Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.26461690C>ACA2658232543OTOFc.5533+6G>T (n.5533+6G>T)
c.3232+6G>T (n.3232+6G>T)
c.3292+6G>T (n.3292+6G>T)
c.3463+6G>T (n.3463+6G>T)
c.5518+6G>T (n.5518+6G>T)
c.5578+6G>T (n.5578+6G>T)
c.5473+6G>T (n.5473+6G>T)
 gnomAD v4
2g.26461690C=CA1239825379OTOFc.5533+6G= (n.5533+6G=)
c.3232+6G= (n.3232+6G=)
c.3292+6G= (n.3292+6G=)
c.3463+6G= (n.3463+6G=)
c.5518+6G= (n.5518+6G=)
c.5578+6G= (n.5578+6G=)
c.5473+6G= (n.5473+6G=)
2g.26461690C>GCA1562799OTOFc.5533+6G>C (n.5533+6G>C)
c.3232+6G>C (n.3232+6G>C)
c.3292+6G>C (n.3292+6G>C)
c.3463+6G>C (n.3463+6G>C)
c.5518+6G>C (n.5518+6G>C)
c.5578+6G>C (n.5578+6G>C)
c.5473+6G>C (n.5473+6G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26461690C>TCA1239825380OTOFc.5533+6G>A (n.5533+6G>A)
c.3232+6G>A (n.3232+6G>A)
c.3292+6G>A (n.3292+6G>A)
c.3463+6G>A (n.3463+6G>A)
c.5518+6G>A (n.5518+6G>A)
c.5578+6G>A (n.5578+6G>A)
c.5473+6G>A (n.5473+6G>A)
 dbSNP
2g.26461691T>CCA1562800OTOFc.5533+5A>G (n.5533+5A>G)
c.3232+5A>G (n.3232+5A>G)
c.3292+5A>G (n.3292+5A>G)
c.3463+5A>G (n.3463+5A>G)
c.5518+5A>G (n.5518+5A>G)
c.5578+5A>G (n.5578+5A>G)
c.5473+5A>G (n.5473+5A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26461691T=CA1239825381OTOFc.5533+5A= (n.5533+5A=)
c.3232+5A= (n.3232+5A=)
c.3292+5A= (n.3292+5A=)
c.3463+5A= (n.3463+5A=)
c.5518+5A= (n.5518+5A=)
c.5578+5A= (n.5578+5A=)
c.5473+5A= (n.5473+5A=)
2g.26461693C>TCA2658232549OTOFc.5533+3G>A (n.5533+3G>A)
c.3232+3G>A (n.3232+3G>A)
c.3292+3G>A (n.3292+3G>A)
c.3463+3G>A (n.3463+3G>A)
c.5518+3G>A (n.5518+3G>A)
c.5578+3G>A (n.5578+3G>A)
c.5473+3G>A (n.5473+3G>A)
 gnomAD v4
2g.26461694A>CCA346131235OTOFc.5533+2T>G (n.5533+2T>G)
c.3232+2T>G (n.3232+2T>G)
c.3292+2T>G (n.3292+2T>G)
c.3463+2T>G (n.3463+2T>G)
c.5518+2T>G (n.5518+2T>G)
c.5578+2T>G (n.5578+2T>G)
c.5473+2T>G (n.5473+2T>G)
2g.26461694A>GCA346131236OTOFc.5533+2T>C (n.5533+2T>C)
c.3232+2T>C (n.3232+2T>C)
c.3292+2T>C (n.3292+2T>C)
c.3463+2T>C (n.3463+2T>C)
c.5518+2T>C (n.5518+2T>C)
c.5578+2T>C (n.5578+2T>C)
c.5473+2T>C (n.5473+2T>C)
2g.26461694A>TCA346131237OTOFc.5533+2T>A (n.5533+2T>A)
c.3232+2T>A (n.3232+2T>A)
c.3292+2T>A (n.3292+2T>A)
c.3463+2T>A (n.3463+2T>A)
c.5518+2T>A (n.5518+2T>A)
c.5578+2T>A (n.5578+2T>A)
c.5473+2T>A (n.5473+2T>A)
2g.26461695C>ACA346131238OTOFc.5533+1G>T (n.5533+1G>T)
c.3232+1G>T (n.3232+1G>T)
c.3292+1G>T (n.3292+1G>T)
c.3463+1G>T (n.3463+1G>T)
c.5518+1G>T (n.5518+1G>T)
c.5578+1G>T (n.5578+1G>T)
c.5473+1G>T (n.5473+1G>T)
2g.26461695C=CA1239825382OTOFc.5533+1G= (n.5533+1G=)
c.3232+1G= (n.3232+1G=)
c.3292+1G= (n.3292+1G=)
c.3463+1G= (n.3463+1G=)
c.5518+1G= (n.5518+1G=)
c.5578+1G= (n.5578+1G=)
c.5473+1G= (n.5473+1G=)
2g.26461695C>GCA346131239OTOFc.5533+1G>C (n.5533+1G>C)
c.3232+1G>C (n.3232+1G>C)
c.3292+1G>C (n.3292+1G>C)
c.3463+1G>C (n.3463+1G>C)
c.5518+1G>C (n.5518+1G>C)
c.5578+1G>C (n.5578+1G>C)
c.5473+1G>C (n.5473+1G>C)
2g.26461695C>TCA346131240OTOFc.5533+1G>A (n.5533+1G>A)
c.3232+1G>A (n.3232+1G>A)
c.3292+1G>A (n.3292+1G>A)
c.3463+1G>A (n.3463+1G>A)
c.5518+1G>A (n.5518+1G>A)
c.5578+1G>A (n.5578+1G>A)
c.5473+1G>A (n.5473+1G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.26461696C>ACA346131243OTOFc.5533G>T (p.Gly1845Trp)
c.3232G>T (p.Gly1078Trp)
c.3292G>T (p.Gly1098Trp)
c.3463G>T (p.Gly1155Trp)
c.5518G>T (p.Gly1840Trp)
c.5578G>T (p.Gly1860Trp)
c.5473G>T (p.Gly1825Trp)
2g.26461696C>GCA346131242OTOFc.5533G>C (p.Gly1845Arg)
c.3232G>C (p.Gly1078Arg)
c.3292G>C (p.Gly1098Arg)
c.3463G>C (p.Gly1155Arg)
c.5518G>C (p.Gly1840Arg)
c.5578G>C (p.Gly1860Arg)
c.5473G>C (p.Gly1825Arg)
2g.26461696C>TCA346131241OTOFc.5533G>A (p.Gly1845Arg)
c.3232G>A (p.Gly1078Arg)
c.3292G>A (p.Gly1098Arg)
c.3463G>A (p.Gly1155Arg)
c.5518G>A (p.Gly1840Arg)
c.5578G>A (p.Gly1860Arg)
c.5473G>A (p.Gly1825Arg)
2g.26461697C>ACA425359119OTOFc.5532G>T (p.Leu1844=)
c.3231G>T (p.Leu1077=)
c.3291G>T (p.Leu1097=)
c.3462G>T (p.Leu1154=)
c.5517G>T (p.Leu1839=)
c.5577G>T (p.Leu1859=)
c.5472G>T (p.Leu1824=)
2g.26461697C>GCA425359120OTOFc.5532G>C (p.Leu1844=)
c.3231G>C (p.Leu1077=)
c.3291G>C (p.Leu1097=)
c.3462G>C (p.Leu1154=)
c.5517G>C (p.Leu1839=)
c.5577G>C (p.Leu1859=)
c.5472G>C (p.Leu1824=)
2g.26461697C>TCA425359121OTOFc.5532G>A (p.Leu1844=)
c.3231G>A (p.Leu1077=)
c.3291G>A (p.Leu1097=)
c.3462G>A (p.Leu1154=)
c.5517G>A (p.Leu1839=)
c.5577G>A (p.Leu1859=)
c.5472G>A (p.Leu1824=)
2g.26461697_26461698delinsCACA1239825383OTOFc.5531_5532delinsTG (p.Leu1844=)
c.3230_3231delinsTG (p.Leu1077=)
c.3290_3291delinsTG (p.Leu1097=)
c.3461_3462delinsTG (p.Leu1154=)
c.5516_5517delinsTG (p.Leu1839=)
c.5576_5577delinsTG (p.Leu1859=)
c.5471_5472delinsTG (p.Leu1824=)
2g.26461698delCA767290280OTOFc.5531del (p.Leu1844ArgfsTer8)
c.3230del (p.Leu1077ArgfsTer8)
c.3290del (p.Leu1097ArgfsTer8)
c.3461del (p.Leu1154ArgfsTer8)
c.5516del (p.Leu1839ArgfsTer8)
c.5576del (p.Leu1859ArgfsTer8)
c.5471del (p.Leu1824ArgfsTer8)
 ClinVar dbSNP
2g.26461698A>CCA346131244OTOFc.5531T>G (p.Leu1844Arg)
c.3230T>G (p.Leu1077Arg)
c.3290T>G (p.Leu1097Arg)
c.3461T>G (p.Leu1154Arg)
c.5516T>G (p.Leu1839Arg)
c.5576T>G (p.Leu1859Arg)
c.5471T>G (p.Leu1824Arg)
 gnomAD v4
2g.26461698A>GCA346131245OTOFc.5531T>C (p.Leu1844Pro)
c.3230T>C (p.Leu1077Pro)
c.3290T>C (p.Leu1097Pro)
c.3461T>C (p.Leu1154Pro)
c.5516T>C (p.Leu1839Pro)
c.5576T>C (p.Leu1859Pro)
c.5471T>C (p.Leu1824Pro)
2g.26461698A>TCA346131246OTOFc.5531T>A (p.Leu1844Gln)
c.3230T>A (p.Leu1077Gln)
c.3290T>A (p.Leu1097Gln)
c.3461T>A (p.Leu1154Gln)
c.5516T>A (p.Leu1839Gln)
c.5576T>A (p.Leu1859Gln)
c.5471T>A (p.Leu1824Gln)
2g.26461699G>ACA44409002OTOFc.5530C>T (p.Leu1844=)
c.3229C>T (p.Leu1077=)
c.3289C>T (p.Leu1097=)
c.3460C>T (p.Leu1154=)
c.5515C>T (p.Leu1839=)
c.5575C>T (p.Leu1859=)
c.5470C>T (p.Leu1824=)
 dbSNP
2g.26461699G>CCA346131247OTOFc.5530C>G (p.Leu1844Val)
c.3229C>G (p.Leu1077Val)
c.3289C>G (p.Leu1097Val)
c.3460C>G (p.Leu1154Val)
c.5515C>G (p.Leu1839Val)
c.5575C>G (p.Leu1859Val)
c.5470C>G (p.Leu1824Val)
2g.26461699G=CA1239825384OTOFc.5530C= (p.Leu1844=)
c.3229C= (p.Leu1077=)
c.3289C= (p.Leu1097=)
c.3460C= (p.Leu1154=)
c.5515C= (p.Leu1839=)
c.5575C= (p.Leu1859=)
c.5470C= (p.Leu1824=)
2g.26461699G>TCA346131248OTOFc.5530C>A (p.Leu1844Met)
c.3229C>A (p.Leu1077Met)
c.3289C>A (p.Leu1097Met)
c.3460C>A (p.Leu1154Met)
c.5515C>A (p.Leu1839Met)
c.5575C>A (p.Leu1859Met)
c.5470C>A (p.Leu1824Met)
2g.26461700G>ACA425359143OTOFc.5529C>T (p.Phe1843=)
c.3228C>T (p.Phe1076=)
c.3288C>T (p.Phe1096=)
c.3459C>T (p.Phe1153=)
c.5514C>T (p.Phe1838=)
c.5574C>T (p.Phe1858=)
c.5469C>T (p.Phe1823=)
2g.26461700G>CCA346131249OTOFc.5529C>G (p.Phe1843Leu)
c.3228C>G (p.Phe1076Leu)
c.3288C>G (p.Phe1096Leu)
c.3459C>G (p.Phe1153Leu)
c.5514C>G (p.Phe1838Leu)
c.5574C>G (p.Phe1858Leu)
c.5469C>G (p.Phe1823Leu)
2g.26461700G>TCA346131250OTOFc.5529C>A (p.Phe1843Leu)
c.3228C>A (p.Phe1076Leu)
c.3288C>A (p.Phe1096Leu)
c.3459C>A (p.Phe1153Leu)
c.5514C>A (p.Phe1838Leu)
c.5574C>A (p.Phe1858Leu)
c.5469C>A (p.Phe1823Leu)
2g.26461701A>CCA346131251OTOFc.5528T>G (p.Phe1843Cys)
c.3227T>G (p.Phe1076Cys)
c.3287T>G (p.Phe1096Cys)
c.3458T>G (p.Phe1153Cys)
c.5513T>G (p.Phe1838Cys)
c.5573T>G (p.Phe1858Cys)
c.5468T>G (p.Phe1823Cys)
2g.26461701A>GCA346131252OTOFc.5528T>C (p.Phe1843Ser)
c.3227T>C (p.Phe1076Ser)
c.3287T>C (p.Phe1096Ser)
c.3458T>C (p.Phe1153Ser)
c.5513T>C (p.Phe1838Ser)
c.5573T>C (p.Phe1858Ser)
c.5468T>C (p.Phe1823Ser)
2g.26461701A>TCA346131253OTOFc.5528T>A (p.Phe1843Tyr)
c.3227T>A (p.Phe1076Tyr)
c.3287T>A (p.Phe1096Tyr)
c.3458T>A (p.Phe1153Tyr)
c.5513T>A (p.Phe1838Tyr)
c.5573T>A (p.Phe1858Tyr)
c.5468T>A (p.Phe1823Tyr)
2g.26461702A>CCA346131254OTOFc.5527T>G (p.Phe1843Val)
c.3226T>G (p.Phe1076Val)
c.3286T>G (p.Phe1096Val)
c.3457T>G (p.Phe1153Val)
c.5512T>G (p.Phe1838Val)
c.5572T>G (p.Phe1858Val)
c.5467T>G (p.Phe1823Val)
2g.26461702A>GCA346131255OTOFc.5527T>C (p.Phe1843Leu)
c.3226T>C (p.Phe1076Leu)
c.3286T>C (p.Phe1096Leu)
c.3457T>C (p.Phe1153Leu)
c.5512T>C (p.Phe1838Leu)
c.5572T>C (p.Phe1858Leu)
c.5467T>C (p.Phe1823Leu)
2g.26461702A>TCA346131256OTOFc.5527T>A (p.Phe1843Ile)
c.3226T>A (p.Phe1076Ile)
c.3286T>A (p.Phe1096Ile)
c.3457T>A (p.Phe1153Ile)
c.5512T>A (p.Phe1838Ile)
c.5572T>A (p.Phe1858Ile)
c.5467T>A (p.Phe1823Ile)
2g.26461702_26461705delinsAGTCCA1239825385OTOFc.5524_5527delinsGACT (p.Asp1842=)
c.3223_3226delinsGACT (p.Asp1075=)
c.3283_3286delinsGACT (p.Asp1095=)
c.3454_3457delinsGACT (p.Asp1152=)
c.5509_5512delinsGACT (p.Asp1837=)
c.5569_5572delinsGACT (p.Asp1857=)
c.5464_5467delinsGACT (p.Asp1822=)
2g.26461703G>ACA425359158OTOFc.5526C>T (p.Asp1842=)
c.3225C>T (p.Asp1075=)
c.3285C>T (p.Asp1095=)
c.3456C>T (p.Asp1152=)
c.5511C>T (p.Asp1837=)
c.5571C>T (p.Asp1857=)
c.5466C>T (p.Asp1822=)
2g.26461703G>CCA346131258OTOFc.5526C>G (p.Asp1842Glu)
c.3225C>G (p.Asp1075Glu)
c.3285C>G (p.Asp1095Glu)
c.3456C>G (p.Asp1152Glu)
c.5511C>G (p.Asp1837Glu)
c.5571C>G (p.Asp1857Glu)
c.5466C>G (p.Asp1822Glu)
2g.26461703G>TCA346131257OTOFc.5526C>A (p.Asp1842Glu)
c.3225C>A (p.Asp1075Glu)
c.3285C>A (p.Asp1095Glu)
c.3456C>A (p.Asp1152Glu)
c.5511C>A (p.Asp1837Glu)
c.5571C>A (p.Asp1857Glu)
c.5466C>A (p.Asp1822Glu)
2g.26461706_26461708delCA1239825386OTOFc.5524_5526del (p.Asp1842del)
c.3223_3225del (p.Asp1075del)
c.3283_3285del (p.Asp1095del)
c.3454_3456del (p.Asp1152del)
c.5509_5511del (p.Asp1837del)
c.5569_5571del (p.Asp1857del)
c.5464_5466del (p.Asp1822del)
 dbSNP gnomAD v4
2g.26461704T>ACA346131259OTOFc.5525A>T (p.Asp1842Val)
c.3224A>T (p.Asp1075Val)
c.3284A>T (p.Asp1095Val)
c.3455A>T (p.Asp1152Val)
c.5510A>T (p.Asp1837Val)
c.5570A>T (p.Asp1857Val)
c.5465A>T (p.Asp1822Val)
2g.26461704T>CCA346131260OTOFc.5525A>G (p.Asp1842Gly)
c.3224A>G (p.Asp1075Gly)
c.3284A>G (p.Asp1095Gly)
c.3455A>G (p.Asp1152Gly)
c.5510A>G (p.Asp1837Gly)
c.5570A>G (p.Asp1857Gly)
c.5465A>G (p.Asp1822Gly)
2g.26461704T>GCA346131261OTOFc.5525A>C (p.Asp1842Ala)
c.3224A>C (p.Asp1075Ala)
c.3284A>C (p.Asp1095Ala)
c.3455A>C (p.Asp1152Ala)
c.5510A>C (p.Asp1837Ala)
c.5570A>C (p.Asp1857Ala)
c.5465A>C (p.Asp1822Ala)
2g.26461705C>ACA346131262OTOFc.5524G>T (p.Asp1842Tyr)
c.3223G>T (p.Asp1075Tyr)
c.3283G>T (p.Asp1095Tyr)
c.3454G>T (p.Asp1152Tyr)
c.5509G>T (p.Asp1837Tyr)
c.5569G>T (p.Asp1857Tyr)
c.5464G>T (p.Asp1822Tyr)
2g.26461705C=CA1239825387OTOFc.5524G= (p.Asp1842=)
c.3223G= (p.Asp1075=)
c.3283G= (p.Asp1095=)
c.3454G= (p.Asp1152=)
c.5509G= (p.Asp1837=)
c.5569G= (p.Asp1857=)
c.5464G= (p.Asp1822=)
2g.26461705C>GCA346131263OTOFc.5524G>C (p.Asp1842His)
c.3223G>C (p.Asp1075His)
c.3283G>C (p.Asp1095His)
c.3454G>C (p.Asp1152His)
c.5509G>C (p.Asp1837His)
c.5569G>C (p.Asp1857His)
c.5464G>C (p.Asp1822His)
2g.26461705C>TCA346131264OTOFc.5524G>A (p.Asp1842Asn)
c.3223G>A (p.Asp1075Asn)
c.3283G>A (p.Asp1095Asn)
c.3454G>A (p.Asp1152Asn)
c.5509G>A (p.Asp1837Asn)
c.5569G>A (p.Asp1857Asn)
c.5464G>A (p.Asp1822Asn)
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched