2 | g.25161574_25161635del | CA2658163201 | POMC | c.250_311del (p.Trp84ArgfsTer14)
| gnomAD v4 |
2 | g.25161602_25161619dup | CA531760865 | POMC | c.268_285dup (p.Ser95_Gly96insArgAsnSerSerSerSer)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161605_25161619del | CA2658163210 | POMC | c.268_282del (p.Arg90_Ser94del)
| gnomAD v4 |
2 | g.25161618G>A | CA425179857 | POMC | c.267C>T (p.Arg89=)
| |
2 | g.25161618G>C | CA425179859 | POMC | c.267C>G (p.Arg89=)
| |
2 | g.25161618G>T | CA425179861 | POMC | c.267C>A (p.Arg89=)
| gnomAD v4 |
2 | g.25161619C>A | CA346067419 | POMC | c.266G>T (p.Arg89Leu)
| |
2 | g.25161619C= | CA1239228195 | POMC | c.266G= (p.Arg89=)
| |
2 | g.25161619C>G | CA346067420 | POMC | c.266G>C (p.Arg89Pro)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161619C>T | CA346067421 | POMC | c.266G>A (p.Arg89His)
| gnomAD v4 COSMIC |
2 | g.25161619_25161620insTGCTGCCGCTGCTGCCGCT | CA2658163227 | POMC | c.265_266insAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer36)
| gnomAD v4 |
2 | g.25161619_25161620insTGCTGCCGCTGCTGCCGCTGCT | CA1028505498 | POMC | c.265_266insAGCAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer37)
| gnomAD v3 gnomAD v4 |
2 | g.25161619_25161620insTGCTGCCGCTGCTGCCGCTGCTGCCGCT | CA2658163226 | POMC | c.265_266insAGCGGCAGCAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer39)
| gnomAD v4 |
2 | g.25161619_25161620insTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCT | CA2658163225 | POMC | c.265_266insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer40)
| gnomAD v4 |
2 | g.25161619_25161620insTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCT | CA2658163222 | POMC | c.265_266insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer42)
| gnomAD v4 |
2 | g.25161619_25161620insTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCT | CA2658163224 | POMC | c.265_266insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer43)
| gnomAD v4 |
2 | g.25161619_25161620insTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCT | CA1028505497 | POMC | c.265_266insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer45)
| gnomAD v3 gnomAD v4 |
2 | g.25161619_25161620insTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCT | CA1028505493 | POMC | c.265_266insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer46)
| gnomAD v3 gnomAD v4 |
2 | g.25161619_25161620insTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCT | CA1028505499 | POMC | c.265_266insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer48)
| gnomAD v3 gnomAD v4 |
2 | g.25161619_25161620insTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCT | CA1028505495 | POMC | c.265_266insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer49)
| gnomAD v3 gnomAD v4 |
2 | g.25161619_25161620insTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCT | CA1028505492 | POMC | c.265_266insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer57)
| gnomAD v3 gnomAD v4 |
2 | g.25161619_25161620insTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCT | CA2658163223 | POMC | c.265_266insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer58)
| gnomAD v4 |
2 | g.25161620G>A | CA346067425 | POMC | c.265C>T (p.Arg89Cys)
| gnomAD v4 COSMIC |
2 | g.25161620G>C | CA346067424 | POMC | c.265C>G (p.Arg89Gly)
| |
2 | g.25161620G= | CA1239228200 | POMC | c.265C= (p.Arg89=)
| |
2 | g.25161620G>T | CA346067423 | POMC | c.265C>A (p.Arg89Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161621dup | CA346067422 | POMC | c.265dup (p.Arg89ProfsTer30)
| dbSNP |
2 | g.25161621G>A | CA425179874 | POMC | c.264C>T (p.Gly88=)
| dbSNP gnomAD v4 |
2 | g.25161621G>C | CA425179871 | POMC | c.264C>G (p.Gly88=)
| gnomAD v4 |
2 | g.25161621G= | CA1239228204 | POMC | c.264C= (p.Gly88=)
| |
2 | g.25161621G>T | CA425179873 | POMC | c.264C>A (p.Gly88=)
| gnomAD v4 |
2 | g.25161622C>A | CA346067426 | POMC | c.263G>T (p.Gly88Val)
| |
2 | g.25161622C= | CA1239228208 | POMC | c.263G= (p.Gly88=)
| |
2 | g.25161622C>G | CA346067427 | POMC | c.263G>C (p.Gly88Ala)
| dbSNP |
2 | g.25161622C>T | CA346067428 | POMC | c.263G>A (p.Gly88Asp)
| |
2 | g.25161622_25161623insTG | CA531358440 | POMC | c.262_263insCA (p.Gly88AlafsTer?)
| dbSNP gnomAD v2 |
2 | g.25161622_25161623insTGCCGCTGCTGCCG | CA2658163228 | POMC | c.262_263insCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
| gnomAD v4 |
2 | g.25161622_25161623insTGCCGCTGCTGCCGCTG | CA2658163229 | POMC | c.262_263insCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
| gnomAD v4 |
2 | g.25161622_25161623insTGCCGCTGCTGCCGCTGCTG | CA2658163230 | POMC | c.262_263insCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
| gnomAD v4 |
2 | g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCG | CA2658163231 | POMC | c.262_263insCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
| gnomAD v4 |
2 | g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTG | CA1028505510 | POMC | c.262_263insCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTG | CA1028505513 | POMC | c.262_263insCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
| gnomAD v3 gnomAD v4 |
2 | g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCG | CA2658163232 | POMC | c.262_263insCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
| gnomAD v4 |
2 | g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTG | CA1028505515 | POMC | c.262_263insCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
| gnomAD v3 gnomAD v4 |
2 | g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTG | CA1028505518 | POMC | c.262_263insCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCG | CA1028505521 | POMC | c.262_263insCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
| gnomAD v3 gnomAD v4 |
2 | g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTG | CA2749203942 | POMC | c.262_263insCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
| |
2 | g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTG | CA2749203943 | POMC | c.262_263insCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
| |
2 | g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTG | CA1028505523 | POMC | c.262_263insCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCG | CA1028505531 | POMC | c.262_263insCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
| gnomAD v3 gnomAD v4 |
2 | g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTG | CA1028505532 | POMC | c.262_263insCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
| gnomAD v3 gnomAD v4 |
2 | g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCG | CA1028505536 | POMC | c.262_263insCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
| gnomAD v3 gnomAD v4 |
2 | g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTG | CA1028505537 | POMC | c.262_263insCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTG | CA1028505538 | POMC | c.262_263insCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTG | CA531358441 | POMC | c.262_263insCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
| gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTG | CA2658163233 | POMC | c.262_263insCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
| gnomAD v4 |
2 | g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTG | CA2658163234 | POMC | c.262_263insCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
| gnomAD v4 |
2 | g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTG | CA2658163235 | POMC | c.262_263insCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
| gnomAD v4 |
2 | g.25161623C>A | CA346067429 | POMC | c.262G>T (p.Gly88Cys)
| |
2 | g.25161623C= | CA1239228216 | POMC | c.262G= (p.Gly88=)
| |
2 | g.25161623C>G | CA346067430 | POMC | c.262G>C (p.Gly88Arg)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161623C>T | CA346067431 | POMC | c.262G>A (p.Gly88Ser)
| dbSNP |
2 | g.25161624G>A | CA425179883 | POMC | c.261C>T (p.Phe87=)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161624G>C | CA346067432 | POMC | c.261C>G (p.Phe87Leu)
| |
2 | g.25161624G= | CA1239228224 | POMC | c.261C= (p.Phe87=)
| |
2 | g.25161624G>T | CA1555345 | POMC | c.261C>A (p.Phe87Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161624_25161625delinsGA | CA1239228227 | POMC | c.260_261delinsTC (p.Phe87=)
| |
2 | g.25161625A>C | CA346067434 | POMC | c.260T>G (p.Phe87Cys)
| gnomAD v4 |
2 | g.25161625A>G | CA346067435 | POMC | c.260T>C (p.Phe87Ser)
| |
2 | g.25161625A>T | CA346067433 | POMC | c.260T>A (p.Phe87Tyr)
| |
2 | g.25161626del | CA767173724 | POMC | c.260del (p.Phe87SerfsTer?)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161626A>C | CA346067436 | POMC | c.259T>G (p.Phe87Val)
| |
2 | g.25161626A>G | CA346067437 | POMC | c.259T>C (p.Phe87Leu)
| gnomAD v4 |
2 | g.25161626A>T | CA346067438 | POMC | c.259T>A (p.Phe87Ile)
| |
2 | g.25161627T>A | CA425179892 | POMC | c.258A>T (p.Arg86=)
| |
2 | g.25161627T>C | CA425179893 | POMC | c.258A>G (p.Arg86=)
| |
2 | g.25161627T>G | CA425179895 | POMC | c.258A>C (p.Arg86=)
| |
2 | g.25161628C>A | CA346067439 | POMC | c.257G>T (p.Arg86Leu)
| gnomAD v4 |
2 | g.25161628C= | CA1239228235 | POMC | c.257G= (p.Arg86=)
| |
2 | g.25161628C>G | CA346067440 | POMC | c.257G>C (p.Arg86Pro)
| gnomAD v4 |
2 | g.25161628C>T | CA346067441 | POMC | c.257G>A (p.Arg86Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161629G>A | CA346067442 | POMC | c.256C>T (p.Arg86Ter)
| dbSNP gnomAD v4 |
2 | g.25161629G>C | CA346067443 | POMC | c.256C>G (p.Arg86Gly)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161629G= | CA1239228240 | POMC | c.256C= (p.Arg86=)
| |
2 | g.25161629G>T | CA425179901 | POMC | c.256C>A (p.Arg86=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161630G>A | CA425179904 | POMC | c.255C>T (p.Asp85=)
| dbSNP gnomAD v4 |
2 | g.25161630G>C | CA1555346 | POMC | c.255C>G (p.Asp85Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161630G= | CA1239228242 | POMC | c.255C= (p.Asp85=)
| |
2 | g.25161630G>T | CA346067444 | POMC | c.255C>A (p.Asp85Glu)
| |
2 | g.25161631T>A | CA346067445 | POMC | c.254A>T (p.Asp85Val)
| |
2 | g.25161631T>C | CA346067446 | POMC | c.254A>G (p.Asp85Gly)
| dbSNP gnomAD v4 |
2 | g.25161631T>G | CA346067447 | POMC | c.254A>C (p.Asp85Ala)
| |
2 | g.25161631T= | CA1239228244 | POMC | c.254A= (p.Asp85=)
| |
2 | g.25161632C>A | CA346067450 | POMC | c.253G>T (p.Asp85Tyr)
| gnomAD v4 |
2 | g.25161632C>G | CA346067449 | POMC | c.253G>C (p.Asp85His)
| |
2 | g.25161632C>T | CA346067448 | POMC | c.253G>A (p.Asp85Asn)
| |
2 | g.25161633C>A | CA346067451 | POMC | c.252G>T (p.Trp84Cys)
| |
2 | g.25161633C= | CA1239228249 | POMC | c.252G= (p.Trp84=)
| |
2 | g.25161633C>G | CA346067452 | POMC | c.252G>C (p.Trp84Cys)
| gnomAD v4 |
2 | g.25161633C>T | CA346067453 | POMC | c.252G>A (p.Trp84Ter)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161634C>A | CA346067454 | POMC | c.251G>T (p.Trp84Leu)
| |
2 | g.25161634C= | CA1239228257 | POMC | c.251G= (p.Trp84=)
| |
2 | g.25161634C>G | CA346067455 | POMC | c.251G>C (p.Trp84Ser)
| |
2 | g.25161634C>T | CA1555347 | POMC | c.251G>A (p.Trp84Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161635A= | CA1239228270 | POMC | c.250T= (p.Trp84=)
| |
2 | g.25161635A>C | CA346067456 | POMC | c.250T>G (p.Trp84Gly)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161635A>G | CA1555348 | POMC | c.250T>C (p.Trp84Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161635A>T | CA346067457 | POMC | c.250T>A (p.Trp84Arg)
| |
2 | g.25161636G>A | CA425179920 | POMC | c.249C>T (p.Arg83=)
| gnomAD v4 |
2 | g.25161636G>C | CA425179922 | POMC | c.249C>G (p.Arg83=)
| |
2 | g.25161636G>T | CA425179923 | POMC | c.249C>A (p.Arg83=)
| |
2 | g.25161637C>A | CA346067458 | POMC | c.248G>T (p.Arg83Leu)
| gnomAD v4 |
2 | g.25161637C= | CA1239228284 | POMC | c.248G= (p.Arg83=)
| |
2 | g.25161637C>G | CA346067459 | POMC | c.248G>C (p.Arg83Pro)
| |
2 | g.25161637C>T | CA43684950 | POMC | c.248G>A (p.Arg83His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161638G>A | CA346067462 | POMC | c.247C>T (p.Arg83Cys)
| |
2 | g.25161638G>C | CA346067461 | POMC | c.247C>G (p.Arg83Gly)
| |
2 | g.25161638G>T | CA346067460 | POMC | c.247C>A (p.Arg83Ser)
| |
2 | g.25161639G>A | CA425179931 | POMC | c.246C>T (p.Phe82=)
| dbSNP gnomAD v4 |
2 | g.25161639G>C | CA346067463 | POMC | c.246C>G (p.Phe82Leu)
| |
2 | g.25161639G>T | CA346067464 | POMC | c.246C>A (p.Phe82Leu)
| gnomAD v4 |
2 | g.25161640A>C | CA346067465 | POMC | c.245T>G (p.Phe82Cys)
| |
2 | g.25161640A>G | CA346067466 | POMC | c.245T>C (p.Phe82Ser)
| gnomAD v4 |
2 | g.25161640A>T | CA346067467 | POMC | c.245T>A (p.Phe82Tyr)
| |
2 | g.25161641A= | CA1239228290 | POMC | c.244T= (p.Phe82=)
| |
2 | g.25161641A>C | CA1555349 | POMC | c.244T>G (p.Phe82Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161641A>G | CA346067468 | POMC | c.244T>C (p.Phe82Leu)
| |
2 | g.25161641A>T | CA346067469 | POMC | c.244T>A (p.Phe82Ile)
| |
2 | g.25161642G>A | CA1555350 | POMC | c.243C>T (p.His81=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161642G>C | CA346067470 | POMC | c.243C>G (p.His81Gln)
| |
2 | g.25161642G= | CA1239228303 | POMC | c.243C= (p.His81=)
| |
2 | g.25161642G>T | CA346067471 | POMC | c.243C>A (p.His81Gln)
| |
2 | g.25161643T>A | CA346067472 | POMC | c.242A>T (p.His81Leu)
| gnomAD v4 |
2 | g.25161643T>C | CA346067473 | POMC | c.242A>G (p.His81Arg)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161643T>G | CA346067474 | POMC | c.242A>C (p.His81Pro)
| |
2 | g.25161643T= | CA1239228307 | POMC | c.242A= (p.His81=)
| |
2 | g.25161644G>A | CA346067477 | POMC | c.241C>T (p.His81Tyr)
| gnomAD v4 |
2 | g.25161644G>C | CA346067475 | POMC | c.241C>G (p.His81Asp)
| |
2 | g.25161644G>T | CA346067476 | POMC | c.241C>A (p.His81Asn)
| |
2 | g.25161645G>A | CA425179951 | POMC | c.240C>T (p.Gly80=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161645G>C | CA425179952 | POMC | c.240C>G (p.Gly80=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161645G= | CA1239228312 | POMC | c.240C= (p.Gly80=)
| |
2 | g.25161645G>T | CA425179954 | POMC | c.240C>A (p.Gly80=)
| |
2 | g.25161646C>A | CA346067478 | POMC | c.239G>T (p.Gly80Val)
| gnomAD v4 |
2 | g.25161646C>G | CA346067479 | POMC | c.239G>C (p.Gly80Ala)
| |
2 | g.25161646C>T | CA346067480 | POMC | c.239G>A (p.Gly80Asp)
| gnomAD v4 |
2 | g.25161647C>A | CA346067481 | POMC | c.238G>T (p.Gly80Cys)
| gnomAD v4 |
2 | g.25161647C= | CA1239228319 | POMC | c.238G= (p.Gly80=)
| |
2 | g.25161647C>G | CA346067482 | POMC | c.238G>C (p.Gly80Arg)
| |
2 | g.25161647C>T | CA346067483 | POMC | c.238G>A (p.Gly80Ser)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161648C>A | CA346067484 | POMC | c.237G>T (p.Met79Ile)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161648C= | CA1239228323 | POMC | c.237G= (p.Met79=)
| |
2 | g.25161648C>G | CA346067485 | POMC | c.237G>C (p.Met79Ile)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161648C>T | CA346067486 | POMC | c.237G>A (p.Met79Ile)
| gnomAD v4 |
2 | g.25161649A>C | CA346067487 | POMC | c.236T>G (p.Met79Arg)
| |
2 | g.25161649A>G | CA346067488 | POMC | c.236T>C (p.Met79Thr)
| |
2 | g.25161649A>T | CA346067489 | POMC | c.236T>A (p.Met79Lys)
| |
2 | g.25161649_25161662del | CA2576693518 | POMC | c.223_236del (p.Arg75GlyfsTer?)
| |
2 | g.25161650T>A | CA346067492 | POMC | c.235A>T (p.Met79Leu)
| |
2 | g.25161650T>C | CA346067491 | POMC | c.235A>G (p.Met79Val)
| |
2 | g.25161650T>G | CA346067490 | POMC | c.235A>C (p.Met79Leu)
| |
2 | g.25161651G>A | CA425179972 | POMC | c.234C>T (p.Val78=)
| |
2 | g.25161651G>C | CA425179973 | POMC | c.234C>G (p.Val78=)
| |
2 | g.25161651G= | CA1239228327 | POMC | c.234C= (p.Val78=)
| |
2 | g.25161651G>T | CA425179975 | POMC | c.234C>A (p.Val78=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161652A>C | CA346067495 | POMC | c.233T>G (p.Val78Gly)
| gnomAD v4 |
2 | g.25161652A>G | CA346067493 | POMC | c.233T>C (p.Val78Ala)
| |
2 | g.25161652A>T | CA346067494 | POMC | c.233T>A (p.Val78Asp)
| |
2 | g.25161653C>A | CA346067496 | POMC | c.232G>T (p.Val78Phe)
| gnomAD v4 |
2 | g.25161653C>G | CA346067497 | POMC | c.232G>C (p.Val78Leu)
| |
2 | g.25161653C>T | CA346067498 | POMC | c.232G>A (p.Val78Ile)
| gnomAD v4 |
2 | g.25161654G>A | CA1555351 | POMC | c.231C>T (p.Tyr77=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161654G>C | CA346067499 | POMC | c.231C>G (p.Tyr77Ter)
| |
2 | g.25161654G= | CA1239228329 | POMC | c.231C= (p.Tyr77=)
| |
2 | g.25161654G>T | CA346067500 | POMC | c.231C>A (p.Tyr77Ter)
| gnomAD v4 |
2 | g.25161655T>A | CA346067501 | POMC | c.230A>T (p.Tyr77Phe)
| |
2 | g.25161655T>C | CA346067502 | POMC | c.230A>G (p.Tyr77Cys)
| gnomAD v4 |
2 | g.25161655T>G | CA346067503 | POMC | c.230A>C (p.Tyr77Ser)
| |
2 | g.25161656A>C | CA346067504 | POMC | c.229T>G (p.Tyr77Asp)
| gnomAD v4 |
2 | g.25161656A>G | CA346067505 | POMC | c.229T>C (p.Tyr77His)
| |
2 | g.25161656A>T | CA346067506 | POMC | c.229T>A (p.Tyr77Asn)
| |
2 | g.25161657C>A | CA346067507 | POMC | c.228G>T (p.Lys76Asn)
| |
2 | g.25161657C= | CA1239228333 | POMC | c.228G= (p.Lys76=)
| |
2 | g.25161657C>G | CA346067508 | POMC | c.228G>C (p.Lys76Asn)
| |
2 | g.25161657C>T | CA425179991 | POMC | c.228G>A (p.Lys76=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161658T>A | CA346067509 | POMC | c.227A>T (p.Lys76Met)
| |
2 | g.25161658T>C | CA346067510 | POMC | c.227A>G (p.Lys76Arg)
| |
2 | g.25161658T>G | CA346067511 | POMC | c.227A>C (p.Lys76Thr)
| |
2 | g.25161659T>A | CA346067512 | POMC | c.226A>T (p.Lys76Ter)
| |
2 | g.25161659T>C | CA346067513 | POMC | c.226A>G (p.Lys76Glu)
| |
2 | g.25161659T>G | CA43684965 | POMC | c.226A>C (p.Lys76Gln)
| dbSNP gnomAD v4 |
2 | g.25161659T= | CA1239228334 | POMC | c.226A= (p.Lys76=)
| |
2 | g.25161659_25161660delinsTC | CA1239228335 | POMC | c.225_226delinsGA (p.Arg75=)
| |
2 | g.25161660C>A | CA425180001 | POMC | c.225G>T (p.Arg75=)
| |
2 | g.25161660C= | CA1239228339 | POMC | c.225G= (p.Arg75=)
| |
2 | g.25161660C>G | CA425180002 | POMC | c.225G>C (p.Arg75=)
| |
2 | g.25161660C>T | CA1555352 | POMC | c.225G>A (p.Arg75=)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.25161661del | CA913189932 | POMC | c.225del (p.Lys76SerfsTer?)
| ClinVar dbSNP |
2 | g.25161661C>A | CA346067514 | POMC | c.224G>T (p.Arg75Leu)
| |
2 | g.25161661C>G | CA346067515 | POMC | c.224G>C (p.Arg75Pro)
| |
2 | g.25161661C>T | CA346067516 | POMC | c.224G>A (p.Arg75Gln)
| gnomAD v4 |
2 | g.25161662G>A | CA346067517 | POMC | c.223C>T (p.Arg75Trp)
| |
2 | g.25161662G>C | CA346067518 | POMC | c.223C>G (p.Arg75Gly)
| gnomAD v4 |
2 | g.25161662G>T | CA425180009 | POMC | c.223C>A (p.Arg75=)
| gnomAD v4 |
2 | g.25161666dup | CA2586968733 | POMC | c.223dup (p.Arg75ProfsTer?)
| |
2 | g.25161663G>A | CA425180013 | POMC | c.222C>T (p.Pro74=)
| gnomAD v4 |
2 | g.25161663G>C | CA425180012 | POMC | c.222C>G (p.Pro74=)
| |
2 | g.25161663G>T | CA425180015 | POMC | c.222C>A (p.Pro74=)
| gnomAD v4 |
2 | g.25161663_25161678delinsGGGGTTCTCGGTCAGA | CA1239228340 | POMC | c.207_222delinsTCTGACCGAGAACCCC (p.Pro69=)
| |
2 | g.25161664G>A | CA346067520 | POMC | c.221C>T (p.Pro74Leu)
| gnomAD v4 |
2 | g.25161664G>C | CA346067521 | POMC | c.221C>G (p.Pro74Arg)
| |
2 | g.25161664G= | CA1239228342 | POMC | c.221C= (p.Pro74=)
| |
2 | g.25161664G>T | CA346067519 | POMC | c.221C>A (p.Pro74His)
| ClinVar dbSNP gnomAD v4 |
2 | g.25161666_25161680del | CA767173809 | POMC | c.207_221del (p.Leu70_Pro74del)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161665G>A | CA346067522 | POMC | c.220C>T (p.Pro74Ser)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161665G>C | CA346067524 | POMC | c.220C>G (p.Pro74Ala)
| |
2 | g.25161665G= | CA1239228344 | POMC | c.220C= (p.Pro74=)
| |
2 | g.25161665G>T | CA346067523 | POMC | c.220C>A (p.Pro74Thr)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161666G>A | CA425180023 | POMC | c.219C>T (p.Asn73=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161666G>C | CA346067525 | POMC | c.219C>G (p.Asn73Lys)
| |
2 | g.25161666G= | CA1239228345 | POMC | c.219C= (p.Asn73=)
| |
2 | g.25161666G>T | CA346067526 | POMC | c.219C>A (p.Asn73Lys)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161667T>A | CA346067527 | POMC | c.218A>T (p.Asn73Ile)
| |
2 | g.25161667T>C | CA346067528 | POMC | c.218A>G (p.Asn73Ser)
| |
2 | g.25161667T>G | CA346067529 | POMC | c.218A>C (p.Asn73Thr)
| dbSNP |
2 | g.25161668T>A | CA346067530 | POMC | c.217A>T (p.Asn73Tyr)
| |
2 | g.25161668T>C | CA346067531 | POMC | c.217A>G (p.Asn73Asp)
| gnomAD v4 |
2 | g.25161668T>G | CA346067532 | POMC | c.217A>C (p.Asn73His)
| |
2 | g.25161669C>A | CA43684979 | POMC | c.216G>T (p.Glu72Asp)
| dbSNP gnomAD v4 |
2 | g.25161669C= | CA1239228348 | POMC | c.216G= (p.Glu72=)
| |
2 | g.25161669C>G | CA346067533 | POMC | c.216G>C (p.Glu72Asp)
| |
2 | g.25161669C>T | CA43684975 | POMC | c.216G>A (p.Glu72=)
| dbSNP gnomAD v2 |
2 | g.25161670T>A | CA346067536 | POMC | c.215A>T (p.Glu72Val)
| |
2 | g.25161670T>C | CA346067535 | POMC | c.215A>G (p.Glu72Gly)
| |
2 | g.25161670T>G | CA346067534 | POMC | c.215A>C (p.Glu72Ala)
| |
2 | g.25161671C>A | CA346067537 | POMC | c.214G>T (p.Glu72Ter)
| |
2 | g.25161671C>G | CA346067538 | POMC | c.214G>C (p.Glu72Gln)
| |
2 | g.25161671C>T | CA346067539 | POMC | c.214G>A (p.Glu72Lys)
| gnomAD v4 |
2 | g.25161672G>A | CA1555353 | POMC | c.213C>T (p.Thr71=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161672G>C | CA1555354 | POMC | c.213C>G (p.Thr71=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161672G= | CA1239228355 | POMC | c.213C= (p.Thr71=)
| |
2 | g.25161672G>T | CA425180041 | POMC | c.213C>A (p.Thr71=)
| dbSNP gnomAD v4 |
2 | g.25161673G>A | CA346067540 | POMC | c.212C>T (p.Thr71Ile)
| |
2 | g.25161673G>C | CA346067541 | POMC | c.212C>G (p.Thr71Ser)
| gnomAD v4 |
2 | g.25161673G>T | CA346067542 | POMC | c.212C>A (p.Thr71Asn)
| |
2 | g.25161674del | CA2658163236 | POMC | c.211del (p.Thr71ProfsTer?)
| gnomAD v4 |
2 | g.25161674T>A | CA346067543 | POMC | c.211A>T (p.Thr71Ser)
| |
2 | g.25161674T>C | CA346067544 | POMC | c.211A>G (p.Thr71Ala)
| |
2 | g.25161674T>G | CA346067545 | POMC | c.211A>C (p.Thr71Pro)
| |
2 | g.25161675C>A | CA425180050 | POMC | c.210G>T (p.Leu70=)
| gnomAD v4 |
2 | g.25161675C>G | CA425180051 | POMC | c.210G>C (p.Leu70=)
| |
2 | g.25161675C>T | CA425180053 | POMC | c.210G>A (p.Leu70=)
| gnomAD v4 |
2 | g.25161676A= | CA1239228360 | POMC | c.209T= (p.Leu70=)
| |
2 | g.25161676A>C | CA346067547 | POMC | c.209T>G (p.Leu70Arg)
| gnomAD v4 |
2 | g.25161676A>G | CA346067548 | POMC | c.209T>C (p.Leu70Pro)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161676A>T | CA346067546 | POMC | c.209T>A (p.Leu70Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161677G>A | CA425180059 | POMC | c.208C>T (p.Leu70=)
| |
2 | g.25161677G>C | CA346067549 | POMC | c.208C>G (p.Leu70Val)
| |
2 | g.25161677G>T | CA346067550 | POMC | c.208C>A (p.Leu70Met)
| gnomAD v4 |
2 | g.25161678A>C | CA425180063 | POMC | c.207T>G (p.Pro69=)
| gnomAD v4 |
2 | g.25161678A>G | CA425180064 | POMC | c.207T>C (p.Pro69=)
| gnomAD v4 |
2 | g.25161678A>T | CA425180066 | POMC | c.207T>A (p.Pro69=)
| |
2 | g.25161678_25161691del | CA2658163237 | POMC | c.194_207del (p.Gly65AlafsTer?)
| gnomAD v4 |
2 | g.25161679G>A | CA1555355 | POMC | c.206C>T (p.Pro69Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161679G>C | CA346067551 | POMC | c.206C>G (p.Pro69Arg)
| COSMIC |
2 | g.25161679G= | CA1239228363 | POMC | c.206C= (p.Pro69=)
| |
2 | g.25161679G>T | CA346067552 | POMC | c.206C>A (p.Pro69His)
| gnomAD v4 |
2 | g.25161680del | CA2586968734 | POMC | c.206del (p.Pro69LeufsTer2)
| |
2 | g.25161680G>A | CA346067553 | POMC | c.205C>T (p.Pro69Ser)
| |
2 | g.25161680G>C | CA346067554 | POMC | c.205C>G (p.Pro69Ala)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161680G= | CA1239228366 | POMC | c.205C= (p.Pro69=)
| |
2 | g.25161680G>T | CA346067555 | POMC | c.205C>A (p.Pro69Thr)
| gnomAD v4 |
2 | g.25161681C>A | CA346067556 | POMC | c.204G>T (p.Gln68His)
| gnomAD v4 |
2 | g.25161681C>G | CA346067557 | POMC | c.204G>C (p.Gln68His)
| gnomAD v4 |
2 | g.25161681C>T | CA425180075 | POMC | c.204G>A (p.Gln68=)
| |
2 | g.25161682T>A | CA346067558 | POMC | c.203A>T (p.Gln68Leu)
| |
2 | g.25161682T>C | CA346067559 | POMC | c.203A>G (p.Gln68Arg)
| |
2 | g.25161682T>G | CA346067560 | POMC | c.203A>C (p.Gln68Pro)
| gnomAD v4 |
2 | g.25161683G>A | CA346067563 | POMC | c.202C>T (p.Gln68Ter)
| gnomAD v4 |
2 | g.25161683G>C | CA346067562 | POMC | c.202C>G (p.Gln68Glu)
| |
2 | g.25161683G= | CA1239228370 | POMC | c.202C= (p.Gln68=)
| |
2 | g.25161683G>T | CA346067561 | POMC | c.202C>A (p.Gln68Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161684C>A | CA346067564 | POMC | c.201G>T (p.Glu67Asp)
| |
2 | g.25161684C= | CA1239228374 | POMC | c.201G= (p.Glu67=)
| |
2 | g.25161684C>G | CA1555356 | POMC | c.201G>C (p.Glu67Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161684C>T | CA425180079 | POMC | c.201G>A (p.Glu67=)
| dbSNP gnomAD v4 |
2 | g.25161685T>A | CA346067565 | POMC | c.200A>T (p.Glu67Val)
| |
2 | g.25161685T>C | CA346067566 | POMC | c.200A>G (p.Glu67Gly)
| gnomAD v4 |
2 | g.25161685T>G | CA346067567 | POMC | c.200A>C (p.Glu67Ala)
| |
2 | g.25161686C>A | CA346067568 | POMC | c.199G>T (p.Glu67Ter)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161686C= | CA1239228378 | POMC | c.199G= (p.Glu67=)
| |
2 | g.25161686C>G | CA346067569 | POMC | c.199G>C (p.Glu67Gln)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161686C>T | CA346067570 | POMC | c.199G>A (p.Glu67Lys)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161687G>A | CA425180087 | POMC | c.198C>T (p.Asp66=)
| gnomAD v4 |
2 | g.25161687G>C | CA1555357 | POMC | c.198C>G (p.Asp66Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161687G= | CA1239228383 | POMC | c.198C= (p.Asp66=)
| |
2 | g.25161687G>T | CA346067571 | POMC | c.198C>A (p.Asp66Glu)
| |
2 | g.25161688T>A | CA346067572 | POMC | c.197A>T (p.Asp66Val)
| |
2 | g.25161688T>C | CA346067573 | POMC | c.197A>G (p.Asp66Gly)
| |
2 | g.25161688T>G | CA346067574 | POMC | c.197A>C (p.Asp66Ala)
| |
2 | g.25161689C>A | CA346067576 | POMC | c.196G>T (p.Asp66Tyr)
| |
2 | g.25161689C= | CA1239228387 | POMC | c.196G= (p.Asp66=)
| |
2 | g.25161689C>G | CA346067577 | POMC | c.196G>C (p.Asp66His)
| |
2 | g.25161689C>T | CA346067575 | POMC | c.196G>A (p.Asp66Asn)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161690G>A | CA425180094 | POMC | c.195C>T (p.Gly65=)
| dbSNP gnomAD v4 COSMIC |
2 | g.25161690G>C | CA425180096 | POMC | c.195C>G (p.Gly65=)
| |
2 | g.25161690G= | CA1239228391 | POMC | c.195C= (p.Gly65=)
| |
2 | g.25161690G>T | CA425180097 | POMC | c.195C>A (p.Gly65=)
| gnomAD v4 |
2 | g.25161691C>A | CA346067580 | POMC | c.194G>T (p.Gly65Val)
| gnomAD v4 |
2 | g.25161691C>G | CA346067578 | POMC | c.194G>C (p.Gly65Ala)
| |
2 | g.25161691C>T | CA346067579 | POMC | c.194G>A (p.Gly65Asp)
| gnomAD v4 |
2 | g.25161692C>A | CA346067581 | POMC | c.193G>T (p.Gly65Cys)
| gnomAD v4 |
2 | g.25161692C>G | CA346067582 | POMC | c.193G>C (p.Gly65Arg)
| |
2 | g.25161692C>T | CA346067583 | POMC | c.193G>A (p.Gly65Ser)
| gnomAD v4 |
2 | g.25161693A>C | CA346067584 | POMC | c.192T>G (p.Asn64Lys)
| |
2 | g.25161693A>G | CA425180104 | POMC | c.192T>C (p.Asn64=)
| gnomAD v4 |
2 | g.25161693A>T | CA346067585 | POMC | c.192T>A (p.Asn64Lys)
| |
2 | g.25161694T>A | CA346067586 | POMC | c.191A>T (p.Asn64Ile)
| |
2 | g.25161694T>C | CA346067587 | POMC | c.191A>G (p.Asn64Ser)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161694T>G | CA346067588 | POMC | c.191A>C (p.Asn64Thr)
| |
2 | g.25161694T= | CA1239228393 | POMC | c.191A= (p.Asn64=)
| |
2 | g.25161696dup | CA2840409594 | POMC | c.191dup (p.Asn64LysfsTer?)
| |
2 | g.25161695T>A | CA346067589 | POMC | c.190A>T (p.Asn64Tyr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161695T>C | CA346067590 | POMC | c.190A>G (p.Asn64Asp)
| gnomAD v4 |
2 | g.25161695T>G | CA346067591 | POMC | c.190A>C (p.Asn64His)
| |
2 | g.25161695T= | CA1239228397 | POMC | c.190A= (p.Asn64=)
| |
2 | g.25161696T>A | CA425180112 | POMC | c.189A>T (p.Gly63=)
| gnomAD v4 |
2 | g.25161696T>C | CA425180113 | POMC | c.189A>G (p.Gly63=)
| |
2 | g.25161696T>G | CA425180115 | POMC | c.189A>C (p.Gly63=)
| dbSNP |
2 | g.25161697C>A | CA346067594 | POMC | c.188G>T (p.Gly63Val)
| gnomAD v4 |
2 | g.25161697C= | CA1239228401 | POMC | c.188G= (p.Gly63=)
| |
2 | g.25161697C>G | CA346067593 | POMC | c.188G>C (p.Gly63Ala)
| dbSNP gnomAD v4 |
2 | g.25161697C>T | CA346067592 | POMC | c.188G>A (p.Gly63Glu)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161699del | CA425180117 | POMC | c.188del (p.Gly63GlufsTer8)
| gnomAD v4 COSMIC |
2 | g.25161698C>A | CA346067595 | POMC | c.187G>T (p.Gly63Ter)
| gnomAD v4 |
2 | g.25161698C= | CA1239228407 | POMC | c.187G= (p.Gly63=)
| |
2 | g.25161698C>G | CA346067596 | POMC | c.187G>C (p.Gly63Arg)
| |
2 | g.25161698C>T | CA346067597 | POMC | c.187G>A (p.Gly63Arg)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161699C>A | CA1555358 | POMC | c.186G>T (p.Pro62=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161699C= | CA1239228416 | POMC | c.186G= (p.Pro62=)
| |
2 | g.25161699C>G | CA1555360 | POMC | c.186G>C (p.Pro62=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161699C>T | CA1555359 | POMC | c.186G>A (p.Pro62=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161700G>A | CA1555361 | POMC | c.185C>T (p.Pro62Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161700G>C | CA346067598 | POMC | c.185C>G (p.Pro62Arg)
| |
2 | g.25161700G= | CA1239228426 | POMC | c.185C= (p.Pro62=)
| |
2 | g.25161700G>T | CA346067599 | POMC | c.185C>A (p.Pro62Gln)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161701G>A | CA346067600 | POMC | c.184C>T (p.Pro62Ser)
| gnomAD v4 COSMIC |
2 | g.25161701G>C | CA346067601 | POMC | c.184C>G (p.Pro62Ala)
| |
2 | g.25161701G>T | CA346067602 | POMC | c.184C>A (p.Pro62Thr)
| gnomAD v4 |
2 | g.25161702G>A | CA425180134 | POMC | c.183C>T (p.Phe61=)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161702G>C | CA346067603 | POMC | c.183C>G (p.Phe61Leu)
| |
2 | g.25161702G= | CA1239228430 | POMC | c.183C= (p.Phe61=)
| |
2 | g.25161702G>T | CA346067604 | POMC | c.183C>A (p.Phe61Leu)
| gnomAD v4 |
2 | g.25161703A>C | CA346067607 | POMC | c.182T>G (p.Phe61Cys)
| gnomAD v4 |
2 | g.25161703A>G | CA346067606 | POMC | c.182T>C (p.Phe61Ser)
| |
2 | g.25161703A>T | CA346067605 | POMC | c.182T>A (p.Phe61Tyr)
| |
2 | g.25161704A>C | CA346067608 | POMC | c.181T>G (p.Phe61Val)
| |
2 | g.25161704A>G | CA346067609 | POMC | c.181T>C (p.Phe61Leu)
| |
2 | g.25161704A>T | CA346067610 | POMC | c.181T>A (p.Phe61Ile)
| |
2 | g.25161705del | CA2573051910 | POMC | c.180del (p.Met60IlefsTer11)
| ClinVar dbSNP |
2 | g.25161705C>A | CA346067611 | POMC | c.180G>T (p.Met60Ile)
| gnomAD v4 |
2 | g.25161705C= | CA1239228435 | POMC | c.180G= (p.Met60=)
| |
2 | g.25161705C>G | CA346067612 | POMC | c.180G>C (p.Met60Ile)
| |
2 | g.25161705C>T | CA1555362 | POMC | c.180G>A (p.Met60Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161706A= | CA1239228439 | POMC | c.179T= (p.Met60=)
| |
2 | g.25161706A>C | CA346067614 | POMC | c.179T>G (p.Met60Arg)
| |
2 | g.25161706A>G | CA1555363 | POMC | c.179T>C (p.Met60Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161706A>T | CA346067613 | POMC | c.179T>A (p.Met60Lys)
| |
2 | g.25161707T>A | CA346067615 | POMC | c.178A>T (p.Met60Leu)
| |
2 | g.25161707T>C | CA1555364 | POMC | c.178A>G (p.Met60Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161707T>G | CA346067616 | POMC | c.178A>C (p.Met60Leu)
| gnomAD v4 |
2 | g.25161707T= | CA1239228447 | POMC | c.178A= (p.Met60=)
| |
2 | g.25161708G>A | CA425180153 | POMC | c.177C>T (p.Pro59=)
| |
2 | g.25161708G>C | CA425180155 | POMC | c.177C>G (p.Pro59=)
| dbSNP gnomAD v4 |
2 | g.25161708G= | CA1239228450 | POMC | c.177C= (p.Pro59=)
| |
2 | g.25161708G>T | CA425180157 | POMC | c.177C>A (p.Pro59=)
| gnomAD v4 |
2 | g.25161709G>A | CA1555365 | POMC | c.176C>T (p.Pro59Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161709G>C | CA346067617 | POMC | c.176C>G (p.Pro59Arg)
| |
2 | g.25161709G= | CA1239228457 | POMC | c.176C= (p.Pro59=)
| |
2 | g.25161709G>T | CA346067618 | POMC | c.176C>A (p.Pro59His)
| gnomAD v4 |
2 | g.25161710G>A | CA346067619 | POMC | c.175C>T (p.Pro59Ser)
| gnomAD v4 |
2 | g.25161710G>C | CA346067621 | POMC | c.175C>G (p.Pro59Ala)
| gnomAD v4 |
2 | g.25161710G= | CA1239228458 | POMC | c.175C= (p.Pro59=)
| |
2 | g.25161710G>T | CA346067620 | POMC | c.175C>A (p.Pro59Thr)
| gnomAD v4 |
2 | g.25161711A>C | CA425180164 | POMC | c.174T>G (p.Thr58=)
| |
2 | g.25161711A>G | CA425180163 | POMC | c.174T>C (p.Thr58=)
| gnomAD v4 |
2 | g.25161711A>T | CA425180161 | POMC | c.174T>A (p.Thr58=)
| |
2 | g.25161711dup | CA767173906 | POMC | c.174dup (p.Pro59SerfsTer?)
| dbSNP |
2 | g.25161712G>A | CA346067622 | POMC | c.173C>T (p.Thr58Ile)
| COSMIC |
2 | g.25161712G>C | CA346067623 | POMC | c.173C>G (p.Thr58Ser)
| |
2 | g.25161712G>T | CA346067624 | POMC | c.173C>A (p.Thr58Asn)
| gnomAD v4 |
2 | g.25161713T>A | CA346067625 | POMC | c.172A>T (p.Thr58Ser)
| |
2 | g.25161713T>C | CA1555366 | POMC | c.172A>G (p.Thr58Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161713T>G | CA346067626 | POMC | c.172A>C (p.Thr58Pro)
| gnomAD v4 |
2 | g.25161713T= | CA1239228463 | POMC | c.172A= (p.Thr58=)
| |
2 | g.25161714C>A | CA346067627 | POMC | c.171G>T (p.Glu57Asp)
| gnomAD v4 |
2 | g.25161714C>G | CA346067628 | POMC | c.171G>C (p.Glu57Asp)
| |
2 | g.25161714C>T | CA425180175 | POMC | c.171G>A (p.Glu57=)
| |
2 | g.25161715T>A | CA346067629 | POMC | c.170A>T (p.Glu57Val)
| gnomAD v4 |
2 | g.25161715T>C | CA346067630 | POMC | c.170A>G (p.Glu57Gly)
| |
2 | g.25161715T>G | CA346067631 | POMC | c.170A>C (p.Glu57Ala)
| |
2 | g.25161716C>A | CA346067632 | POMC | c.169G>T (p.Glu57Ter)
| gnomAD v4 |
2 | g.25161716C= | CA1239228471 | POMC | c.169G= (p.Glu57=)
| |
2 | g.25161716C>G | CA43685040 | POMC | c.169G>C (p.Glu57Gln)
| dbSNP |
2 | g.25161716C>T | CA43685030 | POMC | c.169G>A (p.Glu57Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161717G>A | CA1555367 | POMC | c.168C>T (p.Ala56=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161717G>C | CA1555368 | POMC | c.168C>G (p.Ala56=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161717G= | CA1239228481 | POMC | c.168C= (p.Ala56=)
| |
2 | g.25161717G>T | CA425180184 | POMC | c.168C>A (p.Ala56=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161718G>A | CA346067633 | POMC | c.167C>T (p.Ala56Val)
| gnomAD v4 COSMIC |
2 | g.25161718G>C | CA346067634 | POMC | c.167C>G (p.Ala56Gly)
| dbSNP gnomAD v2 |
2 | g.25161718G= | CA1239228485 | POMC | c.167C= (p.Ala56=)
| |
2 | g.25161718G>T | CA346067635 | POMC | c.167C>A (p.Ala56Asp)
| gnomAD v4 COSMIC |