Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.148470393C>ACA348721890MBD5c.886C>A
c.2450C>A (p.Ser817Ter)
c.1669C>A
n.3679C>A
n.2762C>A
2g.148470393C>GCA348721891MBD5c.886C>G
c.2450C>G (p.Ser817Ter)
c.1669C>G
n.3679C>G
n.2762C>G
2g.148470393C>TCA348721892MBD5c.886C>T
c.2450C>T (p.Ser817Leu)
c.1669C>T
n.3679C>T
n.2762C>T
2g.148470394A=CA1296773975MBD5c.887A=
c.2451A= (p.Ser817=)
c.1670A=
n.3680A=
n.2763A=
2g.148470394A>CCA429447641MBD5c.887A>C
c.2451A>C (p.Ser817=)
c.1670A>C
n.3680A>C
n.2763A>C
2g.148470394A>GCA1900143MBD5c.887A>G
c.2451A>G (p.Ser817=)
c.1670A>G
n.3680A>G
n.2763A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.148470394A>TCA429447642MBD5c.887A>T
c.2451A>T (p.Ser817=)
c.1670A>T
n.3680A>T
n.2763A>T
 gnomAD v4
2g.148470395A=CA1296773976MBD5c.888A=
c.2452A= (p.Thr818=)
c.1671A=
n.3681A=
n.2764A=
2g.148470395A>CCA348721893MBD5c.888A>C
c.2452A>C (p.Thr818Pro)
c.1671A>C
n.3681A>C
n.2764A>C
2g.148470395A>GCA1900144MBD5c.888A>G
c.2452A>G (p.Thr818Ala)
c.1671A>G
n.3681A>G
n.2764A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.148470395A>TCA348721894MBD5c.888A>T
c.2452A>T (p.Thr818Ser)
c.1671A>T
n.3681A>T
n.2764A>T
2g.148470395_148470396insGGCA2557219354MBD5c.888_889insGG
c.2452_2453insGG (p.Thr818ArgfsTer7)
c.1671_1672insGG
n.3681_3682insGG
n.2764_2765insGG
2g.148470396C>ACA348721895MBD5c.889C>A
c.2453C>A (p.Thr818Lys)
c.1672C>A
n.3682C>A
n.2765C>A
 gnomAD v4
2g.148470396C=CA1296773977MBD5c.889C=
c.2453C= (p.Thr818=)
c.1672C=
n.3682C=
n.2765C=
2g.148470396C>GCA348721897MBD5c.889C>G
c.2453C>G (p.Thr818Arg)
c.1672C>G
n.3682C>G
n.2765C>G
 ClinVar dbSNP gnomAD v4
2g.148470396C>TCA348721896MBD5c.889C>T
c.2453C>T (p.Thr818Met)
c.1672C>T
n.3682C>T
n.2765C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.148470397G>ACA1900145MBD5c.890G>A
c.2454G>A (p.Thr818=)
c.1673G>A
n.3683G>A
n.2766G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.148470397G>CCA429447644MBD5c.890G>C
c.2454G>C (p.Thr818=)
c.1673G>C
n.3683G>C
n.2766G>C
2g.148470397G=CA1296773978MBD5c.890G=
c.2454G= (p.Thr818=)
c.1673G=
n.3683G=
n.2766G=
2g.148470397G>TCA429447643MBD5c.890G>T
c.2454G>T (p.Thr818=)
c.1673G>T
n.3683G>T
n.2766G>T
2g.148470397_148470398delCA2752612982MBD5c.890_891del
c.2454_2455del (p.Ser819LeufsTer11)
c.1673_1674del
n.3683_3684del
n.2766_2767del
2g.148470398T>ACA348721898MBD5c.891T>A
c.2455T>A (p.Ser819Thr)
c.1674T>A
n.3684T>A
n.2767T>A
2g.148470398T>CCA348721899MBD5c.891T>C
c.2455T>C (p.Ser819Pro)
c.1674T>C
n.3684T>C
n.2767T>C
2g.148470398T>GCA348721900MBD5c.891T>G
c.2455T>G (p.Ser819Ala)
c.1674T>G
n.3684T>G
n.2767T>G
 gnomAD v4
2g.148470399C>ACA348721901MBD5c.892C>A
c.2456C>A (p.Ser819Tyr)
c.1675C>A
n.3685C>A
n.2768C>A
2g.148470399C>GCA348721903MBD5c.892C>G
c.2456C>G (p.Ser819Cys)
c.1675C>G
n.3685C>G
n.2768C>G
2g.148470399C>TCA348721902MBD5c.892C>T
c.2456C>T (p.Ser819Phe)
c.1675C>T
n.3685C>T
n.2768C>T
 gnomAD v4
2g.148470400C>ACA429447647MBD5c.893C>A
c.2457C>A (p.Ser819=)
c.1676C>A
n.3686C>A
n.2769C>A
2g.148470400C>GCA429447645MBD5c.893C>G
c.2457C>G (p.Ser819=)
c.1676C>G
n.3686C>G
n.2769C>G
2g.148470400C>TCA429447646MBD5c.893C>T
c.2457C>T (p.Ser819=)
c.1676C>T
n.3686C>T
n.2769C>T
 COSMIC
2g.148470401T>ACA348721904MBD5c.894T>A
c.2458T>A (p.Ser820Thr)
c.1677T>A
n.3687T>A
n.2770T>A
2g.148470401T>CCA348721905MBD5c.894T>C
c.2458T>C (p.Ser820Pro)
c.1677T>C
n.3687T>C
n.2770T>C
2g.148470401T>GCA348721906MBD5c.894T>G
c.2458T>G (p.Ser820Ala)
c.1677T>G
n.3687T>G
n.2770T>G
2g.148470402C>ACA348721907MBD5c.895C>A
c.2459C>A (p.Ser820Tyr)
c.1678C>A
n.3688C>A
n.2771C>A
2g.148470402C>GCA348721908MBD5c.895C>G
c.2459C>G (p.Ser820Cys)
c.1678C>G
n.3688C>G
n.2771C>G
2g.148470402C>TCA348721909MBD5c.895C>T
c.2459C>T (p.Ser820Phe)
c.1678C>T
n.3688C>T
n.2771C>T
 gnomAD v4
2g.148470403C>ACA429447532MBD5c.896C>A
c.2460C>A (p.Ser820=)
c.1679C>A
n.3689C>A
n.2772C>A
2g.148470403C>GCA429447534MBD5c.896C>G
c.2460C>G (p.Ser820=)
c.1679C>G
n.3689C>G
n.2772C>G
2g.148470403C>TCA429447533MBD5c.896C>T
c.2460C>T (p.Ser820=)
c.1679C>T
n.3689C>T
n.2772C>T
 COSMIC
2g.148470404A=CA1296773979MBD5c.897A=
c.2461A= (p.Thr821=)
c.1680A=
n.3690A=
n.2773A=
2g.148470404A>CCA348721910MBD5c.897A>C
c.2461A>C (p.Thr821Pro)
c.1680A>C
n.3690A>C
n.2773A>C
2g.148470404A>GCA348721911MBD5c.897A>G
c.2461A>G (p.Thr821Ala)
c.1680A>G
n.3690A>G
n.2773A>G
 gnomAD v4
2g.148470404A>TCA348721912MBD5c.897A>T
c.2461A>T (p.Thr821Ser)
c.1680A>T
n.3690A>T
n.2773A>T
 dbSNP gnomAD v2
2g.148470405C>ACA348721913MBD5c.898C>A
c.2462C>A (p.Thr821Asn)
c.1681C>A
n.3691C>A
n.2774C>A
2g.148470405C=CA1296773980MBD5c.898C=
c.2462C= (p.Thr821=)
c.1681C=
n.3691C=
n.2774C=
2g.148470405C>GCA348721914MBD5c.898C>G
c.2462C>G (p.Thr821Ser)
c.1681C>G
n.3691C>G
n.2774C>G
2g.148470405C>TCA1900146MBD5c.898C>T
c.2462C>T (p.Thr821Ile)
c.1681C>T
n.3691C>T
n.2774C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.148470406T>ACA429447535MBD5c.899T>A
c.2463T>A (p.Thr821=)
c.1682T>A
n.3692T>A
n.2775T>A
 gnomAD v4
2g.148470406T>CCA429447536MBD5c.899T>C
c.2463T>C (p.Thr821=)
c.1682T>C
n.3692T>C
n.2775T>C
2g.148470406T>GCA429447537MBD5c.899T>G
c.2463T>G (p.Thr821=)
c.1682T>G
n.3692T>G
n.2775T>G
2g.148470407C>ACA348721916MBD5c.900C>A
c.2464C>A (p.Pro822Thr)
c.1683C>A
n.3693C>A
n.2776C>A
2g.148470407C>GCA348721917MBD5c.900C>G
c.2464C>G (p.Pro822Ala)
c.1683C>G
n.3693C>G
n.2776C>G
2g.148470407C>TCA348721915MBD5c.900C>T
c.2464C>T (p.Pro822Ser)
c.1683C>T
n.3693C>T
n.2776C>T
 COSMIC
2g.148470408C>ACA348721918MBD5c.901C>A
c.2465C>A (p.Pro822Gln)
c.1684C>A
n.3694C>A
n.2777C>A
2g.148470408C>GCA348721920MBD5c.901C>G
c.2465C>G (p.Pro822Arg)
c.1684C>G
n.3694C>G
n.2777C>G
2g.148470408C>TCA348721919MBD5c.901C>T
c.2465C>T (p.Pro822Leu)
c.1684C>T
n.3694C>T
n.2777C>T
 ClinVar dbSNP
2g.148470409A=CA1296773981MBD5c.902A=
c.2466A= (p.Pro822=)
c.1685A=
n.3695A=
n.2778A=
2g.148470409A>CCA429447538MBD5c.902A>C
c.2466A>C (p.Pro822=)
c.1685A>C
n.3695A>C
n.2778A>C
2g.148470409A>GCA429447539MBD5c.902A>G
c.2466A>G (p.Pro822=)
c.1685A>G
n.3695A>G
n.2778A>G
 dbSNP
2g.148470409A>TCA429447540MBD5c.902A>T
c.2466A>T (p.Pro822=)
c.1685A>T
n.3695A>T
n.2778A>T
2g.148470410G>ACA348721921MBD5c.903G>A
c.2467G>A (p.Val823Met)
c.1686G>A
n.3696G>A
n.2779G>A
 dbSNP
2g.148470410G>CCA348721922MBD5c.903G>C
c.2467G>C (p.Val823Leu)
c.1686G>C
n.3696G>C
n.2779G>C
2g.148470410G=CA1296773982MBD5c.903G=
c.2467G= (p.Val823=)
c.1686G=
n.3696G=
n.2779G=
2g.148470410G>TCA348721923MBD5c.903G>T
c.2467G>T (p.Val823Leu)
c.1686G>T
n.3696G>T
n.2779G>T
2g.148470411T>ACA348721924MBD5c.904T>A
c.2468T>A (p.Val823Glu)
c.1687T>A
n.3697T>A
n.2780T>A
2g.148470411T>CCA348721925MBD5c.904T>C
c.2468T>C (p.Val823Ala)
c.1687T>C
n.3697T>C
n.2780T>C
 dbSNP gnomAD v2 gnomAD v4
2g.148470411T>GCA348721926MBD5c.904T>G
c.2468T>G (p.Val823Gly)
c.1687T>G
n.3697T>G
n.2780T>G
2g.148470411T=CA1296773983MBD5c.904T=
c.2468T= (p.Val823=)
c.1687T=
n.3697T=
n.2780T=
2g.148470412G>ACA429447542MBD5c.905G>A
c.2469G>A (p.Val823=)
c.1688G>A
n.3698G>A
n.2781G>A
 gnomAD v4
2g.148470412G>CCA429447543MBD5c.905G>C
c.2469G>C (p.Val823=)
c.1688G>C
n.3698G>C
n.2781G>C
2g.148470412G>TCA429447544MBD5c.905G>T
c.2469G>T (p.Val823=)
c.1688G>T
n.3698G>T
n.2781G>T
2g.148470413A>CCA348721927MBD5c.906A>C
c.2470A>C (p.Ile824Leu)
c.1689A>C
n.3699A>C
n.2782A>C
2g.148470413A>GCA348721928MBD5c.906A>G
c.2470A>G (p.Ile824Val)
c.1689A>G
n.3699A>G
n.2782A>G
2g.148470413A>TCA348721929MBD5c.906A>T
c.2470A>T (p.Ile824Leu)
c.1689A>T
n.3699A>T
n.2782A>T
2g.148470414T>ACA348721930MBD5c.907T>A
c.2471T>A (p.Ile824Lys)
c.1690T>A
n.3700T>A
n.2783T>A
2g.148470414T>CCA348721931MBD5c.907T>C
c.2471T>C (p.Ile824Thr)
c.1690T>C
n.3700T>C
n.2783T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.148470414T>GCA348721932MBD5c.907T>G
c.2471T>G (p.Ile824Arg)
c.1690T>G
n.3700T>G
n.2783T>G
2g.148470414T=CA1296773984MBD5c.907T=
c.2471T= (p.Ile824=)
c.1690T=
n.3700T=
n.2783T=
2g.148470415A=CA1296773985MBD5c.908A=
c.2472A= (p.Ile824=)
c.1691A=
n.3701A=
n.2784A=
2g.148470415A>CCA429447548MBD5c.908A>C
c.2472A>C (p.Ile824=)
c.1691A>C
n.3701A>C
n.2784A>C
 ClinVar dbSNP
2g.148470415A>GCA348721933MBD5c.908A>G
c.2472A>G (p.Ile824Met)
c.1691A>G
n.3701A>G
n.2784A>G
 ClinVar dbSNP
2g.148470415A>TCA429447549MBD5c.908A>T
c.2472A>T (p.Ile824=)
c.1691A>T
n.3701A>T
n.2784A>T
2g.148470416C>ACA348721934MBD5c.909C>A
c.2473C>A (p.Pro825Thr)
c.1692C>A
n.3702C>A
n.2785C>A
 gnomAD v4
2g.148470416C>GCA348721935MBD5c.909C>G
c.2473C>G (p.Pro825Ala)
c.1692C>G
n.3702C>G
n.2785C>G
2g.148470416C>TCA348721936MBD5c.909C>T
c.2473C>T (p.Pro825Ser)
c.1692C>T
n.3702C>T
n.2785C>T
 gnomAD v4
2g.148470417C>ACA348721937MBD5c.910C>A
c.2474C>A (p.Pro825Gln)
c.1693C>A
n.3703C>A
n.2786C>A
2g.148470417C>GCA348721938MBD5c.910C>G
c.2474C>G (p.Pro825Arg)
c.1693C>G
n.3703C>G
n.2786C>G
2g.148470417C>TCA348721939MBD5c.910C>T
c.2474C>T (p.Pro825Leu)
c.1693C>T
n.3703C>T
n.2786C>T
 COSMIC
2g.148470418A>CCA429447553MBD5c.911A>C
c.2475A>C (p.Pro825=)
c.1694A>C
n.3704A>C
n.2787A>C
2g.148470418A>GCA429447555MBD5c.911A>G
c.2475A>G (p.Pro825=)
c.1694A>G
n.3704A>G
n.2787A>G
2g.148470418A>TCA429447554MBD5c.911A>T
c.2475A>T (p.Pro825=)
c.1694A>T
n.3704A>T
n.2787A>T
2g.148470419A>CCA348721940MBD5c.912A>C
c.2476A>C (p.Asn826His)
c.1695A>C
n.3705A>C
n.2788A>C
2g.148470419A>GCA348721941MBD5c.912A>G
c.2476A>G (p.Asn826Asp)
c.1695A>G
n.3705A>G
n.2788A>G
2g.148470419A>TCA348721942MBD5c.912A>T
c.2476A>T (p.Asn826Tyr)
c.1695A>T
n.3705A>T
n.2788A>T
2g.148470420A>CCA348721943MBD5c.913A>C
c.2477A>C (p.Asn826Thr)
c.1696A>C
n.3706A>C
n.2789A>C
2g.148470420A>GCA348721944MBD5c.913A>G
c.2477A>G (p.Asn826Ser)
c.1696A>G
n.3706A>G
n.2789A>G
2g.148470420A>TCA348721945MBD5c.913A>T
c.2477A>T (p.Asn826Ile)
c.1696A>T
n.3706A>T
n.2789A>T
2g.148470421C>ACA348721946MBD5c.914C>A
c.2478C>A (p.Asn826Lys)
c.1697C>A
n.3707C>A
n.2790C>A
2g.148470421C>GCA348721947MBD5c.914C>G
c.2478C>G (p.Asn826Lys)
c.1697C>G
n.3707C>G
n.2790C>G
2g.148470421C>TCA429447560MBD5c.914C>T
c.2478C>T (p.Asn826=)
c.1697C>T
n.3707C>T
n.2790C>T
2g.148470422A>CCA348721950MBD5c.915A>C
c.2479A>C (p.Ser827Arg)
c.1698A>C
n.3708A>C
n.2791A>C
2g.148470422A>GCA348721948MBD5c.915A>G
c.2479A>G (p.Ser827Gly)
c.1698A>G
n.3708A>G
n.2791A>G
2g.148470422A>TCA348721949MBD5c.915A>T
c.2479A>T (p.Ser827Cys)
c.1698A>T
n.3708A>T
n.2791A>T
2g.148470422_148470423insCACCCAACCA2752612983MBD5c.915_916insCACCCAAC
c.2479_2480insCACCCAAC (p.Ser827ThrfsTer25)
c.1698_1699insCACCCAAC
c.2479_2480insCACCCAAC (p.Ser827ThrfsTer21)
n.3708_3709insCACCCAAC
n.2791_2792insCACCCAAC
2g.148470423G>ACA348721951MBD5c.916G>A
c.2480G>A (p.Ser827Asn)
c.1699G>A
n.3709G>A
n.2792G>A
2g.148470423G>CCA348721952MBD5c.916G>C
c.2480G>C (p.Ser827Thr)
c.1699G>C
n.3709G>C
n.2792G>C
2g.148470423G>TCA348721953MBD5c.916G>T
c.2480G>T (p.Ser827Ile)
c.1699G>T
n.3709G>T
n.2792G>T
2g.148470424C>ACA348721954MBD5c.917C>A
c.2481C>A (p.Ser827Arg)
c.1700C>A
n.3710C>A
n.2793C>A
2g.148470424C>GCA348721955MBD5c.917C>G
c.2481C>G (p.Ser827Arg)
c.1700C>G
n.3710C>G
n.2793C>G
2g.148470424C>TCA429447562MBD5c.917C>T
c.2481C>T (p.Ser827=)
c.1700C>T
n.3710C>T
n.2793C>T
2g.148470425A>CCA348721956MBD5c.918A>C
c.2482A>C (p.Ile828Leu)
c.1701A>C
n.3711A>C
n.2794A>C
 ClinVar dbSNP
2g.148470425A>GCA348721957MBD5c.918A>G
c.2482A>G (p.Ile828Val)
c.1701A>G
n.3711A>G
n.2794A>G
2g.148470425A>TCA348721958MBD5c.918A>T
c.2482A>T (p.Ile828Phe)
c.1701A>T
n.3711A>T
n.2794A>T
 COSMIC
2g.148470426T>ACA348721959MBD5c.919T>A
c.2483T>A (p.Ile828Asn)
c.1702T>A
n.3712T>A
n.2795T>A
2g.148470426T>CCA348721961MBD5c.919T>C
c.2483T>C (p.Ile828Thr)
c.1702T>C
n.3712T>C
n.2795T>C
2g.148470426T>GCA348721960MBD5c.919T>G
c.2483T>G (p.Ile828Ser)
c.1702T>G
n.3712T>G
n.2795T>G
2g.148470427T>ACA429447565MBD5c.920T>A
c.2484T>A (p.Ile828=)
c.1703T>A
n.3713T>A
n.2796T>A
2g.148470427T>CCA429447566MBD5c.920T>C
c.2484T>C (p.Ile828=)
c.1703T>C
n.3713T>C
n.2796T>C
2g.148470427T>GCA348721962MBD5c.920T>G
c.2484T>G (p.Ile828Met)
c.1703T>G
n.3713T>G
n.2796T>G
2g.148470428G>ACA348721963MBD5c.921G>A
c.2485G>A (p.Val829Ile)
c.1704G>A
n.3714G>A
n.2797G>A
2g.148470428G>CCA348721964MBD5c.921G>C
c.2485G>C (p.Val829Leu)
c.1704G>C
n.3714G>C
n.2797G>C
2g.148470428G>TCA348721965MBD5c.921G>T
c.2485G>T (p.Val829Phe)
c.1704G>T
n.3714G>T
n.2797G>T
2g.148470429T>ACA348721966MBD5c.922T>A
c.2486T>A (p.Val829Asp)
c.1705T>A
n.3715T>A
n.2798T>A
2g.148470429T>CCA348721968MBD5c.922T>C
c.2486T>C (p.Val829Ala)
c.1705T>C
n.3715T>C
n.2798T>C
 gnomAD v4
2g.148470429T>GCA348721967MBD5c.922T>G
c.2486T>G (p.Val829Gly)
c.1705T>G
n.3715T>G
n.2798T>G
2g.148470430T>ACA429447568MBD5c.923T>A
c.2487T>A (p.Val829=)
c.1706T>A
n.3716T>A
n.2799T>A
2g.148470430T>CCA429447570MBD5c.923T>C
c.2487T>C (p.Val829=)
c.1706T>C
n.3716T>C
n.2799T>C
2g.148470430T>GCA429447569MBD5c.923T>G
c.2487T>G (p.Val829=)
c.1706T>G
n.3716T>G
n.2799T>G
2g.148470431A=CA1296773986MBD5c.924A=
c.2488A= (p.Ser830=)
c.1707A=
n.3717A=
n.2800A=
2g.148470431A>CCA348721969MBD5c.924A>C
c.2488A>C (p.Ser830Arg)
c.1707A>C
n.3717A>C
n.2800A>C
2g.148470431A>GCA348721970MBD5c.924A>G
c.2488A>G (p.Ser830Gly)
c.1707A>G
n.3717A>G
n.2800A>G
 dbSNP gnomAD v2 gnomAD v4
2g.148470431A>TCA348721971MBD5c.924A>T
c.2488A>T (p.Ser830Cys)
c.1707A>T
n.3717A>T
n.2800A>T
2g.148470432G>ACA348721972MBD5c.925G>A
c.2489G>A (p.Ser830Asn)
c.1708G>A
n.3718G>A
n.2801G>A
 gnomAD v4
2g.148470432G>CCA348721973MBD5c.925G>C
c.2489G>C (p.Ser830Thr)
c.1708G>C
n.3718G>C
n.2801G>C
2g.148470432G>TCA348721974MBD5c.925G>T
c.2489G>T (p.Ser830Ile)
c.1708G>T
n.3718G>T
n.2801G>T
2g.148470433C>ACA348721975MBD5c.926C>A
c.2490C>A (p.Ser830Arg)
c.1709C>A
n.3719C>A
n.2802C>A
 gnomAD v4
2g.148470433C>GCA348721976MBD5c.926C>G
c.2490C>G (p.Ser830Arg)
c.1709C>G
n.3719C>G
n.2802C>G
2g.148470433C>TCA429447572MBD5c.926C>T
c.2490C>T (p.Ser830=)
c.1709C>T
n.3719C>T
n.2802C>T
2g.148470434A>CCA348721977MBD5c.927A>C
c.2491A>C (p.Ser831Arg)
c.1710A>C
n.3720A>C
n.2803A>C
2g.148470434A>GCA348721978MBD5c.927A>G
c.2491A>G (p.Ser831Gly)
c.1710A>G
n.3720A>G
n.2803A>G
 gnomAD v4
2g.148470434A>TCA348721979MBD5c.927A>T
c.2491A>T (p.Ser831Cys)
c.1710A>T
n.3720A>T
n.2803A>T
2g.148470435G>ACA348721982MBD5c.928G>A
c.2492G>A (p.Ser831Asn)
c.1711G>A
n.3721G>A
n.2804G>A
2g.148470435G>CCA348721980MBD5c.928G>C
c.2492G>C (p.Ser831Thr)
c.1711G>C
n.3721G>C
n.2804G>C
2g.148470435G>TCA348721981MBD5c.928G>T
c.2492G>T (p.Ser831Ile)
c.1711G>T
n.3721G>T
n.2804G>T
2g.148470436C>ACA348721983MBD5c.929C>A
c.2493C>A (p.Ser831Arg)
c.1712C>A
n.3722C>A
n.2805C>A
 gnomAD v4
2g.148470436C>GCA348721984MBD5c.929C>G
c.2493C>G (p.Ser831Arg)
c.1712C>G
n.3722C>G
n.2805C>G
2g.148470436C>TCA429447575MBD5c.929C>T
c.2493C>T (p.Ser831=)
c.1712C>T
n.3722C>T
n.2805C>T
2g.148470437T>ACA348721985MBD5c.930T>A
c.2494T>A (p.Tyr832Asn)
c.1713T>A
n.3723T>A
n.2806T>A
2g.148470437T>CCA348721986MBD5c.930T>C
c.2494T>C (p.Tyr832His)
c.1713T>C
n.3723T>C
n.2806T>C
 gnomAD v4
2g.148470437T>GCA348721987MBD5c.930T>G
c.2494T>G (p.Tyr832Asp)
c.1713T>G
n.3723T>G
n.2806T>G
2g.148470438A=CA1296773987MBD5c.931A=
c.2495A= (p.Tyr832=)
c.1714A=
n.3724A=
n.2807A=
2g.148470438A>CCA57579888MBD5c.931A>C
c.2495A>C (p.Tyr832Ser)
c.1714A>C
n.3724A>C
n.2807A>C
 dbSNP
2g.148470438A>GCA348721988MBD5c.931A>G
c.2495A>G (p.Tyr832Cys)
c.1714A>G
n.3724A>G
n.2807A>G
 ClinVar dbSNP gnomAD v4
2g.148470438A>TCA348721989MBD5c.931A>T
c.2495A>T (p.Tyr832Phe)
c.1714A>T
n.3724A>T
n.2807A>T
2g.148470439T>ACA348721990MBD5c.932T>A
c.2496T>A (p.Tyr832Ter)
c.1715T>A
n.3725T>A
n.2808T>A
2g.148470439T>CCA429447577MBD5c.932T>C
c.2496T>C (p.Tyr832=)
c.1715T>C
n.3725T>C
n.2808T>C
 dbSNP
2g.148470439T>GCA348721991MBD5c.932T>G
c.2496T>G (p.Tyr832Ter)
c.1715T>G
n.3725T>G
n.2808T>G
2g.148470439T=CA1296773988MBD5c.932T=
c.2496T= (p.Tyr832=)
c.1715T=
n.3725T=
n.2808T=
2g.148470440A>CCA348721992MBD5c.933A>C
c.2497A>C (p.Asn833His)
c.1716A>C
n.3726A>C
n.2809A>C
2g.148470440A>GCA348721993MBD5c.933A>G
c.2497A>G (p.Asn833Asp)
c.1716A>G
n.3726A>G
n.2809A>G
2g.148470440A>TCA348721994MBD5c.933A>T
c.2497A>T (p.Asn833Tyr)
c.1716A>T
n.3726A>T
n.2809A>T
2g.148470441A=CA1296773989MBD5c.934A=
c.2498A= (p.Asn833=)
c.1717A=
n.3727A=
n.2810A=
2g.148470441A>CCA348721997MBD5c.934A>C
c.2498A>C (p.Asn833Thr)
c.1717A>C
n.3727A>C
n.2810A>C
2g.148470441A>GCA348721996MBD5c.934A>G
c.2498A>G (p.Asn833Ser)
c.1717A>G
n.3727A>G
n.2810A>G
2g.148470441A>TCA348721995MBD5c.934A>T
c.2498A>T (p.Asn833Ile)
c.1717A>T
n.3727A>T
n.2810A>T
 ClinVar dbSNP
2g.148470442T>ACA348721998MBD5c.935T>A
c.2499T>A (p.Asn833Lys)
c.1718T>A
n.3728T>A
n.2811T>A
2g.148470442T>CCA429447581MBD5c.935T>C
c.2499T>C (p.Asn833=)
c.1718T>C
n.3728T>C
n.2811T>C
 dbSNP
2g.148470442T>GCA348721999MBD5c.935T>G
c.2499T>G (p.Asn833Lys)
c.1718T>G
n.3728T>G
n.2811T>G
2g.148470442T=CA1296773990MBD5c.935T=
c.2499T= (p.Asn833=)
c.1718T=
n.3728T=
n.2811T=
2g.148470443C>ACA57579890MBD5c.936C>A
c.2500C>A (p.Gln834Lys)
c.1719C>A
n.3729C>A
n.2812C>A
 dbSNP
2g.148470443C=CA1296773991MBD5c.936C=
c.2500C= (p.Gln834=)
c.1719C=
n.3729C=
n.2812C=
2g.148470443C>GCA348722000MBD5c.936C>G
c.2500C>G (p.Gln834Glu)
c.1719C>G
n.3729C>G
n.2812C>G
2g.148470443C>TCA348722001MBD5c.936C>T
c.2500C>T (p.Gln834Ter)
c.1719C>T
n.3729C>T
n.2812C>T
2g.148470444A=CA1296773992MBD5c.937A=
c.2501A= (p.Gln834=)
c.1720A=
n.3730A=
n.2813A=
2g.148470444A>CCA348722002MBD5c.937A>C
c.2501A>C (p.Gln834Pro)
c.1720A>C
n.3730A>C
n.2813A>C
 dbSNP gnomAD v3 gnomAD v4
2g.148470444A>GCA348722003MBD5c.937A>G
c.2501A>G (p.Gln834Arg)
c.1720A>G
n.3730A>G
n.2813A>G
2g.148470444A>TCA348722004MBD5c.937A>T
c.2501A>T (p.Gln834Leu)
c.1720A>T
n.3730A>T
n.2813A>T
2g.148470445A=CA1296773993MBD5c.938A=
c.2502A= (p.Gln834=)
c.1721A=
n.3731A=
n.2814A=
2g.148470445A>CCA1900147MBD5c.938A>C
c.2502A>C (p.Gln834His)
c.1721A>C
n.3731A>C
n.2814A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.148470445A>GCA429447583MBD5c.938A>G
c.2502A>G (p.Gln834=)
c.1721A>G
n.3731A>G
n.2814A>G
 dbSNP gnomAD v2 gnomAD v4
2g.148470445A>TCA348722005MBD5c.938A>T
c.2502A>T (p.Gln834His)
c.1721A>T
n.3731A>T
n.2814A>T
2g.148470446A=CA1296773994MBD5c.939A=
c.2503A= (p.Thr835=)
c.1722A=
n.3732A=
n.2815A=
2g.148470446A>CCA348722006MBD5c.939A>C
c.2503A>C (p.Thr835Pro)
c.1722A>C
n.3732A>C
n.2815A>C
2g.148470446A>GCA1900148MBD5c.939A>G
c.2503A>G (p.Thr835Ala)
c.1722A>G
n.3732A>G
n.2815A>G
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.148470446A>TCA348722007MBD5c.939A>T
c.2503A>T (p.Thr835Ser)
c.1722A>T
n.3732A>T
n.2815A>T
2g.148470447C>ACA348722010MBD5c.940C>A
c.2504C>A (p.Thr835Lys)
c.1723C>A
n.3733C>A
n.2816C>A
 gnomAD v4
2g.148470447C>GCA348722009MBD5c.940C>G
c.2504C>G (p.Thr835Arg)
c.1723C>G
n.3733C>G
n.2816C>G
2g.148470447C>TCA348722008MBD5c.940C>T
c.2504C>T (p.Thr835Ile)
c.1723C>T
n.3733C>T
n.2816C>T
2g.148470448A>CCA429447585MBD5c.941A>C
c.2505A>C (p.Thr835=)
c.1724A>C
n.3734A>C
n.2817A>C
2g.148470448A>GCA429447586MBD5c.941A>G
c.2505A>G (p.Thr835=)
c.1724A>G
n.3734A>G
n.2817A>G
2g.148470448A>TCA429447587MBD5c.941A>T
c.2505A>T (p.Thr835=)
c.1724A>T
n.3734A>T
n.2817A>T
2g.148470449A=CA1296773995MBD5c.942A=
c.2506A= (p.Ser836=)
c.1725A=
n.3735A=
n.2818A=
2g.148470449A>CCA348722013MBD5c.942A>C
c.2506A>C (p.Ser836Arg)
c.1725A>C
n.3735A>C
n.2818A>C
2g.148470449A>GCA348722011MBD5c.942A>G
c.2506A>G (p.Ser836Gly)
c.1725A>G
n.3735A>G
n.2818A>G
 dbSNP
2g.148470449A>TCA348722012MBD5c.942A>T
c.2506A>T (p.Ser836Cys)
c.1725A>T
n.3735A>T
n.2818A>T
2g.148470450G>ACA348722014MBD5c.943G>A
c.2507G>A (p.Ser836Asn)
c.1726G>A
n.3736G>A
n.2819G>A
2g.148470450G>CCA348722015MBD5c.943G>C
c.2507G>C (p.Ser836Thr)
c.1726G>C
n.3736G>C
n.2819G>C
2g.148470450G>TCA348722016MBD5c.943G>T
c.2507G>T (p.Ser836Ile)
c.1726G>T
n.3736G>T
n.2819G>T
2g.148470451T>ACA348722018MBD5c.944T>A
c.2508T>A (p.Ser836Arg)
c.1727T>A
n.3737T>A
n.2820T>A
2g.148470451T>CCA1900149MBD5c.944T>C
c.2508T>C (p.Ser836=)
c.1727T>C
n.3737T>C
n.2820T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.148470451T>GCA348722017MBD5c.944T>G
c.2508T>G (p.Ser836Arg)
c.1727T>G
n.3737T>G
n.2820T>G
2g.148470451T=CA1296773996MBD5c.944T=
c.2508T= (p.Ser836=)
c.1727T=
n.3737T=
n.2820T=
2g.148470452T>ACA348722019MBD5c.945T>A
c.2509T>A (p.Ser837Thr)
c.1728T>A
n.3738T>A
n.2821T>A
2g.148470452T>CCA348722020MBD5c.945T>C
c.2509T>C (p.Ser837Pro)
c.1728T>C
n.3738T>C
n.2821T>C
2g.148470452T>GCA348722021MBD5c.945T>G
c.2509T>G (p.Ser837Ala)
c.1728T>G
n.3738T>G
n.2821T>G
2g.148470453C>ACA348722022MBD5c.946C>A
c.2510C>A (p.Ser837Tyr)
c.1729C>A
n.3739C>A
n.2822C>A
 gnomAD v4
2g.148470453C>GCA348722023MBD5c.946C>G
c.2510C>G (p.Ser837Cys)
c.1729C>G
n.3739C>G
n.2822C>G
2g.148470453C>TCA348722024MBD5c.946C>T
c.2510C>T (p.Ser837Phe)
c.1729C>T
n.3739C>T
n.2822C>T
 COSMIC
2g.148470454T>ACA429447589MBD5c.947T>A
c.2511T>A (p.Ser837=)
c.1730T>A
n.3740T>A
n.2823T>A
 ClinVar dbSNP
2g.148470454T>CCA429447590MBD5c.947T>C
c.2511T>C (p.Ser837=)
c.1730T>C
n.3740T>C
n.2823T>C
2g.148470454T>GCA429447591MBD5c.947T>G
c.2511T>G (p.Ser837=)
c.1730T>G
n.3740T>G
n.2823T>G
2g.148470454T=CA1296773997MBD5c.947T=
c.2511T= (p.Ser837=)
c.1730T=
n.3740T=
n.2823T=
2g.148470455G>ACA348722025MBD5c.948G>A
c.2512G>A (p.Glu838Lys)
c.1731G>A
n.3741G>A
n.2824G>A
 gnomAD v4
2g.148470455G>CCA348722027MBD5c.948G>C
c.2512G>C (p.Glu838Gln)
c.1731G>C
n.3741G>C
n.2824G>C
2g.148470455G>TCA348722026MBD5c.948G>T
c.2512G>T (p.Glu838Ter)
c.1731G>T
n.3741G>T
n.2824G>T
2g.148470456A=CA1296773998MBD5c.949A=
c.2513A= (p.Glu838=)
c.1732A=
n.3742A=
n.2825A=
2g.148470456A>CCA348722028MBD5c.949A>C
c.2513A>C (p.Glu838Ala)
c.1732A>C
n.3742A>C
n.2825A>C
 gnomAD v4
2g.148470456A>GCA348722029MBD5c.949A>G
c.2513A>G (p.Glu838Gly)
c.1732A>G
n.3742A>G
n.2825A>G
 dbSNP
2g.148470456A>TCA348722030MBD5c.949A>T
c.2513A>T (p.Glu838Val)
c.1732A>T
n.3742A>T
n.2825A>T
2g.148470457A=CA1296773999MBD5c.950A=
c.2514A= (p.Glu838=)
c.1733A=
n.3743A=
n.2826A=
2g.148470457A>CCA348722031MBD5c.950A>C
c.2514A>C (p.Glu838Asp)
c.1733A>C
n.3743A>C
n.2826A>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.148470457A>GCA429447595MBD5c.950A>G
c.2514A>G (p.Glu838=)
c.1733A>G
n.3743A>G
n.2826A>G
2g.148470457A>TCA348722032MBD5c.950A>T
c.2514A>T (p.Glu838Asp)
c.1733A>T
n.3743A>T
n.2826A>T
2g.148470458G>ACA348722033MBD5c.951G>A
c.2515G>A (p.Ala839Thr)
c.1734G>A
n.3744G>A
n.2827G>A
2g.148470458G>CCA348722034MBD5c.951G>C
c.2515G>C (p.Ala839Pro)
c.1734G>C
n.3744G>C
n.2827G>C
2g.148470458G>TCA348722035MBD5c.951G>T
c.2515G>T (p.Ala839Ser)
c.1734G>T
n.3744G>T
n.2827G>T
2g.148470459C>ACA348722036MBD5c.952C>A
c.2516C>A (p.Ala839Glu)
c.1735C>A
n.3745C>A
n.2828C>A
 gnomAD v4
2g.148470459C>GCA348722037MBD5c.952C>G
c.2516C>G (p.Ala839Gly)
c.1735C>G
n.3745C>G
n.2828C>G
2g.148470459C>TCA348722038MBD5c.952C>T
c.2516C>T (p.Ala839Val)
c.1735C>T
n.3745C>T
n.2828C>T
2g.148470460A>CCA429447597MBD5c.953A>C
c.2517A>C (p.Ala839=)
c.1736A>C
n.3746A>C
n.2829A>C
2g.148470460A>GCA429447599MBD5c.953A>G
c.2517A>G (p.Ala839=)
c.1736A>G
n.3746A>G
n.2829A>G
2g.148470460A>TCA429447596MBD5c.953A>T
c.2517A>T (p.Ala839=)
c.1736A>T
n.3746A>T
n.2829A>T
2g.148470461G>ACA348722040MBD5c.954G>A
c.2518G>A (p.Gly840Ser)
c.1737G>A
n.3747G>A
n.2830G>A
2g.148470461G>CCA348722041MBD5c.954G>C
c.2518G>C (p.Gly840Arg)
c.1737G>C
n.3747G>C
n.2830G>C
2g.148470461G>TCA348722039MBD5c.954G>T
c.2518G>T (p.Gly840Cys)
c.1737G>T
n.3747G>T
n.2830G>T
2g.148470462G>ACA348722042MBD5c.954+1G>A
c.2518+1G>A (n.2518+1G>A)
c.1737+1G>A
c.2519G>A (p.Gly840Asp)
n.3747+1G>A
n.2830+1G>A
2g.148470462G>CCA348722043MBD5c.954+1G>C
c.2518+1G>C (n.2518+1G>C)
c.1737+1G>C
c.2519G>C (p.Gly840Ala)
n.3747+1G>C
n.2830+1G>C
2g.148470462G>TCA348722044MBD5c.954+1G>T
c.2518+1G>T (n.2518+1G>T)
c.1737+1G>T
c.2519G>T (p.Gly840Val)
n.3747+1G>T
n.2830+1G>T
2g.148470463T>ACA348722045MBD5c.954+2T>A
c.2518+2T>A (n.2518+2T>A)
c.1737+2T>A
c.2520T>A (p.Gly840=)
n.3747+2T>A
n.2830+2T>A
2g.148470463T>CCA348722046MBD5c.954+2T>C
c.2518+2T>C (n.2518+2T>C)
c.1737+2T>C
c.2520T>C (p.Gly840=)
n.3747+2T>C
n.2830+2T>C
2g.148470463T>GCA348722047MBD5c.954+2T>G
c.2518+2T>G (n.2518+2T>G)
c.1737+2T>G
c.2520T>G (p.Gly840=)
n.3747+2T>G
n.2830+2T>G
2g.148470464A>CCA348722050MBD5c.954+3A>C
c.2518+3A>C (n.2518+3A>C)
c.1737+3A>C
c.2521A>C (p.Met841Leu)
n.3747+3A>C
n.2830+3A>C
2g.148470464A>GCA348722049MBD5c.954+3A>G
c.2518+3A>G (n.2518+3A>G)
c.1737+3A>G
c.2521A>G (p.Met841Val)
n.3747+3A>G
n.2830+3A>G
2g.148470464A>TCA348722048MBD5c.954+3A>T
c.2518+3A>T (n.2518+3A>T)
c.1737+3A>T
c.2521A>T (p.Met841Leu)
n.3747+3A>T
n.2830+3A>T
2g.148470465T>ACA348722051MBD5c.954+4T>A
c.2518+4T>A (n.2518+4T>A)
c.1737+4T>A
c.2522T>A (p.Met841Lys)
n.3747+4T>A
n.2830+4T>A
 dbSNP
2g.148470465T>CCA348722052MBD5c.954+4T>C
c.2518+4T>C (n.2518+4T>C)
c.1737+4T>C
c.2522T>C (p.Met841Thr)
n.3747+4T>C
n.2830+4T>C
 ClinVar dbSNP gnomAD v4
2g.148470465T>GCA348722053MBD5c.954+4T>G
c.2518+4T>G (n.2518+4T>G)
c.1737+4T>G
c.2522T>G (p.Met841Arg)
n.3747+4T>G
n.2830+4T>G
2g.148470465T=CA1296774000MBD5c.954+4T=
c.2518+4T= (n.2518+4T=)
c.1737+4T=
c.2522T= (p.Met841=)
n.3747+4T=
n.2830+4T=
2g.148470466G>ACA348722054MBD5c.954+5G>A
c.2518+5G>A (n.2518+5G>A)
c.1737+5G>A
c.2523G>A (p.Met841Ile)
n.3747+5G>A
n.2830+5G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.148470466G>CCA348722055MBD5c.954+5G>C
c.2518+5G>C (n.2518+5G>C)
c.1737+5G>C
c.2523G>C (p.Met841Ile)
n.3747+5G>C
n.2830+5G>C
2g.148470466G=CA1296774001MBD5c.954+5G=
c.2518+5G= (n.2518+5G=)
c.1737+5G=
c.2523G= (p.Met841=)
n.3747+5G=
n.2830+5G=
2g.148470466G>TCA348722056MBD5c.954+5G>T
c.2518+5G>T (n.2518+5G>T)
c.1737+5G>T
c.2523G>T (p.Met841Ile)
n.3747+5G>T
n.2830+5G>T
 gnomAD v4
2g.148470467G>ACA1900150MBD5c.954+6G>A
c.2518+6G>A (n.2518+6G>A)
c.1737+6G>A
c.2524G>A (p.Val842Ile)
n.3747+6G>A
n.2830+6G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.148470467G>CCA348722058MBD5c.954+6G>C
c.2518+6G>C (n.2518+6G>C)
c.1737+6G>C
c.2524G>C (p.Val842Leu)
n.3747+6G>C
n.2830+6G>C
2g.148470467G=CA1296774002MBD5c.954+6G=
c.2518+6G= (n.2518+6G=)
c.1737+6G=
c.2524G= (p.Val842=)
n.3747+6G=
n.2830+6G=
2g.148470467G>TCA348722057MBD5c.954+6G>T
c.2518+6G>T (n.2518+6G>T)
c.1737+6G>T
c.2524G>T (p.Val842Phe)
n.3747+6G>T
n.2830+6G>T
 dbSNP gnomAD v2 gnomAD v4
2g.148470467_148470474delCA2752612984MBD5c.954+6_954+13del
c.2518+6_2518+13del (n.2518+6_2518+13del)
c.1737+6_1737+13del
c.2524_2531del (p.Val842ArgfsTer27)
n.3747+6_3747+13del
n.2830+6_2830+13del
2g.148470468T>ACA348722059MBD5c.954+7T>A
c.2518+7T>A (n.2518+7T>A)
c.1737+7T>A
c.2525T>A (p.Val842Asp)
n.3747+7T>A
n.2830+7T>A
 ClinVar dbSNP gnomAD v2
2g.148470468T>CCA348722060MBD5c.954+7T>C
c.2518+7T>C (n.2518+7T>C)
c.1737+7T>C
c.2525T>C (p.Val842Ala)
n.3747+7T>C
n.2830+7T>C
 gnomAD v4
2g.148470468T>GCA348722061MBD5c.954+7T>G
c.2518+7T>G (n.2518+7T>G)
c.1737+7T>G
c.2525T>G (p.Val842Gly)
n.3747+7T>G
n.2830+7T>G
2g.148470468T=CA1296774003MBD5c.954+7T=
c.2518+7T= (n.2518+7T=)
c.1737+7T=
c.2525T= (p.Val842=)
n.3747+7T=
n.2830+7T=
2g.148470468_148470474delCA2661396033MBD5c.954+7_954+13del
c.2518+7_2518+13del (n.2518+7_2518+13del)
c.1737+7_1737+13del
c.2525_2531del (p.Val842GlufsTer24)
n.3747+7_3747+13del
n.2830+7_2830+13del
 gnomAD v4
2g.148470470T>ACA348722062MBD5c.954+9T>A
c.2518+9T>A (n.2518+9T>A)
c.1737+9T>A
c.2527T>A (p.Leu843Ile)
n.3747+9T>A
n.2830+9T>A
2g.148470470T>GCA348722063MBD5c.954+9T>G
c.2518+9T>G (n.2518+9T>G)
c.1737+9T>G
c.2527T>G (p.Leu843Val)
n.3747+9T>G
n.2830+9T>G
2g.148470471T>ACA348722064MBD5c.954+10T>A
c.2518+10T>A (n.2518+10T>A)
c.1737+10T>A
c.2528T>A (p.Leu843Ter)
n.3747+10T>A
n.2830+10T>A
2g.148470471T>CCA348722065MBD5c.954+10T>C
c.2518+10T>C (n.2518+10T>C)
c.1737+10T>C
c.2528T>C (p.Leu843Ser)
n.3747+10T>C
n.2830+10T>C
 dbSNP gnomAD v4
2g.148470471T>GCA348722066MBD5c.954+10T>G
c.2518+10T>G (n.2518+10T>G)
c.1737+10T>G
c.2528T>G (p.Leu843Ter)
n.3747+10T>G
n.2830+10T>G
2g.148470472A>CCA348722067MBD5c.954+11A>C
c.2518+11A>C (n.2518+11A>C)
c.1737+11A>C
c.2529A>C (p.Leu843Phe)
n.3747+11A>C
n.2830+11A>C
2g.148470472A>TCA348722068MBD5c.954+11A>T
c.2518+11A>T (n.2518+11A>T)
c.1737+11A>T
c.2529A>T (p.Leu843Phe)
n.3747+11A>T
n.2830+11A>T
2g.148470473T>ACA348722069MBD5c.954+12T>A
c.2518+12T>A (n.2518+12T>A)
c.1737+12T>A
c.2530T>A (p.Leu844Ile)
n.3747+12T>A
n.2830+12T>A
2g.148470473T>CCA2577115425MBD5c.954+12T>C
c.2518+12T>C (n.2518+12T>C)
c.1737+12T>C
c.2530T>C (p.Leu844=)
n.3747+12T>C
n.2830+12T>C
 gnomAD v4
2g.148470473T>GCA348722070MBD5c.954+12T>G
c.2518+12T>G (n.2518+12T>G)
c.1737+12T>G
c.2530T>G (p.Leu844Val)
n.3747+12T>G
n.2830+12T>G
2g.148470474T>ACA348722073MBD5c.954+13T>A
c.2518+13T>A (n.2518+13T>A)
c.1737+13T>A
c.2531T>A (p.Leu844Ter)
n.3747+13T>A
n.2830+13T>A
2g.148470474T>CCA348722071MBD5c.954+13T>C
c.2518+13T>C (n.2518+13T>C)
c.1737+13T>C
c.2531T>C (p.Leu844Ser)
n.3747+13T>C
n.2830+13T>C
 gnomAD v4
2g.148470474T>GCA348722072MBD5c.954+13T>G
c.2518+13T>G (n.2518+13T>G)
c.1737+13T>G
c.2531T>G (p.Leu844Ter)
n.3747+13T>G
n.2830+13T>G
2g.148470475A>CCA348722074MBD5c.954+14A>C
c.2518+14A>C (n.2518+14A>C)
c.1737+14A>C
c.2532A>C (p.Leu844Phe)
n.3747+14A>C
n.2830+14A>C
2g.148470475A>GCA2661396036MBD5c.954+14A>G
c.2518+14A>G (n.2518+14A>G)
c.1737+14A>G
c.2532A>G (p.Leu844=)
n.3747+14A>G
n.2830+14A>G
 gnomAD v4
2g.148470475A>TCA348722075MBD5c.954+14A>T
c.2518+14A>T (n.2518+14A>T)
c.1737+14A>T
c.2532A>T (p.Leu844Phe)
n.3747+14A>T
n.2830+14A>T
2g.148470476G>ACA348722076MBD5c.954+15G>A
c.2518+15G>A (n.2518+15G>A)
c.1737+15G>A
c.2533G>A (p.Glu845Lys)
n.3747+15G>A
n.2830+15G>A
 gnomAD v4
2g.148470476G>CCA348722077MBD5c.954+15G>C
c.2518+15G>C (n.2518+15G>C)
c.1737+15G>C
c.2533G>C (p.Glu845Gln)
n.3747+15G>C
n.2830+15G>C
2g.148470476G>TCA348722078MBD5c.954+15G>T
c.2518+15G>T (n.2518+15G>T)
c.1737+15G>T
c.2533G>T (p.Glu845Ter)
n.3747+15G>T
n.2830+15G>T
2g.148470476_148470477delinsGACA1296774004MBD5c.954+15_954+16delinsGA
c.2518+15_2518+16delinsGA (n.2518+15_2518+16delinsGA)
c.1737+15_1737+16delinsGA
c.2533_2534delinsGA (p.Glu845=)
n.3747+15_3747+16delinsGA
n.2830+15_2830+16delinsGA
2g.148470477A=CA1296774006MBD5c.954+16A=
c.2518+16A= (n.2518+16A=)
c.1737+16A=
c.2534A= (p.Glu845=)
n.3747+16A=
n.2830+16A=
2g.148470477A>CCA348722080MBD5c.954+16A>C
c.2518+16A>C (n.2518+16A>C)
c.1737+16A>C
c.2534A>C (p.Glu845Ala)
n.3747+16A>C
n.2830+16A>C
2g.148470477A>GCA1900151MBD5c.954+16A>G
c.2518+16A>G (n.2518+16A>G)
c.1737+16A>G
c.2534A>G (p.Glu845Gly)
n.3747+16A>G
n.2830+16A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.148470477A>TCA348722079MBD5c.954+16A>T
c.2518+16A>T (n.2518+16A>T)
c.1737+16A>T
c.2534A>T (p.Glu845Val)
n.3747+16A>T
n.2830+16A>T
2g.148470482dupCA57579932MBD5c.954+21dup
c.2518+21dup (n.2518+21dup)
c.1737+21dup
c.2539dup (p.Ser847LysfsTer25)
n.3747+21dup
n.2830+21dup
 dbSNP gnomAD v2 gnomAD v4
2g.148470482delCA1296774005MBD5c.954+21del
c.2518+21del (n.2518+21del)
c.1737+21del
c.2539del (p.Ser847ValfsTer21)
n.3747+21del
n.2830+21del
 dbSNP gnomAD v4
2g.148470478A>CCA348722081MBD5c.954+17A>C
c.2518+17A>C (n.2518+17A>C)
c.1737+17A>C
c.2535A>C (p.Glu845Asp)
n.3747+17A>C
n.2830+17A>C
2g.148470478A>GCA2700710512MBD5c.954+17A>G
c.2518+17A>G (n.2518+17A>G)
c.1737+17A>G
c.2535A>G (p.Glu845=)
n.3747+17A>G
n.2830+17A>G
 dbSNP
2g.148470478A>TCA348722082MBD5c.954+17A>T
c.2518+17A>T (n.2518+17A>T)
c.1737+17A>T
c.2535A>T (p.Glu845Asp)
n.3747+17A>T
n.2830+17A>T
2g.148470479A>CCA348722083MBD5c.954+18A>C
c.2518+18A>C (n.2518+18A>C)
c.1737+18A>C
c.2536A>C (p.Lys846Gln)
n.3747+18A>C
n.2830+18A>C
2g.148470479A>GCA348722084MBD5c.954+18A>G
c.2518+18A>G (n.2518+18A>G)
c.1737+18A>G
c.2536A>G (p.Lys846Glu)
n.3747+18A>G
n.2830+18A>G
2g.148470479A>TCA348722085MBD5c.954+18A>T
c.2518+18A>T (n.2518+18A>T)
c.1737+18A>T
c.2536A>T (p.Lys846Ter)
n.3747+18A>T
n.2830+18A>T
2g.148470480A>CCA348722086MBD5c.954+19A>C
c.2518+19A>C (n.2518+19A>C)
c.1737+19A>C
c.2537A>C (p.Lys846Thr)
n.3747+19A>C
n.2830+19A>C
2g.148470480A>GCA348722088MBD5c.954+19A>G
c.2518+19A>G (n.2518+19A>G)
c.1737+19A>G
c.2537A>G (p.Lys846Arg)
n.3747+19A>G
n.2830+19A>G
 gnomAD v4
2g.148470480A>TCA348722087MBD5c.954+19A>T
c.2518+19A>T (n.2518+19A>T)
c.1737+19A>T
c.2537A>T (p.Lys846Ile)
n.3747+19A>T
n.2830+19A>T
2g.148470481A>CCA348722089MBD5c.954+20A>C
c.2518+20A>C (n.2518+20A>C)
c.1737+20A>C
c.2538A>C (p.Lys846Asn)
n.3747+20A>C
n.2830+20A>C
2g.148470481A>GCA2661396039MBD5c.954+20A>G
c.2518+20A>G (n.2518+20A>G)
c.1737+20A>G
c.2538A>G (p.Lys846=)
n.3747+20A>G
n.2830+20A>G
 gnomAD v4
2g.148470481A>TCA348722090MBD5c.954+20A>T
c.2518+20A>T (n.2518+20A>T)
c.1737+20A>T
c.2538A>T (p.Lys846Asn)
n.3747+20A>T
n.2830+20A>T
2g.148470482A=CA1296774007MBD5c.954+21A=
c.2518+21A= (n.2518+21A=)
c.1737+21A=
c.2539A= (p.Ser847=)
n.3747+21A=
n.2830+21A=
2g.148470482A>CCA348722091MBD5c.954+21A>C
c.2518+21A>C (n.2518+21A>C)
c.1737+21A>C
c.2539A>C (p.Ser847Arg)
n.3747+21A>C
n.2830+21A>C
2g.148470482A>GCA348722092MBD5c.954+21A>G
c.2518+21A>G (n.2518+21A>G)
c.1737+21A>G
c.2539A>G (p.Ser847Gly)
n.3747+21A>G
n.2830+21A>G
 dbSNP gnomAD v3 gnomAD v4
2g.148470482A>TCA348722093MBD5c.954+21A>T
c.2518+21A>T (n.2518+21A>T)
c.1737+21A>T
c.2539A>T (p.Ser847Cys)
n.3747+21A>T
n.2830+21A>T
2g.148470483G>ACA348722094MBD5c.954+22G>A
c.2518+22G>A (n.2518+22G>A)
c.1737+22G>A
c.2540G>A (p.Ser847Asn)
n.3747+22G>A
n.2830+22G>A
 gnomAD v4
2g.148470483G>CCA348722095MBD5c.954+22G>C
c.2518+22G>C (n.2518+22G>C)
c.1737+22G>C
c.2540G>C (p.Ser847Thr)
n.3747+22G>C
n.2830+22G>C
2g.148470483G>TCA348722096MBD5c.954+22G>T
c.2518+22G>T (n.2518+22G>T)
c.1737+22G>T
c.2540G>T (p.Ser847Ile)
n.3747+22G>T
n.2830+22G>T
 gnomAD v4
2g.148470484T>ACA348722097MBD5c.954+23T>A
c.2518+23T>A (n.2518+23T>A)
c.1737+23T>A
c.2541T>A (p.Ser847Arg)
n.3747+23T>A
n.2830+23T>A
 gnomAD v4
2g.148470484T>CCA1900152MBD5c.954+23T>C
c.2518+23T>C (n.2518+23T>C)
c.1737+23T>C
c.2541T>C (p.Ser847=)
n.3747+23T>C
n.2830+23T>C
 dbSNP ExAC gnomAD v2
2g.148470484T>GCA348722098MBD5c.954+23T>G
c.2518+23T>G (n.2518+23T>G)
c.1737+23T>G
c.2541T>G (p.Ser847Arg)
n.3747+23T>G
n.2830+23T>G
2g.148470484T=CA1296774008MBD5c.954+23T=
c.2518+23T= (n.2518+23T=)
c.1737+23T=
c.2541T= (p.Ser847=)
n.3747+23T=
n.2830+23T=
2g.148470485A=CA1296774009MBD5c.954+24A=
c.2518+24A= (n.2518+24A=)
c.1737+24A=
c.2542A= (p.Thr848=)
n.3747+24A=
n.2830+24A=
2g.148470485A>CCA348722099MBD5c.954+24A>C
c.2518+24A>C (n.2518+24A>C)
c.1737+24A>C
c.2542A>C (p.Thr848Pro)
n.3747+24A>C
n.2830+24A>C
2g.148470485A>GCA348722101MBD5c.954+24A>G
c.2518+24A>G (n.2518+24A>G)
c.1737+24A>G
c.2542A>G (p.Thr848Ala)
n.3747+24A>G
n.2830+24A>G
 dbSNP gnomAD v3 gnomAD v4
2g.148470485A>TCA348722100MBD5c.954+24A>T
c.2518+24A>T (n.2518+24A>T)
c.1737+24A>T
c.2542A>T (p.Thr848Ser)
n.3747+24A>T
n.2830+24A>T
2g.148470486C>ACA348722102MBD5c.954+25C>A
c.2518+25C>A (n.2518+25C>A)
c.1737+25C>A
c.2543C>A (p.Thr848Asn)
n.3747+25C>A
n.2830+25C>A
 gnomAD v4
2g.148470486C=CA1296774010MBD5c.954+25C=
c.2518+25C= (n.2518+25C=)
c.1737+25C=
c.2543C= (p.Thr848=)
n.3747+25C=
n.2830+25C=
2g.148470486C>GCA348722103MBD5c.954+25C>G
c.2518+25C>G (n.2518+25C>G)
c.1737+25C>G
c.2543C>G (p.Thr848Ser)
n.3747+25C>G
n.2830+25C>G
 gnomAD v4
2g.148470486C>TCA57579933MBD5c.954+25C>T
c.2518+25C>T (n.2518+25C>T)
c.1737+25C>T
c.2543C>T (p.Thr848Ile)
n.3747+25C>T
n.2830+25C>T
 dbSNP gnomAD v4
2g.148470488delCA2577115426MBD5c.954+27del
c.2518+27del (n.2518+27del)
c.1737+27del
c.2545del (p.Gln849LysfsTer19)
n.3747+27del
n.2830+27del
2g.148470487C>ACA1900153MBD5c.954+26C>A
c.2518+26C>A (n.2518+26C>A)
c.1737+26C>A
c.2544C>A (p.Thr848=)
n.3747+26C>A
n.2830+26C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.148470487C=CA1296774011MBD5c.954+26C=
c.2518+26C= (n.2518+26C=)
c.1737+26C=
c.2544C= (p.Thr848=)
n.3747+26C=
n.2830+26C=
2g.148470487C>TCA1296774012MBD5c.954+26C>T
c.2518+26C>T (n.2518+26C>T)
c.1737+26C>T
c.2544C>T (p.Thr848=)
n.3747+26C>T
n.2830+26C>T
 dbSNP gnomAD v4
2g.148470488C>ACA348722104MBD5c.954+27C>A
c.2518+27C>A (n.2518+27C>A)
c.1737+27C>A
c.2545C>A (p.Gln849Lys)
n.3747+27C>A
n.2830+27C>A
2g.148470488C>GCA348722105MBD5c.954+27C>G
c.2518+27C>G (n.2518+27C>G)
c.1737+27C>G
c.2545C>G (p.Gln849Glu)
n.3747+27C>G
n.2830+27C>G
 gnomAD v4
2g.148470488C>TCA348722106MBD5c.954+27C>T
c.2518+27C>T (n.2518+27C>T)
c.1737+27C>T
c.2545C>T (p.Gln849Ter)
n.3747+27C>T
n.2830+27C>T
2g.148470488_148470491delCA2661396043MBD5c.954+27_954+30del
c.2518+27_2518+30del (n.2518+27_2518+30del)
c.1737+27_1737+30del
c.2545_2548del (p.Gln849GlyfsTer18)
n.3747+27_3747+30del
n.2830+27_2830+30del
 gnomAD v4
2g.148470489A=CA1296774013MBD5c.954+28A=
c.2518+28A= (n.2518+28A=)
c.1737+28A=
c.2546A= (p.Gln849=)
n.3747+28A=
n.2830+28A=
2g.148470489A>CCA348722107MBD5c.954+28A>C
c.2518+28A>C (n.2518+28A>C)
c.1737+28A>C
c.2546A>C (p.Gln849Pro)
n.3747+28A>C
n.2830+28A>C
2g.148470489A>GCA348722108MBD5c.954+28A>G
c.2518+28A>G (n.2518+28A>G)
c.1737+28A>G
c.2546A>G (p.Gln849Arg)
n.3747+28A>G
n.2830+28A>G
 dbSNP gnomAD v2
2g.148470489A>TCA348722109MBD5c.954+28A>T
c.2518+28A>T (n.2518+28A>T)
c.1737+28A>T
c.2546A>T (p.Gln849Leu)
n.3747+28A>T
n.2830+28A>T
2g.148470490A>CCA348722110MBD5c.954+29A>C
c.2518+29A>C (n.2518+29A>C)
c.1737+29A>C
c.2547A>C (p.Gln849His)
n.3747+29A>C
n.2830+29A>C
2g.148470490A>TCA348722111MBD5c.954+29A>T
c.2518+29A>T (n.2518+29A>T)
c.1737+29A>T
c.2547A>T (p.Gln849His)
n.3747+29A>T
n.2830+29A>T
2g.148470491A=CA1296774014MBD5c.954+30A=
c.2518+30A= (n.2518+30A=)
c.1737+30A=
c.2548A= (p.Arg850=)
n.3747+30A=
n.2830+30A=
2g.148470491A>CCA1037654701MBD5c.954+30A>C
c.2518+30A>C (n.2518+30A>C)
c.1737+30A>C
c.2548A>C (p.Arg850=)
n.3747+30A>C
n.2830+30A>C
 dbSNP gnomAD v3 gnomAD v4
2g.148470491A>GCA348722112MBD5c.954+30A>G
c.2518+30A>G (n.2518+30A>G)
c.1737+30A>G
c.2548A>G (p.Arg850Gly)
n.3747+30A>G
n.2830+30A>G
 dbSNP gnomAD v3 gnomAD v4
2g.148470491A>TCA348722113MBD5c.954+30A>T
c.2518+30A>T (n.2518+30A>T)
c.1737+30A>T
c.2548A>T (p.Arg850Trp)
n.3747+30A>T
n.2830+30A>T
2g.148470492G>ACA348722116MBD5c.954+31G>A
c.2518+31G>A (n.2518+31G>A)
c.1737+31G>A
c.2549G>A (p.Arg850Lys)
n.3747+31G>A
n.2830+31G>A
 gnomAD v4
2g.148470492G>CCA348722114MBD5c.954+31G>C
c.2518+31G>C (n.2518+31G>C)
c.1737+31G>C
c.2549G>C (p.Arg850Thr)
n.3747+31G>C
n.2830+31G>C
2g.148470492G>TCA348722115MBD5c.954+31G>T
c.2518+31G>T (n.2518+31G>T)
c.1737+31G>T
c.2549G>T (p.Arg850Met)
n.3747+31G>T
n.2830+31G>T
 gnomAD v4
2g.148470493G>ACA758564824MBD5c.954+32G>A
c.2518+32G>A (n.2518+32G>A)
c.1737+32G>A
c.2550G>A (p.Arg850=)
n.3747+32G>A
n.2830+32G>A
 dbSNP gnomAD v4
2g.148470493G>CCA348722117MBD5c.954+32G>C
c.2518+32G>C (n.2518+32G>C)
c.1737+32G>C
c.2550G>C (p.Arg850Ser)
n.3747+32G>C
n.2830+32G>C
2g.148470493G=CA1296774015MBD5c.954+32G=
c.2518+32G= (n.2518+32G=)
c.1737+32G=
c.2550G= (p.Arg850=)
n.3747+32G=
n.2830+32G=
2g.148470493G>TCA348722118MBD5c.954+32G>T
c.2518+32G>T (n.2518+32G>T)
c.1737+32G>T
c.2550G>T (p.Arg850Ser)
n.3747+32G>T
n.2830+32G>T
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched