Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.96292924A=CA1272543444SNRNP200c.2160+48T= (n.2160+48T=)
2g.96292924A>GCA1272543445SNRNP200c.2160+48T>C (n.2160+48T>C)
dbSNP gnomAD v4
2g.96292928T>CCA895728536SNRNP200c.2160+44A>G (n.2160+44A>G)
dbSNP
2g.96292928T=CA1272543446SNRNP200c.2160+44A= (n.2160+44A=)
2g.96292929C>ACA2660186023SNRNP200c.2160+43G>T (n.2160+43G>T)
gnomAD v4
2g.96292929C=CA1272543447SNRNP200c.2160+43G= (n.2160+43G=)
2g.96292929C>GCA2660186025SNRNP200c.2160+43G>C (n.2160+43G>C)
gnomAD v4
2g.96292929C>TCA52399703SNRNP200c.2160+43G>A (n.2160+43G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96292930G>ACA1778758SNRNP200c.2160+42C>T (n.2160+42C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96292930G=CA1272543448SNRNP200c.2160+42C= (n.2160+42C=)
2g.96292933_96292937delinsAGAATCA1272543449SNRNP200c.2160+35_2160+39delinsATTCT (n.2160+35_2160+39delinsATTCT)
2g.96292934G>CCA1272543451SNRNP200c.2160+38C>G (n.2160+38C>G)
dbSNP
2g.96292934G=CA1272543450SNRNP200c.2160+38C= (n.2160+38C=)
2g.96292935_96292938delCA1778759SNRNP200c.2160+35_2160+38del (n.2160+35_2160+38del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96292936A>GCA2660186029SNRNP200c.2160+36T>C (n.2160+36T>C)
gnomAD v4
2g.96292937T>CCA2699990099SNRNP200c.2160+35A>G (n.2160+35A>G)
dbSNP
2g.96292938G>ACA52399706SNRNP200c.2160+34C>T (n.2160+34C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96292938G=CA1272543452SNRNP200c.2160+34C= (n.2160+34C=)
2g.96292938G>TCA2660186030SNRNP200c.2160+34C>A (n.2160+34C>A)
gnomAD v4
2g.96292939G>ACA534376428SNRNP200c.2160+33C>T (n.2160+33C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96292939G=CA1272543453SNRNP200c.2160+33C= (n.2160+33C=)
2g.96292939G>TCA2577035104SNRNP200c.2160+33C>A (n.2160+33C>A)
2g.96292940G>TCA2660186036SNRNP200c.2160+32C>A (n.2160+32C>A)
gnomAD v4
2g.96292941G>ACA1778760SNRNP200c.2160+31C>T (n.2160+31C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.96292941G=CA1272543454SNRNP200c.2160+31C= (n.2160+31C=)
2g.96292942T>ACA2660186041SNRNP200c.2160+30A>T (n.2160+30A>T)
gnomAD v4
2g.96292943T>GCA1778761SNRNP200c.2160+29A>C (n.2160+29A>C)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.96292943T=CA1272543455SNRNP200c.2160+29A= (n.2160+29A=)
2g.96292944C>TCA2660186043SNRNP200c.2160+28G>A (n.2160+28G>A)
gnomAD v4
2g.96292946A=CA1272543456SNRNP200c.2160+26T= (n.2160+26T=)
2g.96292946A>CCA52399730SNRNP200c.2160+26T>G (n.2160+26T>G)
dbSNP
2g.96292947G>CCA1778762SNRNP200c.2160+25C>G (n.2160+25C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.96292947G=CA1272543457SNRNP200c.2160+25C= (n.2160+25C=)
2g.96292953C>ACA1778763SNRNP200c.2160+19G>T (n.2160+19G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.96292953C=CA1272543458SNRNP200c.2160+19G= (n.2160+19G=)
2g.96292955A>CCA2660186047SNRNP200c.2160+17T>G (n.2160+17T>G)
gnomAD v4
2g.96292956T>ACA2751317025SNRNP200c.2160+16A>T (n.2160+16A>T)
2g.96292961C=CA1272543459SNRNP200c.2160+11G= (n.2160+11G=)
2g.96292961C>TCA1778764SNRNP200c.2160+11G>A (n.2160+11G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96292963C>ACA1033977774SNRNP200c.2160+9G>T (n.2160+9G>T)
dbSNP gnomAD v3 gnomAD v4
2g.96292963C=CA1272543460SNRNP200c.2160+9G= (n.2160+9G=)
2g.96292963C>TCA1778765SNRNP200c.2160+9G>A (n.2160+9G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96292964G>ACA52399750SNRNP200c.2160+8C>T (n.2160+8C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96292964G=CA1272543461SNRNP200c.2160+8C= (n.2160+8C=)
2g.96292964G>TCA1778766SNRNP200c.2160+8C>A (n.2160+8C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96292965G>ACA534376429SNRNP200c.2160+7C>T (n.2160+7C>T)
dbSNP gnomAD v2 gnomAD v4
2g.96292965G=CA1272543462SNRNP200c.2160+7C= (n.2160+7C=)
2g.96292968A=CA1272543463SNRNP200c.2160+4T= (n.2160+4T=)
2g.96292968A>GCA534376430SNRNP200c.2160+4T>C (n.2160+4T>C)
dbSNP gnomAD v2
2g.96292969A>CCA2660186061SNRNP200c.2160+3T>G (n.2160+3T>G)
gnomAD v4
2g.96292970A>CCA347678874SNRNP200c.2160+2T>G (n.2160+2T>G)
2g.96292970A>GCA347678880SNRNP200c.2160+2T>C (n.2160+2T>C)
2g.96292970A>TCA347678883SNRNP200c.2160+2T>A (n.2160+2T>A)
2g.96292971C>ACA347678886SNRNP200c.2160+1G>T (n.2160+1G>T)
2g.96292971C>GCA347678888SNRNP200c.2160+1G>C (n.2160+1G>C)
2g.96292971C>TCA347678891SNRNP200c.2160+1G>A (n.2160+1G>A)
2g.96292972C>ACA347678895SNRNP200c.2160G>T (p.Gln720His)
2g.96292972C>GCA347678894SNRNP200c.2160G>C (p.Gln720His)
2g.96292972C>TCA427499972SNRNP200c.2160G>A (p.Gln720=)
2g.96292973T>ACA347678898SNRNP200c.2159A>T (p.Gln720Leu)
2g.96292973T>CCA347678901SNRNP200c.2159A>G (p.Gln720Arg)
2g.96292973T>GCA347678904SNRNP200c.2159A>C (p.Gln720Pro)
2g.96292974G>ACA347678907SNRNP200c.2158C>T (p.Gln720Ter)
2g.96292974G>CCA347678910SNRNP200c.2158C>G (p.Gln720Glu)
2g.96292974G>TCA347678912SNRNP200c.2158C>A (p.Gln720Lys)
2g.96292975A=CA1272543464SNRNP200c.2157T= (p.Asn719=)
2g.96292975A>CCA347678914SNRNP200c.2157T>G (p.Asn719Lys)
2g.96292975A>GCA427499974SNRNP200c.2157T>C (p.Asn719=)
dbSNP gnomAD v2
2g.96292975A>TCA347678915SNRNP200c.2157T>A (p.Asn719Lys)
2g.96292976T>ACA347678919SNRNP200c.2156A>T (p.Asn719Ile)
2g.96292976T>CCA347678921SNRNP200c.2156A>G (p.Asn719Ser)
dbSNP gnomAD v2 gnomAD v4
2g.96292976T>GCA347678924SNRNP200c.2156A>C (p.Asn719Thr)
2g.96292976T=CA1272543465SNRNP200c.2156A= (p.Asn719=)
2g.96292977T>ACA347678925SNRNP200c.2155A>T (p.Asn719Tyr)
2g.96292977T>CCA1778767SNRNP200c.2155A>G (p.Asn719Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.96292977T>GCA347678927SNRNP200c.2155A>C (p.Asn719His)
2g.96292977T=CA1272543466SNRNP200c.2155A= (p.Asn719=)
2g.96292978T>ACA347678931SNRNP200c.2154A>T (p.Lys718Asn)
2g.96292978T>CCA427499977SNRNP200c.2154A>G (p.Lys718=)
2g.96292978T>GCA347678928SNRNP200c.2154A>C (p.Lys718Asn)
2g.96292979T>ACA347678932SNRNP200c.2153A>T (p.Lys718Ile)
2g.96292979T>CCA347678938SNRNP200c.2153A>G (p.Lys718Arg)
2g.96292979T>GCA347678935SNRNP200c.2153A>C (p.Lys718Thr)
2g.96292980T>ACA347678942SNRNP200c.2152A>T (p.Lys718Ter)
2g.96292980T>CCA347678947SNRNP200c.2152A>G (p.Lys718Glu)
2g.96292980T>GCA347678944SNRNP200c.2152A>C (p.Lys718Gln)
2g.96292981T>ACA427499982SNRNP200c.2151A>T (p.Gly717=)
2g.96292981T>CCA427499983SNRNP200c.2151A>G (p.Gly717=)
dbSNP gnomAD v4
2g.96292981T>GCA427499984SNRNP200c.2151A>C (p.Gly717=)
2g.96292981T=CA1272543467SNRNP200c.2151A= (p.Gly717=)
2g.96292982C>ACA347678949SNRNP200c.2150G>T (p.Gly717Val)
2g.96292982C>GCA347678952SNRNP200c.2150G>C (p.Gly717Ala)
2g.96292982C>TCA347678954SNRNP200c.2150G>A (p.Gly717Glu)
COSMIC
2g.96292983C>ACA347678957SNRNP200c.2149G>T (p.Gly717Ter)
2g.96292983C>GCA347678960SNRNP200c.2149G>C (p.Gly717Arg)
2g.96292983C>TCA347678962SNRNP200c.2149G>A (p.Gly717Arg)
2g.96292984A>CCA427499985SNRNP200c.2148T>G (p.Ala716=)
2g.96292984A>GCA427499986SNRNP200c.2148T>C (p.Ala716=)
2g.96292984A>TCA427499987SNRNP200c.2148T>A (p.Ala716=)
2g.96292985G>ACA347678965SNRNP200c.2147C>T (p.Ala716Val)
2g.96292985G>CCA347678967SNRNP200c.2147C>G (p.Ala716Gly)
2g.96292985G>TCA347678969SNRNP200c.2147C>A (p.Ala716Asp)
2g.96292986C>ACA347678972SNRNP200c.2146G>T (p.Ala716Ser)
2g.96292986C>GCA347678974SNRNP200c.2146G>C (p.Ala716Pro)
2g.96292986C>TCA347678977SNRNP200c.2146G>A (p.Ala716Thr)
2g.96292987A>CCA347678982SNRNP200c.2145T>G (p.His715Gln)
2g.96292987A>GCA427499988SNRNP200c.2145T>C (p.His715=)
2g.96292987A>TCA347678980SNRNP200c.2145T>A (p.His715Gln)
2g.96292988T>ACA347678986SNRNP200c.2144A>T (p.His715Leu)
2g.96292988T>CCA347678989SNRNP200c.2144A>G (p.His715Arg)
ClinVar gnomAD v4
2g.96292988T>GCA347678991SNRNP200c.2144A>C (p.His715Pro)
2g.96292989G>ACA1778768SNRNP200c.2143C>T (p.His715Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.96292989G>CCA347678994SNRNP200c.2143C>G (p.His715Asp)
2g.96292989G=CA1272543468SNRNP200c.2143C= (p.His715=)
2g.96292989G>TCA1778769SNRNP200c.2143C>A (p.His715Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96292990T>ACA347678998SNRNP200c.2142A>T (p.Glu714Asp)
gnomAD v4
2g.96292990T>CCA427499989SNRNP200c.2142A>G (p.Glu714=)
gnomAD v4
2g.96292990T>GCA347679000SNRNP200c.2142A>C (p.Glu714Asp)
2g.96292991T>ACA347679006SNRNP200c.2141A>T (p.Glu714Val)
2g.96292991T>CCA347679008SNRNP200c.2141A>G (p.Glu714Gly)
dbSNP
2g.96292991T>GCA347679011SNRNP200c.2141A>C (p.Glu714Ala)
2g.96292992C>ACA347679018SNRNP200c.2140G>T (p.Glu714Ter)
2g.96292992C=CA1272543469SNRNP200c.2140G= (p.Glu714=)
2g.96292992C>GCA1778770SNRNP200c.2140G>C (p.Glu714Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96292992C>TCA347679014SNRNP200c.2140G>A (p.Glu714Lys)
2g.96292993C>ACA347679021SNRNP200c.2139G>T (p.Met713Ile)
2g.96292993C>GCA347679022SNRNP200c.2139G>C (p.Met713Ile)
2g.96292993C>TCA347679024SNRNP200c.2139G>A (p.Met713Ile)
2g.96292994A>CCA347679027SNRNP200c.2138T>G (p.Met713Arg)
2g.96292994A>GCA347679029SNRNP200c.2138T>C (p.Met713Thr)
gnomAD v4
2g.96292994A>TCA347679031SNRNP200c.2138T>A (p.Met713Lys)
2g.96292995T>ACA347679033SNRNP200c.2137A>T (p.Met713Leu)
2g.96292995T>CCA347679036SNRNP200c.2137A>G (p.Met713Val)
2g.96292995T>GCA347679038SNRNP200c.2137A>C (p.Met713Leu)
2g.96292996G>ACA427499998SNRNP200c.2136C>T (p.Ile712=)
2g.96292996G>CCA347679040SNRNP200c.2136C>G (p.Ile712Met)
2g.96292996G=CA1272543470SNRNP200c.2136C= (p.Ile712=)
2g.96292996G>TCA1778771SNRNP200c.2136C>A (p.Ile712=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.96292997A=CA1272543471SNRNP200c.2135T= (p.Ile712=)
2g.96292997A>CCA347679052SNRNP200c.2135T>G (p.Ile712Ser)
2g.96292997A>GCA347679050SNRNP200c.2135T>C (p.Ile712Thr)
dbSNP gnomAD v3 gnomAD v4
2g.96292997A>TCA347679045SNRNP200c.2135T>A (p.Ile712Asn)
2g.96292998T>ACA347679055SNRNP200c.2134A>T (p.Ile712Phe)
2g.96292998T>CCA347679059SNRNP200c.2134A>G (p.Ile712Val)
gnomAD v4
2g.96292998T>GCA347679070SNRNP200c.2134A>C (p.Ile712Leu)
dbSNP
2g.96292998T=CA1272543472SNRNP200c.2134A= (p.Ile712=)
2g.96293003delCA2660186111SNRNP200c.2134del (p.Ile712SerfsTer?)
gnomAD v4
2g.96292999T>ACA347679072SNRNP200c.2133A>T (p.Lys711Asn)
dbSNP gnomAD v3 gnomAD v4
2g.96292999T>CCA427500001SNRNP200c.2133A>G (p.Lys711=)
2g.96292999T>GCA347679074SNRNP200c.2133A>C (p.Lys711Asn)
2g.96292999T=CA1272543473SNRNP200c.2133A= (p.Lys711=)
2g.96293000T>ACA347679077SNRNP200c.2132A>T (p.Lys711Ile)
2g.96293000T>CCA347679079SNRNP200c.2132A>G (p.Lys711Arg)
2g.96293000T>GCA347679081SNRNP200c.2132A>C (p.Lys711Thr)
2g.96293001T>ACA347679082SNRNP200c.2131A>T (p.Lys711Ter)
2g.96293001T>CCA347679084SNRNP200c.2131A>G (p.Lys711Glu)
gnomAD v4
2g.96293001T>GCA347679088SNRNP200c.2131A>C (p.Lys711Gln)
2g.96293002T>ACA347679091SNRNP200c.2130A>T (p.Glu710Asp)
2g.96293002T>CCA427500007SNRNP200c.2130A>G (p.Glu710=)
gnomAD v4
2g.96293002T>GCA347679093SNRNP200c.2130A>C (p.Glu710Asp)
2g.96293003T>ACA347679105SNRNP200c.2129A>T (p.Glu710Val)
2g.96293003T>CCA347679100SNRNP200c.2129A>G (p.Glu710Gly)
2g.96293003T>GCA347679097SNRNP200c.2129A>C (p.Glu710Ala)
dbSNP COSMIC
2g.96293004C>ACA347679109SNRNP200c.2128G>T (p.Glu710Ter)
2g.96293004C>GCA347679106SNRNP200c.2128G>C (p.Glu710Gln)
2g.96293004C>TCA347679110SNRNP200c.2128G>A (p.Glu710Lys)
2g.96293005A=CA1272543474SNRNP200c.2127T= (p.Tyr709=)
2g.96293005A>CCA347679113SNRNP200c.2127T>G (p.Tyr709Ter)
2g.96293005A>GCA52399798SNRNP200c.2127T>C (p.Tyr709=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96293005A>TCA347679116SNRNP200c.2127T>A (p.Tyr709Ter)
2g.96293006T>ACA347679119SNRNP200c.2126A>T (p.Tyr709Phe)
COSMIC
2g.96293006T>CCA347679122SNRNP200c.2126A>G (p.Tyr709Cys)
2g.96293006T>GCA347679124SNRNP200c.2126A>C (p.Tyr709Ser)
2g.96293007A>CCA347679128SNRNP200c.2125T>G (p.Tyr709Asp)
2g.96293007A>GCA347679130SNRNP200c.2125T>C (p.Tyr709His)
2g.96293007A>TCA347679132SNRNP200c.2125T>A (p.Tyr709Asn)
2g.96293008G>ACA427500015SNRNP200c.2124C>T (p.Val708=)
gnomAD v4
2g.96293008G>CCA1778772SNRNP200c.2124C>G (p.Val708=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96293008G=CA1272543475SNRNP200c.2124C= (p.Val708=)
2g.96293008G>TCA427500018SNRNP200c.2124C>A (p.Val708=)
2g.96293009A>CCA347679136SNRNP200c.2123T>G (p.Val708Gly)
2g.96293009A>GCA347679139SNRNP200c.2123T>C (p.Val708Ala)
2g.96293009A>TCA347679141SNRNP200c.2123T>A (p.Val708Asp)
2g.96293010C>ACA347679145SNRNP200c.2122G>T (p.Val708Phe)
2g.96293010C=CA1272543476SNRNP200c.2122G= (p.Val708=)
2g.96293010C>GCA347679149SNRNP200c.2122G>C (p.Val708Leu)
2g.96293010C>TCA1778773SNRNP200c.2122G>A (p.Val708Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96293011G>ACA1778774SNRNP200c.2121C>T (p.Ile707=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.96293011G>CCA347679160SNRNP200c.2121C>G (p.Ile707Met)
2g.96293011G=CA1272543477SNRNP200c.2121C= (p.Ile707=)
2g.96293011G>TCA427500023SNRNP200c.2121C>A (p.Ile707=)
ClinVar dbSNP
2g.96293012A>CCA347679165SNRNP200c.2120T>G (p.Ile707Ser)
2g.96293012A>GCA347679167SNRNP200c.2120T>C (p.Ile707Thr)
2g.96293012A>TCA347679169SNRNP200c.2120T>A (p.Ile707Asn)
2g.96293013T>ACA347679170SNRNP200c.2119A>T (p.Ile707Phe)
2g.96293013T>CCA347679173SNRNP200c.2119A>G (p.Ile707Val)
2g.96293013T>GCA52399805SNRNP200c.2119A>C (p.Ile707Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96293013T=CA1272543478SNRNP200c.2119A= (p.Ile707=)
2g.96293014T>ACA347679177SNRNP200c.2118A>T (p.Glu706Asp)
2g.96293014T>CCA427500029SNRNP200c.2118A>G (p.Glu706=)
2g.96293014T>GCA347679180SNRNP200c.2118A>C (p.Glu706Asp)
2g.96293015T>ACA347679185SNRNP200c.2117A>T (p.Glu706Val)
2g.96293015T>CCA347679186SNRNP200c.2117A>G (p.Glu706Gly)
2g.96293015T>GCA347679183SNRNP200c.2117A>C (p.Glu706Ala)
2g.96293016C>ACA347679190SNRNP200c.2116G>T (p.Glu706Ter)
2g.96293016C>GCA347679192SNRNP200c.2116G>C (p.Glu706Gln)
2g.96293016C>TCA347679194SNRNP200c.2116G>A (p.Glu706Lys)
2g.96293017A=CA1272543479SNRNP200c.2115T= (p.Asn705=)
2g.96293017A>CCA347679196SNRNP200c.2115T>G (p.Asn705Lys)
dbSNP gnomAD v2 gnomAD v4
2g.96293017A>GCA427500038SNRNP200c.2115T>C (p.Asn705=)
2g.96293017A>TCA347679197SNRNP200c.2115T>A (p.Asn705Lys)
2g.96293018T>ACA347679206SNRNP200c.2114A>T (p.Asn705Ile)
2g.96293018T>CCA347679203SNRNP200c.2114A>G (p.Asn705Ser)
dbSNP gnomAD v4
2g.96293018T>GCA347679200SNRNP200c.2114A>C (p.Asn705Thr)
gnomAD v4
2g.96293018T=CA1272543480SNRNP200c.2114A= (p.Asn705=)
2g.96293019T>ACA347679208SNRNP200c.2113A>T (p.Asn705Tyr)
2g.96293019T>CCA347679211SNRNP200c.2113A>G (p.Asn705Asp)
2g.96293019T>GCA347679215SNRNP200c.2113A>C (p.Asn705His)
2g.96293020C>ACA347679222SNRNP200c.2112G>T (p.Met704Ile)
2g.96293020C>GCA347679225SNRNP200c.2112G>C (p.Met704Ile)
2g.96293020C>TCA347679228SNRNP200c.2112G>A (p.Met704Ile)
2g.96293021A>CCA347679232SNRNP200c.2111T>G (p.Met704Arg)
2g.96293021A>GCA347679237SNRNP200c.2111T>C (p.Met704Thr)
2g.96293021A>TCA347679234SNRNP200c.2111T>A (p.Met704Lys)
2g.96293022T>ACA347679238SNRNP200c.2110A>T (p.Met704Leu)
2g.96293022T>CCA347679240SNRNP200c.2110A>G (p.Met704Val)
dbSNP gnomAD v4
2g.96293022T>GCA347679242SNRNP200c.2110A>C (p.Met704Leu)
2g.96293022T=CA1272543481SNRNP200c.2110A= (p.Met704=)
2g.96293023G>ACA427500047SNRNP200c.2109C>T (p.Ile703=)
2g.96293023G>CCA347679245SNRNP200c.2109C>G (p.Ile703Met)
2g.96293023G>TCA427500048SNRNP200c.2109C>A (p.Ile703=)
gnomAD v4
2g.96293024A>CCA347679248SNRNP200c.2108T>G (p.Ile703Ser)
2g.96293024A>GCA347679252SNRNP200c.2108T>C (p.Ile703Thr)
2g.96293024A>TCA347679254SNRNP200c.2108T>A (p.Ile703Asn)

Number of alleles fetched