Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.148470238_148470242delinsCACTACA1296773914MBD5c.731_735delinsCACTA
c.2295_2299delinsCACTA (p.Asn765=)
c.1514_1518delinsCACTA
n.3524_3528delinsCACTA
n.2607_2611delinsCACTA
2g.148470242_148470245delCA16610205MBD5c.735_738del
c.2299_2302del (p.Asn767LeufsTer16)
c.1518_1521del
n.3528_3531del
n.2611_2614del
 ClinVar dbSNP
2g.148470242A>CCA348721556MBD5c.735A>C
c.2299A>C (p.Asn767His)
c.1518A>C
n.3528A>C
n.2611A>C
2g.148470242A>GCA348721555MBD5c.735A>G
c.2299A>G (p.Asn767Asp)
c.1518A>G
n.3528A>G
n.2611A>G
 gnomAD v4
2g.148470242A>TCA348721554MBD5c.735A>T
c.2299A>T (p.Asn767Tyr)
c.1518A>T
n.3528A>T
n.2611A>T
2g.148470243A>CCA348721557MBD5c.736A>C
c.2300A>C (p.Asn767Thr)
c.1519A>C
n.3529A>C
n.2612A>C
2g.148470243A>GCA348721558MBD5c.736A>G
c.2300A>G (p.Asn767Ser)
c.1519A>G
n.3529A>G
n.2612A>G
2g.148470243A>TCA348721559MBD5c.736A>T
c.2300A>T (p.Asn767Ile)
c.1519A>T
n.3529A>T
n.2612A>T
2g.148470244C>ACA348721560MBD5c.737C>A
c.2301C>A (p.Asn767Lys)
c.1520C>A
n.3530C>A
n.2613C>A
2g.148470244C=CA1296773917MBD5c.737C=
c.2301C= (p.Asn767=)
c.1520C=
n.3530C=
n.2613C=
2g.148470244C>GCA348721561MBD5c.737C>G
c.2301C>G (p.Asn767Lys)
c.1520C>G
n.3530C>G
n.2613C>G
2g.148470244C>TCA10610861MBD5c.737C>T
c.2301C>T (p.Asn767=)
c.1520C>T
n.3530C>T
n.2613C>T
 dbSNP gnomAD v4
2g.148470245T>ACA348721562MBD5c.738T>A
c.2302T>A (p.Phe768Ile)
c.1521T>A
n.3531T>A
n.2614T>A
2g.148470245T>CCA348721563MBD5c.738T>C
c.2302T>C (p.Phe768Leu)
c.1521T>C
n.3531T>C
n.2614T>C
 dbSNP
2g.148470245T>GCA348721564MBD5c.738T>G
c.2302T>G (p.Phe768Val)
c.1521T>G
n.3531T>G
n.2614T>G
2g.148470245T=CA1296773918MBD5c.738T=
c.2302T= (p.Phe768=)
c.1521T=
n.3531T=
n.2614T=
2g.148470246T>ACA348721565MBD5c.739T>A
c.2303T>A (p.Phe768Tyr)
c.1522T>A
n.3532T>A
n.2615T>A
2g.148470246T>CCA348721566MBD5c.739T>C
c.2303T>C (p.Phe768Ser)
c.1522T>C
n.3532T>C
n.2615T>C
2g.148470246T>GCA348721567MBD5c.739T>G
c.2303T>G (p.Phe768Cys)
c.1522T>G
n.3532T>G
n.2615T>G
2g.148470247T>ACA348721569MBD5c.740T>A
c.2304T>A (p.Phe768Leu)
c.1523T>A
n.3533T>A
n.2616T>A
2g.148470247T>CCA1900119MBD5c.740T>C
c.2304T>C (p.Phe768=)
c.1523T>C
n.3533T>C
n.2616T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.148470247T>GCA348721568MBD5c.740T>G
c.2304T>G (p.Phe768Leu)
c.1523T>G
n.3533T>G
n.2616T>G
2g.148470247T=CA1296773919MBD5c.740T=
c.2304T= (p.Phe768=)
c.1523T=
n.3533T=
n.2616T=
2g.148470248G>ACA1900120MBD5c.741G>A
c.2305G>A (p.Val769Ile)
c.1524G>A
n.3534G>A
n.2617G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.148470248G>CCA348721570MBD5c.741G>C
c.2305G>C (p.Val769Leu)
c.1524G>C
n.3534G>C
n.2617G>C
2g.148470248G=CA1296773920MBD5c.741G=
c.2305G= (p.Val769=)
c.1524G=
n.3534G=
n.2617G=
2g.148470248G>TCA1900121MBD5c.741G>T
c.2305G>T (p.Val769Phe)
c.1524G>T
n.3534G>T
n.2617G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.148470249T>ACA348721571MBD5c.742T>A
c.2306T>A (p.Val769Asp)
c.1525T>A
n.3535T>A
n.2618T>A
 gnomAD v4
2g.148470249T>CCA348721572MBD5c.742T>C
c.2306T>C (p.Val769Ala)
c.1525T>C
n.3535T>C
n.2618T>C
 COSMIC
2g.148470249T>GCA348721573MBD5c.742T>G
c.2306T>G (p.Val769Gly)
c.1525T>G
n.3535T>G
n.2618T>G
2g.148470250T>ACA429447511MBD5c.743T>A
c.2307T>A (p.Val769=)
c.1526T>A
n.3536T>A
n.2619T>A
2g.148470250T>CCA429447513MBD5c.743T>C
c.2307T>C (p.Val769=)
c.1526T>C
n.3536T>C
n.2619T>C
2g.148470250T>GCA429447512MBD5c.743T>G
c.2307T>G (p.Val769=)
c.1526T>G
n.3536T>G
n.2619T>G
2g.148470251C>ACA348721575MBD5c.744C>A
c.2308C>A (p.His770Asn)
c.1527C>A
n.3537C>A
n.2620C>A
2g.148470251C=CA1296773921MBD5c.744C=
c.2308C= (p.His770=)
c.1527C=
n.3537C=
n.2620C=
2g.148470251C>GCA348721574MBD5c.744C>G
c.2308C>G (p.His770Asp)
c.1527C>G
n.3537C>G
n.2620C>G
2g.148470251C>TCA1900122MBD5c.744C>T
c.2308C>T (p.His770Tyr)
c.1527C>T
n.3537C>T
n.2620C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.148470252A>CCA348721576MBD5c.745A>C
c.2309A>C (p.His770Pro)
c.1528A>C
n.3538A>C
n.2621A>C
2g.148470252A>GCA348721577MBD5c.745A>G
c.2309A>G (p.His770Arg)
c.1528A>G
n.3538A>G
n.2621A>G
2g.148470252A>TCA348721578MBD5c.745A>T
c.2309A>T (p.His770Leu)
c.1528A>T
n.3538A>T
n.2621A>T
2g.148470253C>ACA348721579MBD5c.746C>A
c.2310C>A (p.His770Gln)
c.1529C>A
n.3539C>A
n.2622C>A
2g.148470253C=CA1296773922MBD5c.746C=
c.2310C= (p.His770=)
c.1529C=
n.3539C=
n.2622C=
2g.148470253C>GCA348721580MBD5c.746C>G
c.2310C>G (p.His770Gln)
c.1529C>G
n.3539C>G
n.2622C>G
2g.148470253C>TCA57579696MBD5c.746C>T
c.2310C>T (p.His770=)
c.1529C>T
n.3539C>T
n.2622C>T
 dbSNP gnomAD v4
2g.148470254A=CA1296773923MBD5c.747A=
c.2311A= (p.Ser771=)
c.1530A=
n.3540A=
n.2623A=
2g.148470254A>CCA348721581MBD5c.747A>C
c.2311A>C (p.Ser771Arg)
c.1530A>C
n.3540A>C
n.2623A>C
2g.148470254A>GCA1900123MBD5c.747A>G
c.2311A>G (p.Ser771Gly)
c.1530A>G
n.3540A>G
n.2623A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.148470254A>TCA348721582MBD5c.747A>T
c.2311A>T (p.Ser771Cys)
c.1530A>T
n.3540A>T
n.2623A>T
2g.148470255G>ACA348721583MBD5c.748G>A
c.2312G>A (p.Ser771Asn)
c.1531G>A
n.3541G>A
n.2624G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.148470255G>CCA348721584MBD5c.748G>C
c.2312G>C (p.Ser771Thr)
c.1531G>C
n.3541G>C
n.2624G>C

Number of alleles fetched