Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.26463969C>ACA346133671OTOFc.5098G>T (p.Glu1700Ter)
c.2797G>T (p.Glu933Ter)
c.2857G>T (p.Glu953Ter)
c.3028G>T (p.Glu1010Ter)
n.847G>T
c.5083G>T (p.Glu1695Ter)
c.5143G>T (p.Glu1715Ter)
c.5038G>T (p.Glu1680Ter)
gnomAD v4
2g.26463969C=CA1239814497OTOFc.5098G= (p.Glu1700=)
c.2797G= (p.Glu933=)
c.2857G= (p.Glu953=)
c.3028G= (p.Glu1010=)
n.847G=
c.5083G= (p.Glu1695=)
c.5143G= (p.Glu1715=)
c.5038G= (p.Glu1680=)
2g.26463969C>GCA345132OTOFc.5098G>C (p.Glu1700Gln)
c.2797G>C (p.Glu933Gln)
c.2857G>C (p.Glu953Gln)
c.3028G>C (p.Glu1010Gln)
n.847G>C
c.5083G>C (p.Glu1695Gln)
c.5143G>C (p.Glu1715Gln)
c.5038G>C (p.Glu1680Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26463969C>TCA346133674OTOFc.5098G>A (p.Glu1700Lys)
c.2797G>A (p.Glu933Lys)
c.2857G>A (p.Glu953Lys)
c.3028G>A (p.Glu1010Lys)
n.847G>A
c.5083G>A (p.Glu1695Lys)
c.5143G>A (p.Glu1715Lys)
c.5038G>A (p.Glu1680Lys)
dbSNP gnomAD v3 gnomAD v4
2g.26463970G>ACA142923OTOFc.5097C>T (p.Ile1699=)
c.2796C>T (p.Ile932=)
c.2856C>T (p.Ile952=)
c.3027C>T (p.Ile1009=)
n.846C>T
c.5082C>T (p.Ile1694=)
c.5142C>T (p.Ile1714=)
c.5037C>T (p.Ile1679=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
2g.26463970G>CCA10614853OTOFc.5097C>G (p.Ile1699Met)
c.2796C>G (p.Ile932Met)
c.2856C>G (p.Ile952Met)
c.3027C>G (p.Ile1009Met)
n.846C>G
c.5082C>G (p.Ile1694Met)
c.5142C>G (p.Ile1714Met)
c.5037C>G (p.Ile1679Met)
ClinVar dbSNP
2g.26463970G=CA1239814504OTOFc.5097C= (p.Ile1699=)
c.2796C= (p.Ile932=)
c.2856C= (p.Ile952=)
c.3027C= (p.Ile1009=)
n.846C=
c.5082C= (p.Ile1694=)
c.5142C= (p.Ile1714=)
c.5037C= (p.Ile1679=)
2g.26463970G>TCA425207059OTOFc.5097C>A (p.Ile1699=)
c.2796C>A (p.Ile932=)
c.2856C>A (p.Ile952=)
c.3027C>A (p.Ile1009=)
n.846C>A
c.5082C>A (p.Ile1694=)
c.5142C>A (p.Ile1714=)
c.5037C>A (p.Ile1679=)
2g.26463971A=CA1239814509OTOFc.5096T= (p.Ile1699=)
c.2795T= (p.Ile932=)
c.2855T= (p.Ile952=)
c.3026T= (p.Ile1009=)
n.845T=
c.5081T= (p.Ile1694=)
c.5141T= (p.Ile1714=)
c.5036T= (p.Ile1679=)
2g.26463971A>CCA346133677OTOFc.5096T>G (p.Ile1699Ser)
c.2795T>G (p.Ile932Ser)
c.2855T>G (p.Ile952Ser)
c.3026T>G (p.Ile1009Ser)
n.845T>G
c.5081T>G (p.Ile1694Ser)
c.5141T>G (p.Ile1714Ser)
c.5036T>G (p.Ile1679Ser)
2g.26463971A>GCA1562942OTOFc.5096T>C (p.Ile1699Thr)
c.2795T>C (p.Ile932Thr)
c.2855T>C (p.Ile952Thr)
c.3026T>C (p.Ile1009Thr)
n.845T>C
c.5081T>C (p.Ile1694Thr)
c.5141T>C (p.Ile1714Thr)
c.5036T>C (p.Ile1679Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.26463971A>TCA346133679OTOFc.5096T>A (p.Ile1699Asn)
c.2795T>A (p.Ile932Asn)
c.2855T>A (p.Ile952Asn)
c.3026T>A (p.Ile1009Asn)
n.845T>A
c.5081T>A (p.Ile1694Asn)
c.5141T>A (p.Ile1714Asn)
c.5036T>A (p.Ile1679Asn)
gnomAD v4
2g.26463972T>ACA346133684OTOFc.5095A>T (p.Ile1699Phe)
c.2794A>T (p.Ile932Phe)
c.2854A>T (p.Ile952Phe)
c.3025A>T (p.Ile1009Phe)
n.844A>T
c.5080A>T (p.Ile1694Phe)
c.5140A>T (p.Ile1714Phe)
c.5035A>T (p.Ile1679Phe)
2g.26463972T>CCA346133686OTOFc.5095A>G (p.Ile1699Val)
c.2794A>G (p.Ile932Val)
c.2854A>G (p.Ile952Val)
c.3025A>G (p.Ile1009Val)
n.844A>G
c.5080A>G (p.Ile1694Val)
c.5140A>G (p.Ile1714Val)
c.5035A>G (p.Ile1679Val)
dbSNP gnomAD v3 gnomAD v4
2g.26463972T>GCA346133696OTOFc.5095A>C (p.Ile1699Leu)
c.2794A>C (p.Ile932Leu)
c.2854A>C (p.Ile952Leu)
c.3025A>C (p.Ile1009Leu)
n.844A>C
c.5080A>C (p.Ile1694Leu)
c.5140A>C (p.Ile1714Leu)
c.5035A>C (p.Ile1679Leu)
dbSNP gnomAD v3 gnomAD v4
2g.26463972T=CA1239814512OTOFc.5095A= (p.Ile1699=)
c.2794A= (p.Ile932=)
c.2854A= (p.Ile952=)
c.3025A= (p.Ile1009=)
n.844A=
c.5080A= (p.Ile1694=)
c.5140A= (p.Ile1714=)
c.5035A= (p.Ile1679=)
2g.26463973G>ACA425207062OTOFc.5094C>T (p.Gly1698=)
c.2793C>T (p.Gly931=)
c.2853C>T (p.Gly951=)
c.3024C>T (p.Gly1008=)
n.843C>T
c.5079C>T (p.Gly1693=)
c.5139C>T (p.Gly1713=)
c.5034C>T (p.Gly1678=)
2g.26463973G>CCA425207061OTOFc.5094C>G (p.Gly1698=)
c.2793C>G (p.Gly931=)
c.2853C>G (p.Gly951=)
c.3024C>G (p.Gly1008=)
n.843C>G
c.5079C>G (p.Gly1693=)
c.5139C>G (p.Gly1713=)
c.5034C>G (p.Gly1678=)
2g.26463973G>TCA425207060OTOFc.5094C>A (p.Gly1698=)
c.2793C>A (p.Gly931=)
c.2853C>A (p.Gly951=)
c.3024C>A (p.Gly1008=)
n.843C>A
c.5079C>A (p.Gly1693=)
c.5139C>A (p.Gly1713=)
c.5034C>A (p.Gly1678=)
2g.26463973_26463974delinsGCCA1239814516OTOFc.5093_5094delinsGC (p.Gly1698=)
c.2792_2793delinsGC (p.Gly931=)
c.2852_2853delinsGC (p.Gly951=)
c.3023_3024delinsGC (p.Gly1008=)
n.842_843delinsGC
c.5078_5079delinsGC (p.Gly1693=)
c.5138_5139delinsGC (p.Gly1713=)
c.5033_5034delinsGC (p.Gly1678=)
2g.26463974C>ACA1562943OTOFc.5093G>T (p.Gly1698Val)
c.2792G>T (p.Gly931Val)
c.2852G>T (p.Gly951Val)
c.3023G>T (p.Gly1008Val)
n.842G>T
c.5078G>T (p.Gly1693Val)
c.5138G>T (p.Gly1713Val)
c.5033G>T (p.Gly1678Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26463974C=CA1239814523OTOFc.5093G= (p.Gly1698=)
c.2792G= (p.Gly931=)
c.2852G= (p.Gly951=)
c.3023G= (p.Gly1008=)
n.842G=
c.5078G= (p.Gly1693=)
c.5138G= (p.Gly1713=)
c.5033G= (p.Gly1678=)
2g.26463974C>GCA346133698OTOFc.5093G>C (p.Gly1698Ala)
c.2792G>C (p.Gly931Ala)
c.2852G>C (p.Gly951Ala)
c.3023G>C (p.Gly1008Ala)
n.842G>C
c.5078G>C (p.Gly1693Ala)
c.5138G>C (p.Gly1713Ala)
c.5033G>C (p.Gly1678Ala)
2g.26463974C>TCA346133700OTOFc.5093G>A (p.Gly1698Asp)
c.2792G>A (p.Gly931Asp)
c.2852G>A (p.Gly951Asp)
c.3023G>A (p.Gly1008Asp)
n.842G>A
c.5078G>A (p.Gly1693Asp)
c.5138G>A (p.Gly1713Asp)
c.5033G>A (p.Gly1678Asp)
gnomAD v4
2g.26463976delCA1239814521OTOFc.5093del (p.Gly1698AlafsTer?)
c.2792del (p.Gly931AlafsTer?)
c.2852del (p.Gly951AlafsTer?)
c.3023del (p.Gly1008AlafsTer?)
n.842del
c.5078del (p.Gly1693AlafsTer?)
c.5138del (p.Gly1713AlafsTer?)
c.5033del (p.Gly1678AlafsTer?)
gnomAD v4
2g.26463975C>ACA346133703OTOFc.5092G>T (p.Gly1698Cys)
c.2791G>T (p.Gly931Cys)
c.2851G>T (p.Gly951Cys)
c.3022G>T (p.Gly1008Cys)
n.841G>T
c.5077G>T (p.Gly1693Cys)
c.5137G>T (p.Gly1713Cys)
c.5032G>T (p.Gly1678Cys)
2g.26463975C>GCA346133706OTOFc.5092G>C (p.Gly1698Arg)
c.2791G>C (p.Gly931Arg)
c.2851G>C (p.Gly951Arg)
c.3022G>C (p.Gly1008Arg)
n.841G>C
c.5077G>C (p.Gly1693Arg)
c.5137G>C (p.Gly1713Arg)
c.5032G>C (p.Gly1678Arg)
2g.26463975C>TCA346133708OTOFc.5092G>A (p.Gly1698Ser)
c.2791G>A (p.Gly931Ser)
c.2851G>A (p.Gly951Ser)
c.3022G>A (p.Gly1008Ser)
n.841G>A
c.5077G>A (p.Gly1693Ser)
c.5137G>A (p.Gly1713Ser)
c.5032G>A (p.Gly1678Ser)
2g.26463976C>ACA425207066OTOFc.5091G>T (p.Pro1697=)
c.2790G>T (p.Pro930=)
c.2850G>T (p.Pro950=)
c.3021G>T (p.Pro1007=)
n.840G>T
c.5076G>T (p.Pro1692=)
c.5136G>T (p.Pro1712=)
c.5031G>T (p.Pro1677=)
2g.26463976C=CA1239814527OTOFc.5091G= (p.Pro1697=)
c.2790G= (p.Pro930=)
c.2850G= (p.Pro950=)
c.3021G= (p.Pro1007=)
n.840G=
c.5076G= (p.Pro1692=)
c.5136G= (p.Pro1712=)
c.5031G= (p.Pro1677=)
2g.26463976C>GCA425207067OTOFc.5091G>C (p.Pro1697=)
c.2790G>C (p.Pro930=)
c.2850G>C (p.Pro950=)
c.3021G>C (p.Pro1007=)
n.840G>C
c.5076G>C (p.Pro1692=)
c.5136G>C (p.Pro1712=)
c.5031G>C (p.Pro1677=)
2g.26463976C>TCA142921OTOFc.5091G>A (p.Pro1697=)
c.2790G>A (p.Pro930=)
c.2850G>A (p.Pro950=)
c.3021G>A (p.Pro1007=)
n.840G>A
c.5076G>A (p.Pro1692=)
c.5136G>A (p.Pro1712=)
c.5031G>A (p.Pro1677=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26463977G>ACA346133713OTOFc.5090C>T (p.Pro1697Leu)
c.2789C>T (p.Pro930Leu)
c.2849C>T (p.Pro950Leu)
c.3020C>T (p.Pro1007Leu)
n.839C>T
c.5075C>T (p.Pro1692Leu)
c.5135C>T (p.Pro1712Leu)
c.5030C>T (p.Pro1677Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26463977G>CCA346133716OTOFc.5090C>G (p.Pro1697Arg)
c.2789C>G (p.Pro930Arg)
c.2849C>G (p.Pro950Arg)
c.3020C>G (p.Pro1007Arg)
n.839C>G
c.5075C>G (p.Pro1692Arg)
c.5135C>G (p.Pro1712Arg)
c.5030C>G (p.Pro1677Arg)
2g.26463977G=CA1239814529OTOFc.5090C= (p.Pro1697=)
c.2789C= (p.Pro930=)
c.2849C= (p.Pro950=)
c.3020C= (p.Pro1007=)
n.839C=
c.5075C= (p.Pro1692=)
c.5135C= (p.Pro1712=)
c.5030C= (p.Pro1677=)
2g.26463977G>TCA346133719OTOFc.5090C>A (p.Pro1697Gln)
c.2789C>A (p.Pro930Gln)
c.2849C>A (p.Pro950Gln)
c.3020C>A (p.Pro1007Gln)
n.839C>A
c.5075C>A (p.Pro1692Gln)
c.5135C>A (p.Pro1712Gln)
c.5030C>A (p.Pro1677Gln)
2g.26463978G>ACA346133721OTOFc.5089C>T (p.Pro1697Ser)
c.2788C>T (p.Pro930Ser)
c.2848C>T (p.Pro950Ser)
c.3019C>T (p.Pro1007Ser)
n.838C>T
c.5074C>T (p.Pro1692Ser)
c.5134C>T (p.Pro1712Ser)
c.5029C>T (p.Pro1677Ser)
dbSNP gnomAD v2
2g.26463978G>CCA346133724OTOFc.5089C>G (p.Pro1697Ala)
c.2788C>G (p.Pro930Ala)
c.2848C>G (p.Pro950Ala)
c.3019C>G (p.Pro1007Ala)
n.838C>G
c.5074C>G (p.Pro1692Ala)
c.5134C>G (p.Pro1712Ala)
c.5029C>G (p.Pro1677Ala)
2g.26463978G=CA1239814532OTOFc.5089C= (p.Pro1697=)
c.2788C= (p.Pro930=)
c.2848C= (p.Pro950=)
c.3019C= (p.Pro1007=)
n.838C=
c.5074C= (p.Pro1692=)
c.5134C= (p.Pro1712=)
c.5029C= (p.Pro1677=)
2g.26463978G>TCA44410793OTOFc.5089C>A (p.Pro1697Thr)
c.2788C>A (p.Pro930Thr)
c.2848C>A (p.Pro950Thr)
c.3019C>A (p.Pro1007Thr)
n.838C>A
c.5074C>A (p.Pro1692Thr)
c.5134C>A (p.Pro1712Thr)
c.5029C>A (p.Pro1677Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26463979C>ACA346133727OTOFc.5088G>T (p.Lys1696Asn)
c.2787G>T (p.Lys929Asn)
c.2847G>T (p.Lys949Asn)
c.3018G>T (p.Lys1006Asn)
n.837G>T
c.5073G>T (p.Lys1691Asn)
c.5133G>T (p.Lys1711Asn)
c.5028G>T (p.Lys1676Asn)
2g.26463979C>GCA346133730OTOFc.5088G>C (p.Lys1696Asn)
c.2787G>C (p.Lys929Asn)
c.2847G>C (p.Lys949Asn)
c.3018G>C (p.Lys1006Asn)
n.837G>C
c.5073G>C (p.Lys1691Asn)
c.5133G>C (p.Lys1711Asn)
c.5028G>C (p.Lys1676Asn)
2g.26463979C>TCA425207071OTOFc.5088G>A (p.Lys1696=)
c.2787G>A (p.Lys929=)
c.2847G>A (p.Lys949=)
c.3018G>A (p.Lys1006=)
n.837G>A
c.5073G>A (p.Lys1691=)
c.5133G>A (p.Lys1711=)
c.5028G>A (p.Lys1676=)
2g.26463980T>ACA346133733OTOFc.5087A>T (p.Lys1696Met)
c.2786A>T (p.Lys929Met)
c.2846A>T (p.Lys949Met)
c.3017A>T (p.Lys1006Met)
n.836A>T
c.5072A>T (p.Lys1691Met)
c.5132A>T (p.Lys1711Met)
c.5027A>T (p.Lys1676Met)
2g.26463980T>CCA346133735OTOFc.5087A>G (p.Lys1696Arg)
c.2786A>G (p.Lys929Arg)
c.2846A>G (p.Lys949Arg)
c.3017A>G (p.Lys1006Arg)
n.836A>G
c.5072A>G (p.Lys1691Arg)
c.5132A>G (p.Lys1711Arg)
c.5027A>G (p.Lys1676Arg)
2g.26463980T>GCA346133736OTOFc.5087A>C (p.Lys1696Thr)
c.2786A>C (p.Lys929Thr)
c.2846A>C (p.Lys949Thr)
c.3017A>C (p.Lys1006Thr)
n.836A>C
c.5072A>C (p.Lys1691Thr)
c.5132A>C (p.Lys1711Thr)
c.5027A>C (p.Lys1676Thr)
2g.26463981T>ACA346133738OTOFc.5086A>T (p.Lys1696Ter)
c.2785A>T (p.Lys929Ter)
c.2845A>T (p.Lys949Ter)
c.3016A>T (p.Lys1006Ter)
n.835A>T
c.5071A>T (p.Lys1691Ter)
c.5131A>T (p.Lys1711Ter)
c.5026A>T (p.Lys1676Ter)
2g.26463981T>CCA346133739OTOFc.5086A>G (p.Lys1696Glu)
c.2785A>G (p.Lys929Glu)
c.2845A>G (p.Lys949Glu)
c.3016A>G (p.Lys1006Glu)
n.835A>G
c.5071A>G (p.Lys1691Glu)
c.5131A>G (p.Lys1711Glu)
c.5026A>G (p.Lys1676Glu)
2g.26463981T>GCA346133741OTOFc.5086A>C (p.Lys1696Gln)
c.2785A>C (p.Lys929Gln)
c.2845A>C (p.Lys949Gln)
c.3016A>C (p.Lys1006Gln)
n.835A>C
c.5071A>C (p.Lys1691Gln)
c.5131A>C (p.Lys1711Gln)
c.5026A>C (p.Lys1676Gln)
gnomAD v4
2g.26463982G>ACA425207074OTOFc.5085C>T (p.Asp1695=)
c.2784C>T (p.Asp928=)
c.2844C>T (p.Asp948=)
c.3015C>T (p.Asp1005=)
n.834C>T
c.5070C>T (p.Asp1690=)
c.5130C>T (p.Asp1710=)
c.5025C>T (p.Asp1675=)
dbSNP

Number of alleles fetched