Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.25161554C>ACA346067289POMCc.331G>T (p.Glu111Ter)
gnomAD v4
2g.25161554C>GCA346067290POMCc.331G>C (p.Glu111Gln)
2g.25161554C>TCA346067291POMCc.331G>A (p.Glu111Lys)
gnomAD v4
2g.25161555G>ACA425353534POMCc.330C>T (p.Gly110=)
dbSNP gnomAD v4
2g.25161555G>CCA425353535POMCc.330C>G (p.Gly110=)
2g.25161555G=CA1239227776POMCc.330C= (p.Gly110=)
2g.25161555G>TCA425353537POMCc.330C>A (p.Gly110=)
gnomAD v4
2g.25161556C>ACA346067294POMCc.329G>T (p.Gly110Val)
2g.25161556C>GCA346067293POMCc.329G>C (p.Gly110Ala)
2g.25161556C>TCA346067292POMCc.329G>A (p.Gly110Asp)
gnomAD v4
2g.25161557C>ACA346067295POMCc.328G>T (p.Gly110Cys)
gnomAD v4
2g.25161557C=CA1239227778POMCc.328G= (p.Gly110=)
2g.25161557C>GCA346067297POMCc.328G>C (p.Gly110Arg)
2g.25161557C>TCA346067296POMCc.328G>A (p.Gly110Ser)
dbSNP gnomAD v4
2g.25161558C>ACA425353539POMCc.327G>T (p.Ala109=)
dbSNP
2g.25161558C=CA1239227782POMCc.327G= (p.Ala109=)
2g.25161558C>GCA1555319POMCc.327G>C (p.Ala109=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161558C>TCA425353540POMCc.327G>A (p.Ala109=)
gnomAD v4
2g.25161559G>ACA346067298POMCc.326C>T (p.Ala109Val)
gnomAD v4 COSMIC
2g.25161559G>CCA346067299POMCc.326C>G (p.Ala109Gly)
dbSNP gnomAD v2 gnomAD v4
2g.25161559G=CA1239227784POMCc.326C= (p.Ala109=)
2g.25161559G>TCA346067300POMCc.326C>A (p.Ala109Glu)
gnomAD v4
2g.25161560C>ACA346067301POMCc.325G>T (p.Ala109Ser)
gnomAD v4
2g.25161560C=CA1239227790POMCc.325G= (p.Ala109=)
2g.25161560C>GCA346067302POMCc.325G>C (p.Ala109Pro)
dbSNP gnomAD v2 gnomAD v4
2g.25161560C>TCA43684782POMCc.325G>A (p.Ala109Thr)
dbSNP gnomAD v4
2g.25161561T>ACA425353550POMCc.324A>T (p.Ser108=)
2g.25161561T>CCA425353549POMCc.324A>G (p.Ser108=)
dbSNP gnomAD v3 gnomAD v4
2g.25161561T>GCA425353548POMCc.324A>C (p.Ser108=)
2g.25161561T=CA1239227792POMCc.324A= (p.Ser108=)
2g.25161562G>ACA43684786POMCc.323C>T (p.Ser108Leu)
dbSNP gnomAD v2 gnomAD v4
2g.25161562G>CCA346067303POMCc.323C>G (p.Ser108Ter)
gnomAD v4
2g.25161562G=CA1239227796POMCc.323C= (p.Ser108=)
2g.25161562G>TCA346067304POMCc.323C>A (p.Ser108Ter)
dbSNP gnomAD v4
2g.25161563A>CCA346067307POMCc.322T>G (p.Ser108Ala)
2g.25161563A>GCA346067306POMCc.322T>C (p.Ser108Pro)
2g.25161563A>TCA346067305POMCc.322T>A (p.Ser108Thr)
2g.25161564G>ACA425353555POMCc.321C>T (p.Val107=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161564G>CCA425353557POMCc.321C>G (p.Val107=)
dbSNP gnomAD v2 gnomAD v4
2g.25161564G=CA1239227800POMCc.321C= (p.Val107=)
2g.25161564G>TCA425353560POMCc.321C>A (p.Val107=)
2g.25161565A>CCA346067308POMCc.320T>G (p.Val107Gly)
2g.25161565A>GCA346067309POMCc.320T>C (p.Val107Ala)
gnomAD v4
2g.25161565A>TCA346067310POMCc.320T>A (p.Val107Asp)
2g.25161566C>ACA346067311POMCc.319G>T (p.Val107Phe)
gnomAD v4
2g.25161566C>GCA346067312POMCc.319G>C (p.Val107Leu)
2g.25161566C>TCA346067313POMCc.319G>A (p.Val107Ile)
gnomAD v4
2g.25161567G>ACA43684789POMCc.318C>T (p.Asp106=)
dbSNP gnomAD v3 gnomAD v4
2g.25161567G>CCA346067314POMCc.318C>G (p.Asp106Glu)
dbSNP gnomAD v4
2g.25161567G=CA1239227804POMCc.318C= (p.Asp106=)
2g.25161567G>TCA346067315POMCc.318C>A (p.Asp106Glu)
gnomAD v4
2g.25161568T>ACA346067316POMCc.317A>T (p.Asp106Val)
2g.25161568T>CCA346067317POMCc.317A>G (p.Asp106Gly)
2g.25161568T>GCA346067318POMCc.317A>C (p.Asp106Ala)
2g.25161568_25161572delCA2658163200POMCc.313_317del (p.Glu105ArgfsTer12)
gnomAD v4
2g.25161569C>ACA346067319POMCc.316G>T (p.Asp106Tyr)
2g.25161569C=CA1239227809POMCc.316G= (p.Asp106=)
2g.25161569C>GCA346067320POMCc.316G>C (p.Asp106His)
2g.25161569C>TCA1555320POMCc.316G>A (p.Asp106Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.25161570C>ACA346067321POMCc.315G>T (p.Glu105Asp)
gnomAD v4
2g.25161570C=CA1239227811POMCc.315G= (p.Glu105=)
2g.25161570C>GCA346067322POMCc.315G>C (p.Glu105Asp)
2g.25161570C>TCA425353571POMCc.315G>A (p.Glu105=)
dbSNP gnomAD v2 gnomAD v4
2g.25161571T>ACA346067323POMCc.314A>T (p.Glu105Val)
2g.25161571T>CCA1555321POMCc.314A>G (p.Glu105Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.25161571T>GCA346067324POMCc.314A>C (p.Glu105Ala)
2g.25161571T=CA1239227815POMCc.314A= (p.Glu105=)
2g.25161572C>ACA256767POMCc.313G>T (p.Glu105Ter)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.25161572C=CA1239227835POMCc.313G= (p.Glu105=)
2g.25161572C>GCA346067325POMCc.313G>C (p.Glu105Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.25161572C>TCA43684814POMCc.313G>A (p.Glu105Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161573G>ACA43684818POMCc.312C>T (p.Arg104=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161573G>CCA425353578POMCc.312C>G (p.Arg104=)
gnomAD v4
2g.25161573G=CA1239227844POMCc.312C= (p.Arg104=)
2g.25161573G>TCA425353579POMCc.312C>A (p.Arg104=)
dbSNP gnomAD v2 gnomAD v4
2g.25161573_25161589delinsGCGCTTCTGCCCTGCGCCA1239227846POMCc.296_312delinsGCGCAGGGCAGAAGCGC (p.Gly99=)
2g.25161574C>ACA346067326POMCc.311G>T (p.Arg104Leu)
gnomAD v4
2g.25161574C=CA1239227851POMCc.311G= (p.Arg104=)
2g.25161574C>GCA346067327POMCc.311G>C (p.Arg104Pro)
2g.25161574C>TCA43684823POMCc.311G>A (p.Arg104His)
dbSNP gnomAD v2 gnomAD v4
2g.25161578_25161593delCA1239227850POMCc.296_311del (p.Gly99AlafsTer?)
dbSNP gnomAD v4
2g.25161574_25161635delCA2658163201POMCc.250_311del (p.Trp84ArgfsTer14)
gnomAD v4
2g.25161575G>ACA1555323POMCc.310C>T (p.Arg104Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.25161575G>CCA1555322POMCc.310C>G (p.Arg104Gly)
dbSNP ExAC gnomAD v4
2g.25161575G=CA1239227858POMCc.310C= (p.Arg104=)
2g.25161575G>TCA346067328POMCc.310C>A (p.Arg104Ser)
ClinVar gnomAD v4
2g.25161576C>ACA346067329POMCc.309G>T (p.Lys103Asn)
gnomAD v4
2g.25161576C>GCA346067330POMCc.309G>C (p.Lys103Asn)
2g.25161576C>TCA425353585POMCc.309G>A (p.Lys103=)
2g.25161577T>ACA346067331POMCc.308A>T (p.Lys103Met)
2g.25161577T>CCA346067332POMCc.308A>G (p.Lys103Arg)
2g.25161577T>GCA346067333POMCc.308A>C (p.Lys103Thr)
2g.25161578T>ACA346067334POMCc.307A>T (p.Lys103Ter)
2g.25161578T>CCA346067335POMCc.307A>G (p.Lys103Glu)
2g.25161578T>GCA346067336POMCc.307A>C (p.Lys103Gln)
dbSNP
2g.25161578T=CA1239227864POMCc.307A= (p.Lys103=)
2g.25161579C>ACA346067337POMCc.306G>T (p.Gln102His)
gnomAD v4
2g.25161579C=CA1239227870POMCc.306G= (p.Gln102=)
2g.25161579C>GCA346067338POMCc.306G>C (p.Gln102His)
2g.25161579C>TCA425353591POMCc.306G>A (p.Gln102=)
dbSNP gnomAD v3 gnomAD v4
2g.25161584_25161599dupCA767173506POMCc.291_306dup (p.Lys103GlnfsTer21)
dbSNP gnomAD v3 gnomAD v4
2g.25161580T>ACA346067339POMCc.305A>T (p.Gln102Leu)
gnomAD v4
2g.25161580T>CCA346067340POMCc.305A>G (p.Gln102Arg)
gnomAD v4
2g.25161580T>GCA346067341POMCc.305A>C (p.Gln102Pro)
dbSNP
2g.25161580T=CA1239227876POMCc.305A= (p.Gln102=)
2g.25161581G>ACA346067342POMCc.304C>T (p.Gln102Ter)
gnomAD v4
2g.25161581G>CCA346067343POMCc.304C>G (p.Gln102Glu)
dbSNP gnomAD v2 gnomAD v4
2g.25161581G=CA1239227883POMCc.304C= (p.Gln102=)
2g.25161581G>TCA346067344POMCc.304C>A (p.Gln102Lys)
gnomAD v4
2g.25161581_25161582delinsGCCA1239227881POMCc.303_304delinsGC (p.Gly101=)
2g.25161582C>ACA425353596POMCc.303G>T (p.Gly101=)
2g.25161582C=CA1239227887POMCc.303G= (p.Gly101=)
2g.25161582C>GCA425353595POMCc.303G>C (p.Gly101=)
2g.25161582C>TCA425353594POMCc.303G>A (p.Gly101=)
dbSNP gnomAD v4
2g.25161584delCA531760852POMCc.303del (p.Gln102ArgfsTer?)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161583C>ACA346067346POMCc.302G>T (p.Gly101Val)
gnomAD v4
2g.25161583C>GCA346067347POMCc.302G>C (p.Gly101Ala)
2g.25161583C>TCA346067345POMCc.302G>A (p.Gly101Glu)
gnomAD v4
2g.25161583_25161584insGTGCGCCGCA2749203940POMCc.301_302insCGGCGCAC (p.Gly101AlafsTer?)
2g.25161584C>ACA346067349POMCc.301G>T (p.Gly101Trp)
gnomAD v4
2g.25161584C>GCA346067348POMCc.301G>C (p.Gly101Arg)
gnomAD v4
2g.25161584C>TCA346067350POMCc.301G>A (p.Gly101Arg)
gnomAD v4
2g.25161585T>ACA425353602POMCc.300A>T (p.Ala100=)
2g.25161585T>CCA425353603POMCc.300A>G (p.Ala100=)
gnomAD v4
2g.25161585T>GCA425353604POMCc.300A>C (p.Ala100=)
2g.25161585T=CA1239227891POMCc.300A= (p.Ala100=)
2g.25161585_25161586insTCCA531760853POMCc.299_300insGA (p.Gly101LysfsTer?)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161586G>ACA346067351POMCc.299C>T (p.Ala100Val)
2g.25161586G>CCA1555324POMCc.299C>G (p.Ala100Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161586G=CA1239227897POMCc.299C= (p.Ala100=)
2g.25161586G>TCA43684842POMCc.299C>A (p.Ala100Glu)
dbSNP gnomAD v4
2g.25161586_25161587insGCCGCTGCTCA645515100POMCc.298_299insAGCAGCGGC (p.Ala100delinsGluGlnArgPro)
COSMIC
2g.25161587C>ACA346067352POMCc.298G>T (p.Ala100Ser)
dbSNP gnomAD v4
2g.25161587C=CA1239227908POMCc.298G= (p.Ala100=)
2g.25161587C>GCA346067353POMCc.298G>C (p.Ala100Pro)
2g.25161587C>TCA1555328POMCc.298G>A (p.Ala100Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.25161587_25161596delinsCGCCGCTGCTCA1239227917POMCc.289_298delinsAGCAGCGGCG (p.Ser97=)
2g.25161587_25161588insTCA43684874POMCc.297_298insA (p.Ala100SerfsTer19)
ClinVar dbSNP
2g.25161587_25161588insCGCTGCTCA1028505401POMCc.297_298insAGCAGCG (p.Ala100SerfsTer21)
dbSNP gnomAD v3 gnomAD v4
2g.25161587_25161588insACCGCTGCTCA2576693514POMCc.297_298insAGCAGCGGT (p.Gly99_Ala100insSerSerGly)
2g.25161588G>ACA425353615POMCc.297C>T (p.Gly99=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161588G>CCA425353614POMCc.297C>G (p.Gly99=)
dbSNP
2g.25161588G=CA1239227957POMCc.297C= (p.Gly99=)
2g.25161588G>TCA1555329POMCc.297C>A (p.Gly99=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161588_25161589delinsGCCA1239227965POMCc.296_297delinsGC (p.Gly99=)
2g.25161590_25161591insACTGCTGCCCA1239227959POMCc.297_298insAGCAGTGGC (p.Gly99_Ala100insSerSerGly)
dbSNP
2g.25161596_25161597insTCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTCA2658163202POMCc.297_298insAGCAGCGGCAGCAGCGGCAGCAGCGGAAGCAGCGGC (p.Gly99_Ala100insSerSerGlySerSerGlySerSerGlySerSerGly)
gnomAD v4
2g.25161598_25161599insTGCCGCTGCTGCCA2594344357POMCc.297_298insAGCAGCAGCGGC (p.Gly99_Ala100insSerSerSerGly)
gnomAD v3 gnomAD v4
2g.25161607_25161608insCGCTGCTGCCGCTGCTGCCGCTGCTGCCA531760854POMCc.297_298insAGCAGCGGCAGCAGCGGCAGCAGCGGC (p.Gly99_Ala100insSerSerGlySerSerGlySerSerGly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161607_25161608insCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCA1555327POMCc.297_298insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGC (p.Gly99_Ala100insSerSerGlySerSerGlySerSerGlySerSerGly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161607_25161608insCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCA1028505387POMCc.297_298insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGC (p.Gly99_Ala100insSerSerGlySerSerGlySerSerGlySerSerGlySerSerGly)
dbSNP gnomAD v3 gnomAD v4
2g.25161607_25161608insCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCA1028505394POMCc.297_298insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGC (p.Gly99_Ala100insSerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGly)
dbSNP gnomAD v3 gnomAD v4
2g.25161607_25161608insCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCA531760857POMCc.297_298insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGC (p.Gly99_Ala100insSerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161607_25161608insCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCA531760856POMCc.297_298insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGC (p.Gly99_Ala100insSerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161607_25161608insCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGATGCCGCTGCTGCCGCTGCTGCCA2749203941POMCc.297_298insATCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGC (p.Gly99_Ala100insIleSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGly)
2g.25161607_25161608insCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCA531760855POMCc.297_298insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGC (p.Gly99_Ala100insSerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGly)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161607_25161608insCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCA1028505393POMCc.297_298insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGC (p.Gly99_Ala100insSerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGly)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.25161607_25161608insCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCA1028505392POMCc.297_298insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGC (p.Gly99_Ala100insSerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGly)
dbSNP gnomAD v3 gnomAD v4
2g.25161607_25161608insCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCA1028505391POMCc.297_298insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGC (p.Gly99_Ala100insSerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGly)
dbSNP gnomAD v3 gnomAD v4
2g.25161599_25161607dupCA208377POMCc.289_297dup (p.Gly99_Ala100insSerSerGly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.25161590_25161607dupCA1555326POMCc.280_297dup (p.Gly99_Ala100insSerSerGlySerSerGly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161599_25161607delCA1555325POMCc.289_297del (p.Ser97_Gly99del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161588_25161589insGCCGCTGCTCA645515101POMCc.296_297insAGCAGCGGC (p.Gly99_Ala100insAlaAlaAla)
COSMIC
2g.25161589C>ACA346067355POMCc.296G>T (p.Gly99Val)
dbSNP gnomAD v2 gnomAD v4
2g.25161589C=CA1239228003POMCc.296G= (p.Gly99=)
2g.25161589C>GCA346067354POMCc.296G>C (p.Gly99Ala)
2g.25161589C>TCA346067356POMCc.296G>A (p.Gly99Asp)
dbSNP
2g.25161590delCA531760858POMCc.296del (p.Gly99AlafsTer?)
dbSNP gnomAD v2 gnomAD v4
2g.25161596_25161597insACCGCTGCTCA1239228001POMCc.296_297insTAGCAGCGG (p.Gly99_Ala100insSerSerGly)
dbSNP gnomAD v4
2g.25161590C>ACA346067357POMCc.295G>T (p.Gly99Cys)
2g.25161590C=CA1239228005POMCc.295G= (p.Gly99=)
2g.25161590C>GCA346067359POMCc.295G>C (p.Gly99Arg)
2g.25161590C>TCA346067358POMCc.295G>A (p.Gly99Ser)
gnomAD v4
2g.25161597_25161598insTCGCTGCTGCA2699004435POMCc.295_296insACAGCAGCG (p.Ser98_Gly99insAspSerSer)
dbSNP
2g.25161591G>ACA43684888POMCc.294C>T (p.Ser98=)
dbSNP gnomAD v4
2g.25161591G>CCA346067360POMCc.294C>G (p.Ser98Arg)
2g.25161591G=CA1239228011POMCc.294C= (p.Ser98=)
2g.25161591G>TCA346067361POMCc.294C>A (p.Ser98Arg)
gnomAD v4
2g.25161598_25161599insAGCTGCTGCCA1239228010POMCc.294_295insTGCAGCAGC (p.Ser98_Gly99insCysSerSer)
dbSNP
2g.25161598_25161599insTGCTGCTGCCA2698825094POMCc.294_295insAGCAGCAGC (p.Ser98_Gly99insSerSerSer)
dbSNP
2g.25161593_25161598dupCA2576693515POMCc.289_294dup (p.Ser98_Gly99insSerSer)
2g.25161596_25161598delCA2576693516POMCc.292_294del (p.Ser98del)
gnomAD v4
2g.25161599_25161610dupCA2658163203POMCc.283_294dup (p.Ser98_Gly99insSerGlySerSer)
gnomAD v4
2g.25161599_25161610delCA2576693517POMCc.283_294del (p.Ser95_Ser98del)
2g.25161592C>ACA346067362POMCc.293G>T (p.Ser98Ile)
2g.25161592C>GCA346067364POMCc.293G>C (p.Ser98Thr)
gnomAD v4
2g.25161592C>TCA346067363POMCc.293G>A (p.Ser98Asn)
gnomAD v4
2g.25161592_25161593insCGCTGCCTCCA891862731POMCc.293_294insAGGCAGCGG (p.Ser98delinsArgGlySerGly)
ClinVar dbSNP
2g.25161593T>ACA346067365POMCc.292A>T (p.Ser98Cys)
2g.25161593T>CCA346067366POMCc.292A>G (p.Ser98Gly)
dbSNP
2g.25161593T>GCA346067367POMCc.292A>C (p.Ser98Arg)
dbSNP gnomAD v2 gnomAD v4
2g.25161593T=CA1239228024POMCc.292A= (p.Ser98=)
2g.25161593_25161599delinsTGCTGCCCA1239228026POMCc.286_292delinsGGCAGCA (p.Gly96=)
2g.25161594G>ACA1555330POMCc.291C>T (p.Ser97=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.25161594G>CCA346067368POMCc.291C>G (p.Ser97Arg)
2g.25161594G=CA1239228037POMCc.291C= (p.Ser97=)
2g.25161594G>TCA346067369POMCc.291C>A (p.Ser97Arg)
gnomAD v4
2g.25161599_25161604dupCA1239228035POMCc.286_291dup (p.Ser97_Ser98insGlySer)
dbSNP gnomAD v4
2g.25161599_25161604delCA1239228034POMCc.286_291del (p.Gly96_Ser97del)
dbSNP
2g.25161607_25161608insCGCTGCCGCTGCTGCCA1239228036POMCc.291_292insGGCAGCAGCGGCAGC (p.Ser97_Ser98insGlySerSerGlySer)
dbSNP
2g.25161595C>ACA346067370POMCc.290G>T (p.Ser97Ile)
gnomAD v4
2g.25161595C=CA1239228042POMCc.290G= (p.Ser97=)
2g.25161595C>GCA346067371POMCc.290G>C (p.Ser97Thr)
gnomAD v4
2g.25161595C>TCA1555331POMCc.290G>A (p.Ser97Asn)
dbSNP ExAC gnomAD v4
2g.25161596T>ACA346067372POMCc.289A>T (p.Ser97Cys)
2g.25161596T>CCA346067373POMCc.289A>G (p.Ser97Gly)
dbSNP
2g.25161596T>GCA1555332POMCc.289A>C (p.Ser97Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.25161596T=CA1239228048POMCc.289A= (p.Ser97=)
2g.25161603_25161604insTTGCCGCTGCA2699004454POMCc.289_290insACAGCGGCA (p.Gly96_Ser97insAsnSerGly)
dbSNP
2g.25161607_25161608insCGCTGCTGCTGCTGTTGCCGCTGCTGCCA2658163204POMCc.289_290insACAGCAGCAGCAGCGGCAGCAGCGGCA (p.Gly96_Ser97insAsnSerSerSerSerGlySerSerGly)
gnomAD v4
2g.25161599_25161616dupCA1239228046POMCc.272_289dup (p.Gly96_Ser97insAsnSerSerSerSerGly)
dbSNP
2g.25161597G>ACA425353625POMCc.288C>T (p.Gly96=)
gnomAD v4
2g.25161597G>CCA425353623POMCc.288C>G (p.Gly96=)
2g.25161597G>TCA425353624POMCc.288C>A (p.Gly96=)
2g.25161598C>ACA346067376POMCc.287G>T (p.Gly96Val)
2g.25161598C=CA1239228056POMCc.287G= (p.Gly96=)
2g.25161598C>GCA346067374POMCc.287G>C (p.Gly96Ala)
2g.25161598C>TCA346067375POMCc.287G>A (p.Gly96Asp)
gnomAD v4
2g.25161599C>ACA1555334POMCc.286G>T (p.Gly96Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161599C=CA1239228063POMCc.286G= (p.Gly96=)
2g.25161599C>GCA346067377POMCc.286G>C (p.Gly96Arg)
gnomAD v4
2g.25161599C>TCA1555335POMCc.286G>A (p.Gly96Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161599_25161602delinsCGCTCA1239228067POMCc.283_286delinsAGCG (p.Ser95=)
2g.25161599_25161613dupCA531760864POMCc.272_286dup (p.Ser95_Gly96insAspSerSerSerSer)
dbSNP gnomAD v2 gnomAD v4
2g.25161600G>ACA43684909POMCc.285C>T (p.Ser95=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161600G>CCA346067378POMCc.285C>G (p.Ser95Arg)
gnomAD v4
2g.25161600G=CA1239228086POMCc.285C= (p.Ser95=)
2g.25161600G>TCA346067379POMCc.285C>A (p.Ser95Arg)
gnomAD v4
2g.25161607_25161608insCGCTGCTGCTGCTGCCA2658163206POMCc.285_286insAGCAGCGGCAGCAGC (p.Ser95_Gly96insSerSerGlySerSer)
gnomAD v4
2g.25161607_25161608insCGCTGCTGCTGCTGCTGCCA531760866POMCc.285_286insAGCAGCAGCGGCAGCAGC (p.Ser95_Gly96insSerSerSerGlySerSer)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161607_25161608insCGCTGCTGCCGCTGCTGCTGCCA1239228087POMCc.285_286insAGCGGCAGCAGCGGCAGCAGC (p.Ser95_Gly96insSerGlySerSerGlySerSer)
dbSNP
2g.25161607_25161608insCGCTGCTGCCGCTGCTGCTGCTGCTGCCA916493926POMCc.285_286insAGCAGCAGCGGCAGCAGCGGCAGCAGC (p.Ser95_Gly96insSerSerSerGlySerSerGlySerSer)
dbSNP gnomAD v3 gnomAD v4
2g.25161607_25161608insCGCTGCTGCCGCTGCTGCCGCTGCTGCTGCTGCTGCCA531760867POMCc.285_286insAGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGC (p.Ser95_Gly96insSerSerSerGlySerSerGlySerSerGlySerSer)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161607_25161608insCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCTGCTGCTGCCA1028505423POMCc.285_286insAGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGC (p.Ser95_Gly96insSerSerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSer)
gnomAD v3 gnomAD v4
2g.25161610_25161612dupCA767173635POMCc.283_285dup (p.Ser95_Gly96insSer)
dbSNP gnomAD v3 gnomAD v4
2g.25161607_25161612dupCA2658163207POMCc.280_285dup (p.Ser95_Gly96insSerSer)
gnomAD v4
2g.25161604_25161612dupCA1555333POMCc.277_285dup (p.Ser95_Gly96insSerSerSer)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161610_25161612delCA346067380POMCc.283_285del (p.Ser95del)
dbSNP gnomAD v2 gnomAD v4
2g.25161604_25161612delCA2658163205POMCc.277_285del (p.Ser93_Ser95del)
gnomAD v4
2g.25161602_25161619dupCA531760865POMCc.268_285dup (p.Ser95_Gly96insArgAsnSerSerSerSer)
dbSNP gnomAD v2 gnomAD v4
2g.25161601C>ACA346067381POMCc.284G>T (p.Ser95Ile)
gnomAD v4
2g.25161601C=CA1239228099POMCc.284G= (p.Ser95=)
2g.25161601C>GCA346067382POMCc.284G>C (p.Ser95Thr)
2g.25161601C>TCA1555336POMCc.284G>A (p.Ser95Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161601_25161602delinsGGCA2580066133POMCc.283_284delinsCC (p.Ser95Pro)
ClinVar
2g.25161602_25161603insACTCA2658163208POMCc.284_285insTAG (p.Ser95_Gly96insSer)
gnomAD v4
2g.25161602T>ACA346067384POMCc.283A>T (p.Ser95Cys)
2g.25161602T>CCA1555337POMCc.283A>G (p.Ser95Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161602T>GCA346067383POMCc.283A>C (p.Ser95Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161602T=CA1239228106POMCc.283A= (p.Ser95=)
2g.25161603G>ACA1555338POMCc.282C>T (p.Ser94=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161603G>CCA346067385POMCc.282C>G (p.Ser94Arg)
dbSNP gnomAD v3 gnomAD v4
2g.25161603G=CA1239228119POMCc.282C= (p.Ser94=)
2g.25161603G>TCA346067386POMCc.282C>A (p.Ser94Arg)
gnomAD v4
2g.25161603dupCA916493927POMCc.282dup (p.Ser95GlnfsTer24)
dbSNP
2g.25161607_25161608insCGCTGCCA425179804POMCc.282_283insGGCAGC (p.Ser94_Ser95insGlySer)
gnomAD v4
2g.25161607_25161608insCGCTGCTGCTGCTGTTGCGGCTGCCA2658163209POMCc.282_283insCGCAACAGCAGCAGCAGCGGCAGC (p.Ser94_Ser95insArgAsnSerSerSerSerGlySer)
gnomAD v4
2g.25161605_25161619delCA2658163210POMCc.268_282del (p.Arg90_Ser94del)
gnomAD v4
2g.25161603_25161604insACA916493930POMCc.281_282insT (p.Ser95GlnfsTer24)
dbSNP
2g.25161604C>ACA346067387POMCc.281G>T (p.Ser94Ile)
2g.25161604C=CA1239228126POMCc.281G= (p.Ser94=)
2g.25161604C>GCA346067388POMCc.281G>C (p.Ser94Thr)
2g.25161604C>TCA346067389POMCc.281G>A (p.Ser94Asn)
dbSNP gnomAD v4
2g.25161604_25161605insCGCTACCA2658163211POMCc.281_282insTAGCGG (p.Ser94_Ser95insSerGly)
gnomAD v4
2g.25161605T>ACA346067390POMCc.280A>T (p.Ser94Cys)
2g.25161605T>CCA1555340POMCc.280A>G (p.Ser94Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161605T>GCA346067391POMCc.280A>C (p.Ser94Arg)
gnomAD v4
2g.25161605T=CA1239228135POMCc.280A= (p.Ser94=)
2g.25161607_25161608insCGCTGCTGCTGCTGTTGCCA916493931POMCc.280_281insACAGCAGCAGCAGCGGCA (p.Ser93_Ser94insAsnSerSerSerSerGly)
dbSNP
2g.25161608_25161616dupCA1555339POMCc.272_280dup (p.Ser93_Ser94insAsnSerSer)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.25161606G>ACA425179814POMCc.279C>T (p.Ser93=)
gnomAD v4
2g.25161606G>CCA346067392POMCc.279C>G (p.Ser93Arg)
2g.25161606G>TCA346067393POMCc.279C>A (p.Ser93Arg)
gnomAD v4
2g.25161607_25161608insCGCCA531358424POMCc.279_280insGGC (p.Ser93_Ser94insGly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161607_25161608insCGCTGCCGCCA2698797720POMCc.279_280insGGCAGCGGC (p.Ser93_Ser94insGlySerGly)
dbSNP
2g.25161607_25161608insCGCTGCGGCCA2658163212POMCc.279_280insCGCAGCGGC (p.Ser93_Ser94insArgSerGly)
gnomAD v4
2g.25161607_25161608insCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCCA1028505444POMCc.279_280insGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGC (p.Ser93_Ser94insGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGly)
dbSNP gnomAD v3 gnomAD v4
2g.25161607_25161608insCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCAGCCA1028505445POMCc.279_280insTGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGC (p.Ser93_Ser94insCysSerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGly)
gnomAD v3 gnomAD v4
2g.25161607C>ACA346067396POMCc.278G>T (p.Ser93Ile)
2g.25161607C=CA1239228140POMCc.278G= (p.Ser93=)
2g.25161607C>GCA346067394POMCc.278G>C (p.Ser93Thr)
2g.25161607C>TCA346067395POMCc.278G>A (p.Ser93Asn)
gnomAD v4
2g.25161607_25161608insCGCTGCTACCA2658163213POMCc.278_279insTAGCAGCGG (p.Ser93_Ser94insSerSerGly)
gnomAD v4
2g.25161607_25161608insCGCTGCTGACA1239228145POMCc.277_278insTCAGCAGCG (p.Ser93delinsIleSerSerGly)
dbSNP gnomAD v4
2g.25161608T>ACA346067397POMCc.277A>T (p.Ser93Cys)
gnomAD v4
2g.25161608T>CCA1555341POMCc.277A>G (p.Ser93Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.25161608T>GCA346067398POMCc.277A>C (p.Ser93Arg)
2g.25161608T=CA1239228146POMCc.277A= (p.Ser93=)
2g.25161609G>ACA425179824POMCc.276C>T (p.Ser92=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161609G>CCA346067399POMCc.276C>G (p.Ser92Arg)
dbSNP
2g.25161609G=CA1239228149POMCc.276C= (p.Ser92=)
2g.25161609G>TCA346067400POMCc.276C>A (p.Ser92Arg)
2g.25161612_25161613insCCGCTGCA531358426POMCc.276_277insGGCAGC (p.Ser92_Ser93insGlySer)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161612_25161613insCCGCTGCTGCCGCTGCA2658163215POMCc.276_277insGGCAGCAGCGGCAGC (p.Ser92_Ser93insGlySerSerGlySer)
gnomAD v4
2g.25161612_25161613insCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCA2658163216POMCc.276_277insGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGC (p.Ser92_Ser93insGlySerSerGlySerSerGlySerSerGlySer)
gnomAD v4
2g.25161612_25161613insCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCA2658163214POMCc.276_277insGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGC (p.Ser92_Ser93insGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySer)
gnomAD v4
2g.25161610C>ACA346067401POMCc.275G>T (p.Ser92Ile)
gnomAD v4
2g.25161610C>GCA346067402POMCc.275G>C (p.Ser92Thr)
2g.25161610C>TCA346067403POMCc.275G>A (p.Ser92Asn)
gnomAD v4
2g.25161610_25161611insCGCTGCTGCTCCCA1028505456POMCc.275_276insGAGCAGCAGCGG (p.Ser92delinsArgSerSerSerGly)
dbSNP gnomAD v3 gnomAD v4
2g.25161611T>ACA346067404POMCc.274A>T (p.Ser92Cys)
2g.25161611T>CCA346067405POMCc.274A>G (p.Ser92Gly)
dbSNP gnomAD v4
2g.25161611T>GCA346067406POMCc.274A>C (p.Ser92Arg)
2g.25161611T=CA1239228155POMCc.274A= (p.Ser92=)
2g.25161612G>ACA1555342POMCc.273C>T (p.Asn91=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161612G>CCA346067408POMCc.273C>G (p.Asn91Lys)
gnomAD v4
2g.25161612G=CA1239228160POMCc.273C= (p.Asn91=)
2g.25161612G>TCA346067407POMCc.273C>A (p.Asn91Lys)
gnomAD v4
2g.25161612_25161613insCTGCCGCA531358428POMCc.273_274insGGCAGC (p.Asn91_Ser92insGlySer)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161612_25161613insCCGCCA2658163217POMCc.272_273insGCGG (p.Asn91LysfsTer29)
gnomAD v4
2g.25161612_25161613insCTGCTTCA531358432POMCc.272_273insAAGCAG (p.Asn91delinsLysSerSer)
gnomAD v2
2g.25161613T>ACA346067409POMCc.272A>T (p.Asn91Ile)
2g.25161613T>CCA1555343POMCc.272A>G (p.Asn91Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161613T>GCA346067410POMCc.272A>C (p.Asn91Thr)
2g.25161613T=CA1239228165POMCc.272A= (p.Asn91=)
2g.25161613_25161614insGCCA2658163218POMCc.271_272insGC (p.Asn91SerfsTer?)
gnomAD v4
2g.25161614T>ACA346067411POMCc.271A>T (p.Asn91Tyr)
2g.25161614T>CCA346067412POMCc.271A>G (p.Asn91Asp)
gnomAD v4
2g.25161614T>GCA346067413POMCc.271A>C (p.Asn91His)
ClinVar
2g.25161615G>ACA425179850POMCc.270C>T (p.Arg90=)
gnomAD v4
2g.25161615G>CCA425179846POMCc.270C>G (p.Arg90=)
2g.25161615G=CA1239228174POMCc.270C= (p.Arg90=)
2g.25161615G>TCA425179848POMCc.270C>A (p.Arg90=)
gnomAD v4
2g.25161616C>ACA346067414POMCc.269G>T (p.Arg90Leu)
gnomAD v4
2g.25161616C=CA1239228178POMCc.269G= (p.Arg90=)
2g.25161616C>GCA346067415POMCc.269G>C (p.Arg90Pro)
gnomAD v4
2g.25161616C>TCA346067416POMCc.269G>A (p.Arg90His)
dbSNP gnomAD v3 gnomAD v4
2g.25161616dupCA531358435POMCc.269dup (p.Asn91GlnfsTer28)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161616_25161617insTCA531358437POMCc.268_269insA (p.Arg90GlnfsTer29)
dbSNP gnomAD v2 gnomAD v4
2g.25161617G>ACA1555344POMCc.268C>T (p.Arg90Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161617G>CCA346067417POMCc.268C>G (p.Arg90Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161617G=CA1239228184POMCc.268C= (p.Arg90=)
2g.25161617G>TCA346067418POMCc.268C>A (p.Arg90Ser)
dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.25161617_25161618insCTGTTCA2658163219POMCc.267_268insAACAG (p.Arg90AsnfsTer?)
gnomAD v4
2g.25161617_25161618insCTGCTGCCGCTCA2658163220POMCc.267_268insAGCGGCAGCAG (p.Arg90SerfsTer?)
gnomAD v4
2g.25161617_25161618insCTGCTGCCGCTGCTGCCGCTCA1028505487POMCc.267_268insAGCGGCAGCAGCGGCAGCAG (p.Arg90SerfsTer?)
dbSNP gnomAD v3 gnomAD v4
2g.25161617_25161618insCTGCTGCCGCTGCTGCCGCTGCTGCCGCTCA531358438POMCc.267_268insAGCGGCAGCAGCGGCAGCAGCGGCAGCAG (p.Arg90SerfsTer?)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161617_25161618insCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTCA1028505485POMCc.267_268insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAG (p.Arg90SerfsTer?)
dbSNP gnomAD v3 gnomAD v4
2g.25161617_25161618insCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTCA1028505474POMCc.267_268insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAG (p.Arg90SerfsTer?)
gnomAD v3 gnomAD v4
2g.25161617_25161618insCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTCA531358439POMCc.267_268insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAG (p.Arg90SerfsTer?)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161617_25161618insCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTCA1028505482POMCc.267_268insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAG (p.Arg90SerfsTer?)
dbSNP gnomAD v3 gnomAD v4
2g.25161617_25161618insCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTCA1028505481POMCc.267_268insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAG (p.Arg90SerfsTer?)
dbSNP gnomAD v3 gnomAD v4
2g.25161617_25161618insCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTCA2658163221POMCc.267_268insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAG (p.Arg90SerfsTer?)
gnomAD v4
2g.25161617_25161618insCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTCA1028505476POMCc.267_268insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAG (p.Arg90SerfsTer?)
dbSNP gnomAD v3 gnomAD v4
2g.25161618G>ACA425179857POMCc.267C>T (p.Arg89=)
2g.25161618G>CCA425179859POMCc.267C>G (p.Arg89=)
2g.25161618G>TCA425179861POMCc.267C>A (p.Arg89=)
gnomAD v4
2g.25161619C>ACA346067419POMCc.266G>T (p.Arg89Leu)
2g.25161619C=CA1239228195POMCc.266G= (p.Arg89=)
2g.25161619C>GCA346067420POMCc.266G>C (p.Arg89Pro)
dbSNP gnomAD v2 gnomAD v4
2g.25161619C>TCA346067421POMCc.266G>A (p.Arg89His)
gnomAD v4 COSMIC
2g.25161619_25161620insTGCTGCCGCTGCTGCCGCTCA2658163227POMCc.265_266insAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer36)
gnomAD v4
2g.25161619_25161620insTGCTGCCGCTGCTGCCGCTGCTCA1028505498POMCc.265_266insAGCAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer37)
gnomAD v3 gnomAD v4
2g.25161619_25161620insTGCTGCCGCTGCTGCCGCTGCTGCCGCTCA2658163226POMCc.265_266insAGCGGCAGCAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer39)
gnomAD v4
2g.25161619_25161620insTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTCA2658163225POMCc.265_266insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer40)
gnomAD v4
2g.25161619_25161620insTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTCA2658163222POMCc.265_266insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer42)
gnomAD v4
2g.25161619_25161620insTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTCA2658163224POMCc.265_266insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer43)
gnomAD v4
2g.25161619_25161620insTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTCA1028505497POMCc.265_266insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer45)
gnomAD v3 gnomAD v4
2g.25161619_25161620insTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTCA1028505493POMCc.265_266insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer46)
gnomAD v3 gnomAD v4
2g.25161619_25161620insTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTCA1028505499POMCc.265_266insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer48)
gnomAD v3 gnomAD v4
2g.25161619_25161620insTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTCA1028505495POMCc.265_266insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer49)
gnomAD v3 gnomAD v4
2g.25161619_25161620insTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTCA1028505492POMCc.265_266insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer57)
gnomAD v3 gnomAD v4
2g.25161619_25161620insTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTCA2658163223POMCc.265_266insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer58)
gnomAD v4
2g.25161620G>ACA346067425POMCc.265C>T (p.Arg89Cys)
gnomAD v4 COSMIC
2g.25161620G>CCA346067424POMCc.265C>G (p.Arg89Gly)
2g.25161620G=CA1239228200POMCc.265C= (p.Arg89=)
2g.25161620G>TCA346067423POMCc.265C>A (p.Arg89Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161621dupCA346067422POMCc.265dup (p.Arg89ProfsTer30)
dbSNP
2g.25161621G>ACA425179874POMCc.264C>T (p.Gly88=)
dbSNP gnomAD v4
2g.25161621G>CCA425179871POMCc.264C>G (p.Gly88=)
gnomAD v4
2g.25161621G=CA1239228204POMCc.264C= (p.Gly88=)
2g.25161621G>TCA425179873POMCc.264C>A (p.Gly88=)
gnomAD v4
2g.25161622C>ACA346067426POMCc.263G>T (p.Gly88Val)
2g.25161622C=CA1239228208POMCc.263G= (p.Gly88=)
2g.25161622C>GCA346067427POMCc.263G>C (p.Gly88Ala)
dbSNP
2g.25161622C>TCA346067428POMCc.263G>A (p.Gly88Asp)
2g.25161622_25161623insTGCA531358440POMCc.262_263insCA (p.Gly88AlafsTer?)
dbSNP gnomAD v2
2g.25161622_25161623insTGCCGCTGCTGCCGCA2658163228POMCc.262_263insCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
gnomAD v4
2g.25161622_25161623insTGCCGCTGCTGCCGCTGCA2658163229POMCc.262_263insCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
gnomAD v4
2g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCA2658163230POMCc.262_263insCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
gnomAD v4
2g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCA2658163231POMCc.262_263insCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
gnomAD v4
2g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCA1028505510POMCc.262_263insCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
dbSNP gnomAD v3 gnomAD v4
2g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCA1028505513POMCc.262_263insCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
gnomAD v3 gnomAD v4
2g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCA2658163232POMCc.262_263insCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
gnomAD v4
2g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCA1028505515POMCc.262_263insCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
gnomAD v3 gnomAD v4
2g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCA1028505518POMCc.262_263insCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
dbSNP gnomAD v3 gnomAD v4
2g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCA1028505521POMCc.262_263insCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
gnomAD v3 gnomAD v4
2g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCA2749203942POMCc.262_263insCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
2g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCA2749203943POMCc.262_263insCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
2g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCA1028505523POMCc.262_263insCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
dbSNP gnomAD v3 gnomAD v4
2g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCA1028505531POMCc.262_263insCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
gnomAD v3 gnomAD v4
2g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCA1028505532POMCc.262_263insCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
gnomAD v3 gnomAD v4
2g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCA1028505536POMCc.262_263insCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
gnomAD v3 gnomAD v4
2g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCA1028505537POMCc.262_263insCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
dbSNP gnomAD v3 gnomAD v4
2g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCA1028505538POMCc.262_263insCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
dbSNP gnomAD v3 gnomAD v4
2g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCA531358441POMCc.262_263insCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
gnomAD v2 gnomAD v3 gnomAD v4
2g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCA2658163233POMCc.262_263insCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
gnomAD v4
2g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCA2658163234POMCc.262_263insCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
gnomAD v4
2g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCA2658163235POMCc.262_263insCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
gnomAD v4
2g.25161623C>ACA346067429POMCc.262G>T (p.Gly88Cys)
2g.25161623C=CA1239228216POMCc.262G= (p.Gly88=)
2g.25161623C>GCA346067430POMCc.262G>C (p.Gly88Arg)
dbSNP gnomAD v2 gnomAD v4
2g.25161623C>TCA346067431POMCc.262G>A (p.Gly88Ser)
dbSNP
2g.25161624G>ACA425179883POMCc.261C>T (p.Phe87=)
dbSNP gnomAD v3 gnomAD v4
2g.25161624G>CCA346067432POMCc.261C>G (p.Phe87Leu)
2g.25161624G=CA1239228224POMCc.261C= (p.Phe87=)
2g.25161624G>TCA1555345POMCc.261C>A (p.Phe87Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161624_25161625delinsGACA1239228227POMCc.260_261delinsTC (p.Phe87=)
2g.25161625A>CCA346067434POMCc.260T>G (p.Phe87Cys)
gnomAD v4
2g.25161625A>GCA346067435POMCc.260T>C (p.Phe87Ser)
2g.25161625A>TCA346067433POMCc.260T>A (p.Phe87Tyr)
2g.25161626delCA767173724POMCc.260del (p.Phe87SerfsTer?)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.25161626A>CCA346067436POMCc.259T>G (p.Phe87Val)
2g.25161626A>GCA346067437POMCc.259T>C (p.Phe87Leu)
gnomAD v4
2g.25161626A>TCA346067438POMCc.259T>A (p.Phe87Ile)
2g.25161627T>ACA425179892POMCc.258A>T (p.Arg86=)
2g.25161627T>CCA425179893POMCc.258A>G (p.Arg86=)
2g.25161627T>GCA425179895POMCc.258A>C (p.Arg86=)
2g.25161628C>ACA346067439POMCc.257G>T (p.Arg86Leu)
gnomAD v4
2g.25161628C=CA1239228235POMCc.257G= (p.Arg86=)
2g.25161628C>GCA346067440POMCc.257G>C (p.Arg86Pro)
gnomAD v4
2g.25161628C>TCA346067441POMCc.257G>A (p.Arg86Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161629G>ACA346067442POMCc.256C>T (p.Arg86Ter)
dbSNP gnomAD v4
2g.25161629G>CCA346067443POMCc.256C>G (p.Arg86Gly)
dbSNP gnomAD v2 gnomAD v4
2g.25161629G=CA1239228240POMCc.256C= (p.Arg86=)
2g.25161629G>TCA425179901POMCc.256C>A (p.Arg86=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161630G>ACA425179904POMCc.255C>T (p.Asp85=)
dbSNP gnomAD v4
2g.25161630G>CCA1555346POMCc.255C>G (p.Asp85Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161630G=CA1239228242POMCc.255C= (p.Asp85=)
2g.25161630G>TCA346067444POMCc.255C>A (p.Asp85Glu)
2g.25161631T>ACA346067445POMCc.254A>T (p.Asp85Val)
2g.25161631T>CCA346067446POMCc.254A>G (p.Asp85Gly)
dbSNP gnomAD v4
2g.25161631T>GCA346067447POMCc.254A>C (p.Asp85Ala)
2g.25161631T=CA1239228244POMCc.254A= (p.Asp85=)
2g.25161632C>ACA346067450POMCc.253G>T (p.Asp85Tyr)
gnomAD v4
2g.25161632C>GCA346067449POMCc.253G>C (p.Asp85His)
2g.25161632C>TCA346067448POMCc.253G>A (p.Asp85Asn)
2g.25161633C>ACA346067451POMCc.252G>T (p.Trp84Cys)
2g.25161633C=CA1239228249POMCc.252G= (p.Trp84=)
2g.25161633C>GCA346067452POMCc.252G>C (p.Trp84Cys)
gnomAD v4
2g.25161633C>TCA346067453POMCc.252G>A (p.Trp84Ter)
dbSNP gnomAD v2 gnomAD v4
2g.25161634C>ACA346067454POMCc.251G>T (p.Trp84Leu)
2g.25161634C=CA1239228257POMCc.251G= (p.Trp84=)
2g.25161634C>GCA346067455POMCc.251G>C (p.Trp84Ser)
2g.25161634C>TCA1555347POMCc.251G>A (p.Trp84Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161635A=CA1239228270POMCc.250T= (p.Trp84=)
2g.25161635A>CCA346067456POMCc.250T>G (p.Trp84Gly)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161635A>GCA1555348POMCc.250T>C (p.Trp84Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.25161635A>TCA346067457POMCc.250T>A (p.Trp84Arg)
2g.25161636G>ACA425179920POMCc.249C>T (p.Arg83=)
gnomAD v4
2g.25161636G>CCA425179922POMCc.249C>G (p.Arg83=)
2g.25161636G>TCA425179923POMCc.249C>A (p.Arg83=)
2g.25161637C>ACA346067458POMCc.248G>T (p.Arg83Leu)
gnomAD v4
2g.25161637C=CA1239228284POMCc.248G= (p.Arg83=)
2g.25161637C>GCA346067459POMCc.248G>C (p.Arg83Pro)
2g.25161637C>TCA43684950POMCc.248G>A (p.Arg83His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161638G>ACA346067462POMCc.247C>T (p.Arg83Cys)
2g.25161638G>CCA346067461POMCc.247C>G (p.Arg83Gly)
2g.25161638G>TCA346067460POMCc.247C>A (p.Arg83Ser)
2g.25161639G>ACA425179931POMCc.246C>T (p.Phe82=)
dbSNP gnomAD v4
2g.25161639G>CCA346067463POMCc.246C>G (p.Phe82Leu)
2g.25161639G>TCA346067464POMCc.246C>A (p.Phe82Leu)
gnomAD v4
2g.25161640A>CCA346067465POMCc.245T>G (p.Phe82Cys)
2g.25161640A>GCA346067466POMCc.245T>C (p.Phe82Ser)
gnomAD v4
2g.25161640A>TCA346067467POMCc.245T>A (p.Phe82Tyr)
2g.25161641A=CA1239228290POMCc.244T= (p.Phe82=)
2g.25161641A>CCA1555349POMCc.244T>G (p.Phe82Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161641A>GCA346067468POMCc.244T>C (p.Phe82Leu)
2g.25161641A>TCA346067469POMCc.244T>A (p.Phe82Ile)
2g.25161642G>ACA1555350POMCc.243C>T (p.His81=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.25161642G>CCA346067470POMCc.243C>G (p.His81Gln)
2g.25161642G=CA1239228303POMCc.243C= (p.His81=)
2g.25161642G>TCA346067471POMCc.243C>A (p.His81Gln)
2g.25161643T>ACA346067472POMCc.242A>T (p.His81Leu)
gnomAD v4
2g.25161643T>CCA346067473POMCc.242A>G (p.His81Arg)
dbSNP gnomAD v2 gnomAD v4
2g.25161643T>GCA346067474POMCc.242A>C (p.His81Pro)
2g.25161643T=CA1239228307POMCc.242A= (p.His81=)
2g.25161644G>ACA346067477POMCc.241C>T (p.His81Tyr)
gnomAD v4
2g.25161644G>CCA346067475POMCc.241C>G (p.His81Asp)
2g.25161644G>TCA346067476POMCc.241C>A (p.His81Asn)
2g.25161645G>ACA425179951POMCc.240C>T (p.Gly80=)
dbSNP gnomAD v2 gnomAD v4
2g.25161645G>CCA425179952POMCc.240C>G (p.Gly80=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161645G=CA1239228312POMCc.240C= (p.Gly80=)
2g.25161645G>TCA425179954POMCc.240C>A (p.Gly80=)
2g.25161646C>ACA346067478POMCc.239G>T (p.Gly80Val)
gnomAD v4
2g.25161646C>GCA346067479POMCc.239G>C (p.Gly80Ala)
2g.25161646C>TCA346067480POMCc.239G>A (p.Gly80Asp)
gnomAD v4
2g.25161647C>ACA346067481POMCc.238G>T (p.Gly80Cys)
gnomAD v4
2g.25161647C=CA1239228319POMCc.238G= (p.Gly80=)
2g.25161647C>GCA346067482POMCc.238G>C (p.Gly80Arg)
2g.25161647C>TCA346067483POMCc.238G>A (p.Gly80Ser)
dbSNP gnomAD v2 gnomAD v4
2g.25161648C>ACA346067484POMCc.237G>T (p.Met79Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161648C=CA1239228323POMCc.237G= (p.Met79=)
2g.25161648C>GCA346067485POMCc.237G>C (p.Met79Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161648C>TCA346067486POMCc.237G>A (p.Met79Ile)
gnomAD v4
2g.25161649A>CCA346067487POMCc.236T>G (p.Met79Arg)
2g.25161649A>GCA346067488POMCc.236T>C (p.Met79Thr)
2g.25161649A>TCA346067489POMCc.236T>A (p.Met79Lys)
2g.25161649_25161662delCA2576693518POMCc.223_236del (p.Arg75GlyfsTer?)
2g.25161650T>ACA346067492POMCc.235A>T (p.Met79Leu)
2g.25161650T>CCA346067491POMCc.235A>G (p.Met79Val)
2g.25161650T>GCA346067490POMCc.235A>C (p.Met79Leu)
2g.25161651G>ACA425179972POMCc.234C>T (p.Val78=)
2g.25161651G>CCA425179973POMCc.234C>G (p.Val78=)
2g.25161651G=CA1239228327POMCc.234C= (p.Val78=)
2g.25161651G>TCA425179975POMCc.234C>A (p.Val78=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161652A>CCA346067495POMCc.233T>G (p.Val78Gly)
gnomAD v4
2g.25161652A>GCA346067493POMCc.233T>C (p.Val78Ala)
2g.25161652A>TCA346067494POMCc.233T>A (p.Val78Asp)
2g.25161653C>ACA346067496POMCc.232G>T (p.Val78Phe)
gnomAD v4
2g.25161653C>GCA346067497POMCc.232G>C (p.Val78Leu)
2g.25161653C>TCA346067498POMCc.232G>A (p.Val78Ile)
gnomAD v4
2g.25161654G>ACA1555351POMCc.231C>T (p.Tyr77=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161654G>CCA346067499POMCc.231C>G (p.Tyr77Ter)
2g.25161654G=CA1239228329POMCc.231C= (p.Tyr77=)
2g.25161654G>TCA346067500POMCc.231C>A (p.Tyr77Ter)
gnomAD v4

Number of alleles fetched