ser2374Cys) c.7384A>T (p.Ser2462Cys) n.751A>T n.459A>T c.7117A>T (p.Ser2373Cys) c.7378A>T (p.Ser2460Cys) c.7390A>T (p.Ser2464Cys) c.5515A>T (p.Ser1839Cys)
6	g.129464418G>A	CA3994447	LAMA2	c.7121G>A (p.Ser2374Asn) c.7385G>A (p.Ser2462Asn) n.752G>A n.460G>A c.7118G>A (p.Ser2373Asn) c.7379G>A (p.Ser2460Asn) c.7391G>A (p.Ser2464Asn) c.5516G>A (p.Ser1839Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.129464418G>C	CA365620921	LAMA2	c.7121G>C (p.Ser2374Thr) c.7385G>C (p.Ser2462Thr) n.752G>C n.460G>C c.7118G>C (p.Ser2373Thr) c.7379G>C (p.Ser2460Thr) c.7391G>C (p.Ser2464Thr) c.5516G>C (p.Ser1839Thr)
6	g.129464418G=	CA1663191629	LAMA2	c.7121G= (p.Ser2374=) c.7385G= (p.Ser2462=) n.752G= n.460G= c.7118G= (p.Ser2373=) c.7379G= (p.Ser2460=) c.7391G= (p.Ser2464=) c.5516G= (p.Ser1839=)
6	g.129464418G>T	CA365620916	LAMA2	c.7121G>T (p.Ser2374Ile) c.7385G>T (p.Ser2462Ile) n.752G>T n.460G>T c.7118G>T (p.Ser2373Ile) c.7379G>T (p.Ser2460Ile) c.7391G>T (p.Ser2464Ile) c.5516G>T (p.Ser1839Ile)
6	g.129464419T>A	CA365620927	LAMA2	c.7122T>A (p.Ser2374Arg) c.7386T>A (p.Ser2462Arg) n.753T>A n.461T>A c.7119T>A (p.Ser2373Arg) c.7380T>A (p.Ser2460Arg) c.7392T>A (p.Ser2464Arg) c.5517T>A (p.Ser1839Arg)
6	g.129464419T>C	CA451926014	LAMA2	c.7122T>C (p.Ser2374=) c.7386T>C (p.Ser2462=) n.753T>C n.461T>C c.7119T>C (p.Ser2373=) c.7380T>C (p.Ser2460=) c.7392T>C (p.Ser2464=) c.5517T>C (p.Ser1839=)	ClinVar dbSNP
6	g.129464419T>G	CA365620929	LAMA2	c.7122T>G (p.Ser2374Arg) c.7386T>G (p.Ser2462Arg) n.753T>G n.461T>G c.7119T>G (p.Ser2373Arg) c.7380T>G (p.Ser2460Arg) c.7392T>G (p.Ser2464Arg) c.5517T>G (p.Ser1839Arg)
6	g.129464420G>A	CA365620935	LAMA2	c.7123G>A (p.Ala2375Thr) c.7387G>A (p.Ala2463Thr) n.754G>A n.462G>A c.7120G>A (p.Ala2374Thr) c.7381G>A (p.Ala2461Thr) c.7393G>A (p.Ala2465Thr) c.5518G>A (p.Ala1840Thr)
6	g.129464420G>C	CA365620939	LAMA2	c.7123G>C (p.Ala2375Pro) c.7387G>C (p.Ala2463Pro) n.754G>C n.462G>C c.7120G>C (p.Ala2374Pro) c.7381G>C (p.Ala2461Pro) c.7393G>C (p.Ala2465Pro) c.5518G>C (p.Ala1840Pro)
6	g.129464420G>T	CA365620942	LAMA2	c.7123G>T (p.Ala2375Ser) c.7387G>T (p.Ala2463Ser) n.754G>T n.462G>T c.7120G>T (p.Ala2374Ser) c.7381G>T (p.Ala2461Ser) c.7393G>T (p.Ala2465Ser) c.5518G>T (p.Ala1840Ser)
6	g.129464421C>A	CA3994448	LAMA2	c.7124C>A (p.Ala2375Asp) c.7388C>A (p.Ala2463Asp) n.755C>A n.463C>A c.7121C>A (p.Ala2374Asp) c.7382C>A (p.Ala2461Asp) c.7394C>A (p.Ala2465Asp) c.5519C>A (p.Ala1840Asp)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.129464421C=	CA1663191634	LAMA2	c.7124C= (p.Ala2375=) c.7388C= (p.Ala2463=) n.755C= n.463C= c.7121C= (p.Ala2374=) c.7382C= (p.Ala2461=) c.7394C= (p.Ala2465=) c.5519C= (p.Ala1840=)
6	g.129464421C>G	CA365620946	LAMA2	c.7124C>G (p.Ala2375Gly) c.7388C>G (p.Ala2463Gly) n.755C>G n.463C>G c.7121C>G (p.Ala2374Gly) c.7382C>G (p.Ala2461Gly) c.7394C>G (p.Ala2465Gly) c.5519C>G (p.Ala1840Gly)
6	g.129464421C>T	CA365620947	LAMA2	c.7124C>T (p.Ala2375Val) c.7388C>T (p.Ala2463Val) n.755C>T n.463C>T c.7121C>T (p.Ala2374Val) c.7382C>T (p.Ala2461Val) c.7394C>T (p.Ala2465Val) c.5519C>T (p.Ala1840Val)
6	g.129464422T>A	CA451926016	LAMA2	c.7125T>A (p.Ala2375=) c.7389T>A (p.Ala2463=) n.756T>A n.464T>A c.7122T>A (p.Ala2374=) c.7383T>A (p.Ala2461=) c.7395T>A (p.Ala2465=) c.5520T>A (p.Ala1840=)
6	g.129464422T>C	CA451926017	LAMA2	c.7125T>C (p.Ala2375=) c.7389T>C (p.Ala2463=) n.756T>C n.464T>C c.7122T>C (p.Ala2374=) c.7383T>C (p.Ala2461=) c.7395T>C (p.Ala2465=) c.5520T>C (p.Ala1840=)
6	g.129464422T>G	CA451926018	LAMA2	c.7125T>G (p.Ala2375=) c.7389T>G (p.Ala2463=) n.756T>G n.464T>G c.7122T>G (p.Ala2374=) c.7383T>G (p.Ala2461=) c.7395T>G (p.Ala2465=) c.5520T>G (p.Ala1840=)
6	g.129464423C>A	CA365620948	LAMA2	c.7126C>A (p.Leu2376Ile) c.7390C>A (p.Leu2464Ile) n.757C>A n.465C>A c.7123C>A (p.Leu2375Ile) c.7384C>A (p.Leu2462Ile) c.7396C>A (p.Leu2466Ile) c.5521C>A (p.Leu1841Ile)
6	g.129464423C>G	CA365620949	LAMA2	c.7126C>G (p.Leu2376Val) c.7390C>G (p.Leu2464Val) n.757C>G n.465C>G c.7123C>G (p.Leu2375Val) c.7384C>G (p.Leu2462Val) c.7396C>G (p.Leu2466Val) c.5521C>G (p.Leu1841Val)
6	g.129464423C>T	CA365620950	LAMA2	c.7126C>T (p.Leu2376Phe) c.7390C>T (p.Leu2464Phe) n.757C>T n.465C>T c.7123C>T (p.Leu2375Phe) c.7384C>T (p.Leu2462Phe) c.7396C>T (p.Leu2466Phe) c.5521C>T (p.Leu1841Phe)
6	g.129464423_129464424insA	CA2580074983	LAMA2	c.7126_7127insA (p.Leu2376HisfsTer20) c.7390_7391insA (p.Leu2464HisfsTer20) n.757_758insA n.465_466insA c.7123_7124insA (p.Leu2375HisfsTer20) c.7384_7385insA (p.Leu2462HisfsTer20) c.7396_7397insA (p.Leu2466HisfsTer20) c.5521_5522insA (p.Leu1841HisfsTer20)	ClinVar
6	g.129464424T>A	CA365620953	LAMA2	c.7127T>A (p.Leu2376His) c.7391T>A (p.Leu2464His) n.758T>A n.466T>A c.7124T>A (p.Leu2375His) c.7385T>A (p.Leu2462His) c.7397T>A (p.Leu2466His) c.5522T>A (p.Leu1841His)
6	g.129464424T>C	CA365620955	LAMA2	c.7127T>C (p.Leu2376Pro) c.7391T>C (p.Leu2464Pro) n.758T>C n.466T>C c.7124T>C (p.Leu2375Pro) c.7385T>C (p.Leu2462Pro) c.7397T>C (p.Leu2466Pro) c.5522T>C (p.Leu1841Pro)
6	g.129464424T>G	CA365620961	LAMA2	c.7127T>G (p.Leu2376Arg) c.7391T>G (p.Leu2464Arg) n.758T>G n.466T>G c.7124T>G (p.Leu2375Arg) c.7385T>G (p.Leu2462Arg) c.7397T>G (p.Leu2466Arg) c.5522T>G (p.Leu1841Arg)
6	g.129464425T>A	CA451926020	LAMA2	c.7128T>A (p.Leu2376=) c.7392T>A (p.Leu2464=) n.759T>A n.467T>A c.7125T>A (p.Leu2375=) c.7386T>A (p.Leu2462=) c.7398T>A (p.Leu2466=) c.5523T>A (p.Leu1841=)
6	g.129464425T>C	CA3994449	LAMA2	c.7128T>C (p.Leu2376=) c.7392T>C (p.Leu2464=) n.759T>C n.467T>C c.7125T>C (p.Leu2375=) c.7386T>C (p.Leu2462=) c.7398T>C (p.Leu2466=) c.5523T>C (p.Leu1841=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6	g.129464425T>G	CA451926019	LAMA2	c.7128T>G (p.Leu2376=) c.7392T>G (p.Leu2464=) n.759T>G n.467T>G c.7125T>G (p.Leu2375=) c.7386T>G (p.Leu2462=) c.7398T>G (p.Leu2466=) c.5523T>G (p.Leu1841=)
6	g.129464425T=	CA1663191638	LAMA2	c.7128T= (p.Leu2376=) c.7392T= (p.Leu2464=) n.759T= n.467T= c.7125T= (p.Leu2375=) c.7386T= (p.Leu2462=) c.7398T= (p.Leu2466=) c.5523T= (p.Leu1841=)
6	g.129464426C>A	CA365620963	LAMA2	c.7129C>A (p.Leu2377Met) c.7393C>A (p.Leu2465Met) n.760C>A n.468C>A c.7126C>A (p.Leu2376Met) c.7387C>A (p.Leu2463Met) c.7399C>A (p.Leu2467Met) c.5524C>A (p.Leu1842Met)
6	g.129464426C=	CA1663191642	LAMA2	c.7129C= (p.Leu2377=) c.7393C= (p.Leu2465=) n.760C= n.468C= c.7126C= (p.Leu2376=) c.7387C= (p.Leu2463=) c.7399C= (p.Leu2467=) c.5524C= (p.Leu1842=)
6	g.129464426C>G	CA365620964	LAMA2	c.7129C>G (p.Leu2377Val) c.7393C>G (p.Leu2465Val) n.760C>G n.468C>G c.7126C>G (p.Leu2376Val) c.7387C>G (p.Leu2463Val) c.7399C>G (p.Leu2467Val) c.5524C>G (p.Leu1842Val)
6	g.129464426C>T	CA451926021	LAMA2	c.7129C>T (p.Leu2377=) c.7393C>T (p.Leu2465=) n.760C>T n.468C>T c.7126C>T (p.Leu2376=) c.7387C>T (p.Leu2463=) c.7399C>T (p.Leu2467=) c.5524C>T (p.Leu1842=)	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.129464427T>A	CA365620965	LAMA2	c.7130T>A (p.Leu2377Gln) c.7394T>A (p.Leu2465Gln) n.761T>A n.469T>A c.7127T>A (p.Leu2376Gln) c.7388T>A (p.Leu2463Gln) c.7400T>A (p.Leu2467Gln) c.5525T>A (p.Leu1842Gln)	COSMIC
6	g.129464427T>C	CA365620966	LAMA2	c.7130T>C (p.Leu2377Pro) c.7394T>C (p.Leu2465Pro) n.761T>C n.469T>C c.7127T>C (p.Leu2376Pro) c.7388T>C (p.Leu2463Pro) c.7400T>C (p.Leu2467Pro) c.5525T>C (p.Leu1842Pro)
6	g.129464427T>G	CA365620967	LAMA2	c.7130T>G (p.Leu2377Arg) c.7394T>G (p.Leu2465Arg) n.761T>G n.469T>G c.7127T>G (p.Leu2376Arg) c.7388T>G (p.Leu2463Arg) c.7400T>G (p.Leu2467Arg) c.5525T>G (p.Leu1842Arg)
6	g.129464428G>A	CA451926024	LAMA2	c.7131G>A (p.Leu2377=) c.7395G>A (p.Leu2465=) n.762G>A n.470G>A c.7128G>A (p.Leu2376=) c.7389G>A (p.Leu2463=) c.7401G>A (p.Leu2467=) c.5526G>A (p.Leu1842=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6	g.129464428G>C	CA451926023	LAMA2	c.7131G>C (p.Leu2377=) c.7395G>C (p.Leu2465=) n.762G>C n.470G>C c.7128G>C (p.Leu2376=) c.7389G>C (p.Leu2463=) c.7401G>C (p.Leu2467=) c.5526G>C (p.Leu1842=)	ClinVar
6	g.129464428G=	CA1663191645	LAMA2	c.7131G= (p.Leu2377=) c.7395G= (p.Leu2465=) n.762G= n.470G= c.7128G= (p.Leu2376=) c.7389G= (p.Leu2463=) c.7401G= (p.Leu2467=) c.5526G= (p.Leu1842=)
6	g.129464428G>T	CA451926022	LAMA2	c.7131G>T (p.Leu2377=) c.7395G>T (p.Leu2465=) n.762G>T n.470G>T c.7128G>T (p.Leu2376=) c.7389G>T (p.Leu2463=) c.7401G>T (p.Leu2467=) c.5526G>T (p.Leu1842=)	ClinVar dbSNP
6	g.129464429A=	CA1663191650	LAMA2	c.7132A= (p.Met2378=) c.7396A= (p.Met2466=) n.763A= n.471A= c.7129A= (p.Met2377=) c.7390A= (p.Met2464=) c.7402A= (p.Met2468=) c.5527A= (p.Met1843=)
6	g.129464429A>C	CA365620968	LAMA2	c.7132A>C (p.Met2378Leu) c.7396A>C (p.Met2466Leu) n.763A>C n.471A>C c.7129A>C (p.Met2377Leu) c.7390A>C (p.Met2464Leu) c.7402A>C (p.Met2468Leu) c.5527A>C (p.Met1843Leu)
6	g.129464429A>G	CA365620970	LAMA2	c.7132A>G (p.Met2378Val) c.7396A>G (p.Met2466Val) n.763A>G n.471A>G c.7129A>G (p.Met2377Val) c.7390A>G (p.Met2464Val) c.7402A>G (p.Met2468Val) c.5527A>G (p.Met1843Val)	COSMIC
6	g.129464429A>T	CA3994450	LAMA2	c.7132A>T (p.Met2378Leu) c.7396A>T (p.Met2466Leu) n.763A>T n.471A>T c.7129A>T (p.Met2377Leu) c.7390A>T (p.Met2464Leu) c.7402A>T (p.Met2468Leu) c.5527A>T (p.Met1843Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.129464430T>A	CA365620971	LAMA2	c.7133T>A (p.Met2378Lys) c.7397T>A (p.Met2466Lys) n.764T>A n.472T>A c.7130T>A (p.Met2377Lys) c.7391T>A (p.Met2464Lys) c.7403T>A (p.Met2468Lys) c.5528T>A (p.Met1843Lys)
6	g.129464430T>C	CA365620972	LAMA2	c.7133T>C (p.Met2378Thr) c.7397T>C (p.Met2466Thr) n.764T>C n.472T>C c.7130T>C (p.Met2377Thr) c.7391T>C (p.Met2464Thr) c.7403T>C (p.Met2468Thr) c.5528T>C (p.Met1843Thr)	gnomAD v4
6	g.129464430T>G	CA365620974	LAMA2	c.7133T>G (p.Met2378Arg) c.7397T>G (p.Met2466Arg) n.764T>G n.472T>G c.7130T>G (p.Met2377Arg) c.7391T>G (p.Met2464Arg) c.7403T>G (p.Met2468Arg) c.5528T>G (p.Met1843Arg)
6	g.129464431G>A	CA365620976	LAMA2	c.7134G>A (p.Met2378Ile) c.7398G>A (p.Met2466Ile) n.765G>A n.473G>A c.7131G>A (p.Met2377Ile) c.7392G>A (p.Met2464Ile) c.7404G>A (p.Met2468Ile) c.5529G>A (p.Met1843Ile)	ClinVar dbSNP gnomAD v4
6	g.129464431G>C	CA365620980	LAMA2	c.7134G>C (p.Met2378Ile) c.7398G>C (p.Met2466Ile) n.765G>C n.473G>C c.7131G>C (p.Met2377Ile) c.7392G>C (p.Met2464Ile) c.7404G>C (p.Met2468Ile) c.5529G>C (p.Met1843Ile)
6	g.129464431G>T	CA365620981	LAMA2	c.7134G>T (p.Met2378Ile) c.7398G>T (p.Met2466Ile) n.765G>T n.473G>T c.7131G>T (p.Met2377Ile) c.7392G>T (p.Met2464Ile) c.7404G>T (p.Met2468Ile) c.5529G>T (p.Met1843Ile)
6	g.129464432T>A	CA365620987	LAMA2	c.7135T>A (p.Tyr2379Asn) c.7399T>A (p.Tyr2467Asn) n.766T>A n.474T>A c.7132T>A (p.Tyr2378Asn) c.7393T>A (p.Tyr2465Asn) c.7405T>A (p.Tyr2469Asn) c.5530T>A (p.Tyr1844Asn)
6	g.129464432T>C	CA365620984	LAMA2	c.7135T>C (p.Tyr2379His) c.7399T>C (p.Tyr2467His) n.766T>C n.474T>C c.7132T>C (p.Tyr2378His) c.7393T>C (p.Tyr2465His) c.7405T>C (p.Tyr2469His) c.5530T>C (p.Tyr1844His)
6	g.129464432T>G	CA365620983	LAMA2	c.7135T>G (p.Tyr2379Asp) c.7399T>G (p.Tyr2467Asp) n.766T>G n.474T>G c.7132T>G (p.Tyr2378Asp) c.7393T>G (p.Tyr2465Asp) c.7405T>G (p.Tyr2469Asp) c.5530T>G (p.Tyr1844Asp)
6	g.129464433A=	CA1663191653	LAMA2	c.7136A= (p.Tyr2379=) c.7400A= (p.Tyr2467=) n.767A= n.475A= c.7133A= (p.Tyr2378=) c.7394A= (p.Tyr2465=) c.7406A= (p.Tyr2469=) c.5531A= (p.Tyr1844=)
6	g.129464433A>C	CA365620988	LAMA2	c.7136A>C (p.Tyr2379Ser) c.7400A>C (p.Tyr2467Ser) n.767A>C n.475A>C c.7133A>C (p.Tyr2378Ser) c.7394A>C (p.Tyr2465Ser) c.7406A>C (p.Tyr2469Ser) c.5531A>C (p.Tyr1844Ser)
6	g.129464433A>G	CA365620990	LAMA2	c.7136A>G (p.Tyr2379Cys) c.7400A>G (p.Tyr2467Cys) n.767A>G n.475A>G c.7133A>G (p.Tyr2378Cys) c.7394A>G (p.Tyr2465Cys) c.7406A>G (p.Tyr2469Cys) c.5531A>G (p.Tyr1844Cys)	dbSNP gnomAD v3 gnomAD v4
6	g.129464433A>T	CA365620989	LAMA2	c.7136A>T (p.Tyr2379Phe) c.7400A>T (p.Tyr2467Phe) n.767A>T n.475A>T c.7133A>T (p.Tyr2378Phe) c.7394A>T (p.Tyr2465Phe) c.7406A>T (p.Tyr2469Phe) c.5531A>T (p.Tyr1844Phe)
6	g.129464434T>A	CA365620991	LAMA2	c.7137T>A (p.Tyr2379Ter) c.7401T>A (p.Tyr2467Ter) n.768T>A n.476T>A c.7134T>A (p.Tyr2378Ter) c.7395T>A (p.Tyr2465Ter) c.7407T>A (p.Tyr2469Ter) c.5532T>A (p.Tyr1844Ter)
6	g.129464434T>C	CA451926025	LAMA2	c.7137T>C (p.Tyr2379=) c.7401T>C (p.Tyr2467=) n.768T>C n.476T>C c.7134T>C (p.Tyr2378=) c.7395T>C (p.Tyr2465=) c.7407T>C (p.Tyr2469=) c.5532T>C (p.Tyr1844=)
6	g.129464434T>G	CA365620993	LAMA2	c.7137T>G (p.Tyr2379Ter) c.7401T>G (p.Tyr2467Ter) n.768T>G n.476T>G c.7134T>G (p.Tyr2378Ter) c.7395T>G (p.Tyr2465Ter) c.7407T>G (p.Tyr2469Ter) c.5532T>G (p.Tyr1844Ter)
6	g.129464435C>A	CA365620995	LAMA2	c.7138C>A (p.Leu2380Ile) c.7402C>A (p.Leu2468Ile) n.769C>A n.477C>A c.7135C>A (p.Leu2379Ile) c.7396C>A (p.Leu2466Ile) c.7408C>A (p.Leu2470Ile) c.5533C>A (p.Leu1845Ile)
6	g.129464435C>G	CA365620997	LAMA2	c.7138C>G (p.Leu2380Val) c.7402C>G (p.Leu2468Val) n.769C>G n.477C>G c.7135C>G (p.Leu2379Val) c.7396C>G (p.Leu2466Val) c.7408C>G (p.Leu2470Val) c.5533C>G (p.Leu1845Val)	gnomAD v4
6	g.129464435C>T	CA365620996	LAMA2	c.7138C>T (p.Leu2380Phe) c.7402C>T (p.Leu2468Phe) n.769C>T n.477C>T c.7135C>T (p.Leu2379Phe) c.7396C>T (p.Leu2466Phe) c.7408C>T (p.Leu2470Phe) c.5533C>T (p.Leu1845Phe)
6	g.129464436T>A	CA365620999	LAMA2	c.7139T>A (p.Leu2380His) c.7403T>A (p.Leu2468His) n.770T>A n.478T>A c.7136T>A (p.Leu2379His) c.7397T>A (p.Leu2466His) c.7409T>A (p.Leu2470His) c.5534T>A (p.Leu1845His)
6	g.129464436T>C	CA365621009	LAMA2	c.7139T>C (p.Leu2380Pro) c.7403T>C (p.Leu2468Pro) n.770T>C n.478T>C c.7136T>C (p.Leu2379Pro) c.7397T>C (p.Leu2466Pro) c.7409T>C (p.Leu2470Pro) c.5534T>C (p.Leu1845Pro)
6	g.129464436T>G	CA146891511	LAMA2	c.7139T>G (p.Leu2380Arg) c.7403T>G (p.Leu2468Arg) n.770T>G n.478T>G c.7136T>G (p.Leu2379Arg) c.7397T>G (p.Leu2466Arg) c.7409T>G (p.Leu2470Arg) c.5534T>G (p.Leu1845Arg)	ClinVar dbSNP gnomAD v4 COSMIC
6	g.129464436T=	CA1663191657	LAMA2	c.7139T= (p.Leu2380=) c.7403T= (p.Leu2468=) n.770T= n.478T= c.7136T= (p.Leu2379=) c.7397T= (p.Leu2466=) c.7409T= (p.Leu2470=) c.5534T= (p.Leu1845=)
6	g.129464437T>A	CA451926026	LAMA2	c.7140T>A (p.Leu2380=) c.7404T>A (p.Leu2468=) n.771T>A n.479T>A c.7137T>A (p.Leu2379=) c.7398T>A (p.Leu2466=) c.7410T>A (p.Leu2470=) c.5535T>A (p.Leu1845=)
6	g.129464437T>C	CA451926027	LAMA2	c.7140T>C (p.Leu2380=) c.7404T>C (p.Leu2468=) n.771T>C n.479T>C c.7137T>C (p.Leu2379=) c.7398T>C (p.Leu2466=) c.7410T>C (p.Leu2470=) c.5535T>C (p.Leu1845=)
6	g.129464437T>G	CA451926028	LAMA2	c.7140T>G (p.Leu2380=) c.7404T>G (p.Leu2468=) n.771T>G n.479T>G c.7137T>G (p.Leu2379=) c.7398T>G (p.Leu2466=) c.7410T>G (p.Leu2470=) c.5535T>G (p.Leu1845=)
6	g.129464438G>A	CA365621011	LAMA2	c.7141G>A (p.Ala2381Thr) c.7405G>A (p.Ala2469Thr) n.772G>A n.480G>A c.7138G>A (p.Ala2380Thr) c.7399G>A (p.Ala2467Thr) c.7411G>A (p.Ala2471Thr) c.5536G>A (p.Ala1846Thr)
6	g.129464438G>C	CA365621013	LAMA2	c.7141G>C (p.Ala2381Pro) c.7405G>C (p.Ala2469Pro) n.772G>C n.480G>C c.7138G>C (p.Ala2380Pro) c.7399G>C (p.Ala2467Pro) c.7411G>C (p.Ala2471Pro) c.5536G>C (p.Ala1846Pro)
6	g.129464438G>T	CA365621014	LAMA2	c.7141G>T (p.Ala2381Ser) c.7405G>T (p.Ala2469Ser) n.772G>T n.480G>T c.7138G>T (p.Ala2380Ser) c.7399G>T (p.Ala2467Ser) c.7411G>T (p.Ala2471Ser) c.5536G>T (p.Ala1846Ser)
6	g.129464439C>A	CA365621017	LAMA2	c.7142C>A (p.Ala2381Asp) c.7406C>A (p.Ala2469Asp) n.773C>A n.481C>A c.7139C>A (p.Ala2380Asp) c.7400C>A (p.Ala2467Asp) c.7412C>A (p.Ala2471Asp) c.5537C>A (p.Ala1846Asp)	dbSNP gnomAD v4
6	g.129464439C=	CA1663191660	LAMA2	c.7142C= (p.Ala2381=) c.7406C= (p.Ala2469=) n.773C= n.481C= c.7139C= (p.Ala2380=) c.7400C= (p.Ala2467=) c.7412C= (p.Ala2471=) c.5537C= (p.Ala1846=)
6	g.129464439C>G	CA365621019	LAMA2	c.7142C>G (p.Ala2381Gly) c.7406C>G (p.Ala2469Gly) n.773C>G n.481C>G c.7139C>G (p.Ala2380Gly) c.7400C>G (p.Ala2467Gly) c.7412C>G (p.Ala2471Gly) c.5537C>G (p.Ala1846Gly)
6	g.129464439C>T	CA365621020	LAMA2	c.7142C>T (p.Ala2381Val) c.7406C>T (p.Ala2469Val) n.773C>T n.481C>T c.7139C>T (p.Ala2380Val) c.7400C>T (p.Ala2467Val) c.7412C>T (p.Ala2471Val) c.5537C>T (p.Ala1846Val)
6	g.129464439delinsGT	CA2580074984	LAMA2	c.7142delinsGT (p.Ala2381GlyfsTer15) c.7406delinsGT (p.Ala2469GlyfsTer15) n.773delinsGT n.481delinsGT c.7139delinsGT (p.Ala2380GlyfsTer15) c.7400delinsGT (p.Ala2467GlyfsTer15) c.7412delinsGT (p.Ala2471GlyfsTer15) c.5537delinsGT (p.Ala1846GlyfsTer15)	ClinVar
6	g.129464440C>A	CA451926029	LAMA2	c.7143C>A (p.Ala2381=) c.7407C>A (p.Ala2469=) n.774C>A n.482C>A c.7140C>A (p.Ala2380=) c.7401C>A (p.Ala2467=) c.7413C>A (p.Ala2471=) c.5538C>A (p.Ala1846=)	COSMIC
6	g.129464440C>G	CA451926030	LAMA2	c.7143C>G (p.Ala2381=) c.7407C>G (p.Ala2469=) n.774C>G n.482C>G c.7140C>G (p.Ala2380=) c.7401C>G (p.Ala2467=) c.7413C>G (p.Ala2471=) c.5538C>G (p.Ala1846=)
6	g.129464440C>T	CA451926031	LAMA2	c.7143C>T (p.Ala2381=) c.7407C>T (p.Ala2469=) n.774C>T n.482C>T c.7140C>T (p.Ala2380=) c.7401C>T (p.Ala2467=) c.7413C>T (p.Ala2471=) c.5538C>T (p.Ala1846=)
6	g.129464441A>C	CA365621022	LAMA2	c.7144A>C (p.Thr2382Pro) c.7408A>C (p.Thr2470Pro) n.775A>C n.483A>C c.7141A>C (p.Thr2381Pro) c.7402A>C (p.Thr2468Pro) c.7414A>C (p.Thr2472Pro) c.5539A>C (p.Thr1847Pro)
6	g.129464441A>G	CA365621025	LAMA2	c.7144A>G (p.Thr2382Ala) c.7408A>G (p.Thr2470Ala) n.775A>G n.483A>G c.7141A>G (p.Thr2381Ala) c.7402A>G (p.Thr2468Ala) c.7414A>G (p.Thr2472Ala) c.5539A>G (p.Thr1847Ala)
6	g.129464441A>T	CA365621028	LAMA2	c.7144A>T (p.Thr2382Ser) c.7408A>T (p.Thr2470Ser) n.775A>T n.483A>T c.7141A>T (p.Thr2381Ser) c.7402A>T (p.Thr2468Ser) c.7414A>T (p.Thr2472Ser) c.5539A>T (p.Thr1847Ser)
6	g.129464442C>A	CA365621031	LAMA2	c.7145C>A (p.Thr2382Lys) c.7409C>A (p.Thr2470Lys) n.776C>A n.484C>A c.7142C>A (p.Thr2381Lys) c.7403C>A (p.Thr2468Lys) c.7415C>A (p.Thr2472Lys) c.5540C>A (p.Thr1847Lys)	gnomAD v4
6	g.129464442C>G	CA365621032	LAMA2	c.7145C>G (p.Thr2382Arg) c.7409C>G (p.Thr2470Arg) n.776C>G n.484C>G c.7142C>G (p.Thr2381Arg) c.7403C>G (p.Thr2468Arg) c.7415C>G (p.Thr2472Arg) c.5540C>G (p.Thr1847Arg)
6	g.129464442C>T	CA365621035	LAMA2	c.7145C>T (p.Thr2382Ile) c.7409C>T (p.Thr2470Ile) n.776C>T n.484C>T c.7142C>T (p.Thr2381Ile) c.7403C>T (p.Thr2468Ile) c.7415C>T (p.Thr2472Ile) c.5540C>T (p.Thr1847Ile)
6	g.129464443A>C	CA451926032	LAMA2	c.7146A>C (p.Thr2382=) c.7410A>C (p.Thr2470=) n.777A>C n.485A>C c.7143A>C (p.Thr2381=) c.7404A>C (p.Thr2468=) c.7416A>C (p.Thr2472=) c.5541A>C (p.Thr1847=)
6	g.129464443A>G	CA451926033	LAMA2	c.7146A>G (p.Thr2382=) c.7410A>G (p.Thr2470=) n.777A>G n.485A>G c.7143A>G (p.Thr2381=) c.7404A>G (p.Thr2468=) c.7416A>G (p.Thr2472=) c.5541A>G (p.Thr1847=)
6	g.129464443A>T	CA451926034	LAMA2	c.7146A>T (p.Thr2382=) c.7410A>T (p.Thr2470=) n.777A>T n.485A>T c.7143A>T (p.Thr2381=) c.7404A>T (p.Thr2468=) c.7416A>T (p.Thr2472=) c.5541A>T (p.Thr1847=)
6	g.129464444del	CA2580074986	LAMA2	c.7147del (p.Arg2383GlufsTer3) c.7411del (p.Arg2471GlufsTer3) n.778del n.486del c.7144del (p.Arg2382GlufsTer3) c.7405del (p.Arg2469GlufsTer3) c.7417del (p.Arg2473GlufsTer3) c.5542del (p.Arg1848GlufsTer3)	ClinVar
6	g.129464444C>A	CA3994451	LAMA2	c.7147C>A (p.Arg2383=) c.7411C>A (p.Arg2471=) n.778C>A n.486C>A c.7144C>A (p.Arg2382=) c.7405C>A (p.Arg2469=) c.7417C>A (p.Arg2473=) c.5542C>A (p.Arg1848=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6	g.129464444C=	CA1663191666	LAMA2	c.7147C= (p.Arg2383=) c.7411C= (p.Arg2471=) n.778C= n.486C= c.7144C= (p.Arg2382=) c.7405C= (p.Arg2469=) c.7417C= (p.Arg2473=) c.5542C= (p.Arg1848=)
6	g.129464444C>G	CA365621043	LAMA2	c.7147C>G (p.Arg2383Gly) c.7411C>G (p.Arg2471Gly) n.778C>G n.486C>G c.7144C>G (p.Arg2382Gly) c.7405C>G (p.Arg2469Gly) c.7417C>G (p.Arg2473Gly) c.5542C>G (p.Arg1848Gly)
6	g.129464444C>T	CA123851	LAMA2	c.7147C>T (p.Arg2383Ter) c.7411C>T (p.Arg2471Ter) n.778C>T n.486C>T c.7144C>T (p.Arg2382Ter) c.7405C>T (p.Arg2469Ter) c.7417C>T (p.Arg2473Ter) c.5542C>T (p.Arg1848Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
6	g.129464445G>A	CA3994452	LAMA2	c.7148G>A (p.Arg2383Gln) c.7412G>A (p.Arg2471Gln) n.779G>A n.487G>A c.7145G>A (p.Arg2382Gln) c.7406G>A (p.Arg2469Gln) c.7418G>A (p.Arg2473Gln) c.5543G>A (p.Arg1848Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.129464445G>C	CA365621047	LAMA2	c.7148G>C (p.Arg2383Pro) c.7412G>C (p.Arg2471Pro) n.779G>C n.487G>C c.7145G>C (p.Arg2382Pro) c.7406G>C (p.Arg2469Pro) c.7418G>C (p.Arg2473Pro) c.5543G>C (p.Arg1848Pro)
6	g.129464445G=	CA1663191672	LAMA2	c.7148G= (p.Arg2383=) c.7412G= (p.Arg2471=) n.779G= n.487G= c.7145G= (p.Arg2382=) c.7406G= (p.Arg2469=) c.7418G= (p.Arg2473=) c.5543G= (p.Arg1848=)
6	g.129464445G>T	CA365621049	LAMA2	c.7148G>T (p.Arg2383Leu) c.7412G>T (p.Arg2471Leu) n.779G>T n.487G>T c.7145G>T (p.Arg2382Leu) c.7406G>T (p.Arg2469Leu) c.7418G>T (p.Arg2473Leu) c.5543G>T (p.Arg1848Leu)
6	g.129464446A=	CA1663191674	LAMA2	c.7149A= (p.Arg2383=) c.7413A= (p.Arg2471=) n.780A= n.488A= c.7146A= (p.Arg2382=) c.7407A= (p.Arg2469=) c.7419A= (p.Arg2473=) c.5544A= (p.Arg1848=)
6	g.129464446A>C	CA451926036	LAMA2	c.7149A>C (p.Arg2383=) c.7413A>C (p.Arg2471=) n.780A>C n.488A>C c.7146A>C (p.Arg2382=) c.7407A>C (p.Arg2469=) c.7419A>C (p.Arg2473=) c.5544A>C (p.Arg1848=)
6	g.129464446A>G	CA146891552	LAMA2	c.7149A>G (p.Arg2383=) c.7413A>G (p.Arg2471=) n.780A>G n.488A>G c.7146A>G (p.Arg2382=) c.7407A>G (p.Arg2469=) c.7419A>G (p.Arg2473=) c.5544A>G (p.Arg1848=)	dbSNP
6	g.129464446A>T	CA451926035	LAMA2	c.7149A>T (p.Arg2383=) c.7413A>T (p.Arg2471=) n.780A>T n.488A>T c.7146A>T (p.Arg2382=) c.7407A>T (p.Arg2469=) c.7419A>T (p.Arg2473=) c.5544A>T (p.Arg1848=)
6	g.129464447G>A	CA365621054	LAMA2	c.7150G>A (p.Asp2384Asn) c.7414G>A (p.Asp2472Asn) n.781G>A n.489G>A c.7147G>A (p.Asp2383Asn) c.7408G>A (p.Asp2470Asn) c.7420G>A (p.Asp2474Asn) c.5545G>A (p.Asp1849Asn)
6	g.129464447G>C	CA365621059	LAMA2	c.7150G>C (p.Asp2384His) c.7414G>C (p.Asp2472His) n.781G>C n.489G>C c.7147G>C (p.Asp2383His) c.7408G>C (p.Asp2470His) c.7420G>C (p.Asp2474His) c.5545G>C (p.Asp1849His)
6	g.129464447G>T	CA365621061	LAMA2	c.7150G>T (p.Asp2384Tyr) c.7414G>T (p.Asp2472Tyr) n.781G>T n.489G>T c.7147G>T (p.Asp2383Tyr) c.7408G>T (p.Asp2470Tyr) c.7420G>T (p.Asp2474Tyr) c.5545G>T (p.Asp1849Tyr)

Number of alleles fetched