Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.73489660A=CA1260981091ALMS1c.7320A= (p.Gly2440=)
c.712A=
c.4772A=
c.1767A= (p.Gly589=)
c.7701A= (p.Gly2567=)
c.896-30115A=
c.2532A= (p.Gly844=)
c.7575A= (p.Gly2525=)
n.1504A=
c.7704A= (p.Gly2568=)
2g.73489660A>CCA426765234ALMS1c.7320A>C (p.Gly2440=)
c.712A>C
c.4772A>C
c.1767A>C (p.Gly589=)
c.7701A>C (p.Gly2567=)
c.896-30115A>C
c.2532A>C (p.Gly844=)
c.7575A>C (p.Gly2525=)
n.1504A>C
c.7704A>C (p.Gly2568=)
2g.73489660A>GCA426765236ALMS1c.7320A>G (p.Gly2440=)
c.712A>G
c.4772A>G
c.1767A>G (p.Gly589=)
c.7701A>G (p.Gly2567=)
c.896-30115A>G
c.2532A>G (p.Gly844=)
c.7575A>G (p.Gly2525=)
n.1504A>G
c.7704A>G (p.Gly2568=)
 ClinVar
2g.73489660A>TCA1714326ALMS1c.7320A>T (p.Gly2440=)
c.712A>T
c.4772A>T
c.1767A>T (p.Gly589=)
c.7701A>T (p.Gly2567=)
c.896-30115A>T
c.2532A>T (p.Gly844=)
c.7575A>T (p.Gly2525=)
n.1504A>T
c.7704A>T (p.Gly2568=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73489661T>ACA347263880ALMS1c.7321T>A (p.Cys2441Ser)
c.713T>A
c.4773T>A
c.1768T>A (p.Cys590Ser)
c.7702T>A (p.Cys2568Ser)
c.896-30114T>A
c.2533T>A (p.Cys845Ser)
c.7576T>A (p.Cys2526Ser)
n.1505T>A
c.7705T>A (p.Cys2569Ser)
2g.73489661T>CCA347263878ALMS1c.7321T>C (p.Cys2441Arg)
c.713T>C
c.4773T>C
c.1768T>C (p.Cys590Arg)
c.7702T>C (p.Cys2568Arg)
c.896-30114T>C
c.2533T>C (p.Cys845Arg)
c.7576T>C (p.Cys2526Arg)
n.1505T>C
c.7705T>C (p.Cys2569Arg)
2g.73489661T>GCA347263879ALMS1c.7321T>G (p.Cys2441Gly)
c.713T>G
c.4773T>G
c.1768T>G (p.Cys590Gly)
c.7702T>G (p.Cys2568Gly)
c.896-30114T>G
c.2533T>G (p.Cys845Gly)
c.7576T>G (p.Cys2526Gly)
n.1505T>G
c.7705T>G (p.Cys2569Gly)
 gnomAD v4
2g.73489662G>ACA347263881ALMS1c.7322G>A (p.Cys2441Tyr)
c.714G>A
c.4774G>A
c.1769G>A (p.Cys590Tyr)
c.7703G>A (p.Cys2568Tyr)
c.896-30113G>A
c.2534G>A (p.Cys845Tyr)
c.7577G>A (p.Cys2526Tyr)
n.1506G>A
c.7706G>A (p.Cys2569Tyr)
 dbSNP gnomAD v2 gnomAD v4
2g.73489662G>CCA347263882ALMS1c.7322G>C (p.Cys2441Ser)
c.714G>C
c.4774G>C
c.1769G>C (p.Cys590Ser)
c.7703G>C (p.Cys2568Ser)
c.896-30113G>C
c.2534G>C (p.Cys845Ser)
c.7577G>C (p.Cys2526Ser)
n.1506G>C
c.7706G>C (p.Cys2569Ser)
2g.73489662G=CA1260981092ALMS1c.7322G= (p.Cys2441=)
c.714G=
c.4774G=
c.1769G= (p.Cys590=)
c.7703G= (p.Cys2568=)
c.896-30113G=
c.2534G= (p.Cys845=)
c.7577G= (p.Cys2526=)
n.1506G=
c.7706G= (p.Cys2569=)
2g.73489662G>TCA347263883ALMS1c.7322G>T (p.Cys2441Phe)
c.714G>T
c.4774G>T
c.1769G>T (p.Cys590Phe)
c.7703G>T (p.Cys2568Phe)
c.896-30113G>T
c.2534G>T (p.Cys845Phe)
c.7577G>T (p.Cys2526Phe)
n.1506G>T
c.7706G>T (p.Cys2569Phe)
2g.73489663C>ACA347263884ALMS1c.7323C>A (p.Cys2441Ter)
c.715C>A
c.4775C>A
c.1770C>A (p.Cys590Ter)
c.7704C>A (p.Cys2568Ter)
c.896-30112C>A
c.2535C>A (p.Cys845Ter)
c.7578C>A (p.Cys2526Ter)
n.1507C>A
c.7707C>A (p.Cys2569Ter)
2g.73489663C>GCA347263885ALMS1c.7323C>G (p.Cys2441Trp)
c.715C>G
c.4775C>G
c.1770C>G (p.Cys590Trp)
c.7704C>G (p.Cys2568Trp)
c.896-30112C>G
c.2535C>G (p.Cys845Trp)
c.7578C>G (p.Cys2526Trp)
n.1507C>G
c.7707C>G (p.Cys2569Trp)
2g.73489663C>TCA426765250ALMS1c.7323C>T (p.Cys2441=)
c.715C>T
c.4775C>T
c.1770C>T (p.Cys590=)
c.7704C>T (p.Cys2568=)
c.896-30112C>T
c.2535C>T (p.Cys845=)
c.7578C>T (p.Cys2526=)
n.1507C>T
c.7707C>T (p.Cys2569=)
2g.73489664A>CCA347263886ALMS1c.7324A>C (p.Lys2442Gln)
c.716A>C
c.4776A>C
c.1771A>C (p.Lys591Gln)
c.7705A>C (p.Lys2569Gln)
c.896-30111A>C
c.2536A>C (p.Lys846Gln)
c.7579A>C (p.Lys2527Gln)
n.1508A>C
c.7708A>C (p.Lys2570Gln)
2g.73489664A>GCA347263888ALMS1c.7324A>G (p.Lys2442Glu)
c.716A>G
c.4776A>G
c.1771A>G (p.Lys591Glu)
c.7705A>G (p.Lys2569Glu)
c.896-30111A>G
c.2536A>G (p.Lys846Glu)
c.7579A>G (p.Lys2527Glu)
n.1508A>G
c.7708A>G (p.Lys2570Glu)
2g.73489664A>TCA347263887ALMS1c.7324A>T (p.Lys2442Ter)
c.716A>T
c.4776A>T
c.1771A>T (p.Lys591Ter)
c.7705A>T (p.Lys2569Ter)
c.896-30111A>T
c.2536A>T (p.Lys846Ter)
c.7579A>T (p.Lys2527Ter)
n.1508A>T
c.7708A>T (p.Lys2570Ter)
2g.73489665A>CCA347263889ALMS1c.7325A>C (p.Lys2442Thr)
c.717A>C
c.4777A>C
c.1772A>C (p.Lys591Thr)
c.7706A>C (p.Lys2569Thr)
c.896-30110A>C
c.2537A>C (p.Lys846Thr)
c.7580A>C (p.Lys2527Thr)
n.1509A>C
c.7709A>C (p.Lys2570Thr)
2g.73489665A>GCA347263890ALMS1c.7325A>G (p.Lys2442Arg)
c.717A>G
c.4777A>G
c.1772A>G (p.Lys591Arg)
c.7706A>G (p.Lys2569Arg)
c.896-30110A>G
c.2537A>G (p.Lys846Arg)
c.7580A>G (p.Lys2527Arg)
n.1509A>G
c.7709A>G (p.Lys2570Arg)
2g.73489665A>TCA347263891ALMS1c.7325A>T (p.Lys2442Met)
c.717A>T
c.4777A>T
c.1772A>T (p.Lys591Met)
c.7706A>T (p.Lys2569Met)
c.896-30110A>T
c.2537A>T (p.Lys846Met)
c.7580A>T (p.Lys2527Met)
n.1509A>T
c.7709A>T (p.Lys2570Met)
2g.73489666G>ACA426765260ALMS1c.7326G>A (p.Lys2442=)
c.718G>A
c.4778G>A
c.1773G>A (p.Lys591=)
c.7707G>A (p.Lys2569=)
c.896-30109G>A
c.2538G>A (p.Lys846=)
c.7581G>A (p.Lys2527=)
n.1510G>A
c.7710G>A (p.Lys2570=)
 gnomAD v4
2g.73489666G>CCA347263892ALMS1c.7326G>C (p.Lys2442Asn)
c.718G>C
c.4778G>C
c.1773G>C (p.Lys591Asn)
c.7707G>C (p.Lys2569Asn)
c.896-30109G>C
c.2538G>C (p.Lys846Asn)
c.7581G>C (p.Lys2527Asn)
n.1510G>C
c.7710G>C (p.Lys2570Asn)
2g.73489666G>TCA347263893ALMS1c.7326G>T (p.Lys2442Asn)
c.718G>T
c.4778G>T
c.1773G>T (p.Lys591Asn)
c.7707G>T (p.Lys2569Asn)
c.896-30109G>T
c.2538G>T (p.Lys846Asn)
c.7581G>T (p.Lys2527Asn)
n.1510G>T
c.7710G>T (p.Lys2570Asn)
2g.73489667C>ACA347263894ALMS1c.7327C>A (p.Pro2443Thr)
c.719C>A
c.4779C>A
c.1774C>A (p.Pro592Thr)
c.7708C>A (p.Pro2570Thr)
c.896-30108C>A
c.2539C>A (p.Pro847Thr)
c.7582C>A (p.Pro2528Thr)
n.1511C>A
c.7711C>A (p.Pro2571Thr)
2g.73489667C>GCA347263895ALMS1c.7327C>G (p.Pro2443Ala)
c.719C>G
c.4779C>G
c.1774C>G (p.Pro592Ala)
c.7708C>G (p.Pro2570Ala)
c.896-30108C>G
c.2539C>G (p.Pro847Ala)
c.7582C>G (p.Pro2528Ala)
n.1511C>G
c.7711C>G (p.Pro2571Ala)
2g.73489667C>TCA347263896ALMS1c.7327C>T (p.Pro2443Ser)
c.719C>T
c.4779C>T
c.1774C>T (p.Pro592Ser)
c.7708C>T (p.Pro2570Ser)
c.896-30108C>T
c.2539C>T (p.Pro847Ser)
c.7582C>T (p.Pro2528Ser)
n.1511C>T
c.7711C>T (p.Pro2571Ser)
2g.73489668C>ACA347263897ALMS1c.7328C>A (p.Pro2443Gln)
c.720C>A
c.4780C>A
c.1775C>A (p.Pro592Gln)
c.7709C>A (p.Pro2570Gln)
c.896-30107C>A
c.2540C>A (p.Pro847Gln)
c.7583C>A (p.Pro2528Gln)
n.1512C>A
c.7712C>A (p.Pro2571Gln)
2g.73489668C>GCA347263898ALMS1c.7328C>G (p.Pro2443Arg)
c.720C>G
c.4780C>G
c.1775C>G (p.Pro592Arg)
c.7709C>G (p.Pro2570Arg)
c.896-30107C>G
c.2540C>G (p.Pro847Arg)
c.7583C>G (p.Pro2528Arg)
n.1512C>G
c.7712C>G (p.Pro2571Arg)
 ClinVar
2g.73489668C>TCA347263899ALMS1c.7328C>T (p.Pro2443Leu)
c.720C>T
c.4780C>T
c.1775C>T (p.Pro592Leu)
c.7709C>T (p.Pro2570Leu)
c.896-30107C>T
c.2540C>T (p.Pro847Leu)
c.7583C>T (p.Pro2528Leu)
n.1512C>T
c.7712C>T (p.Pro2571Leu)
 ClinVar
2g.73489669A=CA1260981093ALMS1c.7329A= (p.Pro2443=)
c.721A=
c.4781A=
c.1776A= (p.Pro592=)
c.7710A= (p.Pro2570=)
c.896-30106A=
c.2541A= (p.Pro847=)
c.7584A= (p.Pro2528=)
n.1513A=
c.7713A= (p.Pro2571=)
2g.73489669A>CCA1714327ALMS1c.7329A>C (p.Pro2443=)
c.721A>C
c.4781A>C
c.1776A>C (p.Pro592=)
c.7710A>C (p.Pro2570=)
c.896-30106A>C
c.2541A>C (p.Pro847=)
c.7584A>C (p.Pro2528=)
n.1513A>C
c.7713A>C (p.Pro2571=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489669A>GCA426765284ALMS1c.7329A>G (p.Pro2443=)
c.721A>G
c.4781A>G
c.1776A>G (p.Pro592=)
c.7710A>G (p.Pro2570=)
c.896-30106A>G
c.2541A>G (p.Pro847=)
c.7584A>G (p.Pro2528=)
n.1513A>G
c.7713A>G (p.Pro2571=)
 ClinVar dbSNP gnomAD v4
2g.73489669A>TCA426765285ALMS1c.7329A>T (p.Pro2443=)
c.721A>T
c.4781A>T
c.1776A>T (p.Pro592=)
c.7710A>T (p.Pro2570=)
c.896-30106A>T
c.2541A>T (p.Pro847=)
c.7584A>T (p.Pro2528=)
n.1513A>T
c.7713A>T (p.Pro2571=)
2g.73489670G>ACA347263902ALMS1c.7330G>A (p.Glu2444Lys)
c.722G>A
c.4782G>A
c.1777G>A (p.Glu593Lys)
c.7711G>A (p.Glu2571Lys)
c.896-30105G>A
c.2542G>A (p.Glu848Lys)
c.7585G>A (p.Glu2529Lys)
n.1514G>A
c.7714G>A (p.Glu2572Lys)
2g.73489670G>CCA347263901ALMS1c.7330G>C (p.Glu2444Gln)
c.722G>C
c.4782G>C
c.1777G>C (p.Glu593Gln)
c.7711G>C (p.Glu2571Gln)
c.896-30105G>C
c.2542G>C (p.Glu848Gln)
c.7585G>C (p.Glu2529Gln)
n.1514G>C
c.7714G>C (p.Glu2572Gln)
2g.73489670G>TCA347263900ALMS1c.7330G>T (p.Glu2444Ter)
c.722G>T
c.4782G>T
c.1777G>T (p.Glu593Ter)
c.7711G>T (p.Glu2571Ter)
c.896-30105G>T
c.2542G>T (p.Glu848Ter)
c.7585G>T (p.Glu2529Ter)
n.1514G>T
c.7714G>T (p.Glu2572Ter)
2g.73489671A>CCA347263903ALMS1c.7331A>C (p.Glu2444Ala)
c.723A>C
c.4783A>C
c.1778A>C (p.Glu593Ala)
c.7712A>C (p.Glu2571Ala)
c.896-30104A>C
c.2543A>C (p.Glu848Ala)
c.7586A>C (p.Glu2529Ala)
n.1515A>C
c.7715A>C (p.Glu2572Ala)
2g.73489671A>GCA347263904ALMS1c.7331A>G (p.Glu2444Gly)
c.723A>G
c.4783A>G
c.1778A>G (p.Glu593Gly)
c.7712A>G (p.Glu2571Gly)
c.896-30104A>G
c.2543A>G (p.Glu848Gly)
c.7586A>G (p.Glu2529Gly)
n.1515A>G
c.7715A>G (p.Glu2572Gly)
2g.73489671A>TCA347263905ALMS1c.7331A>T (p.Glu2444Val)
c.723A>T
c.4783A>T
c.1778A>T (p.Glu593Val)
c.7712A>T (p.Glu2571Val)
c.896-30104A>T
c.2543A>T (p.Glu848Val)
c.7586A>T (p.Glu2529Val)
n.1515A>T
c.7715A>T (p.Glu2572Val)
2g.73489672delCA2586969417ALMS1c.7332del (p.Ala2445LeufsTer19)
c.724del
c.4784del
c.1779del (p.Ala594LeufsTer19)
c.7713del (p.Ala2572LeufsTer19)
c.896-30103del
c.2544del (p.Ala849LeufsTer19)
c.7587del (p.Ala2530LeufsTer19)
n.1516del
c.7716del (p.Ala2573LeufsTer19)
2g.73489672A>CCA347263906ALMS1c.7332A>C (p.Glu2444Asp)
c.724A>C
c.4784A>C
c.1779A>C (p.Glu593Asp)
c.7713A>C (p.Glu2571Asp)
c.896-30103A>C
c.2544A>C (p.Glu848Asp)
c.7587A>C (p.Glu2529Asp)
n.1516A>C
c.7716A>C (p.Glu2572Asp)
2g.73489672A>GCA426765294ALMS1c.7332A>G (p.Glu2444=)
c.724A>G
c.4784A>G
c.1779A>G (p.Glu593=)
c.7713A>G (p.Glu2571=)
c.896-30103A>G
c.2544A>G (p.Glu848=)
c.7587A>G (p.Glu2529=)
n.1516A>G
c.7716A>G (p.Glu2572=)
 ClinVar
2g.73489672A>TCA347263907ALMS1c.7332A>T (p.Glu2444Asp)
c.724A>T
c.4784A>T
c.1779A>T (p.Glu593Asp)
c.7713A>T (p.Glu2571Asp)
c.896-30103A>T
c.2544A>T (p.Glu848Asp)
c.7587A>T (p.Glu2529Asp)
n.1516A>T
c.7716A>T (p.Glu2572Asp)
2g.73489673G>ACA347263910ALMS1c.7333G>A (p.Ala2445Thr)
c.725G>A
c.4785G>A
c.1780G>A (p.Ala594Thr)
c.7714G>A (p.Ala2572Thr)
c.896-30102G>A
c.2545G>A (p.Ala849Thr)
c.7588G>A (p.Ala2530Thr)
n.1517G>A
c.7717G>A (p.Ala2573Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73489673G>CCA347263909ALMS1c.7333G>C (p.Ala2445Pro)
c.725G>C
c.4785G>C
c.1780G>C (p.Ala594Pro)
c.7714G>C (p.Ala2572Pro)
c.896-30102G>C
c.2545G>C (p.Ala849Pro)
c.7588G>C (p.Ala2530Pro)
n.1517G>C
c.7717G>C (p.Ala2573Pro)
2g.73489673G=CA1260981094ALMS1c.7333G= (p.Ala2445=)
c.725G=
c.4785G=
c.1780G= (p.Ala594=)
c.7714G= (p.Ala2572=)
c.896-30102G=
c.2545G= (p.Ala849=)
c.7588G= (p.Ala2530=)
n.1517G=
c.7717G= (p.Ala2573=)
2g.73489673G>TCA347263908ALMS1c.7333G>T (p.Ala2445Ser)
c.725G>T
c.4785G>T
c.1780G>T (p.Ala594Ser)
c.7714G>T (p.Ala2572Ser)
c.896-30102G>T
c.2545G>T (p.Ala849Ser)
c.7588G>T (p.Ala2530Ser)
n.1517G>T
c.7717G>T (p.Ala2573Ser)
2g.73489674C>ACA347263911ALMS1c.7334C>A (p.Ala2445Asp)
c.726C>A
c.4786C>A
c.1781C>A (p.Ala594Asp)
c.7715C>A (p.Ala2572Asp)
c.896-30101C>A
c.2546C>A (p.Ala849Asp)
c.7589C>A (p.Ala2530Asp)
n.1518C>A
c.7718C>A (p.Ala2573Asp)
2g.73489674C=CA1260981095ALMS1c.7334C= (p.Ala2445=)
c.726C=
c.4786C=
c.1781C= (p.Ala594=)
c.7715C= (p.Ala2572=)
c.896-30101C=
c.2546C= (p.Ala849=)
c.7589C= (p.Ala2530=)
n.1518C=
c.7718C= (p.Ala2573=)
2g.73489674C>GCA1714328ALMS1c.7334C>G (p.Ala2445Gly)
c.726C>G
c.4786C>G
c.1781C>G (p.Ala594Gly)
c.7715C>G (p.Ala2572Gly)
c.896-30101C>G
c.2546C>G (p.Ala849Gly)
c.7589C>G (p.Ala2530Gly)
n.1518C>G
c.7718C>G (p.Ala2573Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489674C>TCA347263912ALMS1c.7334C>T (p.Ala2445Val)
c.726C>T
c.4786C>T
c.1781C>T (p.Ala594Val)
c.7715C>T (p.Ala2572Val)
c.896-30101C>T
c.2546C>T (p.Ala849Val)
c.7589C>T (p.Ala2530Val)
n.1518C>T
c.7718C>T (p.Ala2573Val)
2g.73489675T>ACA426765308ALMS1c.7335T>A (p.Ala2445=)
c.727T>A
c.4787T>A
c.1782T>A (p.Ala594=)
c.7716T>A (p.Ala2572=)
c.896-30100T>A
c.2547T>A (p.Ala849=)
c.7590T>A (p.Ala2530=)
n.1519T>A
c.7719T>A (p.Ala2573=)
2g.73489675T>CCA426765311ALMS1c.7335T>C (p.Ala2445=)
c.727T>C
c.4787T>C
c.1782T>C (p.Ala594=)
c.7716T>C (p.Ala2572=)
c.896-30100T>C
c.2547T>C (p.Ala849=)
c.7590T>C (p.Ala2530=)
n.1519T>C
c.7719T>C (p.Ala2573=)
2g.73489675T>GCA426765313ALMS1c.7335T>G (p.Ala2445=)
c.727T>G
c.4787T>G
c.1782T>G (p.Ala594=)
c.7716T>G (p.Ala2572=)
c.896-30100T>G
c.2547T>G (p.Ala849=)
c.7590T>G (p.Ala2530=)
n.1519T>G
c.7719T>G (p.Ala2573=)
2g.73489676G>ACA347263913ALMS1c.7336G>A (p.Val2446Ile)
c.728G>A
c.4788G>A
c.1783G>A (p.Val595Ile)
c.7717G>A (p.Val2573Ile)
c.896-30099G>A
c.2548G>A (p.Val850Ile)
c.7591G>A (p.Val2531Ile)
n.1520G>A
c.7720G>A (p.Val2574Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.73489676G>CCA347263914ALMS1c.7336G>C (p.Val2446Leu)
c.728G>C
c.4788G>C
c.1783G>C (p.Val595Leu)
c.7717G>C (p.Val2573Leu)
c.896-30099G>C
c.2548G>C (p.Val850Leu)
c.7591G>C (p.Val2531Leu)
n.1520G>C
c.7720G>C (p.Val2574Leu)
2g.73489676G=CA1260981096ALMS1c.7336G= (p.Val2446=)
c.728G=
c.4788G=
c.1783G= (p.Val595=)
c.7717G= (p.Val2573=)
c.896-30099G=
c.2548G= (p.Val850=)
c.7591G= (p.Val2531=)
n.1520G=
c.7720G= (p.Val2574=)
2g.73489676G>TCA347263915ALMS1c.7336G>T (p.Val2446Leu)
c.728G>T
c.4788G>T
c.1783G>T (p.Val595Leu)
c.7717G>T (p.Val2573Leu)
c.896-30099G>T
c.2548G>T (p.Val850Leu)
c.7591G>T (p.Val2531Leu)
n.1520G>T
c.7720G>T (p.Val2574Leu)
 gnomAD v4
2g.73489677T>ACA347263918ALMS1c.7337T>A (p.Val2446Glu)
c.729T>A
c.4789T>A
c.1784T>A (p.Val595Glu)
c.7718T>A (p.Val2573Glu)
c.896-30098T>A
c.2549T>A (p.Val850Glu)
c.7592T>A (p.Val2531Glu)
n.1521T>A
c.7721T>A (p.Val2574Glu)
2g.73489677T>CCA347263916ALMS1c.7337T>C (p.Val2446Ala)
c.729T>C
c.4789T>C
c.1784T>C (p.Val595Ala)
c.7718T>C (p.Val2573Ala)
c.896-30098T>C
c.2549T>C (p.Val850Ala)
c.7592T>C (p.Val2531Ala)
n.1521T>C
c.7721T>C (p.Val2574Ala)
2g.73489677T>GCA347263917ALMS1c.7337T>G (p.Val2446Gly)
c.729T>G
c.4789T>G
c.1784T>G (p.Val595Gly)
c.7718T>G (p.Val2573Gly)
c.896-30098T>G
c.2549T>G (p.Val850Gly)
c.7592T>G (p.Val2531Gly)
n.1521T>G
c.7721T>G (p.Val2574Gly)
2g.73489678A=CA1260981097ALMS1c.7338A= (p.Val2446=)
c.730A=
c.4790A=
c.1785A= (p.Val595=)
c.7719A= (p.Val2573=)
c.896-30097A=
c.2550A= (p.Val850=)
c.7593A= (p.Val2531=)
n.1522A=
c.7722A= (p.Val2574=)
2g.73489678A>CCA426765323ALMS1c.7338A>C (p.Val2446=)
c.730A>C
c.4790A>C
c.1785A>C (p.Val595=)
c.7719A>C (p.Val2573=)
c.896-30097A>C
c.2550A>C (p.Val850=)
c.7593A>C (p.Val2531=)
n.1522A>C
c.7722A>C (p.Val2574=)
2g.73489678A>GCA1714329ALMS1c.7338A>G (p.Val2446=)
c.730A>G
c.4790A>G
c.1785A>G (p.Val595=)
c.7719A>G (p.Val2573=)
c.896-30097A>G
c.2550A>G (p.Val850=)
c.7593A>G (p.Val2531=)
n.1522A>G
c.7722A>G (p.Val2574=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489678A>TCA426765325ALMS1c.7338A>T (p.Val2446=)
c.730A>T
c.4790A>T
c.1785A>T (p.Val595=)
c.7719A>T (p.Val2573=)
c.896-30097A>T
c.2550A>T (p.Val850=)
c.7593A>T (p.Val2531=)
n.1522A>T
c.7722A>T (p.Val2574=)
2g.73489678_73489681delinsATGTCA1260981098ALMS1c.7338_7341delinsATGT (p.Val2446=)
c.730_733delinsATGT
c.4790_4793delinsATGT
c.1785_1788delinsATGT (p.Val595=)
c.7719_7722delinsATGT (p.Val2573=)
c.896-30097_896-30094delinsATGT
c.2550_2553delinsATGT (p.Val850=)
c.7593_7596delinsATGT (p.Val2531=)
n.1522_1525delinsATGT
c.7722_7725delinsATGT (p.Val2574=)
2g.73489679T>ACA347263919ALMS1c.7339T>A (p.Cys2447Ser)
c.731T>A
c.4791T>A
c.1786T>A (p.Cys596Ser)
c.7720T>A (p.Cys2574Ser)
c.896-30096T>A
c.2551T>A (p.Cys851Ser)
c.7594T>A (p.Cys2532Ser)
n.1523T>A
c.7723T>A (p.Cys2575Ser)
2g.73489679T>CCA347263920ALMS1c.7339T>C (p.Cys2447Arg)
c.731T>C
c.4791T>C
c.1786T>C (p.Cys596Arg)
c.7720T>C (p.Cys2574Arg)
c.896-30096T>C
c.2551T>C (p.Cys851Arg)
c.7594T>C (p.Cys2532Arg)
n.1523T>C
c.7723T>C (p.Cys2575Arg)
2g.73489679T>GCA347263921ALMS1c.7339T>G (p.Cys2447Gly)
c.731T>G
c.4791T>G
c.1786T>G (p.Cys596Gly)
c.7720T>G (p.Cys2574Gly)
c.896-30096T>G
c.2551T>G (p.Cys851Gly)
c.7594T>G (p.Cys2532Gly)
n.1523T>G
c.7723T>G (p.Cys2575Gly)
2g.73489679_73489681delCA1260981099ALMS1c.7339_7341del (p.Cys2447del)
c.731_733del
c.4791_4793del
c.1786_1788del (p.Cys596del)
c.7720_7722del (p.Cys2574del)
c.896-30096_896-30094del
c.2551_2553del (p.Cys851del)
c.7594_7596del (p.Cys2532del)
n.1523_1525del
c.7723_7725del (p.Cys2575del)
 dbSNP
2g.73489680G>ACA1714330ALMS1c.7340G>A (p.Cys2447Tyr)
c.732G>A
c.4792G>A
c.1787G>A (p.Cys596Tyr)
c.7721G>A (p.Cys2574Tyr)
c.896-30095G>A
c.2552G>A (p.Cys851Tyr)
c.7595G>A (p.Cys2532Tyr)
n.1524G>A
c.7724G>A (p.Cys2575Tyr)
 dbSNP ExAC gnomAD v4
2g.73489680G>CCA347263922ALMS1c.7340G>C (p.Cys2447Ser)
c.732G>C
c.4792G>C
c.1787G>C (p.Cys596Ser)
c.7721G>C (p.Cys2574Ser)
c.896-30095G>C
c.2552G>C (p.Cys851Ser)
c.7595G>C (p.Cys2532Ser)
n.1524G>C
c.7724G>C (p.Cys2575Ser)
2g.73489680G=CA1260981100ALMS1c.7340G= (p.Cys2447=)
c.732G=
c.4792G=
c.1787G= (p.Cys596=)
c.7721G= (p.Cys2574=)
c.896-30095G=
c.2552G= (p.Cys851=)
c.7595G= (p.Cys2532=)
n.1524G=
c.7724G= (p.Cys2575=)
2g.73489680G>TCA347263923ALMS1c.7340G>T (p.Cys2447Phe)
c.732G>T
c.4792G>T
c.1787G>T (p.Cys596Phe)
c.7721G>T (p.Cys2574Phe)
c.896-30095G>T
c.2552G>T (p.Cys851Phe)
c.7595G>T (p.Cys2532Phe)
n.1524G>T
c.7724G>T (p.Cys2575Phe)
2g.73489681T>ACA347263924ALMS1c.7341T>A (p.Cys2447Ter)
c.733T>A
c.4793T>A
c.1788T>A (p.Cys596Ter)
c.7722T>A (p.Cys2574Ter)
c.896-30094T>A
c.2553T>A (p.Cys851Ter)
c.7596T>A (p.Cys2532Ter)
n.1525T>A
c.7725T>A (p.Cys2575Ter)
2g.73489681T>CCA426765344ALMS1c.7341T>C (p.Cys2447=)
c.733T>C
c.4793T>C
c.1788T>C (p.Cys596=)
c.7722T>C (p.Cys2574=)
c.896-30094T>C
c.2553T>C (p.Cys851=)
c.7596T>C (p.Cys2532=)
n.1525T>C
c.7725T>C (p.Cys2575=)
2g.73489681T>GCA347263925ALMS1c.7341T>G (p.Cys2447Trp)
c.733T>G
c.4793T>G
c.1788T>G (p.Cys596Trp)
c.7722T>G (p.Cys2574Trp)
c.896-30094T>G
c.2553T>G (p.Cys851Trp)
c.7596T>G (p.Cys2532Trp)
n.1525T>G
c.7725T>G (p.Cys2575Trp)
2g.73489682A>CCA347263926ALMS1c.7342A>C (p.Ser2448Arg)
c.734A>C
c.4794A>C
c.1789A>C (p.Ser597Arg)
c.7723A>C (p.Ser2575Arg)
c.896-30093A>C
c.2554A>C (p.Ser852Arg)
c.7597A>C (p.Ser2533Arg)
n.1526A>C
c.7726A>C (p.Ser2576Arg)
2g.73489682A>GCA347263927ALMS1c.7342A>G (p.Ser2448Gly)
c.734A>G
c.4794A>G
c.1789A>G (p.Ser597Gly)
c.7723A>G (p.Ser2575Gly)
c.896-30093A>G
c.2554A>G (p.Ser852Gly)
c.7597A>G (p.Ser2533Gly)
n.1526A>G
c.7726A>G (p.Ser2576Gly)
2g.73489682A>TCA347263928ALMS1c.7342A>T (p.Ser2448Cys)
c.734A>T
c.4794A>T
c.1789A>T (p.Ser597Cys)
c.7723A>T (p.Ser2575Cys)
c.896-30093A>T
c.2554A>T (p.Ser852Cys)
c.7597A>T (p.Ser2533Cys)
n.1526A>T
c.7726A>T (p.Ser2576Cys)
2g.73489682_73489683delinsAGCA1260981101ALMS1c.7342_7343delinsAG (p.Ser2448=)
c.734_735delinsAG
c.4794_4795delinsAG
c.1789_1790delinsAG (p.Ser597=)
c.7723_7724delinsAG (p.Ser2575=)
c.896-30093_896-30092delinsAG
c.2554_2555delinsAG (p.Ser852=)
c.7597_7598delinsAG (p.Ser2533=)
n.1526_1527delinsAG
c.7726_7727delinsAG (p.Ser2576=)
2g.73489683delCA1260981103ALMS1c.7343del (p.Ser2448IlefsTer16)
c.735del
c.4795del
c.1790del (p.Ser597IlefsTer16)
c.7724del (p.Ser2575IlefsTer16)
c.896-30092del
c.2555del (p.Ser852IlefsTer16)
c.7598del (p.Ser2533IlefsTer16)
n.1527del
c.7727del (p.Ser2576IlefsTer16)
 dbSNP
2g.73489683G>ACA1714331ALMS1c.7343G>A (p.Ser2448Asn)
c.735G>A
c.4795G>A
c.1790G>A (p.Ser597Asn)
c.7724G>A (p.Ser2575Asn)
c.896-30092G>A
c.2555G>A (p.Ser852Asn)
c.7598G>A (p.Ser2533Asn)
n.1527G>A
c.7727G>A (p.Ser2576Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489683G>CCA347263929ALMS1c.7343G>C (p.Ser2448Thr)
c.735G>C
c.4795G>C
c.1790G>C (p.Ser597Thr)
c.7724G>C (p.Ser2575Thr)
c.896-30092G>C
c.2555G>C (p.Ser852Thr)
c.7598G>C (p.Ser2533Thr)
n.1527G>C
c.7727G>C (p.Ser2576Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73489683G=CA1260981102ALMS1c.7343G= (p.Ser2448=)
c.735G=
c.4795G=
c.1790G= (p.Ser597=)
c.7724G= (p.Ser2575=)
c.896-30092G=
c.2555G= (p.Ser852=)
c.7598G= (p.Ser2533=)
n.1527G=
c.7727G= (p.Ser2576=)
2g.73489683G>TCA347263930ALMS1c.7343G>T (p.Ser2448Ile)
c.735G>T
c.4795G>T
c.1790G>T (p.Ser597Ile)
c.7724G>T (p.Ser2575Ile)
c.896-30092G>T
c.2555G>T (p.Ser852Ile)
c.7598G>T (p.Ser2533Ile)
n.1527G>T
c.7727G>T (p.Ser2576Ile)
2g.73489684T>ACA347263931ALMS1c.7344T>A (p.Ser2448Arg)
c.736T>A
c.4796T>A
c.1791T>A (p.Ser597Arg)
c.7725T>A (p.Ser2575Arg)
c.896-30091T>A
c.2556T>A (p.Ser852Arg)
c.7599T>A (p.Ser2533Arg)
n.1528T>A
c.7728T>A (p.Ser2576Arg)
 gnomAD v4
2g.73489684T>CCA426765350ALMS1c.7344T>C (p.Ser2448=)
c.736T>C
c.4796T>C
c.1791T>C (p.Ser597=)
c.7725T>C (p.Ser2575=)
c.896-30091T>C
c.2556T>C (p.Ser852=)
c.7599T>C (p.Ser2533=)
n.1528T>C
c.7728T>C (p.Ser2576=)
2g.73489684T>GCA347263932ALMS1c.7344T>G (p.Ser2448Arg)
c.736T>G
c.4796T>G
c.1791T>G (p.Ser597Arg)
c.7725T>G (p.Ser2575Arg)
c.896-30091T>G
c.2556T>G (p.Ser852Arg)
c.7599T>G (p.Ser2533Arg)
n.1528T>G
c.7728T>G (p.Ser2576Arg)
2g.73489685C>ACA347263933ALMS1c.7345C>A (p.His2449Asn)
c.737C>A
c.4797C>A
c.1792C>A (p.His598Asn)
c.7726C>A (p.His2576Asn)
c.896-30090C>A
c.2557C>A (p.His853Asn)
c.7600C>A (p.His2534Asn)
n.1529C>A
c.7729C>A (p.His2577Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.73489685C=CA1260981104ALMS1c.7345C= (p.His2449=)
c.737C=
c.4797C=
c.1792C= (p.His598=)
c.7726C= (p.His2576=)
c.896-30090C=
c.2557C= (p.His853=)
c.7600C= (p.His2534=)
n.1529C=
c.7729C= (p.His2577=)
2g.73489685C>GCA347263934ALMS1c.7345C>G (p.His2449Asp)
c.737C>G
c.4797C>G
c.1792C>G (p.His598Asp)
c.7726C>G (p.His2576Asp)
c.896-30090C>G
c.2557C>G (p.His853Asp)
c.7600C>G (p.His2534Asp)
n.1529C>G
c.7729C>G (p.His2577Asp)
 gnomAD v4
2g.73489685C>TCA347263935ALMS1c.7345C>T (p.His2449Tyr)
c.737C>T
c.4797C>T
c.1792C>T (p.His598Tyr)
c.7726C>T (p.His2576Tyr)
c.896-30090C>T
c.2557C>T (p.His853Tyr)
c.7600C>T (p.His2534Tyr)
n.1529C>T
c.7729C>T (p.His2577Tyr)
2g.73489686A>CCA347263938ALMS1c.7346A>C (p.His2449Pro)
c.738A>C
c.4798A>C
c.1793A>C (p.His598Pro)
c.7727A>C (p.His2576Pro)
c.896-30089A>C
c.2558A>C (p.His853Pro)
c.7601A>C (p.His2534Pro)
n.1530A>C
c.7730A>C (p.His2577Pro)
2g.73489686A>GCA347263937ALMS1c.7346A>G (p.His2449Arg)
c.738A>G
c.4798A>G
c.1793A>G (p.His598Arg)
c.7727A>G (p.His2576Arg)
c.896-30089A>G
c.2558A>G (p.His853Arg)
c.7601A>G (p.His2534Arg)
n.1530A>G
c.7730A>G (p.His2577Arg)
2g.73489686A>TCA347263936ALMS1c.7346A>T (p.His2449Leu)
c.738A>T
c.4798A>T
c.1793A>T (p.His598Leu)
c.7727A>T (p.His2576Leu)
c.896-30089A>T
c.2558A>T (p.His853Leu)
c.7601A>T (p.His2534Leu)
n.1530A>T
c.7730A>T (p.His2577Leu)
2g.73489687C>ACA347263939ALMS1c.7347C>A (p.His2449Gln)
c.739C>A
c.4799C>A
c.1794C>A (p.His598Gln)
c.7728C>A (p.His2576Gln)
c.896-30088C>A
c.2559C>A (p.His853Gln)
c.7602C>A (p.His2534Gln)
n.1531C>A
c.7731C>A (p.His2577Gln)
2g.73489687C=CA1260981105ALMS1c.7347C= (p.His2449=)
c.739C=
c.4799C=
c.1794C= (p.His598=)
c.7728C= (p.His2576=)
c.896-30088C=
c.2559C= (p.His853=)
c.7602C= (p.His2534=)
n.1531C=
c.7731C= (p.His2577=)
2g.73489687C>GCA347263940ALMS1c.7347C>G (p.His2449Gln)
c.739C>G
c.4799C>G
c.1794C>G (p.His598Gln)
c.7728C>G (p.His2576Gln)
c.896-30088C>G
c.2559C>G (p.His853Gln)
c.7602C>G (p.His2534Gln)
n.1531C>G
c.7731C>G (p.His2577Gln)
2g.73489687C>TCA1714332ALMS1c.7347C>T (p.His2449=)
c.739C>T
c.4799C>T
c.1794C>T (p.His598=)
c.7728C>T (p.His2576=)
c.896-30088C>T
c.2559C>T (p.His853=)
c.7602C>T (p.His2534=)
n.1531C>T
c.7731C>T (p.His2577=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73489688A=CA1260981106ALMS1c.7348A= (p.Ile2450=)
c.740A=
c.4800A=
c.1795A= (p.Ile599=)
c.7729A= (p.Ile2577=)
c.896-30087A=
c.2560A= (p.Ile854=)
c.7603A= (p.Ile2535=)
n.1532A=
c.7732A= (p.Ile2578=)
2g.73489688A>CCA347263941ALMS1c.7348A>C (p.Ile2450Leu)
c.740A>C
c.4800A>C
c.1795A>C (p.Ile599Leu)
c.7729A>C (p.Ile2577Leu)
c.896-30087A>C
c.2560A>C (p.Ile854Leu)
c.7603A>C (p.Ile2535Leu)
n.1532A>C
c.7732A>C (p.Ile2578Leu)
2g.73489688A>GCA347263942ALMS1c.7348A>G (p.Ile2450Val)
c.740A>G
c.4800A>G
c.1795A>G (p.Ile599Val)
c.7729A>G (p.Ile2577Val)
c.896-30087A>G
c.2560A>G (p.Ile854Val)
c.7603A>G (p.Ile2535Val)
n.1532A>G
c.7732A>G (p.Ile2578Val)
 ClinVar dbSNP
2g.73489688A>TCA347263943ALMS1c.7348A>T (p.Ile2450Phe)
c.740A>T
c.4800A>T
c.1795A>T (p.Ile599Phe)
c.7729A>T (p.Ile2577Phe)
c.896-30087A>T
c.2560A>T (p.Ile854Phe)
c.7603A>T (p.Ile2535Phe)
n.1532A>T
c.7732A>T (p.Ile2578Phe)
 ClinVar
2g.73489689T>ACA347263944ALMS1c.7349T>A (p.Ile2450Asn)
c.741T>A
c.4801T>A
c.1796T>A (p.Ile599Asn)
c.7730T>A (p.Ile2577Asn)
c.896-30086T>A
c.2561T>A (p.Ile854Asn)
c.7604T>A (p.Ile2535Asn)
n.1533T>A
c.7733T>A (p.Ile2578Asn)
2g.73489689T>CCA347263946ALMS1c.7349T>C (p.Ile2450Thr)
c.741T>C
c.4801T>C
c.1796T>C (p.Ile599Thr)
c.7730T>C (p.Ile2577Thr)
c.896-30086T>C
c.2561T>C (p.Ile854Thr)
c.7604T>C (p.Ile2535Thr)
n.1533T>C
c.7733T>C (p.Ile2578Thr)
2g.73489689T>GCA347263945ALMS1c.7349T>G (p.Ile2450Ser)
c.741T>G
c.4801T>G
c.1796T>G (p.Ile599Ser)
c.7730T>G (p.Ile2577Ser)
c.896-30086T>G
c.2561T>G (p.Ile854Ser)
c.7604T>G (p.Ile2535Ser)
n.1533T>G
c.7733T>G (p.Ile2578Ser)
 gnomAD v4
2g.73489690T>ACA426765373ALMS1c.7350T>A (p.Ile2450=)
c.742T>A
c.4802T>A
c.1797T>A (p.Ile599=)
c.7731T>A (p.Ile2577=)
c.896-30085T>A
c.2562T>A (p.Ile854=)
c.7605T>A (p.Ile2535=)
n.1534T>A
c.7734T>A (p.Ile2578=)
2g.73489690T>CCA426765374ALMS1c.7350T>C (p.Ile2450=)
c.742T>C
c.4802T>C
c.1797T>C (p.Ile599=)
c.7731T>C (p.Ile2577=)
c.896-30085T>C
c.2562T>C (p.Ile854=)
c.7605T>C (p.Ile2535=)
n.1534T>C
c.7734T>C (p.Ile2578=)
2g.73489690T>GCA347263947ALMS1c.7350T>G (p.Ile2450Met)
c.742T>G
c.4802T>G
c.1797T>G (p.Ile599Met)
c.7731T>G (p.Ile2577Met)
c.896-30085T>G
c.2562T>G (p.Ile854Met)
c.7605T>G (p.Ile2535Met)
n.1534T>G
c.7734T>G (p.Ile2578Met)
2g.73489691A=CA1260981107ALMS1c.7351A= (p.Ile2451=)
c.743A=
c.4803A=
c.1798A= (p.Ile600=)
c.7732A= (p.Ile2578=)
c.896-30084A=
c.2563A= (p.Ile855=)
c.7606A= (p.Ile2536=)
n.1535A=
c.7735A= (p.Ile2579=)
2g.73489691A>CCA347263948ALMS1c.7351A>C (p.Ile2451Leu)
c.743A>C
c.4803A>C
c.1798A>C (p.Ile600Leu)
c.7732A>C (p.Ile2578Leu)
c.896-30084A>C
c.2563A>C (p.Ile855Leu)
c.7606A>C (p.Ile2536Leu)
n.1535A>C
c.7735A>C (p.Ile2579Leu)
2g.73489691A>GCA347263949ALMS1c.7351A>G (p.Ile2451Val)
c.743A>G
c.4803A>G
c.1798A>G (p.Ile600Val)
c.7732A>G (p.Ile2578Val)
c.896-30084A>G
c.2563A>G (p.Ile855Val)
c.7606A>G (p.Ile2536Val)
n.1535A>G
c.7735A>G (p.Ile2579Val)
 ClinVar dbSNP
2g.73489691A>TCA347263950ALMS1c.7351A>T (p.Ile2451Phe)
c.743A>T
c.4803A>T
c.1798A>T (p.Ile600Phe)
c.7732A>T (p.Ile2578Phe)
c.896-30084A>T
c.2563A>T (p.Ile855Phe)
c.7606A>T (p.Ile2536Phe)
n.1535A>T
c.7735A>T (p.Ile2579Phe)
2g.73489692T>ACA347263951ALMS1c.7352T>A (p.Ile2451Asn)
c.744T>A
c.4804T>A
c.1799T>A (p.Ile600Asn)
c.7733T>A (p.Ile2578Asn)
c.896-30083T>A
c.2564T>A (p.Ile855Asn)
c.7607T>A (p.Ile2536Asn)
n.1536T>A
c.7736T>A (p.Ile2579Asn)
2g.73489692T>CCA347263952ALMS1c.7352T>C (p.Ile2451Thr)
c.744T>C
c.4804T>C
c.1799T>C (p.Ile600Thr)
c.7733T>C (p.Ile2578Thr)
c.896-30083T>C
c.2564T>C (p.Ile855Thr)
c.7607T>C (p.Ile2536Thr)
n.1536T>C
c.7736T>C (p.Ile2579Thr)
2g.73489692T>GCA347263953ALMS1c.7352T>G (p.Ile2451Ser)
c.744T>G
c.4804T>G
c.1799T>G (p.Ile600Ser)
c.7733T>G (p.Ile2578Ser)
c.896-30083T>G
c.2564T>G (p.Ile855Ser)
c.7607T>G (p.Ile2536Ser)
n.1536T>G
c.7736T>G (p.Ile2579Ser)
2g.73489693T>ACA426765378ALMS1c.7353T>A (p.Ile2451=)
c.745T>A
c.4805T>A
c.1800T>A (p.Ile600=)
c.7734T>A (p.Ile2578=)
c.896-30082T>A
c.2565T>A (p.Ile855=)
c.7608T>A (p.Ile2536=)
n.1537T>A
c.7737T>A (p.Ile2579=)
2g.73489693T>CCA426765379ALMS1c.7353T>C (p.Ile2451=)
c.745T>C
c.4805T>C
c.1800T>C (p.Ile600=)
c.7734T>C (p.Ile2578=)
c.896-30082T>C
c.2565T>C (p.Ile855=)
c.7608T>C (p.Ile2536=)
n.1537T>C
c.7737T>C (p.Ile2579=)
 dbSNP gnomAD v2 gnomAD v4
2g.73489693T>GCA347263954ALMS1c.7353T>G (p.Ile2451Met)
c.745T>G
c.4805T>G
c.1800T>G (p.Ile600Met)
c.7734T>G (p.Ile2578Met)
c.896-30082T>G
c.2565T>G (p.Ile855Met)
c.7608T>G (p.Ile2536Met)
n.1537T>G
c.7737T>G (p.Ile2579Met)
2g.73489693T=CA1260981108ALMS1c.7353T= (p.Ile2451=)
c.745T=
c.4805T=
c.1800T= (p.Ile600=)
c.7734T= (p.Ile2578=)
c.896-30082T=
c.2565T= (p.Ile855=)
c.7608T= (p.Ile2536=)
n.1537T=
c.7737T= (p.Ile2579=)
2g.73489694A=CA1260981109ALMS1c.7354A= (p.Ile2452=)
c.746A=
c.4806A=
c.1801A= (p.Ile601=)
c.7735A= (p.Ile2579=)
c.896-30081A=
c.2566A= (p.Ile856=)
c.7609A= (p.Ile2537=)
n.1538A=
c.7738A= (p.Ile2580=)
2g.73489694A>CCA347263955ALMS1c.7354A>C (p.Ile2452Leu)
c.746A>C
c.4806A>C
c.1801A>C (p.Ile601Leu)
c.7735A>C (p.Ile2579Leu)
c.896-30081A>C
c.2566A>C (p.Ile856Leu)
c.7609A>C (p.Ile2537Leu)
n.1538A>C
c.7738A>C (p.Ile2580Leu)
2g.73489694A>GCA347263956ALMS1c.7354A>G (p.Ile2452Val)
c.746A>G
c.4806A>G
c.1801A>G (p.Ile601Val)
c.7735A>G (p.Ile2579Val)
c.896-30081A>G
c.2566A>G (p.Ile856Val)
c.7609A>G (p.Ile2537Val)
n.1538A>G
c.7738A>G (p.Ile2580Val)
 gnomAD v4
2g.73489694A>TCA1714333ALMS1c.7354A>T (p.Ile2452Phe)
c.746A>T
c.4806A>T
c.1801A>T (p.Ile601Phe)
c.7735A>T (p.Ile2579Phe)
c.896-30081A>T
c.2566A>T (p.Ile856Phe)
c.7609A>T (p.Ile2537Phe)
n.1538A>T
c.7738A>T (p.Ile2580Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489695T>ACA347263957ALMS1c.7355T>A (p.Ile2452Asn)
c.747T>A
c.4807T>A
c.1802T>A (p.Ile601Asn)
c.7736T>A (p.Ile2579Asn)
c.896-30080T>A
c.2567T>A (p.Ile856Asn)
c.7610T>A (p.Ile2537Asn)
n.1539T>A
c.7739T>A (p.Ile2580Asn)
2g.73489695T>CCA347263959ALMS1c.7355T>C (p.Ile2452Thr)
c.747T>C
c.4807T>C
c.1802T>C (p.Ile601Thr)
c.7736T>C (p.Ile2579Thr)
c.896-30080T>C
c.2567T>C (p.Ile856Thr)
c.7610T>C (p.Ile2537Thr)
n.1539T>C
c.7739T>C (p.Ile2580Thr)
 ClinVar
2g.73489695T>GCA347263958ALMS1c.7355T>G (p.Ile2452Ser)
c.747T>G
c.4807T>G
c.1802T>G (p.Ile601Ser)
c.7736T>G (p.Ile2579Ser)
c.896-30080T>G
c.2567T>G (p.Ile856Ser)
c.7610T>G (p.Ile2537Ser)
n.1539T>G
c.7739T>G (p.Ile2580Ser)
2g.73489696T>ACA426765389ALMS1c.7356T>A (p.Ile2452=)
c.748T>A
c.4808T>A
c.1803T>A (p.Ile601=)
c.7737T>A (p.Ile2579=)
c.896-30079T>A
c.2568T>A (p.Ile856=)
c.7611T>A (p.Ile2537=)
n.1540T>A
c.7740T>A (p.Ile2580=)
2g.73489696T>CCA426765391ALMS1c.7356T>C (p.Ile2452=)
c.748T>C
c.4808T>C
c.1803T>C (p.Ile601=)
c.7737T>C (p.Ile2579=)
c.896-30079T>C
c.2568T>C (p.Ile856=)
c.7611T>C (p.Ile2537=)
n.1540T>C
c.7740T>C (p.Ile2580=)
 dbSNP gnomAD v2 gnomAD v4
2g.73489696T>GCA347263960ALMS1c.7356T>G (p.Ile2452Met)
c.748T>G
c.4808T>G
c.1803T>G (p.Ile601Met)
c.7737T>G (p.Ile2579Met)
c.896-30079T>G
c.2568T>G (p.Ile856Met)
c.7611T>G (p.Ile2537Met)
n.1540T>G
c.7740T>G (p.Ile2580Met)
2g.73489696T=CA1260981110ALMS1c.7356T= (p.Ile2452=)
c.748T=
c.4808T=
c.1803T= (p.Ile601=)
c.7737T= (p.Ile2579=)
c.896-30079T=
c.2568T= (p.Ile856=)
c.7611T= (p.Ile2537=)
n.1540T=
c.7740T= (p.Ile2580=)
2g.73489697G>ACA347263961ALMS1c.7357G>A (p.Glu2453Lys)
c.749G>A
c.4809G>A
c.1804G>A (p.Glu602Lys)
c.7738G>A (p.Glu2580Lys)
c.896-30078G>A
c.2569G>A (p.Glu857Lys)
c.7612G>A (p.Glu2538Lys)
n.1541G>A
c.7741G>A (p.Glu2581Lys)
 ClinVar
2g.73489697G>CCA347263962ALMS1c.7357G>C (p.Glu2453Gln)
c.749G>C
c.4809G>C
c.1804G>C (p.Glu602Gln)
c.7738G>C (p.Glu2580Gln)
c.896-30078G>C
c.2569G>C (p.Glu857Gln)
c.7612G>C (p.Glu2538Gln)
n.1541G>C
c.7741G>C (p.Glu2581Gln)
2g.73489697G>TCA347263963ALMS1c.7357G>T (p.Glu2453Ter)
c.749G>T
c.4809G>T
c.1804G>T (p.Glu602Ter)
c.7738G>T (p.Glu2580Ter)
c.896-30078G>T
c.2569G>T (p.Glu857Ter)
c.7612G>T (p.Glu2538Ter)
n.1541G>T
c.7741G>T (p.Glu2581Ter)
 gnomAD v4
2g.73489698A>CCA347263964ALMS1c.7358A>C (p.Glu2453Ala)
c.750A>C
c.4810A>C
c.1805A>C (p.Glu602Ala)
c.7739A>C (p.Glu2580Ala)
c.896-30077A>C
c.2570A>C (p.Glu857Ala)
c.7613A>C (p.Glu2538Ala)
n.1542A>C
c.7742A>C (p.Glu2581Ala)
2g.73489698A>GCA347263965ALMS1c.7358A>G (p.Glu2453Gly)
c.750A>G
c.4810A>G
c.1805A>G (p.Glu602Gly)
c.7739A>G (p.Glu2580Gly)
c.896-30077A>G
c.2570A>G (p.Glu857Gly)
c.7613A>G (p.Glu2538Gly)
n.1542A>G
c.7742A>G (p.Glu2581Gly)
 ClinVar dbSNP gnomAD v4
2g.73489698A>TCA347263966ALMS1c.7358A>T (p.Glu2453Val)
c.750A>T
c.4810A>T
c.1805A>T (p.Glu602Val)
c.7739A>T (p.Glu2580Val)
c.896-30077A>T
c.2570A>T (p.Glu857Val)
c.7613A>T (p.Glu2538Val)
n.1542A>T
c.7742A>T (p.Glu2581Val)
2g.73489699G>ACA1714335ALMS1c.7359G>A (p.Glu2453=)
c.751G>A
c.4811G>A
c.1806G>A (p.Glu602=)
c.7740G>A (p.Glu2580=)
c.896-30076G>A
c.2571G>A (p.Glu857=)
c.7614G>A (p.Glu2538=)
n.1543G>A
c.7743G>A (p.Glu2581=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73489699G>CCA1714334ALMS1c.7359G>C (p.Glu2453Asp)
c.751G>C
c.4811G>C
c.1806G>C (p.Glu602Asp)
c.7740G>C (p.Glu2580Asp)
c.896-30076G>C
c.2571G>C (p.Glu857Asp)
c.7614G>C (p.Glu2538Asp)
n.1543G>C
c.7743G>C (p.Glu2581Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489699G=CA1260981111ALMS1c.7359G= (p.Glu2453=)
c.751G=
c.4811G=
c.1806G= (p.Glu602=)
c.7740G= (p.Glu2580=)
c.896-30076G=
c.2571G= (p.Glu857=)
c.7614G= (p.Glu2538=)
n.1543G=
c.7743G= (p.Glu2581=)
2g.73489699G>TCA347263967ALMS1c.7359G>T (p.Glu2453Asp)
c.751G>T
c.4811G>T
c.1806G>T (p.Glu602Asp)
c.7740G>T (p.Glu2580Asp)
c.896-30076G>T
c.2571G>T (p.Glu857Asp)
c.7614G>T (p.Glu2538Asp)
n.1543G>T
c.7743G>T (p.Glu2581Asp)
2g.73489700A>CCA347263968ALMS1c.7360A>C (p.Ser2454Arg)
c.752A>C
c.4812A>C
c.1807A>C (p.Ser603Arg)
c.7741A>C (p.Ser2581Arg)
c.896-30075A>C
c.2572A>C (p.Ser858Arg)
c.7615A>C (p.Ser2539Arg)
n.1544A>C
c.7744A>C (p.Ser2582Arg)
2g.73489700A>GCA347263969ALMS1c.7360A>G (p.Ser2454Gly)
c.752A>G
c.4812A>G
c.1807A>G (p.Ser603Gly)
c.7741A>G (p.Ser2581Gly)
c.896-30075A>G
c.2572A>G (p.Ser858Gly)
c.7615A>G (p.Ser2539Gly)
n.1544A>G
c.7744A>G (p.Ser2582Gly)
2g.73489700A>TCA347263970ALMS1c.7360A>T (p.Ser2454Cys)
c.752A>T
c.4812A>T
c.1807A>T (p.Ser603Cys)
c.7741A>T (p.Ser2581Cys)
c.896-30075A>T
c.2572A>T (p.Ser858Cys)
c.7615A>T (p.Ser2539Cys)
n.1544A>T
c.7744A>T (p.Ser2582Cys)
2g.73489701G>ACA347263973ALMS1c.7361G>A (p.Ser2454Asn)
c.753G>A
c.4813G>A
c.1808G>A (p.Ser603Asn)
c.7742G>A (p.Ser2581Asn)
c.896-30074G>A
c.2573G>A (p.Ser858Asn)
c.7616G>A (p.Ser2539Asn)
n.1545G>A
c.7745G>A (p.Ser2582Asn)
 ClinVar
2g.73489701G>CCA347263972ALMS1c.7361G>C (p.Ser2454Thr)
c.753G>C
c.4813G>C
c.1808G>C (p.Ser603Thr)
c.7742G>C (p.Ser2581Thr)
c.896-30074G>C
c.2573G>C (p.Ser858Thr)
c.7616G>C (p.Ser2539Thr)
n.1545G>C
c.7745G>C (p.Ser2582Thr)
2g.73489701G>TCA347263971ALMS1c.7361G>T (p.Ser2454Ile)
c.753G>T
c.4813G>T
c.1808G>T (p.Ser603Ile)
c.7742G>T (p.Ser2581Ile)
c.896-30074G>T
c.2573G>T (p.Ser858Ile)
c.7616G>T (p.Ser2539Ile)
n.1545G>T
c.7745G>T (p.Ser2582Ile)
2g.73489702C>ACA347263974ALMS1c.7362C>A (p.Ser2454Arg)
c.754C>A
c.4814C>A
c.1809C>A (p.Ser603Arg)
c.7743C>A (p.Ser2581Arg)
c.896-30073C>A
c.2574C>A (p.Ser858Arg)
c.7617C>A (p.Ser2539Arg)
n.1546C>A
c.7746C>A (p.Ser2582Arg)
 ClinVar dbSNP gnomAD v2
2g.73489702C=CA1260981112ALMS1c.7362C= (p.Ser2454=)
c.754C=
c.4814C=
c.1809C= (p.Ser603=)
c.7743C= (p.Ser2581=)
c.896-30073C=
c.2574C= (p.Ser858=)
c.7617C= (p.Ser2539=)
n.1546C=
c.7746C= (p.Ser2582=)
2g.73489702C>GCA347263975ALMS1c.7362C>G (p.Ser2454Arg)
c.754C>G
c.4814C>G
c.1809C>G (p.Ser603Arg)
c.7743C>G (p.Ser2581Arg)
c.896-30073C>G
c.2574C>G (p.Ser858Arg)
c.7617C>G (p.Ser2539Arg)
n.1546C>G
c.7746C>G (p.Ser2582Arg)
2g.73489702C>TCA1714336ALMS1c.7362C>T (p.Ser2454=)
c.754C>T
c.4814C>T
c.1809C>T (p.Ser603=)
c.7743C>T (p.Ser2581=)
c.896-30073C>T
c.2574C>T (p.Ser858=)
c.7617C>T (p.Ser2539=)
n.1546C>T
c.7746C>T (p.Ser2582=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489703C>ACA347263976ALMS1c.7363C>A (p.His2455Asn)
c.755C>A
c.4815C>A
c.1810C>A (p.His604Asn)
c.7744C>A (p.His2582Asn)
c.896-30072C>A
c.2575C>A (p.His859Asn)
c.7618C>A (p.His2540Asn)
n.1547C>A
c.7747C>A (p.His2583Asn)
2g.73489703C>GCA347263977ALMS1c.7363C>G (p.His2455Asp)
c.755C>G
c.4815C>G
c.1810C>G (p.His604Asp)
c.7744C>G (p.His2582Asp)
c.896-30072C>G
c.2575C>G (p.His859Asp)
c.7618C>G (p.His2540Asp)
n.1547C>G
c.7747C>G (p.His2583Asp)
2g.73489703C>TCA347263978ALMS1c.7363C>T (p.His2455Tyr)
c.755C>T
c.4815C>T
c.1810C>T (p.His604Tyr)
c.7744C>T (p.His2582Tyr)
c.896-30072C>T
c.2575C>T (p.His859Tyr)
c.7618C>T (p.His2540Tyr)
n.1547C>T
c.7747C>T (p.His2583Tyr)
 ClinVar dbSNP
2g.73489704A>CCA347263979ALMS1c.7364A>C (p.His2455Pro)
c.756A>C
c.4816A>C
c.1811A>C (p.His604Pro)
c.7745A>C (p.His2582Pro)
c.896-30071A>C
c.2576A>C (p.His859Pro)
c.7619A>C (p.His2540Pro)
n.1548A>C
c.7748A>C (p.His2583Pro)
2g.73489704A>GCA347263980ALMS1c.7364A>G (p.His2455Arg)
c.756A>G
c.4816A>G
c.1811A>G (p.His604Arg)
c.7745A>G (p.His2582Arg)
c.896-30071A>G
c.2576A>G (p.His859Arg)
c.7619A>G (p.His2540Arg)
n.1548A>G
c.7748A>G (p.His2583Arg)
2g.73489704A>TCA347263981ALMS1c.7364A>T (p.His2455Leu)
c.756A>T
c.4816A>T
c.1811A>T (p.His604Leu)
c.7745A>T (p.His2582Leu)
c.896-30071A>T
c.2576A>T (p.His859Leu)
c.7619A>T (p.His2540Leu)
n.1548A>T
c.7748A>T (p.His2583Leu)
2g.73489705T>ACA347263982ALMS1c.7365T>A (p.His2455Gln)
c.757T>A
c.4817T>A
c.1812T>A (p.His604Gln)
c.7746T>A (p.His2582Gln)
c.896-30070T>A
c.2577T>A (p.His859Gln)
c.7620T>A (p.His2540Gln)
n.1549T>A
c.7749T>A (p.His2583Gln)
 dbSNP gnomAD v2 gnomAD v4
2g.73489705T>CCA426765439ALMS1c.7365T>C (p.His2455=)
c.757T>C
c.4817T>C
c.1812T>C (p.His604=)
c.7746T>C (p.His2582=)
c.896-30070T>C
c.2577T>C (p.His859=)
c.7620T>C (p.His2540=)
n.1549T>C
c.7749T>C (p.His2583=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73489705T>GCA347263983ALMS1c.7365T>G (p.His2455Gln)
c.757T>G
c.4817T>G
c.1812T>G (p.His604Gln)
c.7746T>G (p.His2582Gln)
c.896-30070T>G
c.2577T>G (p.His859Gln)
c.7620T>G (p.His2540Gln)
n.1549T>G
c.7749T>G (p.His2583Gln)
2g.73489705T=CA1260981113ALMS1c.7365T= (p.His2455=)
c.757T=
c.4817T=
c.1812T= (p.His604=)
c.7746T= (p.His2582=)
c.896-30070T=
c.2577T= (p.His859=)
c.7620T= (p.His2540=)
n.1549T=
c.7749T= (p.His2583=)
2g.73489706G>ACA347263984ALMS1c.7366G>A (p.Glu2456Lys)
c.758G>A
c.4818G>A
c.1813G>A (p.Glu605Lys)
c.7747G>A (p.Glu2583Lys)
c.896-30069G>A
c.2578G>A (p.Glu860Lys)
c.7621G>A (p.Glu2541Lys)
n.1550G>A
c.7750G>A (p.Glu2584Lys)
2g.73489706G>CCA347263985ALMS1c.7366G>C (p.Glu2456Gln)
c.758G>C
c.4818G>C
c.1813G>C (p.Glu605Gln)
c.7747G>C (p.Glu2583Gln)
c.896-30069G>C
c.2578G>C (p.Glu860Gln)
c.7621G>C (p.Glu2541Gln)
n.1550G>C
c.7750G>C (p.Glu2584Gln)
2g.73489706G>TCA347263986ALMS1c.7366G>T (p.Glu2456Ter)
c.758G>T
c.4818G>T
c.1813G>T (p.Glu605Ter)
c.7747G>T (p.Glu2583Ter)
c.896-30069G>T
c.2578G>T (p.Glu860Ter)
c.7621G>T (p.Glu2541Ter)
n.1550G>T
c.7750G>T (p.Glu2584Ter)
2g.73489707A=CA1260981114ALMS1c.7367A= (p.Glu2456=)
c.759A=
c.4819A=
c.1814A= (p.Glu605=)
c.7748A= (p.Glu2583=)
c.896-30068A=
c.2579A= (p.Glu860=)
c.7622A= (p.Glu2541=)
n.1551A=
c.7751A= (p.Glu2584=)
2g.73489707A>CCA347263988ALMS1c.7367A>C (p.Glu2456Ala)
c.759A>C
c.4819A>C
c.1814A>C (p.Glu605Ala)
c.7748A>C (p.Glu2583Ala)
c.896-30068A>C
c.2579A>C (p.Glu860Ala)
c.7622A>C (p.Glu2541Ala)
n.1551A>C
c.7751A>C (p.Glu2584Ala)
2g.73489707A>GCA1714337ALMS1c.7367A>G (p.Glu2456Gly)
c.759A>G
c.4819A>G
c.1814A>G (p.Glu605Gly)
c.7748A>G (p.Glu2583Gly)
c.896-30068A>G
c.2579A>G (p.Glu860Gly)
c.7622A>G (p.Glu2541Gly)
n.1551A>G
c.7751A>G (p.Glu2584Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73489707A>TCA347263987ALMS1c.7367A>T (p.Glu2456Val)
c.759A>T
c.4819A>T
c.1814A>T (p.Glu605Val)
c.7748A>T (p.Glu2583Val)
c.896-30068A>T
c.2579A>T (p.Glu860Val)
c.7622A>T (p.Glu2541Val)
n.1551A>T
c.7751A>T (p.Glu2584Val)
2g.73489710delCA2697548275ALMS1c.7370del (p.Lys2457ArgfsTer7)
c.762del
c.4822del
c.1817del (p.Lys606ArgfsTer7)
c.7751del (p.Lys2584ArgfsTer7)
c.896-30065del
c.2582del (p.Lys861ArgfsTer7)
c.7625del (p.Lys2542ArgfsTer7)
n.1554del
c.7754del (p.Lys2585ArgfsTer7)
 ClinVar
2g.73489708A>CCA347263989ALMS1c.7368A>C (p.Glu2456Asp)
c.760A>C
c.4820A>C
c.1815A>C (p.Glu605Asp)
c.7749A>C (p.Glu2583Asp)
c.896-30067A>C
c.2580A>C (p.Glu860Asp)
c.7623A>C (p.Glu2541Asp)
n.1552A>C
c.7752A>C (p.Glu2584Asp)
2g.73489708A>GCA426765450ALMS1c.7368A>G (p.Glu2456=)
c.760A>G
c.4820A>G
c.1815A>G (p.Glu605=)
c.7749A>G (p.Glu2583=)
c.896-30067A>G
c.2580A>G (p.Glu860=)
c.7623A>G (p.Glu2541=)
n.1552A>G
c.7752A>G (p.Glu2584=)
2g.73489708A>TCA347263990ALMS1c.7368A>T (p.Glu2456Asp)
c.760A>T
c.4820A>T
c.1815A>T (p.Glu605Asp)
c.7749A>T (p.Glu2583Asp)
c.896-30067A>T
c.2580A>T (p.Glu860Asp)
c.7623A>T (p.Glu2541Asp)
n.1552A>T
c.7752A>T (p.Glu2584Asp)
2g.73489709A=CA1260981115ALMS1c.7369A= (p.Lys2457=)
c.761A=
c.4821A=
c.1816A= (p.Lys606=)
c.7750A= (p.Lys2584=)
c.896-30066A=
c.2581A= (p.Lys861=)
c.7624A= (p.Lys2542=)
n.1553A=
c.7753A= (p.Lys2585=)
2g.73489709A>CCA347263991ALMS1c.7369A>C (p.Lys2457Gln)
c.761A>C
c.4821A>C
c.1816A>C (p.Lys606Gln)
c.7750A>C (p.Lys2584Gln)
c.896-30066A>C
c.2581A>C (p.Lys861Gln)
c.7624A>C (p.Lys2542Gln)
n.1553A>C
c.7753A>C (p.Lys2585Gln)
2g.73489709A>GCA1714338ALMS1c.7369A>G (p.Lys2457Glu)
c.761A>G
c.4821A>G
c.1816A>G (p.Lys606Glu)
c.7750A>G (p.Lys2584Glu)
c.896-30066A>G
c.2581A>G (p.Lys861Glu)
c.7624A>G (p.Lys2542Glu)
n.1553A>G
c.7753A>G (p.Lys2585Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73489709A>TCA347263992ALMS1c.7369A>T (p.Lys2457Ter)
c.761A>T
c.4821A>T
c.1816A>T (p.Lys606Ter)
c.7750A>T (p.Lys2584Ter)
c.896-30066A>T
c.2581A>T (p.Lys861Ter)
c.7624A>T (p.Lys2542Ter)
n.1553A>T
c.7753A>T (p.Lys2585Ter)
2g.73489710A>CCA347263995ALMS1c.7370A>C (p.Lys2457Thr)
c.762A>C
c.4822A>C
c.1817A>C (p.Lys606Thr)
c.7751A>C (p.Lys2584Thr)
c.896-30065A>C
c.2582A>C (p.Lys861Thr)
c.7625A>C (p.Lys2542Thr)
n.1554A>C
c.7754A>C (p.Lys2585Thr)
2g.73489710A>GCA347263994ALMS1c.7370A>G (p.Lys2457Arg)
c.762A>G
c.4822A>G
c.1817A>G (p.Lys606Arg)
c.7751A>G (p.Lys2584Arg)
c.896-30065A>G
c.2582A>G (p.Lys861Arg)
c.7625A>G (p.Lys2542Arg)
n.1554A>G
c.7754A>G (p.Lys2585Arg)
2g.73489710A>TCA347263993ALMS1c.7370A>T (p.Lys2457Met)
c.762A>T
c.4822A>T
c.1817A>T (p.Lys606Met)
c.7751A>T (p.Lys2584Met)
c.896-30065A>T
c.2582A>T (p.Lys861Met)
c.7625A>T (p.Lys2542Met)
n.1554A>T
c.7754A>T (p.Lys2585Met)
2g.73489711G>ACA1714339ALMS1c.7371G>A (p.Lys2457=)
c.763G>A
c.4823G>A
c.1818G>A (p.Lys606=)
c.7752G>A (p.Lys2584=)
c.896-30064G>A
c.2583G>A (p.Lys861=)
c.7626G>A (p.Lys2542=)
n.1555G>A
c.7755G>A (p.Lys2585=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489711G>CCA1714340ALMS1c.7371G>C (p.Lys2457Asn)
c.763G>C
c.4823G>C
c.1818G>C (p.Lys606Asn)
c.7752G>C (p.Lys2584Asn)
c.896-30064G>C
c.2583G>C (p.Lys861Asn)
c.7626G>C (p.Lys2542Asn)
n.1555G>C
c.7755G>C (p.Lys2585Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73489711G=CA1260981116ALMS1c.7371G= (p.Lys2457=)
c.763G=
c.4823G=
c.1818G= (p.Lys606=)
c.7752G= (p.Lys2584=)
c.896-30064G=
c.2583G= (p.Lys861=)
c.7626G= (p.Lys2542=)
n.1555G=
c.7755G= (p.Lys2585=)
2g.73489711G>TCA347263996ALMS1c.7371G>T (p.Lys2457Asn)
c.763G>T
c.4823G>T
c.1818G>T (p.Lys606Asn)
c.7752G>T (p.Lys2584Asn)
c.896-30064G>T
c.2583G>T (p.Lys861Asn)
c.7626G>T (p.Lys2542Asn)
n.1555G>T
c.7755G>T (p.Lys2585Asn)
2g.73489712G>ACA347263997ALMS1c.7372G>A (p.Gly2458Arg)
c.764G>A
c.4824G>A
c.1819G>A (p.Gly607Arg)
c.7753G>A (p.Gly2585Arg)
c.896-30063G>A
c.2584G>A (p.Gly862Arg)
c.7627G>A (p.Gly2543Arg)
n.1556G>A
c.7756G>A (p.Gly2586Arg)
2g.73489712G>CCA347263998ALMS1c.7372G>C (p.Gly2458Arg)
c.764G>C
c.4824G>C
c.1819G>C (p.Gly607Arg)
c.7753G>C (p.Gly2585Arg)
c.896-30063G>C
c.2584G>C (p.Gly862Arg)
c.7627G>C (p.Gly2543Arg)
n.1556G>C
c.7756G>C (p.Gly2586Arg)
 ClinVar dbSNP gnomAD v4
2g.73489712G=CA1260981117ALMS1c.7372G= (p.Gly2458=)
c.764G=
c.4824G=
c.1819G= (p.Gly607=)
c.7753G= (p.Gly2585=)
c.896-30063G=
c.2584G= (p.Gly862=)
c.7627G= (p.Gly2543=)
n.1556G=
c.7756G= (p.Gly2586=)
2g.73489712G>TCA347263999ALMS1c.7372G>T (p.Gly2458Ter)
c.764G>T
c.4824G>T
c.1819G>T (p.Gly607Ter)
c.7753G>T (p.Gly2585Ter)
c.896-30063G>T
c.2584G>T (p.Gly862Ter)
c.7627G>T (p.Gly2543Ter)
n.1556G>T
c.7756G>T (p.Gly2586Ter)
2g.73489713G>ACA347264000ALMS1c.7373G>A (p.Gly2458Glu)
c.765G>A
c.4825G>A
c.1820G>A (p.Gly607Glu)
c.7754G>A (p.Gly2585Glu)
c.896-30062G>A
c.2585G>A (p.Gly862Glu)
c.7628G>A (p.Gly2543Glu)
n.1557G>A
c.7757G>A (p.Gly2586Glu)
2g.73489713G>CCA1714341ALMS1c.7373G>C (p.Gly2458Ala)
c.765G>C
c.4825G>C
c.1820G>C (p.Gly607Ala)
c.7754G>C (p.Gly2585Ala)
c.896-30062G>C
c.2585G>C (p.Gly862Ala)
c.7628G>C (p.Gly2543Ala)
n.1557G>C
c.7757G>C (p.Gly2586Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73489713G=CA1260981118ALMS1c.7373G= (p.Gly2458=)
c.765G=
c.4825G=
c.1820G= (p.Gly607=)
c.7754G= (p.Gly2585=)
c.896-30062G=
c.2585G= (p.Gly862=)
c.7628G= (p.Gly2543=)
n.1557G=
c.7757G= (p.Gly2586=)
2g.73489713G>TCA347264001ALMS1c.7373G>T (p.Gly2458Val)
c.765G>T
c.4825G>T
c.1820G>T (p.Gly607Val)
c.7754G>T (p.Gly2585Val)
c.896-30062G>T
c.2585G>T (p.Gly862Val)
c.7628G>T (p.Gly2543Val)
n.1557G>T
c.7757G>T (p.Gly2586Val)
2g.73489714A=CA1260981120ALMS1c.7374A= (p.Gly2458=)
c.766A=
c.4826A=
c.1821A= (p.Gly607=)
c.7755A= (p.Gly2585=)
c.896-30061A=
c.2586A= (p.Gly862=)
c.7629A= (p.Gly2543=)
n.1558A=
c.7758A= (p.Gly2586=)
2g.73489714A>CCA426765494ALMS1c.7374A>C (p.Gly2458=)
c.766A>C
c.4826A>C
c.1821A>C (p.Gly607=)
c.7755A>C (p.Gly2585=)
c.896-30061A>C
c.2586A>C (p.Gly862=)
c.7629A>C (p.Gly2543=)
n.1558A>C
c.7758A>C (p.Gly2586=)
2g.73489714A>GCA426765488ALMS1c.7374A>G (p.Gly2458=)
c.766A>G
c.4826A>G
c.1821A>G (p.Gly607=)
c.7755A>G (p.Gly2585=)
c.896-30061A>G
c.2586A>G (p.Gly862=)
c.7629A>G (p.Gly2543=)
n.1558A>G
c.7758A>G (p.Gly2586=)
 ClinVar dbSNP
2g.73489714A>TCA426765486ALMS1c.7374A>T (p.Gly2458=)
c.766A>T
c.4826A>T
c.1821A>T (p.Gly607=)
c.7755A>T (p.Gly2585=)
c.896-30061A>T
c.2586A>T (p.Gly862=)
c.7629A>T (p.Gly2543=)
n.1558A>T
c.7758A>T (p.Gly2586=)
 gnomAD v4
2g.73489714_73489716delinsATGCA1260981119ALMS1c.7374_7376delinsATG (p.Gly2458=)
c.766_768delinsATG
c.4826_4828delinsATG
c.1821_1823delinsATG (p.Gly607=)
c.7755_7757delinsATG (p.Gly2585=)
c.896-30061_896-30059delinsATG
c.2586_2588delinsATG (p.Gly862=)
c.7629_7631delinsATG (p.Gly2543=)
n.1558_1560delinsATG
c.7758_7760delinsATG (p.Gly2586=)
2g.73489715T>ACA347264002ALMS1c.7375T>A (p.Cys2459Ser)
c.767T>A
c.4827T>A
c.1822T>A (p.Cys608Ser)
c.7756T>A (p.Cys2586Ser)
c.896-30060T>A
c.2587T>A (p.Cys863Ser)
c.7630T>A (p.Cys2544Ser)
n.1559T>A
c.7759T>A (p.Cys2587Ser)
 ClinVar dbSNP
2g.73489715T>CCA347264003ALMS1c.7375T>C (p.Cys2459Arg)
c.767T>C
c.4827T>C
c.1822T>C (p.Cys608Arg)
c.7756T>C (p.Cys2586Arg)
c.896-30060T>C
c.2587T>C (p.Cys863Arg)
c.7630T>C (p.Cys2544Arg)
n.1559T>C
c.7759T>C (p.Cys2587Arg)
2g.73489715T>GCA347264004ALMS1c.7375T>G (p.Cys2459Gly)
c.767T>G
c.4827T>G
c.1822T>G (p.Cys608Gly)
c.7756T>G (p.Cys2586Gly)
c.896-30060T>G
c.2587T>G (p.Cys863Gly)
c.7630T>G (p.Cys2544Gly)
n.1559T>G
c.7759T>G (p.Cys2587Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.73489715T=CA1260981121ALMS1c.7375T= (p.Cys2459=)
c.767T=
c.4827T=
c.1822T= (p.Cys608=)
c.7756T= (p.Cys2586=)
c.896-30060T=
c.2587T= (p.Cys863=)
c.7630T= (p.Cys2544=)
n.1559T=
c.7759T= (p.Cys2587=)
2g.73489716_73489717delCA534125620ALMS1c.7376_7377del (p.Cys2459PhefsTer7)
c.768_769del
c.4828_4829del
c.1823_1824del (p.Cys608PhefsTer7)
c.7757_7758del (p.Cys2586PhefsTer7)
c.896-30059_896-30058del
c.2588_2589del (p.Cys863PhefsTer7)
c.7631_7632del (p.Cys2544PhefsTer7)
n.1560_1561del
c.7760_7761del (p.Cys2587PhefsTer7)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73489716delCA2586969422ALMS1c.7376del (p.Cys2459PhefsTer5)
c.768del
c.4828del
c.1823del (p.Cys608PhefsTer5)
c.7757del (p.Cys2586PhefsTer5)
c.896-30059del
c.2588del (p.Cys863PhefsTer5)
c.7631del (p.Cys2544PhefsTer5)
n.1560del
c.7760del (p.Cys2587PhefsTer5)
2g.73489716G>ACA347264005ALMS1c.7376G>A (p.Cys2459Tyr)
c.768G>A
c.4828G>A
c.1823G>A (p.Cys608Tyr)
c.7757G>A (p.Cys2586Tyr)
c.896-30059G>A
c.2588G>A (p.Cys863Tyr)
c.7631G>A (p.Cys2544Tyr)
n.1560G>A
c.7760G>A (p.Cys2587Tyr)
 dbSNP
2g.73489716G>CCA347264006ALMS1c.7376G>C (p.Cys2459Ser)
c.768G>C
c.4828G>C
c.1823G>C (p.Cys608Ser)
c.7757G>C (p.Cys2586Ser)
c.896-30059G>C
c.2588G>C (p.Cys863Ser)
c.7631G>C (p.Cys2544Ser)
n.1560G>C
c.7760G>C (p.Cys2587Ser)
2g.73489716G=CA1260981122ALMS1c.7376G= (p.Cys2459=)
c.768G=
c.4828G=
c.1823G= (p.Cys608=)
c.7757G= (p.Cys2586=)
c.896-30059G=
c.2588G= (p.Cys863=)
c.7631G= (p.Cys2544=)
n.1560G=
c.7760G= (p.Cys2587=)
2g.73489716G>TCA347264007ALMS1c.7376G>T (p.Cys2459Phe)
c.768G>T
c.4828G>T
c.1823G>T (p.Cys608Phe)
c.7757G>T (p.Cys2586Phe)
c.896-30059G>T
c.2588G>T (p.Cys863Phe)
c.7631G>T (p.Cys2544Phe)
n.1560G>T
c.7760G>T (p.Cys2587Phe)
2g.73489717T>ACA347264008ALMS1c.7377T>A (p.Cys2459Ter)
c.769T>A
c.4829T>A
c.1824T>A (p.Cys608Ter)
c.7758T>A (p.Cys2586Ter)
c.896-30058T>A
c.2589T>A (p.Cys863Ter)
c.7632T>A (p.Cys2544Ter)
n.1561T>A
c.7761T>A (p.Cys2587Ter)
2g.73489717T>CCA426765514ALMS1c.7377T>C (p.Cys2459=)
c.769T>C
c.4829T>C
c.1824T>C (p.Cys608=)
c.7758T>C (p.Cys2586=)
c.896-30058T>C
c.2589T>C (p.Cys863=)
c.7632T>C (p.Cys2544=)
n.1561T>C
c.7761T>C (p.Cys2587=)
2g.73489717T>GCA347264009ALMS1c.7377T>G (p.Cys2459Trp)
c.769T>G
c.4829T>G
c.1824T>G (p.Cys608Trp)
c.7758T>G (p.Cys2586Trp)
c.896-30058T>G
c.2589T>G (p.Cys863Trp)
c.7632T>G (p.Cys2544Trp)
n.1561T>G
c.7761T>G (p.Cys2587Trp)
2g.73489718T>ACA347264010ALMS1c.7378T>A (p.Phe2460Ile)
c.770T>A
c.4830T>A
c.1825T>A (p.Phe609Ile)
c.7759T>A (p.Phe2587Ile)
c.896-30057T>A
c.2590T>A (p.Phe864Ile)
c.7633T>A (p.Phe2545Ile)
n.1562T>A
c.7762T>A (p.Phe2588Ile)
2g.73489718T>CCA347264011ALMS1c.7378T>C (p.Phe2460Leu)
c.770T>C
c.4830T>C
c.1825T>C (p.Phe609Leu)
c.7759T>C (p.Phe2587Leu)
c.896-30057T>C
c.2590T>C (p.Phe864Leu)
c.7633T>C (p.Phe2545Leu)
n.1562T>C
c.7762T>C (p.Phe2588Leu)
2g.73489718T>GCA347264012ALMS1c.7378T>G (p.Phe2460Val)
c.770T>G
c.4830T>G
c.1825T>G (p.Phe609Val)
c.7759T>G (p.Phe2587Val)
c.896-30057T>G
c.2590T>G (p.Phe864Val)
c.7633T>G (p.Phe2545Val)
n.1562T>G
c.7762T>G (p.Phe2588Val)
2g.73489719T>ACA1714342ALMS1c.7379T>A (p.Phe2460Tyr)
c.771T>A
c.4831T>A
c.1826T>A (p.Phe609Tyr)
c.7760T>A (p.Phe2587Tyr)
c.896-30056T>A
c.2591T>A (p.Phe864Tyr)
c.7634T>A (p.Phe2545Tyr)
n.1563T>A
c.7763T>A (p.Phe2588Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73489719T>CCA347264014ALMS1c.7379T>C (p.Phe2460Ser)
c.771T>C
c.4831T>C
c.1826T>C (p.Phe609Ser)
c.7760T>C (p.Phe2587Ser)
c.896-30056T>C
c.2591T>C (p.Phe864Ser)
c.7634T>C (p.Phe2545Ser)
n.1563T>C
c.7763T>C (p.Phe2588Ser)
2g.73489719T>GCA347264013ALMS1c.7379T>G (p.Phe2460Cys)
c.771T>G
c.4831T>G
c.1826T>G (p.Phe609Cys)
c.7760T>G (p.Phe2587Cys)
c.896-30056T>G
c.2591T>G (p.Phe864Cys)
c.7634T>G (p.Phe2545Cys)
n.1563T>G
c.7763T>G (p.Phe2588Cys)
2g.73489719T=CA1260981123ALMS1c.7379T= (p.Phe2460=)
c.771T=
c.4831T=
c.1826T= (p.Phe609=)
c.7760T= (p.Phe2587=)
c.896-30056T=
c.2591T= (p.Phe864=)
c.7634T= (p.Phe2545=)
n.1563T=
c.7763T= (p.Phe2588=)
2g.73489720C>ACA347264015ALMS1c.7380C>A (p.Phe2460Leu)
c.772C>A
c.4832C>A
c.1827C>A (p.Phe609Leu)
c.7761C>A (p.Phe2587Leu)
c.896-30055C>A
c.2592C>A (p.Phe864Leu)
c.7635C>A (p.Phe2545Leu)
n.1564C>A
c.7764C>A (p.Phe2588Leu)
2g.73489720C=CA1260981124ALMS1c.7380C= (p.Phe2460=)
c.772C=
c.4832C=
c.1827C= (p.Phe609=)
c.7761C= (p.Phe2587=)
c.896-30055C=
c.2592C= (p.Phe864=)
c.7635C= (p.Phe2545=)
n.1564C=
c.7764C= (p.Phe2588=)
2g.73489720C>GCA347264016ALMS1c.7380C>G (p.Phe2460Leu)
c.772C>G
c.4832C>G
c.1827C>G (p.Phe609Leu)
c.7761C>G (p.Phe2587Leu)
c.896-30055C>G
c.2592C>G (p.Phe864Leu)
c.7635C>G (p.Phe2545Leu)
n.1564C>G
c.7764C>G (p.Phe2588Leu)
2g.73489720C>TCA426765531ALMS1c.7380C>T (p.Phe2460=)
c.772C>T
c.4832C>T
c.1827C>T (p.Phe609=)
c.7761C>T (p.Phe2587=)
c.896-30055C>T
c.2592C>T (p.Phe864=)
c.7635C>T (p.Phe2545=)
n.1564C>T
c.7764C>T (p.Phe2588=)
 ClinVar dbSNP gnomAD v4
2g.73489721C>ACA426765533ALMS1c.7381C>A (p.Arg2461=)
c.773C>A
c.4833C>A
c.1828C>A (p.Arg610=)
c.7762C>A (p.Arg2588=)
c.896-30054C>A
c.2593C>A (p.Arg865=)
c.7636C>A (p.Arg2546=)
n.1565C>A
c.7765C>A (p.Arg2589=)
2g.73489721C=CA1260981125ALMS1c.7381C= (p.Arg2461=)
c.773C=
c.4833C=
c.1828C= (p.Arg610=)
c.7762C= (p.Arg2588=)
c.896-30054C=
c.2593C= (p.Arg865=)
c.7636C= (p.Arg2546=)
n.1565C=
c.7765C= (p.Arg2589=)
2g.73489721C>GCA347264017ALMS1c.7381C>G (p.Arg2461Gly)
c.773C>G
c.4833C>G
c.1828C>G (p.Arg610Gly)
c.7762C>G (p.Arg2588Gly)
c.896-30054C>G
c.2593C>G (p.Arg865Gly)
c.7636C>G (p.Arg2546Gly)
n.1565C>G
c.7765C>G (p.Arg2589Gly)
2g.73489721C>TCA1714343ALMS1c.7381C>T (p.Arg2461Trp)
c.773C>T
c.4833C>T
c.1828C>T (p.Arg610Trp)
c.7762C>T (p.Arg2588Trp)
c.896-30054C>T
c.2593C>T (p.Arg865Trp)
c.7636C>T (p.Arg2546Trp)
n.1565C>T
c.7765C>T (p.Arg2589Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489722G>ACA1714344ALMS1c.7382G>A (p.Arg2461Gln)
c.774G>A
c.4834G>A
c.1829G>A (p.Arg610Gln)
c.7763G>A (p.Arg2588Gln)
c.896-30053G>A
c.2594G>A (p.Arg865Gln)
c.7637G>A (p.Arg2546Gln)
n.1566G>A
c.7766G>A (p.Arg2589Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489722G>CCA347264018ALMS1c.7382G>C (p.Arg2461Pro)
c.774G>C
c.4834G>C
c.1829G>C (p.Arg610Pro)
c.7763G>C (p.Arg2588Pro)
c.896-30053G>C
c.2594G>C (p.Arg865Pro)
c.7637G>C (p.Arg2546Pro)
n.1566G>C
c.7766G>C (p.Arg2589Pro)
2g.73489722G=CA1260981126ALMS1c.7382G= (p.Arg2461=)
c.774G=
c.4834G=
c.1829G= (p.Arg610=)
c.7763G= (p.Arg2588=)
c.896-30053G=
c.2594G= (p.Arg865=)
c.7637G= (p.Arg2546=)
n.1566G=
c.7766G= (p.Arg2589=)
2g.73489722G>TCA347264019ALMS1c.7382G>T (p.Arg2461Leu)
c.774G>T
c.4834G>T
c.1829G>T (p.Arg610Leu)
c.7763G>T (p.Arg2588Leu)
c.896-30053G>T
c.2594G>T (p.Arg865Leu)
c.7637G>T (p.Arg2546Leu)
n.1566G>T
c.7766G>T (p.Arg2589Leu)
2g.73489723G>ACA1714345ALMS1c.7383G>A (p.Arg2461=)
c.775G>A
c.4835G>A
c.1830G>A (p.Arg610=)
c.7764G>A (p.Arg2588=)
c.896-30052G>A
c.2595G>A (p.Arg865=)
c.7638G>A (p.Arg2546=)
n.1567G>A
c.7767G>A (p.Arg2589=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489723G>CCA426765540ALMS1c.7383G>C (p.Arg2461=)
c.775G>C
c.4835G>C
c.1830G>C (p.Arg610=)
c.7764G>C (p.Arg2588=)
c.896-30052G>C
c.2595G>C (p.Arg865=)
c.7638G>C (p.Arg2546=)
n.1567G>C
c.7767G>C (p.Arg2589=)
2g.73489723G=CA1260981127ALMS1c.7383G= (p.Arg2461=)
c.775G=
c.4835G=
c.1830G= (p.Arg610=)
c.7764G= (p.Arg2588=)
c.896-30052G=
c.2595G= (p.Arg865=)
c.7638G= (p.Arg2546=)
n.1567G=
c.7767G= (p.Arg2589=)
2g.73489723G>TCA426765543ALMS1c.7383G>T (p.Arg2461=)
c.775G>T
c.4835G>T
c.1830G>T (p.Arg610=)
c.7764G>T (p.Arg2588=)
c.896-30052G>T
c.2595G>T (p.Arg865=)
c.7638G>T (p.Arg2546=)
n.1567G>T
c.7767G>T (p.Arg2589=)
2g.73489724A>CCA347264020ALMS1c.7384A>C (p.Thr2462Pro)
c.776A>C
c.4836A>C
c.1831A>C (p.Thr611Pro)
c.7765A>C (p.Thr2589Pro)
c.896-30051A>C
c.2596A>C (p.Thr866Pro)
c.7639A>C (p.Thr2547Pro)
n.1568A>C
c.7768A>C (p.Thr2590Pro)
2g.73489724A>GCA347264021ALMS1c.7384A>G (p.Thr2462Ala)
c.776A>G
c.4836A>G
c.1831A>G (p.Thr611Ala)
c.7765A>G (p.Thr2589Ala)
c.896-30051A>G
c.2596A>G (p.Thr866Ala)
c.7639A>G (p.Thr2547Ala)
n.1568A>G
c.7768A>G (p.Thr2590Ala)
 gnomAD v4
2g.73489724A>TCA347264022ALMS1c.7384A>T (p.Thr2462Ser)
c.776A>T
c.4836A>T
c.1831A>T (p.Thr611Ser)
c.7765A>T (p.Thr2589Ser)
c.896-30051A>T
c.2596A>T (p.Thr866Ser)
c.7639A>T (p.Thr2547Ser)
n.1568A>T
c.7768A>T (p.Thr2590Ser)
2g.73489725C>ACA347264023ALMS1c.7385C>A (p.Thr2462Asn)
c.777C>A
c.4837C>A
c.1832C>A (p.Thr611Asn)
c.7766C>A (p.Thr2589Asn)
c.896-30050C>A
c.2597C>A (p.Thr866Asn)
c.7640C>A (p.Thr2547Asn)
n.1569C>A
c.7769C>A (p.Thr2590Asn)
2g.73489725C>GCA347264024ALMS1c.7385C>G (p.Thr2462Ser)
c.777C>G
c.4837C>G
c.1832C>G (p.Thr611Ser)
c.7766C>G (p.Thr2589Ser)
c.896-30050C>G
c.2597C>G (p.Thr866Ser)
c.7640C>G (p.Thr2547Ser)
n.1569C>G
c.7769C>G (p.Thr2590Ser)
2g.73489725C>TCA347264025ALMS1c.7385C>T (p.Thr2462Ile)
c.777C>T
c.4837C>T
c.1832C>T (p.Thr611Ile)
c.7766C>T (p.Thr2589Ile)
c.896-30050C>T
c.2597C>T (p.Thr866Ile)
c.7640C>T (p.Thr2547Ile)
n.1569C>T
c.7769C>T (p.Thr2590Ile)
2g.73489726T>ACA426765569ALMS1c.7386T>A (p.Thr2462=)
c.778T>A
c.4838T>A
c.1833T>A (p.Thr611=)
c.7767T>A (p.Thr2589=)
c.896-30049T>A
c.2598T>A (p.Thr866=)
c.7641T>A (p.Thr2547=)
n.1570T>A
c.7770T>A (p.Thr2590=)
2g.73489726T>CCA426765570ALMS1c.7386T>C (p.Thr2462=)
c.778T>C
c.4838T>C
c.1833T>C (p.Thr611=)
c.7767T>C (p.Thr2589=)
c.896-30049T>C
c.2598T>C (p.Thr866=)
c.7641T>C (p.Thr2547=)
n.1570T>C
c.7770T>C (p.Thr2590=)
2g.73489726T>GCA426765572ALMS1c.7386T>G (p.Thr2462=)
c.778T>G
c.4838T>G
c.1833T>G (p.Thr611=)
c.7767T>G (p.Thr2589=)
c.896-30049T>G
c.2598T>G (p.Thr866=)
c.7641T>G (p.Thr2547=)
n.1570T>G
c.7770T>G (p.Thr2590=)
2g.73489727C>ACA347264026ALMS1c.7387C>A (p.Leu2463Ile)
c.779C>A
c.4839C>A
c.1834C>A (p.Leu612Ile)
c.7768C>A (p.Leu2590Ile)
c.896-30048C>A
c.2599C>A (p.Leu867Ile)
c.7642C>A (p.Leu2548Ile)
n.1571C>A
c.7771C>A (p.Leu2591Ile)
2g.73489727C=CA1260981128ALMS1c.7387C= (p.Leu2463=)
c.779C=
c.4839C=
c.1834C= (p.Leu612=)
c.7768C= (p.Leu2590=)
c.896-30048C=
c.2599C= (p.Leu867=)
c.7642C= (p.Leu2548=)
n.1571C=
c.7771C= (p.Leu2591=)
2g.73489727C>GCA1714346ALMS1c.7387C>G (p.Leu2463Val)
c.779C>G
c.4839C>G
c.1834C>G (p.Leu612Val)
c.7768C>G (p.Leu2590Val)
c.896-30048C>G
c.2599C>G (p.Leu867Val)
c.7642C>G (p.Leu2548Val)
n.1571C>G
c.7771C>G (p.Leu2591Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489727C>TCA426765578ALMS1c.7387C>T (p.Leu2463=)
c.779C>T
c.4839C>T
c.1834C>T (p.Leu612=)
c.7768C>T (p.Leu2590=)
c.896-30048C>T
c.2599C>T (p.Leu867=)
c.7642C>T (p.Leu2548=)
n.1571C>T
c.7771C>T (p.Leu2591=)
2g.73489727_73489728insACA2499306990ALMS1c.7387_7388insA (p.Leu2463HisfsTer4)
c.779_780insA
c.4839_4840insA
c.1834_1835insA (p.Leu612HisfsTer4)
c.7768_7769insA (p.Leu2590HisfsTer4)
c.896-30048_896-30047insA
c.2599_2600insA (p.Leu867HisfsTer4)
c.7642_7643insA (p.Leu2548HisfsTer4)
n.1571_1572insA
c.7771_7772insA (p.Leu2591HisfsTer4)
2g.73489728T>ACA347264027ALMS1c.7388T>A (p.Leu2463Gln)
c.780T>A
c.4840T>A
c.1835T>A (p.Leu612Gln)
c.7769T>A (p.Leu2590Gln)
c.896-30047T>A
c.2600T>A (p.Leu867Gln)
c.7643T>A (p.Leu2548Gln)
n.1572T>A
c.7772T>A (p.Leu2591Gln)
2g.73489728T>CCA347264028ALMS1c.7388T>C (p.Leu2463Pro)
c.780T>C
c.4840T>C
c.1835T>C (p.Leu612Pro)
c.7769T>C (p.Leu2590Pro)
c.896-30047T>C
c.2600T>C (p.Leu867Pro)
c.7643T>C (p.Leu2548Pro)
n.1572T>C
c.7772T>C (p.Leu2591Pro)
2g.73489728T>GCA347264029ALMS1c.7388T>G (p.Leu2463Arg)
c.780T>G
c.4840T>G
c.1835T>G (p.Leu612Arg)
c.7769T>G (p.Leu2590Arg)
c.896-30047T>G
c.2600T>G (p.Leu867Arg)
c.7643T>G (p.Leu2548Arg)
n.1572T>G
c.7772T>G (p.Leu2591Arg)
2g.73489728dupCA2586969425ALMS1c.7388dup (p.Thr2464AsnfsTer3)
c.780dup
c.4840dup
c.1835dup (p.Thr613AsnfsTer3)
c.7769dup (p.Thr2591AsnfsTer3)
c.896-30047dup
c.2600dup (p.Thr868AsnfsTer3)
c.7643dup (p.Thr2549AsnfsTer3)
n.1572dup
c.7772dup (p.Thr2592AsnfsTer3)
 ClinVar gnomAD v4
2g.73489729A=CA1260981129ALMS1c.7389A= (p.Leu2463=)
c.781A=
c.4841A=
c.1836A= (p.Leu612=)
c.7770A= (p.Leu2590=)
c.896-30046A=
c.2601A= (p.Leu867=)
c.7644A= (p.Leu2548=)
n.1573A=
c.7773A= (p.Leu2591=)
2g.73489729A>CCA426765598ALMS1c.7389A>C (p.Leu2463=)
c.781A>C
c.4841A>C
c.1836A>C (p.Leu612=)
c.7770A>C (p.Leu2590=)
c.896-30046A>C
c.2601A>C (p.Leu867=)
c.7644A>C (p.Leu2548=)
n.1573A>C
c.7773A>C (p.Leu2591=)
 ClinVar
2g.73489729A>GCA1714347ALMS1c.7389A>G (p.Leu2463=)
c.781A>G
c.4841A>G
c.1836A>G (p.Leu612=)
c.7770A>G (p.Leu2590=)
c.896-30046A>G
c.2601A>G (p.Leu867=)
c.7644A>G (p.Leu2548=)
n.1573A>G
c.7773A>G (p.Leu2591=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73489729A>TCA426765594ALMS1c.7389A>T (p.Leu2463=)
c.781A>T
c.4841A>T
c.1836A>T (p.Leu612=)
c.7770A>T (p.Leu2590=)
c.896-30046A>T
c.2601A>T (p.Leu867=)
c.7644A>T (p.Leu2548=)
n.1573A>T
c.7773A>T (p.Leu2591=)
2g.73489730A=CA1260981130ALMS1c.7390A= (p.Thr2464=)
c.782A=
c.4842A=
c.1837A= (p.Thr613=)
c.7771A= (p.Thr2591=)
c.896-30045A=
c.2602A= (p.Thr868=)
c.7645A= (p.Thr2549=)
n.1574A=
c.7774A= (p.Thr2592=)
2g.73489730A>CCA347264030ALMS1c.7390A>C (p.Thr2464Pro)
c.782A>C
c.4842A>C
c.1837A>C (p.Thr613Pro)
c.7771A>C (p.Thr2591Pro)
c.896-30045A>C
c.2602A>C (p.Thr868Pro)
c.7645A>C (p.Thr2549Pro)
n.1574A>C
c.7774A>C (p.Thr2592Pro)
2g.73489730A>GCA347264031ALMS1c.7390A>G (p.Thr2464Ala)
c.782A>G
c.4842A>G
c.1837A>G (p.Thr613Ala)
c.7771A>G (p.Thr2591Ala)
c.896-30045A>G
c.2602A>G (p.Thr868Ala)
c.7645A>G (p.Thr2549Ala)
n.1574A>G
c.7774A>G (p.Thr2592Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.73489730A>TCA347264032ALMS1c.7390A>T (p.Thr2464Ser)
c.782A>T
c.4842A>T
c.1837A>T (p.Thr613Ser)
c.7771A>T (p.Thr2591Ser)
c.896-30045A>T
c.2602A>T (p.Thr868Ser)
c.7645A>T (p.Thr2549Ser)
n.1574A>T
c.7774A>T (p.Thr2592Ser)
2g.73489731C>ACA347264033ALMS1c.7391C>A (p.Thr2464Asn)
c.783C>A
c.4843C>A
c.1838C>A (p.Thr613Asn)
c.7772C>A (p.Thr2591Asn)
c.896-30044C>A
c.2603C>A (p.Thr868Asn)
c.7646C>A (p.Thr2549Asn)
n.1575C>A
c.7775C>A (p.Thr2592Asn)
2g.73489731C>GCA347264034ALMS1c.7391C>G (p.Thr2464Ser)
c.783C>G
c.4843C>G
c.1838C>G (p.Thr613Ser)
c.7772C>G (p.Thr2591Ser)
c.896-30044C>G
c.2603C>G (p.Thr868Ser)
c.7646C>G (p.Thr2549Ser)
n.1575C>G
c.7775C>G (p.Thr2592Ser)
 ClinVar dbSNP
2g.73489731C>TCA347264035ALMS1c.7391C>T (p.Thr2464Ile)
c.783C>T
c.4843C>T
c.1838C>T (p.Thr613Ile)
c.7772C>T (p.Thr2591Ile)
c.896-30044C>T
c.2603C>T (p.Thr868Ile)
c.7646C>T (p.Thr2549Ile)
n.1575C>T
c.7775C>T (p.Thr2592Ile)
2g.73489732T>ACA426765612ALMS1c.7392T>A (p.Thr2464=)
c.784T>A
c.4844T>A
c.1839T>A (p.Thr613=)
c.7773T>A (p.Thr2591=)
c.896-30043T>A
c.2604T>A (p.Thr868=)
c.7647T>A (p.Thr2549=)
n.1576T>A
c.7776T>A (p.Thr2592=)
2g.73489732T>CCA426765609ALMS1c.7392T>C (p.Thr2464=)
c.784T>C
c.4844T>C
c.1839T>C (p.Thr613=)
c.7773T>C (p.Thr2591=)
c.896-30043T>C
c.2604T>C (p.Thr868=)
c.7647T>C (p.Thr2549=)
n.1576T>C
c.7776T>C (p.Thr2592=)
2g.73489732T>GCA426765608ALMS1c.7392T>G (p.Thr2464=)
c.784T>G
c.4844T>G
c.1839T>G (p.Thr613=)
c.7773T>G (p.Thr2591=)
c.896-30043T>G
c.2604T>G (p.Thr868=)
c.7647T>G (p.Thr2549=)
n.1576T>G
c.7776T>G (p.Thr2592=)
2g.73489733T>ACA347264036ALMS1c.7393T>A (p.Ser2465Thr)
c.785T>A
c.4845T>A
c.1840T>A (p.Ser614Thr)
c.7774T>A (p.Ser2592Thr)
c.896-30042T>A
c.2605T>A (p.Ser869Thr)
c.7648T>A (p.Ser2550Thr)
n.1577T>A
c.7777T>A (p.Ser2593Thr)
2g.73489733T>CCA347264037ALMS1c.7393T>C (p.Ser2465Pro)
c.785T>C
c.4845T>C
c.1840T>C (p.Ser614Pro)
c.7774T>C (p.Ser2592Pro)
c.896-30042T>C
c.2605T>C (p.Ser869Pro)
c.7648T>C (p.Ser2550Pro)
n.1577T>C
c.7777T>C (p.Ser2593Pro)
2g.73489733T>GCA50377445ALMS1c.7393T>G (p.Ser2465Ala)
c.785T>G
c.4845T>G
c.1840T>G (p.Ser614Ala)
c.7774T>G (p.Ser2592Ala)
c.896-30042T>G
c.2605T>G (p.Ser869Ala)
c.7648T>G (p.Ser2550Ala)
n.1577T>G
c.7777T>G (p.Ser2593Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73489733T=CA1260981131ALMS1c.7393T= (p.Ser2465=)
c.785T=
c.4845T=
c.1840T= (p.Ser614=)
c.7774T= (p.Ser2592=)
c.896-30042T=
c.2605T= (p.Ser869=)
c.7648T= (p.Ser2550=)
n.1577T=
c.7777T= (p.Ser2593=)
2g.73489734C>ACA347264038ALMS1c.7394C>A (p.Ser2465Tyr)
c.786C>A
c.4846C>A
c.1841C>A (p.Ser614Tyr)
c.7775C>A (p.Ser2592Tyr)
c.896-30041C>A
c.2606C>A (p.Ser869Tyr)
c.7649C>A (p.Ser2550Tyr)
n.1578C>A
c.7778C>A (p.Ser2593Tyr)
2g.73489734C>GCA347264040ALMS1c.7394C>G (p.Ser2465Cys)
c.786C>G
c.4846C>G
c.1841C>G (p.Ser614Cys)
c.7775C>G (p.Ser2592Cys)
c.896-30041C>G
c.2606C>G (p.Ser869Cys)
c.7649C>G (p.Ser2550Cys)
n.1578C>G
c.7778C>G (p.Ser2593Cys)
2g.73489734C>TCA347264039ALMS1c.7394C>T (p.Ser2465Phe)
c.786C>T
c.4846C>T
c.1841C>T (p.Ser614Phe)
c.7775C>T (p.Ser2592Phe)
c.896-30041C>T
c.2606C>T (p.Ser869Phe)
c.7649C>T (p.Ser2550Phe)
n.1578C>T
c.7778C>T (p.Ser2593Phe)
2g.73489735T>ACA426765621ALMS1c.7395T>A (p.Ser2465=)
c.787T>A
c.4847T>A
c.1842T>A (p.Ser614=)
c.7776T>A (p.Ser2592=)
c.896-30040T>A
c.2607T>A (p.Ser869=)
c.7650T>A (p.Ser2550=)
n.1579T>A
c.7779T>A (p.Ser2593=)
2g.73489735T>CCA426765627ALMS1c.7395T>C (p.Ser2465=)
c.787T>C
c.4847T>C
c.1842T>C (p.Ser614=)
c.7776T>C (p.Ser2592=)
c.896-30040T>C
c.2607T>C (p.Ser869=)
c.7650T>C (p.Ser2550=)
n.1579T>C
c.7779T>C (p.Ser2593=)
2g.73489735T>GCA426765625ALMS1c.7395T>G (p.Ser2465=)
c.787T>G
c.4847T>G
c.1842T>G (p.Ser614=)
c.7776T>G (p.Ser2592=)
c.896-30040T>G
c.2607T>G (p.Ser869=)
c.7650T>G (p.Ser2550=)
n.1579T>G
c.7779T>G (p.Ser2593=)
 dbSNP gnomAD v3 gnomAD v4
2g.73489735T=CA1260981132ALMS1c.7395T= (p.Ser2465=)
c.787T=
c.4847T=
c.1842T= (p.Ser614=)
c.7776T= (p.Ser2592=)
c.896-30040T=
c.2607T= (p.Ser869=)
c.7650T= (p.Ser2550=)
n.1579T=
c.7779T= (p.Ser2593=)
2g.73489736G>ACA347264041ALMS1c.7396G>A (p.Glu2466Lys)
c.788G>A
c.4848G>A
c.1843G>A (p.Glu615Lys)
c.7777G>A (p.Glu2593Lys)
c.896-30039G>A
c.2608G>A (p.Glu870Lys)
c.7651G>A (p.Glu2551Lys)
n.1580G>A
c.7780G>A (p.Glu2594Lys)
2g.73489736G>CCA347264042ALMS1c.7396G>C (p.Glu2466Gln)
c.788G>C
c.4848G>C
c.1843G>C (p.Glu615Gln)
c.7777G>C (p.Glu2593Gln)
c.896-30039G>C
c.2608G>C (p.Glu870Gln)
c.7651G>C (p.Glu2551Gln)
n.1580G>C
c.7780G>C (p.Glu2594Gln)
2g.73489736G>TCA347264043ALMS1c.7396G>T (p.Glu2466Ter)
c.788G>T
c.4848G>T
c.1843G>T (p.Glu615Ter)
c.7777G>T (p.Glu2593Ter)
c.896-30039G>T
c.2608G>T (p.Glu870Ter)
c.7651G>T (p.Glu2551Ter)
n.1580G>T
c.7780G>T (p.Glu2594Ter)
 ClinVar
2g.73489737A>CCA347264044ALMS1c.7397A>C (p.Glu2466Ala)
c.789A>C
c.4849A>C
c.1844A>C (p.Glu615Ala)
c.7778A>C (p.Glu2593Ala)
c.896-30038A>C
c.2609A>C (p.Glu870Ala)
c.7652A>C (p.Glu2551Ala)
n.1581A>C
c.7781A>C (p.Glu2594Ala)
2g.73489737A>GCA347264045ALMS1c.7397A>G (p.Glu2466Gly)
c.789A>G
c.4849A>G
c.1844A>G (p.Glu615Gly)
c.7778A>G (p.Glu2593Gly)
c.896-30038A>G
c.2609A>G (p.Glu870Gly)
c.7652A>G (p.Glu2551Gly)
n.1581A>G
c.7781A>G (p.Glu2594Gly)
2g.73489737A>TCA347264046ALMS1c.7397A>T (p.Glu2466Val)
c.789A>T
c.4849A>T
c.1844A>T (p.Glu615Val)
c.7778A>T (p.Glu2593Val)
c.896-30038A>T
c.2609A>T (p.Glu870Val)
c.7652A>T (p.Glu2551Val)
n.1581A>T
c.7781A>T (p.Glu2594Val)
2g.73489738A>CCA347264047ALMS1c.7398A>C (p.Glu2466Asp)
c.790A>C
c.4850A>C
c.1845A>C (p.Glu615Asp)
c.7779A>C (p.Glu2593Asp)
c.896-30037A>C
c.2610A>C (p.Glu870Asp)
c.7653A>C (p.Glu2551Asp)
n.1582A>C
c.7782A>C (p.Glu2594Asp)
2g.73489738A>GCA426765640ALMS1c.7398A>G (p.Glu2466=)
c.790A>G
c.4850A>G
c.1845A>G (p.Glu615=)
c.7779A>G (p.Glu2593=)
c.896-30037A>G
c.2610A>G (p.Glu870=)
c.7653A>G (p.Glu2551=)
n.1582A>G
c.7782A>G (p.Glu2594=)
 gnomAD v4
2g.73489738A>TCA347264048ALMS1c.7398A>T (p.Glu2466Asp)
c.790A>T
c.4850A>T
c.1845A>T (p.Glu615Asp)
c.7779A>T (p.Glu2593Asp)
c.896-30037A>T
c.2610A>T (p.Glu870Asp)
c.7653A>T (p.Glu2551Asp)
n.1582A>T
c.7782A>T (p.Glu2594Asp)
2g.73489739C>ACA347264049ALMS1c.7399C>A (p.His2467Asn)
c.791C>A
c.4851C>A
c.1846C>A (p.His616Asn)
c.7780C>A (p.His2594Asn)
c.896-30036C>A
c.2611C>A (p.His871Asn)
c.7654C>A (p.His2552Asn)
n.1583C>A
c.7783C>A (p.His2595Asn)
2g.73489739C=CA1260981133ALMS1c.7399C= (p.His2467=)
c.791C=
c.4851C=
c.1846C= (p.His616=)
c.7780C= (p.His2594=)
c.896-30036C=
c.2611C= (p.His871=)
c.7654C= (p.His2552=)
n.1583C=
c.7783C= (p.His2595=)
2g.73489739C>GCA347264050ALMS1c.7399C>G (p.His2467Asp)
c.791C>G
c.4851C>G
c.1846C>G (p.His616Asp)
c.7780C>G (p.His2594Asp)
c.896-30036C>G
c.2611C>G (p.His871Asp)
c.7654C>G (p.His2552Asp)
n.1583C>G
c.7783C>G (p.His2595Asp)
2g.73489739C>TCA1714348ALMS1c.7399C>T (p.His2467Tyr)
c.791C>T
c.4851C>T
c.1846C>T (p.His616Tyr)
c.7780C>T (p.His2594Tyr)
c.896-30036C>T
c.2611C>T (p.His871Tyr)
c.7654C>T (p.His2552Tyr)
n.1583C>T
c.7783C>T (p.His2595Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489740A=CA1260981134ALMS1c.7400A= (p.His2467=)
c.792A=
c.4852A=
c.1847A= (p.His616=)
c.7781A= (p.His2594=)
c.896-30035A=
c.2612A= (p.His871=)
c.7655A= (p.His2552=)
n.1584A=
c.7784A= (p.His2595=)
2g.73489740A>CCA347264052ALMS1c.7400A>C (p.His2467Pro)
c.792A>C
c.4852A>C
c.1847A>C (p.His616Pro)
c.7781A>C (p.His2594Pro)
c.896-30035A>C
c.2612A>C (p.His871Pro)
c.7655A>C (p.His2552Pro)
n.1584A>C
c.7784A>C (p.His2595Pro)
2g.73489740A>GCA347264051ALMS1c.7400A>G (p.His2467Arg)
c.792A>G
c.4852A>G
c.1847A>G (p.His616Arg)
c.7781A>G (p.His2594Arg)
c.896-30035A>G
c.2612A>G (p.His871Arg)
c.7655A>G (p.His2552Arg)
n.1584A>G
c.7784A>G (p.His2595Arg)
 gnomAD v4
2g.73489740A>TCA50377462ALMS1c.7400A>T (p.His2467Leu)
c.792A>T
c.4852A>T
c.1847A>T (p.His616Leu)
c.7781A>T (p.His2594Leu)
c.896-30035A>T
c.2612A>T (p.His871Leu)
c.7655A>T (p.His2552Leu)
n.1584A>T
c.7784A>T (p.His2595Leu)
 dbSNP
2g.73489741T>ACA347264053ALMS1c.7401T>A (p.His2467Gln)
c.793T>A
c.4853T>A
c.1848T>A (p.His616Gln)
c.7782T>A (p.His2594Gln)
c.896-30034T>A
c.2613T>A (p.His871Gln)
c.7656T>A (p.His2552Gln)
n.1585T>A
c.7785T>A (p.His2595Gln)
2g.73489741T>CCA50377466ALMS1c.7401T>C (p.His2467=)
c.793T>C
c.4853T>C
c.1848T>C (p.His616=)
c.7782T>C (p.His2594=)
c.896-30034T>C
c.2613T>C (p.His871=)
c.7656T>C (p.His2552=)
n.1585T>C
c.7785T>C (p.His2595=)
 dbSNP gnomAD v3 gnomAD v4
2g.73489741T>GCA347264054ALMS1c.7401T>G (p.His2467Gln)
c.793T>G
c.4853T>G
c.1848T>G (p.His616Gln)
c.7782T>G (p.His2594Gln)
c.896-30034T>G
c.2613T>G (p.His871Gln)
c.7656T>G (p.His2552Gln)
n.1585T>G
c.7785T>G (p.His2595Gln)
2g.73489741T=CA1260981135ALMS1c.7401T= (p.His2467=)
c.793T=
c.4853T=
c.1848T= (p.His616=)
c.7782T= (p.His2594=)
c.896-30034T=
c.2613T= (p.His871=)
c.7656T= (p.His2552=)
n.1585T=
c.7785T= (p.His2595=)
2g.73489742C>ACA347264055ALMS1c.7402C>A (p.Pro2468Thr)
c.794C>A
c.4854C>A
c.1849C>A (p.Pro617Thr)
c.7783C>A (p.Pro2595Thr)
c.896-30033C>A
c.2614C>A (p.Pro872Thr)
c.7657C>A (p.Pro2553Thr)
n.1586C>A
c.7786C>A (p.Pro2596Thr)
2g.73489742C>GCA347264056ALMS1c.7402C>G (p.Pro2468Ala)
c.794C>G
c.4854C>G
c.1849C>G (p.Pro617Ala)
c.7783C>G (p.Pro2595Ala)
c.896-30033C>G
c.2614C>G (p.Pro872Ala)
c.7657C>G (p.Pro2553Ala)
n.1586C>G
c.7786C>G (p.Pro2596Ala)
2g.73489742C>TCA347264057ALMS1c.7402C>T (p.Pro2468Ser)
c.794C>T
c.4854C>T
c.1849C>T (p.Pro617Ser)
c.7783C>T (p.Pro2595Ser)
c.896-30033C>T
c.2614C>T (p.Pro872Ser)
c.7657C>T (p.Pro2553Ser)
n.1586C>T
c.7786C>T (p.Pro2596Ser)
2g.73489743C>ACA347264058ALMS1c.7403C>A (p.Pro2468Gln)
c.795C>A
c.4855C>A
c.1850C>A (p.Pro617Gln)
c.7784C>A (p.Pro2595Gln)
c.896-30032C>A
c.2615C>A (p.Pro872Gln)
c.7658C>A (p.Pro2553Gln)
n.1587C>A
c.7787C>A (p.Pro2596Gln)
2g.73489743C>GCA347264059ALMS1c.7403C>G (p.Pro2468Arg)
c.795C>G
c.4855C>G
c.1850C>G (p.Pro617Arg)
c.7784C>G (p.Pro2595Arg)
c.896-30032C>G
c.2615C>G (p.Pro872Arg)
c.7658C>G (p.Pro2553Arg)
n.1587C>G
c.7787C>G (p.Pro2596Arg)
2g.73489743C>TCA347264060ALMS1c.7403C>T (p.Pro2468Leu)
c.795C>T
c.4855C>T
c.1850C>T (p.Pro617Leu)
c.7784C>T (p.Pro2595Leu)
c.896-30032C>T
c.2615C>T (p.Pro872Leu)
c.7658C>T (p.Pro2553Leu)
n.1587C>T
c.7787C>T (p.Pro2596Leu)
2g.73489744A=CA1260981136ALMS1c.7404A= (p.Pro2468=)
c.796A=
c.4856A=
c.1851A= (p.Pro617=)
c.7785A= (p.Pro2595=)
c.896-30031A=
c.2616A= (p.Pro872=)
c.7659A= (p.Pro2553=)
n.1588A=
c.7788A= (p.Pro2596=)
2g.73489744A>CCA426765670ALMS1c.7404A>C (p.Pro2468=)
c.796A>C
c.4856A>C
c.1851A>C (p.Pro617=)
c.7785A>C (p.Pro2595=)
c.896-30031A>C
c.2616A>C (p.Pro872=)
c.7659A>C (p.Pro2553=)
n.1588A>C
c.7788A>C (p.Pro2596=)
2g.73489744A>GCA1714349ALMS1c.7404A>G (p.Pro2468=)
c.796A>G
c.4856A>G
c.1851A>G (p.Pro617=)
c.7785A>G (p.Pro2595=)
c.896-30031A>G
c.2616A>G (p.Pro872=)
c.7659A>G (p.Pro2553=)
n.1588A>G
c.7788A>G (p.Pro2596=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73489744A>TCA426765672ALMS1c.7404A>T (p.Pro2468=)
c.796A>T
c.4856A>T
c.1851A>T (p.Pro617=)
c.7785A>T (p.Pro2595=)
c.896-30031A>T
c.2616A>T (p.Pro872=)
c.7659A>T (p.Pro2553=)
n.1588A>T
c.7788A>T (p.Pro2596=)
2g.73489745C>ACA347264061ALMS1c.7405C>A (p.Gln2469Lys)
c.797C>A
c.4857C>A
c.1852C>A (p.Gln618Lys)
c.7786C>A (p.Gln2596Lys)
c.896-30030C>A
c.2617C>A (p.Gln873Lys)
c.7660C>A (p.Gln2554Lys)
n.1589C>A
c.7789C>A (p.Gln2597Lys)
2g.73489745C=CA1260981137ALMS1c.7405C= (p.Gln2469=)
c.797C=
c.4857C=
c.1852C= (p.Gln618=)
c.7786C= (p.Gln2596=)
c.896-30030C=
c.2617C= (p.Gln873=)
c.7660C= (p.Gln2554=)
n.1589C=
c.7789C= (p.Gln2597=)
2g.73489745C>GCA347264062ALMS1c.7405C>G (p.Gln2469Glu)
c.797C>G
c.4857C>G
c.1852C>G (p.Gln618Glu)
c.7786C>G (p.Gln2596Glu)
c.896-30030C>G
c.2617C>G (p.Gln873Glu)
c.7660C>G (p.Gln2554Glu)
n.1589C>G
c.7789C>G (p.Gln2597Glu)
2g.73489745C>TCA347264063ALMS1c.7405C>T (p.Gln2469Ter)
c.797C>T
c.4857C>T
c.1852C>T (p.Gln618Ter)
c.7786C>T (p.Gln2596Ter)
c.896-30030C>T
c.2617C>T (p.Gln873Ter)
c.7660C>T (p.Gln2554Ter)
n.1589C>T
c.7789C>T (p.Gln2597Ter)
 ClinVar dbSNP
2g.73489746A>CCA347264066ALMS1c.7406A>C (p.Gln2469Pro)
c.798A>C
c.4858A>C
c.1853A>C (p.Gln618Pro)
c.7787A>C (p.Gln2596Pro)
c.896-30029A>C
c.2618A>C (p.Gln873Pro)
c.7661A>C (p.Gln2554Pro)
n.1590A>C
c.7790A>C (p.Gln2597Pro)
2g.73489746A>GCA347264065ALMS1c.7406A>G (p.Gln2469Arg)
c.798A>G
c.4858A>G
c.1853A>G (p.Gln618Arg)
c.7787A>G (p.Gln2596Arg)
c.896-30029A>G
c.2618A>G (p.Gln873Arg)
c.7661A>G (p.Gln2554Arg)
n.1590A>G
c.7790A>G (p.Gln2597Arg)
2g.73489746A>TCA347264064ALMS1c.7406A>T (p.Gln2469Leu)
c.798A>T
c.4858A>T
c.1853A>T (p.Gln618Leu)
c.7787A>T (p.Gln2596Leu)
c.896-30029A>T
c.2618A>T (p.Gln873Leu)
c.7661A>T (p.Gln2554Leu)
n.1590A>T
c.7790A>T (p.Gln2597Leu)
2g.73489747A=CA1260981138ALMS1c.7407A= (p.Gln2469=)
c.799A=
c.4859A=
c.1854A= (p.Gln618=)
c.7788A= (p.Gln2596=)
c.896-30028A=
c.2619A= (p.Gln873=)
c.7662A= (p.Gln2554=)
n.1591A=
c.7791A= (p.Gln2597=)
2g.73489747A>CCA1714350ALMS1c.7407A>C (p.Gln2469His)
c.799A>C
c.4859A>C
c.1854A>C (p.Gln618His)
c.7788A>C (p.Gln2596His)
c.896-30028A>C
c.2619A>C (p.Gln873His)
c.7662A>C (p.Gln2554His)
n.1591A>C
c.7791A>C (p.Gln2597His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489747A>GCA426765678ALMS1c.7407A>G (p.Gln2469=)
c.799A>G
c.4859A>G
c.1854A>G (p.Gln618=)
c.7788A>G (p.Gln2596=)
c.896-30028A>G
c.2619A>G (p.Gln873=)
c.7662A>G (p.Gln2554=)
n.1591A>G
c.7791A>G (p.Gln2597=)
 ClinVar gnomAD v4
2g.73489747A>TCA347264067ALMS1c.7407A>T (p.Gln2469His)
c.799A>T
c.4859A>T
c.1854A>T (p.Gln618His)
c.7788A>T (p.Gln2596His)
c.896-30028A>T
c.2619A>T (p.Gln873His)
c.7662A>T (p.Gln2554His)
n.1591A>T
c.7791A>T (p.Gln2597His)
 gnomAD v4
2g.73489748C>ACA347264068ALMS1c.7408C>A (p.Leu2470Ile)
c.800C>A
c.4860C>A
c.1855C>A (p.Leu619Ile)
c.7789C>A (p.Leu2597Ile)
c.896-30027C>A
c.2620C>A (p.Leu874Ile)
c.7663C>A (p.Leu2555Ile)
n.1592C>A
c.7792C>A (p.Leu2598Ile)
2g.73489748C>GCA347264069ALMS1c.7408C>G (p.Leu2470Val)
c.800C>G
c.4860C>G
c.1855C>G (p.Leu619Val)
c.7789C>G (p.Leu2597Val)
c.896-30027C>G
c.2620C>G (p.Leu874Val)
c.7663C>G (p.Leu2555Val)
n.1592C>G
c.7792C>G (p.Leu2598Val)
2g.73489748C>TCA426765681ALMS1c.7408C>T (p.Leu2470=)
c.800C>T
c.4860C>T
c.1855C>T (p.Leu619=)
c.7789C>T (p.Leu2597=)
c.896-30027C>T
c.2620C>T (p.Leu874=)
c.7663C>T (p.Leu2555=)
n.1592C>T
c.7792C>T (p.Leu2598=)
 ClinVar
2g.73489749T>ACA347264070ALMS1c.7409T>A (p.Leu2470Gln)
c.801T>A
c.4861T>A
c.1856T>A (p.Leu619Gln)
c.7790T>A (p.Leu2597Gln)
c.896-30026T>A
c.2621T>A (p.Leu874Gln)
c.7664T>A (p.Leu2555Gln)
n.1593T>A
c.7793T>A (p.Leu2598Gln)
2g.73489749T>CCA347264072ALMS1c.7409T>C (p.Leu2470Pro)
c.801T>C
c.4861T>C
c.1856T>C (p.Leu619Pro)
c.7790T>C (p.Leu2597Pro)
c.896-30026T>C
c.2621T>C (p.Leu874Pro)
c.7664T>C (p.Leu2555Pro)
n.1593T>C
c.7793T>C (p.Leu2598Pro)
2g.73489749T>GCA347264071ALMS1c.7409T>G (p.Leu2470Arg)
c.801T>G
c.4861T>G
c.1856T>G (p.Leu619Arg)
c.7790T>G (p.Leu2597Arg)
c.896-30026T>G
c.2621T>G (p.Leu874Arg)
c.7664T>G (p.Leu2555Arg)
n.1593T>G
c.7793T>G (p.Leu2598Arg)
 dbSNP
2g.73489749T=CA1260981139ALMS1c.7409T= (p.Leu2470=)
c.801T=
c.4861T=
c.1856T= (p.Leu619=)
c.7790T= (p.Leu2597=)
c.896-30026T=
c.2621T= (p.Leu874=)
c.7664T= (p.Leu2555=)
n.1593T=
c.7793T= (p.Leu2598=)
2g.73489750A=CA1260981140ALMS1c.7410A= (p.Leu2470=)
c.802A=
c.4862A=
c.1857A= (p.Leu619=)
c.7791A= (p.Leu2597=)
c.896-30025A=
c.2622A= (p.Leu874=)
c.7665A= (p.Leu2555=)
n.1594A=
c.7794A= (p.Leu2598=)
2g.73489750A>CCA50377479ALMS1c.7410A>C (p.Leu2470=)
c.802A>C
c.4862A>C
c.1857A>C (p.Leu619=)
c.7791A>C (p.Leu2597=)
c.896-30025A>C
c.2622A>C (p.Leu874=)
c.7665A>C (p.Leu2555=)
n.1594A>C
c.7794A>C (p.Leu2598=)
 dbSNP
2g.73489750A>GCA1714351ALMS1c.7410A>G (p.Leu2470=)
c.802A>G
c.4862A>G
c.1857A>G (p.Leu619=)
c.7791A>G (p.Leu2597=)
c.896-30025A>G
c.2622A>G (p.Leu874=)
c.7665A>G (p.Leu2555=)
n.1594A>G
c.7794A>G (p.Leu2598=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489750A>TCA426765688ALMS1c.7410A>T (p.Leu2470=)
c.802A>T
c.4862A>T
c.1857A>T (p.Leu619=)
c.7791A>T (p.Leu2597=)
c.896-30025A>T
c.2622A>T (p.Leu874=)
c.7665A>T (p.Leu2555=)
n.1594A>T
c.7794A>T (p.Leu2598=)
2g.73489751G>ACA347264073ALMS1c.7411G>A (p.Asp2471Asn)
c.803G>A
c.4863G>A
c.1858G>A (p.Asp620Asn)
c.7792G>A (p.Asp2598Asn)
c.896-30024G>A
c.2623G>A (p.Asp875Asn)
c.7666G>A (p.Asp2556Asn)
n.1595G>A
c.7795G>A (p.Asp2599Asn)
2g.73489751G>CCA347264074ALMS1c.7411G>C (p.Asp2471His)
c.803G>C
c.4863G>C
c.1858G>C (p.Asp620His)
c.7792G>C (p.Asp2598His)
c.896-30024G>C
c.2623G>C (p.Asp875His)
c.7666G>C (p.Asp2556His)
n.1595G>C
c.7795G>C (p.Asp2599His)
2g.73489751G=CA1260981141ALMS1c.7411G= (p.Asp2471=)
c.803G=
c.4863G=
c.1858G= (p.Asp620=)
c.7792G= (p.Asp2598=)
c.896-30024G=
c.2623G= (p.Asp875=)
c.7666G= (p.Asp2556=)
n.1595G=
c.7795G= (p.Asp2599=)
2g.73489751G>TCA1714352ALMS1c.7411G>T (p.Asp2471Tyr)
c.803G>T
c.4863G>T
c.1858G>T (p.Asp620Tyr)
c.7792G>T (p.Asp2598Tyr)
c.896-30024G>T
c.2623G>T (p.Asp875Tyr)
c.7666G>T (p.Asp2556Tyr)
n.1595G>T
c.7795G>T (p.Asp2599Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489752A=CA1260981142ALMS1c.7412A= (p.Asp2471=)
c.804A=
c.4864A=
c.1859A= (p.Asp620=)
c.7793A= (p.Asp2598=)
c.896-30023A=
c.2624A= (p.Asp875=)
c.7667A= (p.Asp2556=)
n.1596A=
c.7796A= (p.Asp2599=)
2g.73489752A>CCA347264075ALMS1c.7412A>C (p.Asp2471Ala)
c.804A>C
c.4864A>C
c.1859A>C (p.Asp620Ala)
c.7793A>C (p.Asp2598Ala)
c.896-30023A>C
c.2624A>C (p.Asp875Ala)
c.7667A>C (p.Asp2556Ala)
n.1596A>C
c.7796A>C (p.Asp2599Ala)
2g.73489752A>GCA347264076ALMS1c.7412A>G (p.Asp2471Gly)
c.804A>G
c.4864A>G
c.1859A>G (p.Asp620Gly)
c.7793A>G (p.Asp2598Gly)
c.896-30023A>G
c.2624A>G (p.Asp875Gly)
c.7667A>G (p.Asp2556Gly)
n.1596A>G
c.7796A>G (p.Asp2599Gly)
 dbSNP gnomAD v4
2g.73489752A>TCA347264077ALMS1c.7412A>T (p.Asp2471Val)
c.804A>T
c.4864A>T
c.1859A>T (p.Asp620Val)
c.7793A>T (p.Asp2598Val)
c.896-30023A>T
c.2624A>T (p.Asp875Val)
c.7667A>T (p.Asp2556Val)
n.1596A>T
c.7796A>T (p.Asp2599Val)
2g.73489753T>ACA347264078ALMS1c.7413T>A (p.Asp2471Glu)
c.805T>A
c.4865T>A
c.1860T>A (p.Asp620Glu)
c.7794T>A (p.Asp2598Glu)
c.896-30022T>A
c.2625T>A (p.Asp875Glu)
c.7668T>A (p.Asp2556Glu)
n.1597T>A
c.7797T>A (p.Asp2599Glu)
2g.73489753T>CCA426765699ALMS1c.7413T>C (p.Asp2471=)
c.805T>C
c.4865T>C
c.1860T>C (p.Asp620=)
c.7794T>C (p.Asp2598=)
c.896-30022T>C
c.2625T>C (p.Asp875=)
c.7668T>C (p.Asp2556=)
n.1597T>C
c.7797T>C (p.Asp2599=)
 gnomAD v4
2g.73489753T>GCA347264079ALMS1c.7413T>G (p.Asp2471Glu)
c.805T>G
c.4865T>G
c.1860T>G (p.Asp620Glu)
c.7794T>G (p.Asp2598Glu)
c.896-30022T>G
c.2625T>G (p.Asp875Glu)
c.7668T>G (p.Asp2556Glu)
n.1597T>G
c.7797T>G (p.Asp2599Glu)
2g.73489754A>CCA426765705ALMS1c.7414A>C (p.Arg2472=)
c.806A>C
c.4866A>C
c.1861A>C (p.Arg621=)
c.7795A>C (p.Arg2599=)
c.896-30021A>C
c.2626A>C (p.Arg876=)
c.7669A>C (p.Arg2557=)
n.1598A>C
c.7798A>C (p.Arg2600=)
2g.73489754A>GCA347264080ALMS1c.7414A>G (p.Arg2472Gly)
c.806A>G
c.4866A>G
c.1861A>G (p.Arg621Gly)
c.7795A>G (p.Arg2599Gly)
c.896-30021A>G
c.2626A>G (p.Arg876Gly)
c.7669A>G (p.Arg2557Gly)
n.1598A>G
c.7798A>G (p.Arg2600Gly)
 gnomAD v4
2g.73489754A>TCA347264081ALMS1c.7414A>T (p.Arg2472Ter)
c.806A>T
c.4866A>T
c.1861A>T (p.Arg621Ter)
c.7795A>T (p.Arg2599Ter)
c.896-30021A>T
c.2626A>T (p.Arg876Ter)
c.7669A>T (p.Arg2557Ter)
n.1598A>T
c.7798A>T (p.Arg2600Ter)
2g.73489755G>ACA347264082ALMS1c.7415G>A (p.Arg2472Lys)
c.807G>A
c.4867G>A
c.1862G>A (p.Arg621Lys)
c.7796G>A (p.Arg2599Lys)
c.896-30020G>A
c.2627G>A (p.Arg876Lys)
c.7670G>A (p.Arg2557Lys)
n.1599G>A
c.7799G>A (p.Arg2600Lys)
2g.73489755G>CCA347264083ALMS1c.7415G>C (p.Arg2472Thr)
c.807G>C
c.4867G>C
c.1862G>C (p.Arg621Thr)
c.7796G>C (p.Arg2599Thr)
c.896-30020G>C
c.2627G>C (p.Arg876Thr)
c.7670G>C (p.Arg2557Thr)
n.1599G>C
c.7799G>C (p.Arg2600Thr)
 gnomAD v4
2g.73489755G>TCA347264084ALMS1c.7415G>T (p.Arg2472Ile)
c.807G>T
c.4867G>T
c.1862G>T (p.Arg621Ile)
c.7796G>T (p.Arg2599Ile)
c.896-30020G>T
c.2627G>T (p.Arg876Ile)
c.7670G>T (p.Arg2557Ile)
n.1599G>T
c.7799G>T (p.Arg2600Ile)
2g.73489756A=CA1260981143ALMS1c.7416A= (p.Arg2472=)
c.808A=
c.4868A=
c.1863A= (p.Arg621=)
c.7797A= (p.Arg2599=)
c.896-30019A=
c.2628A= (p.Arg876=)
c.7671A= (p.Arg2557=)
n.1600A=
c.7800A= (p.Arg2600=)
2g.73489756A>CCA347264085ALMS1c.7416A>C (p.Arg2472Ser)
c.808A>C
c.4868A>C
c.1863A>C (p.Arg621Ser)
c.7797A>C (p.Arg2599Ser)
c.896-30019A>C
c.2628A>C (p.Arg876Ser)
c.7671A>C (p.Arg2557Ser)
n.1600A>C
c.7800A>C (p.Arg2600Ser)
2g.73489756A>GCA426765716ALMS1c.7416A>G (p.Arg2472=)
c.808A>G
c.4868A>G
c.1863A>G (p.Arg621=)
c.7797A>G (p.Arg2599=)
c.896-30019A>G
c.2628A>G (p.Arg876=)
c.7671A>G (p.Arg2557=)
n.1600A>G
c.7800A>G (p.Arg2600=)
 ClinVar dbSNP gnomAD v4
2g.73489756A>TCA347264086ALMS1c.7416A>T (p.Arg2472Ser)
c.808A>T
c.4868A>T
c.1863A>T (p.Arg621Ser)
c.7797A>T (p.Arg2599Ser)
c.896-30019A>T
c.2628A>T (p.Arg876Ser)
c.7671A>T (p.Arg2557Ser)
n.1600A>T
c.7800A>T (p.Arg2600Ser)
2g.73489757C>ACA347264087ALMS1c.7417C>A (p.His2473Asn)
c.809C>A
c.4869C>A
c.1864C>A (p.His622Asn)
c.7798C>A (p.His2600Asn)
c.896-30018C>A
c.2629C>A (p.His877Asn)
c.7672C>A (p.His2558Asn)
n.1601C>A
c.7801C>A (p.His2601Asn)
2g.73489757C>GCA347264088ALMS1c.7417C>G (p.His2473Asp)
c.809C>G
c.4869C>G
c.1864C>G (p.His622Asp)
c.7798C>G (p.His2600Asp)
c.896-30018C>G
c.2629C>G (p.His877Asp)
c.7672C>G (p.His2558Asp)
n.1601C>G
c.7801C>G (p.His2601Asp)
2g.73489757C>TCA347264089ALMS1c.7417C>T (p.His2473Tyr)
c.809C>T
c.4869C>T
c.1864C>T (p.His622Tyr)
c.7798C>T (p.His2600Tyr)
c.896-30018C>T
c.2629C>T (p.His877Tyr)
c.7672C>T (p.His2558Tyr)
n.1601C>T
c.7801C>T (p.His2601Tyr)
2g.73489758A=CA1260981144ALMS1c.7418A= (p.His2473=)
c.810A=
c.4870A=
c.1865A= (p.His622=)
c.7799A= (p.His2600=)
c.896-30017A=
c.2630A= (p.His877=)
c.7673A= (p.His2558=)
n.1602A=
c.7802A= (p.His2601=)
2g.73489758A>CCA347264090ALMS1c.7418A>C (p.His2473Pro)
c.810A>C
c.4870A>C
c.1865A>C (p.His622Pro)
c.7799A>C (p.His2600Pro)
c.896-30017A>C
c.2630A>C (p.His877Pro)
c.7673A>C (p.His2558Pro)
n.1602A>C
c.7802A>C (p.His2601Pro)
2g.73489758A>GCA347264091ALMS1c.7418A>G (p.His2473Arg)
c.810A>G
c.4870A>G
c.1865A>G (p.His622Arg)
c.7799A>G (p.His2600Arg)
c.896-30017A>G
c.2630A>G (p.His877Arg)
c.7673A>G (p.His2558Arg)
n.1602A>G
c.7802A>G (p.His2601Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73489758A>TCA347264092ALMS1c.7418A>T (p.His2473Leu)
c.810A>T
c.4870A>T
c.1865A>T (p.His622Leu)
c.7799A>T (p.His2600Leu)
c.896-30017A>T
c.2630A>T (p.His877Leu)
c.7673A>T (p.His2558Leu)
n.1602A>T
c.7802A>T (p.His2601Leu)
2g.73489759C>ACA347264093ALMS1c.7419C>A (p.His2473Gln)
c.811C>A
c.4871C>A
c.1866C>A (p.His622Gln)
c.7800C>A (p.His2600Gln)
c.896-30016C>A
c.2631C>A (p.His877Gln)
c.7674C>A (p.His2558Gln)
n.1603C>A
c.7803C>A (p.His2601Gln)
 gnomAD v4
2g.73489759C>GCA347264094ALMS1c.7419C>G (p.His2473Gln)
c.811C>G
c.4871C>G
c.1866C>G (p.His622Gln)
c.7800C>G (p.His2600Gln)
c.896-30016C>G
c.2631C>G (p.His877Gln)
c.7674C>G (p.His2558Gln)
n.1603C>G
c.7803C>G (p.His2601Gln)
 gnomAD v4
2g.73489759C>TCA426765733ALMS1c.7419C>T (p.His2473=)
c.811C>T
c.4871C>T
c.1866C>T (p.His622=)
c.7800C>T (p.His2600=)
c.896-30016C>T
c.2631C>T (p.His877=)
c.7674C>T (p.His2558=)
n.1603C>T
c.7803C>T (p.His2601=)
 ClinVar
2g.73489760C>ACA347264095ALMS1c.7420C>A (p.Pro2474Thr)
c.812C>A
c.4872C>A
c.1867C>A (p.Pro623Thr)
c.7801C>A (p.Pro2601Thr)
c.896-30015C>A
c.2632C>A (p.Pro878Thr)
c.7675C>A (p.Pro2559Thr)
n.1604C>A
c.7804C>A (p.Pro2602Thr)
2g.73489760C=CA1260981145ALMS1c.7420C= (p.Pro2474=)
c.812C=
c.4872C=
c.1867C= (p.Pro623=)
c.7801C= (p.Pro2601=)
c.896-30015C=
c.2632C= (p.Pro878=)
c.7675C= (p.Pro2559=)
n.1604C=
c.7804C= (p.Pro2602=)
2g.73489760C>GCA347264096ALMS1c.7420C>G (p.Pro2474Ala)
c.812C>G
c.4872C>G
c.1867C>G (p.Pro623Ala)
c.7801C>G (p.Pro2601Ala)
c.896-30015C>G
c.2632C>G (p.Pro878Ala)
c.7675C>G (p.Pro2559Ala)
n.1604C>G
c.7804C>G (p.Pro2602Ala)
 ClinVar
2g.73489760C>TCA347264097ALMS1c.7420C>T (p.Pro2474Ser)
c.812C>T
c.4872C>T
c.1867C>T (p.Pro623Ser)
c.7801C>T (p.Pro2601Ser)
c.896-30015C>T
c.2632C>T (p.Pro878Ser)
c.7675C>T (p.Pro2559Ser)
n.1604C>T
c.7804C>T (p.Pro2602Ser)
 ClinVar dbSNP gnomAD v4

Number of alleles fetched