Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.69419636A>CCA359922519MARVELD2c.251A>C (p.Asp84Ala)
5g.69419636A>GCA359922522MARVELD2c.251A>G (p.Asp84Gly)
5g.69419636A>TCA359922525MARVELD2c.251A>T (p.Asp84Val)
5g.69419637C>ACA359922533MARVELD2c.252C>A (p.Asp84Glu)
5g.69419637C>GCA359922536MARVELD2c.252C>G (p.Asp84Glu)
5g.69419637C>TCA445083305MARVELD2c.252C>T (p.Asp84=)
5g.69419638T>ACA359922539MARVELD2c.253T>A (p.Ser85Thr)
5g.69419638T>CCA359922542MARVELD2c.253T>C (p.Ser85Pro)
5g.69419638T>GCA359922544MARVELD2c.253T>G (p.Ser85Ala)
5g.69419639C>ACA359922554MARVELD2c.254C>A (p.Ser85Tyr)
5g.69419639C>GCA359922552MARVELD2c.254C>G (p.Ser85Cys)
5g.69419639C>TCA359922549MARVELD2c.254C>T (p.Ser85Phe)
gnomAD v4
5g.69419640C>ACA445083307MARVELD2c.255C>A (p.Ser85=)
5g.69419640C>GCA445083308MARVELD2c.255C>G (p.Ser85=)
gnomAD v4
5g.69419640C>TCA445083310MARVELD2c.255C>T (p.Ser85=)
gnomAD v4
5g.69419641T>ACA359922556MARVELD2c.256T>A (p.Trp86Arg)
5g.69419641T>CCA359922560MARVELD2c.256T>C (p.Trp86Arg)
gnomAD v4
5g.69419641T>GCA359922558MARVELD2c.256T>G (p.Trp86Gly)
5g.69419642G>ACA359922566MARVELD2c.257G>A (p.Trp86Ter)
5g.69419642G>CCA359922568MARVELD2c.257G>C (p.Trp86Ser)
dbSNP
5g.69419642G=CA1553915954MARVELD2c.257G= (p.Trp86=)
5g.69419642G>TCA359922571MARVELD2c.257G>T (p.Trp86Leu)
5g.69419643G>ACA359922575MARVELD2c.258G>A (p.Trp86Ter)
5g.69419643G>CCA359922576MARVELD2c.258G>C (p.Trp86Cys)
5g.69419643G>TCA359922579MARVELD2c.258G>T (p.Trp86Cys)
5g.69419644A=CA1553915958MARVELD2c.259A= (p.Lys87=)
5g.69419644A>CCA359922581MARVELD2c.259A>C (p.Lys87Gln)
5g.69419644A>GCA359922584MARVELD2c.259A>G (p.Lys87Glu)
dbSNP gnomAD v4
5g.69419644A>TCA3294005MARVELD2c.259A>T (p.Lys87Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.69419645A>CCA359922588MARVELD2c.260A>C (p.Lys87Thr)
5g.69419645A>GCA359922591MARVELD2c.260A>G (p.Lys87Arg)
5g.69419645A>TCA359922593MARVELD2c.260A>T (p.Lys87Met)
5g.69419646G>ACA445083325MARVELD2c.261G>A (p.Lys87=)
dbSNP
5g.69419646G>CCA3294006MARVELD2c.261G>C (p.Lys87Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.69419646G=CA1553915961MARVELD2c.261G= (p.Lys87=)
5g.69419646G>TCA359922599MARVELD2c.261G>T (p.Lys87Asn)
COSMIC
5g.69419647A>CCA359922602MARVELD2c.262A>C (p.Asn88His)
5g.69419647A>GCA359922604MARVELD2c.262A>G (p.Asn88Asp)
5g.69419647A>TCA359922607MARVELD2c.262A>T (p.Asn88Tyr)
5g.69419648A=CA1553915967MARVELD2c.263A= (p.Asn88=)
5g.69419648A>CCA359922609MARVELD2c.263A>C (p.Asn88Thr)
5g.69419648A>GCA3294007MARVELD2c.263A>G (p.Asn88Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.69419648A>TCA359922612MARVELD2c.263A>T (p.Asn88Ile)
5g.69419649C>ACA359922615MARVELD2c.264C>A (p.Asn88Lys)
dbSNP
5g.69419649C=CA1553915970MARVELD2c.264C= (p.Asn88=)
5g.69419649C>GCA359922618MARVELD2c.264C>G (p.Asn88Lys)
5g.69419649C>TCA445083333MARVELD2c.264C>T (p.Asn88=)
5g.69419650T>ACA359922624MARVELD2c.265T>A (p.Phe89Ile)
gnomAD v4
5g.69419650T>CCA359922627MARVELD2c.265T>C (p.Phe89Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.69419650T>GCA359922630MARVELD2c.265T>G (p.Phe89Val)
5g.69419650T=CA1553915974MARVELD2c.265T= (p.Phe89=)
5g.69419651T>ACA359922639MARVELD2c.266T>A (p.Phe89Tyr)
5g.69419651T>CCA359922641MARVELD2c.266T>C (p.Phe89Ser)
5g.69419651T>GCA359922638MARVELD2c.266T>G (p.Phe89Cys)
5g.69419652T>ACA359922643MARVELD2c.267T>A (p.Phe89Leu)
5g.69419652T>CCA445083334MARVELD2c.267T>C (p.Phe89=)
dbSNP gnomAD v2 gnomAD v4
5g.69419652T>GCA359922645MARVELD2c.267T>G (p.Phe89Leu)
5g.69419652T=CA1553915977MARVELD2c.267T= (p.Phe89=)
5g.69419653T>ACA359922647MARVELD2c.268T>A (p.Phe90Ile)
5g.69419653T>CCA359922649MARVELD2c.268T>C (p.Phe90Leu)
5g.69419653T>GCA359922651MARVELD2c.268T>G (p.Phe90Val)
gnomAD v4
5g.69419654T>ACA359922654MARVELD2c.269T>A (p.Phe90Tyr)
5g.69419654T>CCA359922657MARVELD2c.269T>C (p.Phe90Ser)
5g.69419654T>GCA359922658MARVELD2c.269T>G (p.Phe90Cys)
5g.69419655C>ACA359922662MARVELD2c.270C>A (p.Phe90Leu)
5g.69419655C=CA1553915979MARVELD2c.270C= (p.Phe90=)
5g.69419655C>GCA3294008MARVELD2c.270C>G (p.Phe90Leu)
dbSNP ExAC gnomAD v3 gnomAD v4
5g.69419655C>TCA445083344MARVELD2c.270C>T (p.Phe90=)
5g.69419656A>CCA445083348MARVELD2c.271A>C (p.Arg91=)
5g.69419656A>GCA359922668MARVELD2c.271A>G (p.Arg91Gly)
5g.69419656A>TCA359922670MARVELD2c.271A>T (p.Arg91Ter)
5g.69419657G>ACA359922676MARVELD2c.272G>A (p.Arg91Lys)
gnomAD v4
5g.69419657G>CCA359922678MARVELD2c.272G>C (p.Arg91Thr)
5g.69419657G>TCA359922673MARVELD2c.272G>T (p.Arg91Ile)
5g.69419658A=CA1553915985MARVELD2c.273A= (p.Arg91=)
5g.69419658A>CCA359922683MARVELD2c.273A>C (p.Arg91Ser)
5g.69419658A>GCA445083354MARVELD2c.273A>G (p.Arg91=)
5g.69419658A>TCA3294009MARVELD2c.273A>T (p.Arg91Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.69419659G>ACA359922689MARVELD2c.274G>A (p.Gly92Arg)
5g.69419659G>CCA359922690MARVELD2c.274G>C (p.Gly92Arg)
5g.69419659G>TCA359922693MARVELD2c.274G>T (p.Gly92Trp)
5g.69419660G>ACA359922701MARVELD2c.275G>A (p.Gly92Glu)
5g.69419660G>CCA359922697MARVELD2c.275G>C (p.Gly92Ala)
5g.69419660G>TCA359922698MARVELD2c.275G>T (p.Gly92Val)
5g.69419661G>ACA445083359MARVELD2c.276G>A (p.Gly92=)
5g.69419661G>CCA445083360MARVELD2c.276G>C (p.Gly92=)
gnomAD v4
5g.69419661G>TCA445083361MARVELD2c.276G>T (p.Gly92=)
gnomAD v4
5g.69419662A>CCA359922703MARVELD2c.277A>C (p.Lys93Gln)
5g.69419662A>GCA359922706MARVELD2c.277A>G (p.Lys93Glu)
gnomAD v4 COSMIC
5g.69419662A>TCA359922708MARVELD2c.277A>T (p.Lys93Ter)
5g.69419663A>CCA359922713MARVELD2c.278A>C (p.Lys93Thr)
5g.69419663A>GCA359922715MARVELD2c.278A>G (p.Lys93Arg)
gnomAD v4
5g.69419663A>TCA359922718MARVELD2c.278A>T (p.Lys93Met)
5g.69419664G>ACA445083363MARVELD2c.279G>A (p.Lys93=)
5g.69419664G>CCA359922724MARVELD2c.279G>C (p.Lys93Asn)
5g.69419664G>TCA359922721MARVELD2c.279G>T (p.Lys93Asn)
5g.69419665A>CCA359922728MARVELD2c.280A>C (p.Lys94Gln)
5g.69419665A>GCA359922733MARVELD2c.280A>G (p.Lys94Glu)
5g.69419665A>TCA359922730MARVELD2c.280A>T (p.Lys94Ter)
5g.69419669delCA2709348308MARVELD2c.284del (p.Lys95ArgfsTer?)
dbSNP
5g.69419666A>CCA359922737MARVELD2c.281A>C (p.Lys94Thr)
5g.69419666A>GCA359922738MARVELD2c.281A>G (p.Lys94Arg)
5g.69419666A>TCA359922741MARVELD2c.281A>T (p.Lys94Ile)
5g.69419667A>CCA359922744MARVELD2c.282A>C (p.Lys94Asn)
5g.69419667A>GCA445083372MARVELD2c.282A>G (p.Lys94=)
5g.69419667A>TCA359922747MARVELD2c.282A>T (p.Lys94Asn)
5g.69419667_69419671delinsAAAGGCA1553915990MARVELD2c.282_286delinsAAAGG (p.Lys94=)
5g.69419668A>CCA359922750MARVELD2c.283A>C (p.Lys95Gln)
5g.69419668A>GCA359922751MARVELD2c.283A>G (p.Lys95Glu)
5g.69419668A>TCA359922752MARVELD2c.283A>T (p.Lys95Ter)
5g.69419669_69419672delCA1077192010MARVELD2c.284_287del (p.Lys95ThrfsTer?)
dbSNP gnomAD v3 gnomAD v4
5g.69419669A>CCA359922754MARVELD2c.284A>C (p.Lys95Thr)
5g.69419669A>GCA359922758MARVELD2c.284A>G (p.Lys95Arg)
5g.69419669A>TCA359922756MARVELD2c.284A>T (p.Lys95Met)
5g.69419670G>ACA445083379MARVELD2c.285G>A (p.Lys95=)
5g.69419670G>CCA359922761MARVELD2c.285G>C (p.Lys95Asn)
5g.69419670G>TCA359922764MARVELD2c.285G>T (p.Lys95Asn)
5g.69419671G>ACA359922767MARVELD2c.286G>A (p.Asp96Asn)
5g.69419671G>CCA359922768MARVELD2c.286G>C (p.Asp96His)
5g.69419671G>TCA359922769MARVELD2c.286G>T (p.Asp96Tyr)
5g.69419672A>CCA359922773MARVELD2c.287A>C (p.Asp96Ala)
5g.69419672A>GCA359922776MARVELD2c.287A>G (p.Asp96Gly)
5g.69419672A>TCA359922774MARVELD2c.287A>T (p.Asp96Val)
gnomAD v4
5g.69419673C>ACA176712MARVELD2c.288C>A (p.Asp96Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.69419673C=CA1553915997MARVELD2c.288C= (p.Asp96=)
5g.69419673C>GCA359922780MARVELD2c.288C>G (p.Asp96Glu)
COSMIC
5g.69419673C>TCA445083392MARVELD2c.288C>T (p.Asp96=)
5g.69419674C>ACA359922783MARVELD2c.289C>A (p.Pro97Thr)
5g.69419674C=CA1553916003MARVELD2c.289C= (p.Pro97=)
5g.69419674C>GCA359922784MARVELD2c.289C>G (p.Pro97Ala)
5g.69419674C>TCA359922786MARVELD2c.289C>T (p.Pro97Ser)
dbSNP
5g.69419675C>ACA3294010MARVELD2c.290C>A (p.Pro97His)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.69419675C=CA1553916007MARVELD2c.290C= (p.Pro97=)
5g.69419675C>GCA359922791MARVELD2c.290C>G (p.Pro97Arg)
5g.69419675C>TCA359922793MARVELD2c.290C>T (p.Pro97Leu)
5g.69419676C>ACA445083394MARVELD2c.291C>A (p.Pro97=)
gnomAD v4
5g.69419676C=CA1553916011MARVELD2c.291C= (p.Pro97=)
5g.69419676C>GCA445083395MARVELD2c.291C>G (p.Pro97=)
5g.69419676C>TCA3294011MARVELD2c.291C>T (p.Pro97=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.69419677G>ACA3294012MARVELD2c.292G>A (p.Glu98Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.69419677G>CCA359922798MARVELD2c.292G>C (p.Glu98Gln)
5g.69419677G=CA1553916016MARVELD2c.292G= (p.Glu98=)
5g.69419677G>TCA359922800MARVELD2c.292G>T (p.Glu98Ter)
5g.69419678A>CCA359922804MARVELD2c.293A>C (p.Glu98Ala)
5g.69419678A>GCA359922815MARVELD2c.293A>G (p.Glu98Gly)
gnomAD v4
5g.69419678A>TCA359922812MARVELD2c.293A>T (p.Glu98Val)
5g.69419679A>CCA359922818MARVELD2c.294A>C (p.Glu98Asp)
5g.69419679A>GCA445083400MARVELD2c.294A>G (p.Glu98=)
gnomAD v4
5g.69419679A>TCA359922821MARVELD2c.294A>T (p.Glu98Asp)
5g.69419680T>ACA359922824MARVELD2c.295T>A (p.Trp99Arg)
5g.69419680T>CCA359922825MARVELD2c.295T>C (p.Trp99Arg)
dbSNP
5g.69419680T>GCA359922826MARVELD2c.295T>G (p.Trp99Gly)
5g.69419680T=CA1553916021MARVELD2c.295T= (p.Trp99=)
5g.69419681G>ACA119991200MARVELD2c.296G>A (p.Trp99Ter)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.69419681G>CCA359922829MARVELD2c.296G>C (p.Trp99Ser)
5g.69419681G=CA1553916024MARVELD2c.296G= (p.Trp99=)
5g.69419681G>TCA359922827MARVELD2c.296G>T (p.Trp99Leu)
5g.69419682G>ACA359922832MARVELD2c.297G>A (p.Trp99Ter)
gnomAD v4
5g.69419682G>CCA359922835MARVELD2c.297G>C (p.Trp99Cys)
5g.69419682G>TCA359922836MARVELD2c.297G>T (p.Trp99Cys)
5g.69419683G>ACA359922839MARVELD2c.298G>A (p.Asp100Asn)
5g.69419683G>CCA359922843MARVELD2c.298G>C (p.Asp100His)
5g.69419683G>TCA359922846MARVELD2c.298G>T (p.Asp100Tyr)
5g.69419684A>CCA359922847MARVELD2c.299A>C (p.Asp100Ala)
5g.69419684A>GCA359922853MARVELD2c.299A>G (p.Asp100Gly)
5g.69419684A>TCA359922850MARVELD2c.299A>T (p.Asp100Val)
5g.69419685T>ACA359922855MARVELD2c.300T>A (p.Asp100Glu)
5g.69419685T>CCA445083419MARVELD2c.300T>C (p.Asp100=)
5g.69419685T>GCA359922857MARVELD2c.300T>G (p.Asp100Glu)
5g.69419685T=CA1553916029MARVELD2c.300T= (p.Asp100=)
5g.69419686A=CA1553916032MARVELD2c.301A= (p.Lys101=)
5g.69419686A>CCA359922862MARVELD2c.301A>C (p.Lys101Gln)
dbSNP
5g.69419686A>GCA359922865MARVELD2c.301A>G (p.Lys101Glu)
5g.69419686A>TCA359922867MARVELD2c.301A>T (p.Lys101Ter)
dbSNP
5g.69419687dupCA3294013MARVELD2c.302dup (p.Pro102AlafsTer4)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.69419687A>CCA359922871MARVELD2c.302A>C (p.Lys101Thr)
5g.69419687A>GCA359922874MARVELD2c.302A>G (p.Lys101Arg)
5g.69419687A>TCA359922877MARVELD2c.302A>T (p.Lys101Met)
5g.69419688G>ACA445083444MARVELD2c.303G>A (p.Lys101=)
5g.69419688G>CCA359922882MARVELD2c.303G>C (p.Lys101Asn)
5g.69419688G>TCA359922884MARVELD2c.303G>T (p.Lys101Asn)
5g.69419689C>ACA359922888MARVELD2c.304C>A (p.Pro102Thr)
5g.69419689C=CA1553916037MARVELD2c.304C= (p.Pro102=)
5g.69419689C>GCA119991218MARVELD2c.304C>G (p.Pro102Ala)
dbSNP
5g.69419689C>TCA3294014MARVELD2c.304C>T (p.Pro102Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.69419690C>ACA359922896MARVELD2c.305C>A (p.Pro102Gln)
5g.69419690C=CA1553916041MARVELD2c.305C= (p.Pro102=)
5g.69419690C>GCA359922901MARVELD2c.305C>G (p.Pro102Arg)
5g.69419690C>TCA359922898MARVELD2c.305C>T (p.Pro102Leu)
dbSNP gnomAD v3 gnomAD v4 COSMIC
5g.69419691G>ACA3294015MARVELD2c.306G>A (p.Pro102=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.69419691G>CCA445083448MARVELD2c.306G>C (p.Pro102=)
dbSNP gnomAD v3 gnomAD v4
5g.69419691G=CA1553916047MARVELD2c.306G= (p.Pro102=)
5g.69419691G>TCA445083449MARVELD2c.306G>T (p.Pro102=)
dbSNP gnomAD v2
5g.69419692delCA2674131174MARVELD2c.307del (p.Val103CysfsTer?)
gnomAD v4
5g.69419692G>ACA359922907MARVELD2c.307G>A (p.Val103Met)
5g.69419692G>CCA359922908MARVELD2c.307G>C (p.Val103Leu)
5g.69419692G>TCA359922910MARVELD2c.307G>T (p.Val103Leu)
gnomAD v4
5g.69419693T>ACA359922912MARVELD2c.308T>A (p.Val103Glu)
5g.69419693T>CCA359922914MARVELD2c.308T>C (p.Val103Ala)
5g.69419693T>GCA359922919MARVELD2c.308T>G (p.Val103Gly)
5g.69419694G>ACA3294016MARVELD2c.309G>A (p.Val103=)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.69419694G>CCA445083459MARVELD2c.309G>C (p.Val103=)
5g.69419694G=CA1553916053MARVELD2c.309G= (p.Val103=)
5g.69419694G>TCA445083460MARVELD2c.309G>T (p.Val103=)
5g.69419695T>ACA359922931MARVELD2c.310T>A (p.Ser104Thr)
5g.69419695T>CCA359922932MARVELD2c.310T>C (p.Ser104Pro)
5g.69419695T>GCA359922937MARVELD2c.310T>G (p.Ser104Ala)
5g.69419696C>ACA359922947MARVELD2c.311C>A (p.Ser104Tyr)
5g.69419696C=CA1553916057MARVELD2c.311C= (p.Ser104=)
5g.69419696C>GCA359922945MARVELD2c.311C>G (p.Ser104Cys)
5g.69419696C>TCA359922942MARVELD2c.311C>T (p.Ser104Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.69419697T>ACA445083174MARVELD2c.312T>A (p.Ser104=)
5g.69419697T>CCA445083176MARVELD2c.312T>C (p.Ser104=)
5g.69419697T>GCA445083178MARVELD2c.312T>G (p.Ser104=)
5g.69419698G>ACA359922950MARVELD2c.313G>A (p.Asp105Asn)
5g.69419698G>CCA359922952MARVELD2c.313G>C (p.Asp105His)
COSMIC
5g.69419698G>TCA359922954MARVELD2c.313G>T (p.Asp105Tyr)
5g.69419699A=CA1553916059MARVELD2c.314A= (p.Asp105=)
5g.69419699A>CCA359922959MARVELD2c.314A>C (p.Asp105Ala)
gnomAD v4
5g.69419699A>GCA359922960MARVELD2c.314A>G (p.Asp105Gly)
dbSNP
5g.69419699A>TCA359922963MARVELD2c.314A>T (p.Asp105Val)
5g.69419700T>ACA359922970MARVELD2c.315T>A (p.Asp105Glu)
5g.69419700T>CCA445083187MARVELD2c.315T>C (p.Asp105=)
gnomAD v4
5g.69419700T>GCA359922972MARVELD2c.315T>G (p.Asp105Glu)
5g.69419701A>CCA359922975MARVELD2c.316A>C (p.Ile106Leu)
gnomAD v4
5g.69419701A>GCA359922978MARVELD2c.316A>G (p.Ile106Val)
5g.69419701A>TCA359922981MARVELD2c.316A>T (p.Ile106Phe)
5g.69419702T>ACA359922989MARVELD2c.317T>A (p.Ile106Asn)
dbSNP gnomAD v3 gnomAD v4
5g.69419702T>CCA359922987MARVELD2c.317T>C (p.Ile106Thr)
dbSNP gnomAD v4
5g.69419702T>GCA359922984MARVELD2c.317T>G (p.Ile106Ser)
5g.69419702T=CA1553916062MARVELD2c.317T= (p.Ile106=)
5g.69419703C>ACA445083192MARVELD2c.318C>A (p.Ile106=)
5g.69419703C>GCA359922991MARVELD2c.318C>G (p.Ile106Met)
gnomAD v4
5g.69419703C>TCA445083193MARVELD2c.318C>T (p.Ile106=)
5g.69419704A>CCA445083194MARVELD2c.319A>C (p.Arg107=)
5g.69419704A>GCA359922994MARVELD2c.319A>G (p.Arg107Gly)
5g.69419704A>TCA359922995MARVELD2c.319A>T (p.Arg107Trp)
5g.69419705G>ACA3294017MARVELD2c.320G>A (p.Arg107Lys)
dbSNP ExAC gnomAD v2 COSMIC
5g.69419705G>CCA359923004MARVELD2c.320G>C (p.Arg107Thr)
5g.69419705G=CA1553916066MARVELD2c.320G= (p.Arg107=)
5g.69419705G>TCA359923007MARVELD2c.320G>T (p.Arg107Met)
5g.69419706G>ACA445083197MARVELD2c.321G>A (p.Arg107=)
dbSNP gnomAD v4
5g.69419706G>CCA359923010MARVELD2c.321G>C (p.Arg107Ser)
5g.69419706G=CA1553916069MARVELD2c.321G= (p.Arg107=)
5g.69419706G>TCA359923012MARVELD2c.321G>T (p.Arg107Ser)
5g.69419707T>ACA359923015MARVELD2c.322T>A (p.Tyr108Asn)
5g.69419707T>CCA359923017MARVELD2c.322T>C (p.Tyr108His)
5g.69419707T>GCA359923019MARVELD2c.322T>G (p.Tyr108Asp)
5g.69419708A>CCA359923022MARVELD2c.323A>C (p.Tyr108Ser)
5g.69419708A>GCA359923035MARVELD2c.323A>G (p.Tyr108Cys)
gnomAD v4
5g.69419708A>TCA359923039MARVELD2c.323A>T (p.Tyr108Phe)
5g.69419709C>ACA359923041MARVELD2c.324C>A (p.Tyr108Ter)
5g.69419709C=CA1553916070MARVELD2c.324C= (p.Tyr108=)
5g.69419709C>GCA359923045MARVELD2c.324C>G (p.Tyr108Ter)
5g.69419709C>TCA445083206MARVELD2c.324C>T (p.Tyr108=)
dbSNP
5g.69419710A>CCA359923049MARVELD2c.325A>C (p.Ile109Leu)
gnomAD v4
5g.69419710A>GCA359923051MARVELD2c.325A>G (p.Ile109Val)
5g.69419710A>TCA359923053MARVELD2c.325A>T (p.Ile109Phe)
5g.69419711T>ACA359923056MARVELD2c.326T>A (p.Ile109Asn)
5g.69419711T>CCA359923059MARVELD2c.326T>C (p.Ile109Thr)
5g.69419711T>GCA359923062MARVELD2c.326T>G (p.Ile109Ser)
5g.69419712C>ACA445083223MARVELD2c.327C>A (p.Ile109=)
5g.69419712C=CA1553916072MARVELD2c.327C= (p.Ile109=)
5g.69419712C>GCA359923064MARVELD2c.327C>G (p.Ile109Met)
5g.69419712C>TCA445083226MARVELD2c.327C>T (p.Ile109=)
dbSNP gnomAD v3 gnomAD v4
5g.69419712_69419713delinsCTCA1553916073MARVELD2c.327_328delinsCT (p.Ile109=)
5g.69419713delCA3294018MARVELD2c.328del (p.Ser110ProfsTer?)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.69419713T>ACA359923067MARVELD2c.328T>A (p.Ser110Thr)
5g.69419713T>CCA359923070MARVELD2c.328T>C (p.Ser110Pro)
5g.69419713T>GCA359923073MARVELD2c.328T>G (p.Ser110Ala)
5g.69419714C>ACA359923087MARVELD2c.329C>A (p.Ser110Tyr)
5g.69419714C>GCA359923084MARVELD2c.329C>G (p.Ser110Cys)
5g.69419714C>TCA359923081MARVELD2c.329C>T (p.Ser110Phe)
5g.69419715delCA2766864333MARVELD2c.330del (p.Asp111MetfsTer?)
5g.69419715C>ACA445083234MARVELD2c.330C>A (p.Ser110=)
dbSNP gnomAD v2
5g.69419715C=CA1553916081MARVELD2c.330C= (p.Ser110=)
5g.69419715C>GCA445083233MARVELD2c.330C>G (p.Ser110=)
dbSNP gnomAD v2 gnomAD v4
5g.69419715C>TCA3294019MARVELD2c.330C>T (p.Ser110=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.69419716G>ACA133015MARVELD2c.331G>A (p.Asp111Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.69419716G>CCA359923092MARVELD2c.331G>C (p.Asp111His)
5g.69419716G=CA1553916086MARVELD2c.331G= (p.Asp111=)
5g.69419716G>TCA359923095MARVELD2c.331G>T (p.Asp111Tyr)
5g.69419717A>CCA359923098MARVELD2c.332A>C (p.Asp111Ala)
5g.69419717A>GCA359923102MARVELD2c.332A>G (p.Asp111Gly)
5g.69419717A>TCA359923105MARVELD2c.332A>T (p.Asp111Val)
5g.69419718T>ACA359923108MARVELD2c.333T>A (p.Asp111Glu)
5g.69419718T>CCA445083242MARVELD2c.333T>C (p.Asp111=)
dbSNP gnomAD v4
5g.69419718T>GCA359923111MARVELD2c.333T>G (p.Asp111Glu)
5g.69419719G>ACA359923113MARVELD2c.334G>A (p.Gly112Arg)
5g.69419719G>CCA359923114MARVELD2c.334G>C (p.Gly112Arg)
5g.69419719G>TCA359923117MARVELD2c.334G>T (p.Gly112Ter)
5g.69419720G>ACA359923120MARVELD2c.335G>A (p.Gly112Glu)
5g.69419720G>CCA359923122MARVELD2c.335G>C (p.Gly112Ala)
5g.69419720G>TCA359923125MARVELD2c.335G>T (p.Gly112Val)
5g.69419721A=CA1553916093MARVELD2c.336A= (p.Gly112=)
5g.69419721A>CCA445083251MARVELD2c.336A>C (p.Gly112=)
5g.69419721A>GCA445083253MARVELD2c.336A>G (p.Gly112=)
gnomAD v4
5g.69419721A>TCA3294020MARVELD2c.336A>T (p.Gly112=)
dbSNP ExAC gnomAD v4
5g.69419722G>ACA3294021MARVELD2c.337G>A (p.Val113Met)
dbSNP ExAC gnomAD v2
5g.69419722G>CCA359923131MARVELD2c.337G>C (p.Val113Leu)
5g.69419722G=CA1553916096MARVELD2c.337G= (p.Val113=)
5g.69419722G>TCA359923133MARVELD2c.337G>T (p.Val113Leu)
5g.69419723T>ACA359923136MARVELD2c.338T>A (p.Val113Glu)
5g.69419723T>CCA359923139MARVELD2c.338T>C (p.Val113Ala)
5g.69419723T>GCA359923141MARVELD2c.338T>G (p.Val113Gly)
5g.69419724G>ACA445083258MARVELD2c.339G>A (p.Val113=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.69419724G>CCA445083261MARVELD2c.339G>C (p.Val113=)
gnomAD v4
5g.69419724G=CA1553916102MARVELD2c.339G= (p.Val113=)
5g.69419724G>TCA445083263MARVELD2c.339G>T (p.Val113=)
5g.69419725G>ACA359923144MARVELD2c.340G>A (p.Glu114Lys)
5g.69419725G>CCA359923147MARVELD2c.340G>C (p.Glu114Gln)
dbSNP gnomAD v4
5g.69419725G=CA1553916107MARVELD2c.340G= (p.Glu114=)
5g.69419725G>TCA3294022MARVELD2c.340G>T (p.Glu114Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.69419726A>CCA359923153MARVELD2c.341A>C (p.Glu114Ala)
5g.69419726A>GCA359923156MARVELD2c.341A>G (p.Glu114Gly)
gnomAD v4
5g.69419726A>TCA359923158MARVELD2c.341A>T (p.Glu114Val)
5g.69419727G>ACA445083271MARVELD2c.342G>A (p.Glu114=)
gnomAD v4
5g.69419727G>CCA359923161MARVELD2c.342G>C (p.Glu114Asp)
5g.69419727G>TCA359923164MARVELD2c.342G>T (p.Glu114Asp)
5g.69419728T>ACA359923168MARVELD2c.343T>A (p.Cys115Ser)
5g.69419728T>CCA359923170MARVELD2c.343T>C (p.Cys115Arg)
5g.69419728T>GCA3294023MARVELD2c.343T>G (p.Cys115Gly)
dbSNP ExAC gnomAD v4
5g.69419728T=CA1553916112MARVELD2c.343T= (p.Cys115=)
5g.69419729G>ACA359923172MARVELD2c.344G>A (p.Cys115Tyr)
dbSNP gnomAD v2
5g.69419729G>CCA359923174MARVELD2c.344G>C (p.Cys115Ser)
5g.69419729G=CA1553916113MARVELD2c.344G= (p.Cys115=)
5g.69419729G>TCA3294024MARVELD2c.344G>T (p.Cys115Phe)
dbSNP ExAC
5g.69419730T>ACA359923175MARVELD2c.345T>A (p.Cys115Ter)
5g.69419730T>CCA445083280MARVELD2c.345T>C (p.Cys115=)
COSMIC
5g.69419730T>GCA359923176MARVELD2c.345T>G (p.Cys115Trp)
5g.69419731T>ACA359923177MARVELD2c.346T>A (p.Ser116Thr)
5g.69419731T>CCA3294025MARVELD2c.346T>C (p.Ser116Pro)
dbSNP ExAC gnomAD v4
5g.69419731T>GCA359923178MARVELD2c.346T>G (p.Ser116Ala)
5g.69419731T=CA1553916114MARVELD2c.346T= (p.Ser116=)
5g.69419732C>ACA359923179MARVELD2c.347C>A (p.Ser116Ter)
5g.69419732C>GCA359923180MARVELD2c.347C>G (p.Ser116Ter)
5g.69419732C>TCA359923181MARVELD2c.347C>T (p.Ser116Leu)
5g.69419737_69419739delCA2674131175MARVELD2c.352_354del (p.Pro118del)
gnomAD v4
5g.69419733A=CA1553916115MARVELD2c.348A= (p.Ser116=)
5g.69419733A>CCA3294026MARVELD2c.348A>C (p.Ser116=)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.69419733A>GCA445083287MARVELD2c.348A>G (p.Ser116=)
5g.69419733A>TCA445083288MARVELD2c.348A>T (p.Ser116=)
5g.69419734C>ACA359923183MARVELD2c.349C>A (p.Pro117Thr)
5g.69419734C>GCA359923184MARVELD2c.349C>G (p.Pro117Ala)
5g.69419734C>TCA359923182MARVELD2c.349C>T (p.Pro117Ser)
5g.69419735C>ACA359923185MARVELD2c.350C>A (p.Pro117Gln)
5g.69419735C>GCA359923186MARVELD2c.350C>G (p.Pro117Arg)
5g.69419735C>TCA359923187MARVELD2c.350C>T (p.Pro117Leu)
5g.69419736A=CA1553916117MARVELD2c.351A= (p.Pro117=)
5g.69419736A>CCA3294027MARVELD2c.351A>C (p.Pro117=)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.69419736A>GCA445083299MARVELD2c.351A>G (p.Pro117=)
5g.69419736A>TCA445083300MARVELD2c.351A>T (p.Pro117=)

Number of alleles fetched