Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.12647196_12647208delinsGACTCCACCCCTTCA2323498513MAN2B1c.2923+25_2923+37delinsAAGGGGTGGAGTC (n.2923+25_2923+37delinsAAGGGGTGGAGTC)
c.2920+25_2920+37delinsAAGGGGTGGAGTC (n.2920+25_2920+37delinsAAGGGGTGGAGTC)
n.3513+25_3513+37delinsAAGGGGTGGAGTC
n.352+25_352+37delinsAAGGGGTGGAGTC
n.334+25_334+37delinsAAGGGGTGGAGTC
c.482+25_482+37delinsAAGGGGTGGAGTC
c.2926+25_2926+37delinsAAGGGGTGGAGTC (n.2926+25_2926+37delinsAAGGGGTGGAGTC)
c.1822+25_1822+37delinsAAGGGGTGGAGTC (n.1822+25_1822+37delinsAAGGGGTGGAGTC)
19g.12647197_12647208delCA2323498514MAN2B1c.2923+25_2923+36del (n.2923+25_2923+36del)
c.2920+25_2920+36del (n.2920+25_2920+36del)
n.3513+25_3513+36del
n.352+25_352+36del
n.334+25_334+36del
c.482+25_482+36del
c.2926+25_2926+36del (n.2926+25_2926+36del)
c.1822+25_1822+36del (n.1822+25_1822+36del)
 dbSNP
19g.12647209C=CA2323498518MAN2B1c.2923+24G= (n.2923+24G=)
c.2920+24G= (n.2920+24G=)
n.3513+24G=
n.352+24G=
n.334+24G=
c.482+24G=
c.2926+24G= (n.2926+24G=)
c.1822+24G= (n.1822+24G=)
19g.12647209C>TCA631832297MAN2B1c.2923+24G>A (n.2923+24G>A)
c.2920+24G>A (n.2920+24G>A)
n.3513+24G>A
n.352+24G>A
n.334+24G>A
c.482+24G>A
c.2926+24G>A (n.2926+24G>A)
c.1822+24G>A (n.1822+24G>A)
 dbSNP gnomAD v2 gnomAD v4
19g.12647210C>TCA2813644426MAN2B1c.2923+23G>A (n.2923+23G>A)
c.2920+23G>A (n.2920+23G>A)
n.3513+23G>A
n.352+23G>A
n.334+23G>A
c.482+23G>A
c.2926+23G>A (n.2926+23G>A)
c.1822+23G>A (n.1822+23G>A)
19g.12647213A=CA2323498519MAN2B1c.2923+20T= (n.2923+20T=)
c.2920+20T= (n.2920+20T=)
n.3513+20T=
n.352+20T=
n.334+20T=
c.482+20T=
c.2926+20T= (n.2926+20T=)
c.1822+20T= (n.1822+20T=)
19g.12647213A>TCA783384104MAN2B1c.2923+20T>A (n.2923+20T>A)
c.2920+20T>A (n.2920+20T>A)
n.3513+20T>A
n.352+20T>A
n.334+20T>A
c.482+20T>A
c.2926+20T>A (n.2926+20T>A)
c.1822+20T>A (n.1822+20T>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.12647214C>ACA2582717335MAN2B1c.2923+19G>T (n.2923+19G>T)
c.2920+19G>T (n.2920+19G>T)
n.3513+19G>T
n.352+19G>T
n.334+19G>T
c.482+19G>T
c.2926+19G>T (n.2926+19G>T)
c.1822+19G>T (n.1822+19G>T)
 gnomAD v4
19g.12647214C>TCA2582717336MAN2B1c.2923+19G>A (n.2923+19G>A)
c.2920+19G>A (n.2920+19G>A)
n.3513+19G>A
n.352+19G>A
n.334+19G>A
c.482+19G>A
c.2926+19G>A (n.2926+19G>A)
c.1822+19G>A (n.1822+19G>A)
 gnomAD v4
19g.12647217dupCA631832298MAN2B1c.2923+19dup (n.2923+19dup)
c.2920+19dup (n.2920+19dup)
n.3513+19dup
n.352+19dup
n.334+19dup
c.482+19dup
c.2926+19dup (n.2926+19dup)
c.1822+19dup (n.1822+19dup)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.12647215C>TCA2582717337MAN2B1c.2923+18G>A (n.2923+18G>A)
c.2920+18G>A (n.2920+18G>A)
n.3513+18G>A
n.352+18G>A
n.334+18G>A
c.482+18G>A
c.2926+18G>A (n.2926+18G>A)
c.1822+18G>A (n.1822+18G>A)
 gnomAD v4
19g.12647216C>ACA2323498521MAN2B1c.2923+17G>T (n.2923+17G>T)
c.2920+17G>T (n.2920+17G>T)
n.3513+17G>T
n.352+17G>T
n.334+17G>T
c.482+17G>T
c.2926+17G>T (n.2926+17G>T)
c.1822+17G>T (n.1822+17G>T)
 dbSNP
19g.12647216C=CA2323498520MAN2B1c.2923+17G= (n.2923+17G=)
c.2920+17G= (n.2920+17G=)
n.3513+17G=
n.352+17G=
n.334+17G=
c.482+17G=
c.2926+17G= (n.2926+17G=)
c.1822+17G= (n.1822+17G=)
19g.12647216C>TCA631832300MAN2B1c.2923+17G>A (n.2923+17G>A)
c.2920+17G>A (n.2920+17G>A)
n.3513+17G>A
n.352+17G>A
n.334+17G>A
c.482+17G>A
c.2926+17G>A (n.2926+17G>A)
c.1822+17G>A (n.1822+17G>A)
 dbSNP gnomAD v2 gnomAD v4
19g.12647217C=CA2323498522MAN2B1c.2923+16G= (n.2923+16G=)
c.2920+16G= (n.2920+16G=)
n.3513+16G=
n.352+16G=
n.334+16G=
c.482+16G=
c.2926+16G= (n.2926+16G=)
c.1822+16G= (n.1822+16G=)
19g.12647217C>GCA9225876MAN2B1c.2923+16G>C (n.2923+16G>C)
c.2920+16G>C (n.2920+16G>C)
n.3513+16G>C
n.352+16G>C
n.334+16G>C
c.482+16G>C
c.2926+16G>C (n.2926+16G>C)
c.1822+16G>C (n.1822+16G>C)
 dbSNP ExAC gnomAD v2
19g.12647217C>TCA9225875MAN2B1c.2923+16G>A (n.2923+16G>A)
c.2920+16G>A (n.2920+16G>A)
n.3513+16G>A
n.352+16G>A
n.334+16G>A
c.482+16G>A
c.2926+16G>A (n.2926+16G>A)
c.1822+16G>A (n.1822+16G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.12647218delCA2582717338MAN2B1c.2923+15del (n.2923+15del)
c.2920+15del (n.2920+15del)
n.3513+15del
n.352+15del
n.334+15del
c.482+15del
c.2926+15del (n.2926+15del)
c.1822+15del (n.1822+15del)
 gnomAD v4
19g.12647218T>CCA2576634688MAN2B1c.2923+15A>G (n.2923+15A>G)
c.2920+15A>G (n.2920+15A>G)
n.3513+15A>G
n.352+15A>G
n.334+15A>G
c.482+15A>G
c.2926+15A>G (n.2926+15A>G)
c.1822+15A>G (n.1822+15A>G)
 gnomAD v4
19g.12647219G>TCA2576634689MAN2B1c.2923+14C>A (n.2923+14C>A)
c.2920+14C>A (n.2920+14C>A)
n.3513+14C>A
n.352+14C>A
n.334+14C>A
c.482+14C>A
c.2926+14C>A (n.2926+14C>A)
c.1822+14C>A (n.1822+14C>A)
 gnomAD v4
19g.12647221C=CA2323498523MAN2B1c.2923+12G= (n.2923+12G=)
c.2920+12G= (n.2920+12G=)
n.3513+12G=
n.352+12G=
n.334+12G=
c.482+12G=
c.2926+12G= (n.2926+12G=)
c.1822+12G= (n.1822+12G=)
19g.12647221C>TCA2323498524MAN2B1c.2923+12G>A (n.2923+12G>A)
c.2920+12G>A (n.2920+12G>A)
n.3513+12G>A
n.352+12G>A
n.334+12G>A
c.482+12G>A
c.2926+12G>A (n.2926+12G>A)
c.1822+12G>A (n.1822+12G>A)
 ClinVar dbSNP gnomAD v4
19g.12647222C=CA2323498525MAN2B1c.2923+11G= (n.2923+11G=)
c.2920+11G= (n.2920+11G=)
n.3513+11G=
n.352+11G=
n.334+11G=
c.482+11G=
c.2926+11G= (n.2926+11G=)
c.1822+11G= (n.1822+11G=)
19g.12647222C>TCA305459817MAN2B1c.2923+11G>A (n.2923+11G>A)
c.2920+11G>A (n.2920+11G>A)
n.3513+11G>A
n.352+11G>A
n.334+11G>A
c.482+11G>A
c.2926+11G>A (n.2926+11G>A)
c.1822+11G>A (n.1822+11G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.12647223A>CCA2697556343MAN2B1c.2923+10T>G (n.2923+10T>G)
c.2920+10T>G (n.2920+10T>G)
n.3513+10T>G
n.352+10T>G
n.334+10T>G
c.482+10T>G
c.2926+10T>G (n.2926+10T>G)
c.1822+10T>G (n.1822+10T>G)
 ClinVar
19g.12647224G>ACA9225877MAN2B1c.2923+9C>T (n.2923+9C>T)
c.2920+9C>T (n.2920+9C>T)
n.3513+9C>T
n.352+9C>T
n.334+9C>T
c.482+9C>T
c.2926+9C>T (n.2926+9C>T)
c.1822+9C>T (n.1822+9C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12647224G=CA2323498526MAN2B1c.2923+9C= (n.2923+9C=)
c.2920+9C= (n.2920+9C=)
n.3513+9C=
n.352+9C=
n.334+9C=
c.482+9C=
c.2926+9C= (n.2926+9C=)
c.1822+9C= (n.1822+9C=)
19g.12647225G>TCA2576634690MAN2B1c.2923+8C>A (n.2923+8C>A)
c.2920+8C>A (n.2920+8C>A)
n.3513+8C>A
n.352+8C>A
n.334+8C>A
c.482+8C>A
c.2926+8C>A (n.2926+8C>A)
c.1822+8C>A (n.1822+8C>A)
 gnomAD v4
19g.12647226G>ACA9225878MAN2B1c.2923+7C>T (n.2923+7C>T)
c.2920+7C>T (n.2920+7C>T)
n.3513+7C>T
n.352+7C>T
n.334+7C>T
c.482+7C>T
c.2926+7C>T (n.2926+7C>T)
c.1822+7C>T (n.1822+7C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.12647226G=CA2323498527MAN2B1c.2923+7C= (n.2923+7C=)
c.2920+7C= (n.2920+7C=)
n.3513+7C=
n.352+7C=
n.334+7C=
c.482+7C=
c.2926+7C= (n.2926+7C=)
c.1822+7C= (n.1822+7C=)
19g.12647226G>TCA2582717339MAN2B1c.2923+7C>A (n.2923+7C>A)
c.2920+7C>A (n.2920+7C>A)
n.3513+7C>A
n.352+7C>A
n.334+7C>A
c.482+7C>A
c.2926+7C>A (n.2926+7C>A)
c.1822+7C>A (n.1822+7C>A)
 gnomAD v4
19g.12647229C>ACA2582717340MAN2B1c.2923+4G>T (n.2923+4G>T)
c.2920+4G>T (n.2920+4G>T)
n.3513+4G>T
n.352+4G>T
n.334+4G>T
c.482+4G>T
c.2926+4G>T (n.2926+4G>T)
c.1822+4G>T (n.1822+4G>T)
 gnomAD v4
19g.12647229C>TCA2576634691MAN2B1c.2923+4G>A (n.2923+4G>A)
c.2920+4G>A (n.2920+4G>A)
n.3513+4G>A
n.352+4G>A
n.334+4G>A
c.482+4G>A
c.2926+4G>A (n.2926+4G>A)
c.1822+4G>A (n.1822+4G>A)
19g.12647231A>CCA404237161MAN2B1c.2923+2T>G (n.2923+2T>G)
c.2920+2T>G (n.2920+2T>G)
n.3513+2T>G
n.352+2T>G
n.334+2T>G
c.482+2T>G
c.2926+2T>G (n.2926+2T>G)
c.1822+2T>G (n.1822+2T>G)
 dbSNP
19g.12647231A>GCA404237163MAN2B1c.2923+2T>C (n.2923+2T>C)
c.2920+2T>C (n.2920+2T>C)
n.3513+2T>C
n.352+2T>C
n.334+2T>C
c.482+2T>C
c.2926+2T>C (n.2926+2T>C)
c.1822+2T>C (n.1822+2T>C)
19g.12647231A>TCA404237165MAN2B1c.2923+2T>A (n.2923+2T>A)
c.2920+2T>A (n.2920+2T>A)
n.3513+2T>A
n.352+2T>A
n.334+2T>A
c.482+2T>A
c.2926+2T>A (n.2926+2T>A)
c.1822+2T>A (n.1822+2T>A)
19g.12647232C>ACA404237168MAN2B1c.2923+1G>T (n.2923+1G>T)
c.2920+1G>T (n.2920+1G>T)
n.3513+1G>T
n.352+1G>T
n.334+1G>T
c.482+1G>T
c.2926+1G>T (n.2926+1G>T)
c.1822+1G>T (n.1822+1G>T)
19g.12647232C=CA2323498528MAN2B1c.2923+1G= (n.2923+1G=)
c.2920+1G= (n.2920+1G=)
n.3513+1G=
n.352+1G=
n.334+1G=
c.482+1G=
c.2926+1G= (n.2926+1G=)
c.1822+1G= (n.1822+1G=)
19g.12647232C>GCA404237169MAN2B1c.2923+1G>C (n.2923+1G>C)
c.2920+1G>C (n.2920+1G>C)
n.3513+1G>C
n.352+1G>C
n.334+1G>C
c.482+1G>C
c.2926+1G>C (n.2926+1G>C)
c.1822+1G>C (n.1822+1G>C)
19g.12647232C>TCA404237171MAN2B1c.2923+1G>A (n.2923+1G>A)
c.2920+1G>A (n.2920+1G>A)
n.3513+1G>A
n.352+1G>A
n.334+1G>A
c.482+1G>A
c.2926+1G>A (n.2926+1G>A)
c.1822+1G>A (n.1822+1G>A)
 dbSNP gnomAD v4
19g.12647232_12647239dupCA2695198130MAN2B1c.2917_2923+1dup
c.2914_2920+1dup
n.3507_3513+1dup
n.346_352+1dup
n.328_334+1dup
c.476_482+1dup
c.2920_2926+1dup
c.1816_1822+1dup
 ClinVar
19g.12647233C>ACA404237173MAN2B1c.2923G>T (p.Gly975Cys)
c.2920G>T (p.Gly974Cys)
n.3513G>T
n.352G>T
n.334G>T
c.482G>T
c.2926G>T (p.Gly976Cys)
c.1822G>T (p.Gly608Cys)
19g.12647233C>GCA404237174MAN2B1c.2923G>C (p.Gly975Arg)
c.2920G>C (p.Gly974Arg)
n.3513G>C
n.352G>C
n.334G>C
c.482G>C
c.2926G>C (p.Gly976Arg)
c.1822G>C (p.Gly608Arg)
19g.12647233C>TCA404237176MAN2B1c.2923G>A (p.Gly975Ser)
c.2920G>A (p.Gly974Ser)
n.3513G>A
n.352G>A
n.334G>A
c.482G>A
c.2926G>A (p.Gly976Ser)
c.1822G>A (p.Gly608Ser)
19g.12647233_12647234delinsCTCA2323498529MAN2B1c.2922_2923delinsAG (p.Thr974=)
c.2919_2920delinsAG (p.Thr973=)
n.3512_3513delinsAG
n.351_352delinsAG
n.333_334delinsAG
c.481_482delinsAG
c.2925_2926delinsAG (p.Thr975=)
c.1821_1822delinsAG (p.Thr607=)
19g.12647233_12647235delCA913015541MAN2B1c.2921_2923del (p.Thr974_Gly975delinsSer)
c.2918_2920del (p.Thr973_Gly974delinsSer)
n.3511_3513del
n.350_352del
n.332_334del
c.480_482del
c.2924_2926del (p.Thr975_Gly976delinsSer)
c.1820_1822del (p.Thr607_Gly608delinsSer)
19g.12647233_12647235delinsCTGCA2323498530MAN2B1c.2921_2923delinsCAG (p.Thr974=)
c.2918_2920delinsCAG (p.Thr973=)
n.3511_3513delinsCAG
n.350_352delinsCAG
n.332_334delinsCAG
c.480_482delinsCAG
c.2924_2926delinsCAG (p.Thr975=)
c.1820_1822delinsCAG (p.Thr607=)
19g.12647233_12647234insACA2582717341MAN2B1c.2922_2923insT (p.Gly975TrpfsTer?)
c.2919_2920insT (p.Gly974TrpfsTer?)
n.3512_3513insT
n.351_352insT
n.333_334insT
c.481_482insT
c.2925_2926insT (p.Gly976TrpfsTer?)
c.1821_1822insT (p.Gly608TrpfsTer?)
 gnomAD v4
19g.12647234delCA16041944MAN2B1c.2922del (p.Gly975AlafsTer?)
c.2919del (p.Gly974AlafsTer?)
n.3512del
n.351del
n.333del
c.481del
c.2925del (p.Gly976AlafsTer?)
c.1821del (p.Gly608AlafsTer?)
 ClinVar dbSNP
19g.12647234T>ACA505770527MAN2B1c.2922A>T (p.Thr974=)
c.2919A>T (p.Thr973=)
n.3512A>T
n.351A>T
n.333A>T
c.481A>T
c.2925A>T (p.Thr975=)
c.1821A>T (p.Thr607=)
19g.12647234T>CCA505770529MAN2B1c.2922A>G (p.Thr974=)
c.2919A>G (p.Thr973=)
n.3512A>G
n.351A>G
n.333A>G
c.481A>G
c.2925A>G (p.Thr975=)
c.1821A>G (p.Thr607=)
19g.12647234T>GCA505770530MAN2B1c.2922A>C (p.Thr974=)
c.2919A>C (p.Thr973=)
n.3512A>C
n.351A>C
n.333A>C
c.481A>C
c.2925A>C (p.Thr975=)
c.1821A>C (p.Thr607=)
19g.12647237_12647238delCA658824628MAN2B1c.2921_2922del (p.Thr974ArgfsTer?)
c.2918_2919del (p.Thr973ArgfsTer?)
n.3511_3512del
n.350_351del
n.332_333del
c.480_481del
c.2924_2925del (p.Thr975ArgfsTer?)
c.1820_1821del (p.Thr607ArgfsTer?)
 ClinVar dbSNP gnomAD v4
19g.12647235G>ACA404237182MAN2B1c.2921C>T (p.Thr974Ile)
c.2918C>T (p.Thr973Ile)
n.3511C>T
n.350C>T
n.332C>T
c.480C>T
c.2924C>T (p.Thr975Ile)
c.1820C>T (p.Thr607Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.12647235G>CCA404237179MAN2B1c.2921C>G (p.Thr974Arg)
c.2918C>G (p.Thr973Arg)
n.3511C>G
n.350C>G
n.332C>G
c.480C>G
c.2924C>G (p.Thr975Arg)
c.1820C>G (p.Thr607Arg)
19g.12647235G=CA2323498531MAN2B1c.2921C= (p.Thr974=)
c.2918C= (p.Thr973=)
n.3511C=
n.350C=
n.332C=
c.480C=
c.2924C= (p.Thr975=)
c.1820C= (p.Thr607=)
19g.12647235G>TCA404237184MAN2B1c.2921C>A (p.Thr974Lys)
c.2918C>A (p.Thr973Lys)
n.3511C>A
n.350C>A
n.332C>A
c.480C>A
c.2924C>A (p.Thr975Lys)
c.1820C>A (p.Thr607Lys)
 gnomAD v4
19g.12647236T>ACA404237189MAN2B1c.2920A>T (p.Thr974Ser)
c.2917A>T (p.Thr973Ser)
n.3510A>T
n.349A>T
n.331A>T
c.479A>T
c.2923A>T (p.Thr975Ser)
c.1819A>T (p.Thr607Ser)
19g.12647236T>CCA404237191MAN2B1c.2920A>G (p.Thr974Ala)
c.2917A>G (p.Thr973Ala)
n.3510A>G
n.349A>G
n.331A>G
c.479A>G
c.2923A>G (p.Thr975Ala)
c.1819A>G (p.Thr607Ala)
 dbSNP gnomAD v2 gnomAD v4
19g.12647236T>GCA404237187MAN2B1c.2920A>C (p.Thr974Pro)
c.2917A>C (p.Thr973Pro)
n.3510A>C
n.349A>C
n.331A>C
c.479A>C
c.2923A>C (p.Thr975Pro)
c.1819A>C (p.Thr607Pro)
 gnomAD v4
19g.12647236T=CA2323498532MAN2B1c.2920A= (p.Thr974=)
c.2917A= (p.Thr973=)
n.3510A=
n.349A=
n.331A=
c.479A=
c.2923A= (p.Thr975=)
c.1819A= (p.Thr607=)
19g.12647236dupCA9225879MAN2B1c.2920dup (p.Thr974AsnfsTer?)
c.2917dup (p.Thr973AsnfsTer?)
n.3510dup
n.349dup
n.331dup
c.479dup
c.2923dup (p.Thr975AsnfsTer?)
c.1819dup (p.Thr607AsnfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.12647237G>ACA505770533MAN2B1c.2919C>T (p.Asn973=)
c.2916C>T (p.Asn972=)
n.3509C>T
n.348C>T
n.330C>T
c.478C>T
c.2922C>T (p.Asn974=)
c.1818C>T (p.Asn606=)
 dbSNP gnomAD v3 gnomAD v4
19g.12647237G>CCA404237193MAN2B1c.2919C>G (p.Asn973Lys)
c.2916C>G (p.Asn972Lys)
n.3509C>G
n.348C>G
n.330C>G
c.478C>G
c.2922C>G (p.Asn974Lys)
c.1818C>G (p.Asn606Lys)
19g.12647237G>TCA404237195MAN2B1c.2919C>A (p.Asn973Lys)
c.2916C>A (p.Asn972Lys)
n.3509C>A
n.348C>A
n.330C>A
c.478C>A
c.2922C>A (p.Asn974Lys)
c.1818C>A (p.Asn606Lys)
 gnomAD v4
19g.12647238T>ACA404237197MAN2B1c.2918A>T (p.Asn973Ile)
c.2915A>T (p.Asn972Ile)
n.3508A>T
n.347A>T
n.329A>T
c.477A>T
c.2921A>T (p.Asn974Ile)
c.1817A>T (p.Asn606Ile)
19g.12647238T>CCA9225880MAN2B1c.2918A>G (p.Asn973Ser)
c.2915A>G (p.Asn972Ser)
n.3508A>G
n.347A>G
n.329A>G
c.477A>G
c.2921A>G (p.Asn974Ser)
c.1817A>G (p.Asn606Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.12647238T>GCA404237199MAN2B1c.2918A>C (p.Asn973Thr)
c.2915A>C (p.Asn972Thr)
n.3508A>C
n.347A>C
n.329A>C
c.477A>C
c.2921A>C (p.Asn974Thr)
c.1817A>C (p.Asn606Thr)
19g.12647238T=CA2323498533MAN2B1c.2918A= (p.Asn973=)
c.2915A= (p.Asn972=)
n.3508A=
n.347A=
n.329A=
c.477A=
c.2921A= (p.Asn974=)
c.1817A= (p.Asn606=)
19g.12647239T>ACA404237204MAN2B1c.2917A>T (p.Asn973Tyr)
c.2914A>T (p.Asn972Tyr)
n.3507A>T
n.346A>T
n.328A>T
c.476A>T
c.2920A>T (p.Asn974Tyr)
c.1816A>T (p.Asn606Tyr)
19g.12647239T>CCA9225881MAN2B1c.2917A>G (p.Asn973Asp)
c.2914A>G (p.Asn972Asp)
n.3507A>G
n.346A>G
n.328A>G
c.476A>G
c.2920A>G (p.Asn974Asp)
c.1816A>G (p.Asn606Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12647239T>GCA404237201MAN2B1c.2917A>C (p.Asn973His)
c.2914A>C (p.Asn972His)
n.3507A>C
n.346A>C
n.328A>C
c.476A>C
c.2920A>C (p.Asn974His)
c.1816A>C (p.Asn606His)
 COSMIC
19g.12647239T=CA2323498534MAN2B1c.2917A= (p.Asn973=)
c.2914A= (p.Asn972=)
n.3507A=
n.346A=
n.328A=
c.476A=
c.2920A= (p.Asn974=)
c.1816A= (p.Asn606=)
19g.12647240T>ACA505770535MAN2B1c.2916A>T (p.Thr972=)
c.2913A>T (p.Thr971=)
n.3506A>T
n.345A>T
n.327A>T
c.475A>T
c.2919A>T (p.Thr973=)
c.1815A>T (p.Thr605=)
19g.12647240T>CCA505770536MAN2B1c.2916A>G (p.Thr972=)
c.2913A>G (p.Thr971=)
n.3506A>G
n.345A>G
n.327A>G
c.475A>G
c.2919A>G (p.Thr973=)
c.1815A>G (p.Thr605=)
19g.12647240T>GCA505770537MAN2B1c.2916A>C (p.Thr972=)
c.2913A>C (p.Thr971=)
n.3506A>C
n.345A>C
n.327A>C
c.475A>C
c.2919A>C (p.Thr973=)
c.1815A>C (p.Thr605=)
19g.12647241delCA2582717342MAN2B1c.2915del (p.Thr972LysfsTer?)
c.2912del (p.Thr971LysfsTer?)
n.3505del
n.344del
n.326del
c.474del
c.2918del (p.Thr973LysfsTer?)
c.1814del (p.Thr605LysfsTer?)
 gnomAD v4
19g.12647241G>ACA404237206MAN2B1c.2915C>T (p.Thr972Ile)
c.2912C>T (p.Thr971Ile)
n.3505C>T
n.344C>T
n.326C>T
c.474C>T
c.2918C>T (p.Thr973Ile)
c.1814C>T (p.Thr605Ile)
19g.12647241G>CCA404237208MAN2B1c.2915C>G (p.Thr972Arg)
c.2912C>G (p.Thr971Arg)
n.3505C>G
n.344C>G
n.326C>G
c.474C>G
c.2918C>G (p.Thr973Arg)
c.1814C>G (p.Thr605Arg)
19g.12647241G>TCA404237210MAN2B1c.2915C>A (p.Thr972Lys)
c.2912C>A (p.Thr971Lys)
n.3505C>A
n.344C>A
n.326C>A
c.474C>A
c.2918C>A (p.Thr973Lys)
c.1814C>A (p.Thr605Lys)
19g.12647242T>ACA404237211MAN2B1c.2914A>T (p.Thr972Ser)
c.2911A>T (p.Thr971Ser)
n.3504A>T
n.343A>T
n.325A>T
c.473A>T
c.2917A>T (p.Thr973Ser)
c.1813A>T (p.Thr605Ser)
19g.12647242T>CCA404237213MAN2B1c.2914A>G (p.Thr972Ala)
c.2911A>G (p.Thr971Ala)
n.3504A>G
n.343A>G
n.325A>G
c.473A>G
c.2917A>G (p.Thr973Ala)
c.1813A>G (p.Thr605Ala)
19g.12647242T>GCA404237215MAN2B1c.2914A>C (p.Thr972Pro)
c.2911A>C (p.Thr971Pro)
n.3504A>C
n.343A>C
n.325A>C
c.473A>C
c.2917A>C (p.Thr973Pro)
c.1813A>C (p.Thr605Pro)
19g.12647243T>ACA505770541MAN2B1c.2913A>T (p.Thr971=)
c.2910A>T (p.Thr970=)
n.3503A>T
n.342A>T
n.324A>T
c.472A>T
c.2916A>T (p.Thr972=)
c.1812A>T (p.Thr604=)
19g.12647243T>CCA505770544MAN2B1c.2913A>G (p.Thr971=)
c.2910A>G (p.Thr970=)
n.3503A>G
n.342A>G
n.324A>G
c.472A>G
c.2916A>G (p.Thr972=)
c.1812A>G (p.Thr604=)
 ClinVar dbSNP
19g.12647243T>GCA505770542MAN2B1c.2913A>C (p.Thr971=)
c.2910A>C (p.Thr970=)
n.3503A>C
n.342A>C
n.324A>C
c.472A>C
c.2916A>C (p.Thr972=)
c.1812A>C (p.Thr604=)
19g.12647244G>ACA404237219MAN2B1c.2912C>T (p.Thr971Ile)
c.2909C>T (p.Thr970Ile)
n.3502C>T
n.341C>T
n.323C>T
c.471C>T
c.2915C>T (p.Thr972Ile)
c.1811C>T (p.Thr604Ile)
 ClinVar dbSNP
19g.12647244G>CCA404237216MAN2B1c.2912C>G (p.Thr971Arg)
c.2909C>G (p.Thr970Arg)
n.3502C>G
n.341C>G
n.323C>G
c.471C>G
c.2915C>G (p.Thr972Arg)
c.1811C>G (p.Thr604Arg)
19g.12647244G=CA2323498535MAN2B1c.2912C= (p.Thr971=)
c.2909C= (p.Thr970=)
n.3502C=
n.341C=
n.323C=
c.471C=
c.2915C= (p.Thr972=)
c.1811C= (p.Thr604=)
19g.12647244G>TCA404237217MAN2B1c.2912C>A (p.Thr971Lys)
c.2909C>A (p.Thr970Lys)
n.3502C>A
n.341C>A
n.323C>A
c.471C>A
c.2915C>A (p.Thr972Lys)
c.1811C>A (p.Thr604Lys)
19g.12647245T>ACA404237221MAN2B1c.2911A>T (p.Thr971Ser)
c.2908A>T (p.Thr970Ser)
n.3501A>T
n.340A>T
n.322A>T
c.470A>T
c.2914A>T (p.Thr972Ser)
c.1810A>T (p.Thr604Ser)
19g.12647245T>CCA9225882MAN2B1c.2911A>G (p.Thr971Ala)
c.2908A>G (p.Thr970Ala)
n.3501A>G
n.340A>G
n.322A>G
c.470A>G
c.2914A>G (p.Thr972Ala)
c.1810A>G (p.Thr604Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12647245T>GCA404237223MAN2B1c.2911A>C (p.Thr971Pro)
c.2908A>C (p.Thr970Pro)
n.3501A>C
n.340A>C
n.322A>C
c.470A>C
c.2914A>C (p.Thr972Pro)
c.1810A>C (p.Thr604Pro)
19g.12647245T=CA2323498536MAN2B1c.2911A= (p.Thr971=)
c.2908A= (p.Thr970=)
n.3501A=
n.340A=
n.322A=
c.470A=
c.2914A= (p.Thr972=)
c.1810A= (p.Thr604=)
19g.12647246C>ACA404237225MAN2B1c.2910G>T (p.Trp970Cys)
c.2907G>T (p.Trp969Cys)
n.3500G>T
n.339G>T
n.321G>T
c.469G>T
c.2913G>T (p.Trp971Cys)
c.1809G>T (p.Trp603Cys)
19g.12647246C>GCA404237227MAN2B1c.2910G>C (p.Trp970Cys)
c.2907G>C (p.Trp969Cys)
n.3500G>C
n.339G>C
n.321G>C
c.469G>C
c.2913G>C (p.Trp971Cys)
c.1809G>C (p.Trp603Cys)
19g.12647246C>TCA404237229MAN2B1c.2910G>A (p.Trp970Ter)
c.2907G>A (p.Trp969Ter)
n.3500G>A
n.339G>A
n.321G>A
c.469G>A
c.2913G>A (p.Trp971Ter)
c.1809G>A (p.Trp603Ter)
19g.12647247C>ACA404237235MAN2B1c.2909G>T (p.Trp970Leu)
c.2906G>T (p.Trp969Leu)
n.3499G>T
n.338G>T
n.320G>T
c.468G>T
c.2912G>T (p.Trp971Leu)
c.1808G>T (p.Trp603Leu)
 COSMIC
19g.12647247C>GCA404237231MAN2B1c.2909G>C (p.Trp970Ser)
c.2906G>C (p.Trp969Ser)
n.3499G>C
n.338G>C
n.320G>C
c.468G>C
c.2912G>C (p.Trp971Ser)
c.1808G>C (p.Trp603Ser)
19g.12647247C>TCA404237233MAN2B1c.2909G>A (p.Trp970Ter)
c.2906G>A (p.Trp969Ter)
n.3499G>A
n.338G>A
n.320G>A
c.468G>A
c.2912G>A (p.Trp971Ter)
c.1808G>A (p.Trp603Ter)
19g.12647248A>CCA404237237MAN2B1c.2908T>G (p.Trp970Gly)
c.2905T>G (p.Trp969Gly)
n.3498T>G
n.337T>G
n.319T>G
c.467T>G
c.2911T>G (p.Trp971Gly)
c.1807T>G (p.Trp603Gly)
19g.12647248A>GCA404237239MAN2B1c.2908T>C (p.Trp970Arg)
c.2905T>C (p.Trp969Arg)
n.3498T>C
n.337T>C
n.319T>C
c.467T>C
c.2911T>C (p.Trp971Arg)
c.1807T>C (p.Trp603Arg)
19g.12647248A>TCA404237241MAN2B1c.2908T>A (p.Trp970Arg)
c.2905T>A (p.Trp969Arg)
n.3498T>A
n.337T>A
n.319T>A
c.467T>A
c.2911T>A (p.Trp971Arg)
c.1807T>A (p.Trp603Arg)
19g.12647249C>ACA404237243MAN2B1c.2907G>T (p.Lys969Asn)
c.2904G>T (p.Lys968Asn)
n.3497G>T
n.336G>T
n.318G>T
c.466G>T
c.2910G>T (p.Lys970Asn)
c.1806G>T (p.Lys602Asn)
19g.12647249C>GCA404237245MAN2B1c.2907G>C (p.Lys969Asn)
c.2904G>C (p.Lys968Asn)
n.3497G>C
n.336G>C
n.318G>C
c.466G>C
c.2910G>C (p.Lys970Asn)
c.1806G>C (p.Lys602Asn)
19g.12647249C>TCA505770548MAN2B1c.2907G>A (p.Lys969=)
c.2904G>A (p.Lys968=)
n.3497G>A
n.336G>A
n.318G>A
c.466G>A
c.2910G>A (p.Lys970=)
c.1806G>A (p.Lys602=)
19g.12647250T>ACA404237247MAN2B1c.2906A>T (p.Lys969Met)
c.2903A>T (p.Lys968Met)
n.3496A>T
n.335A>T
n.317A>T
c.465A>T
c.2909A>T (p.Lys970Met)
c.1805A>T (p.Lys602Met)
19g.12647250T>CCA404237251MAN2B1c.2906A>G (p.Lys969Arg)
c.2903A>G (p.Lys968Arg)
n.3496A>G
n.335A>G
n.317A>G
c.465A>G
c.2909A>G (p.Lys970Arg)
c.1805A>G (p.Lys602Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.12647250T>GCA404237249MAN2B1c.2906A>C (p.Lys969Thr)
c.2903A>C (p.Lys968Thr)
n.3496A>C
n.335A>C
n.317A>C
c.465A>C
c.2909A>C (p.Lys970Thr)
c.1805A>C (p.Lys602Thr)
19g.12647250T=CA2323498537MAN2B1c.2906A= (p.Lys969=)
c.2903A= (p.Lys968=)
n.3496A=
n.335A=
n.317A=
c.465A=
c.2909A= (p.Lys970=)
c.1805A= (p.Lys602=)
19g.12647251T>ACA404237252MAN2B1c.2905A>T (p.Lys969Ter)
c.2902A>T (p.Lys968Ter)
n.3495A>T
n.334A>T
n.316A>T
c.464A>T
c.2908A>T (p.Lys970Ter)
c.1804A>T (p.Lys602Ter)
19g.12647251T>CCA305459840MAN2B1c.2905A>G (p.Lys969Glu)
c.2902A>G (p.Lys968Glu)
n.3495A>G
n.334A>G
n.316A>G
c.464A>G
c.2908A>G (p.Lys970Glu)
c.1804A>G (p.Lys602Glu)
 dbSNP gnomAD v3 gnomAD v4
19g.12647251T>GCA404237253MAN2B1c.2905A>C (p.Lys969Gln)
c.2902A>C (p.Lys968Gln)
n.3495A>C
n.334A>C
n.316A>C
c.464A>C
c.2908A>C (p.Lys970Gln)
c.1804A>C (p.Lys602Gln)
19g.12647251T=CA2323498538MAN2B1c.2905A= (p.Lys969=)
c.2902A= (p.Lys968=)
n.3495A=
n.334A=
n.316A=
c.464A=
c.2908A= (p.Lys970=)
c.1804A= (p.Lys602=)
19g.12647252G>ACA505770550MAN2B1c.2904C>T (p.Leu968=)
c.2901C>T (p.Leu967=)
n.3494C>T
n.333C>T
n.315C>T
c.463C>T
c.2907C>T (p.Leu969=)
c.1803C>T (p.Leu601=)
 gnomAD v4
19g.12647252G>CCA505770551MAN2B1c.2904C>G (p.Leu968=)
c.2901C>G (p.Leu967=)
n.3494C>G
n.333C>G
n.315C>G
c.463C>G
c.2907C>G (p.Leu969=)
c.1803C>G (p.Leu601=)
 dbSNP gnomAD v3 gnomAD v4
19g.12647252G=CA2323498539MAN2B1c.2904C= (p.Leu968=)
c.2901C= (p.Leu967=)
n.3494C=
n.333C=
n.315C=
c.463C=
c.2907C= (p.Leu969=)
c.1803C= (p.Leu601=)
19g.12647252G>TCA505770552MAN2B1c.2904C>A (p.Leu968=)
c.2901C>A (p.Leu967=)
n.3494C>A
n.333C>A
n.315C>A
c.463C>A
c.2907C>A (p.Leu969=)
c.1803C>A (p.Leu601=)
19g.12647253A=CA2323498540MAN2B1c.2903T= (p.Leu968=)
c.2900T= (p.Leu967=)
n.3493T=
n.332T=
n.314T=
c.462T=
c.2906T= (p.Leu969=)
c.1802T= (p.Leu601=)
19g.12647253A>CCA404237256MAN2B1c.2903T>G (p.Leu968Arg)
c.2900T>G (p.Leu967Arg)
n.3493T>G
n.332T>G
n.314T>G
c.462T>G
c.2906T>G (p.Leu969Arg)
c.1802T>G (p.Leu601Arg)
19g.12647253A>GCA9225883MAN2B1c.2903T>C (p.Leu968Pro)
c.2900T>C (p.Leu967Pro)
n.3493T>C
n.332T>C
n.314T>C
c.462T>C
c.2906T>C (p.Leu969Pro)
c.1802T>C (p.Leu601Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12647253A>TCA404237259MAN2B1c.2903T>A (p.Leu968His)
c.2900T>A (p.Leu967His)
n.3493T>A
n.332T>A
n.314T>A
c.462T>A
c.2906T>A (p.Leu969His)
c.1802T>A (p.Leu601His)
 gnomAD v4
19g.12647253_12647269delinsAGCCTGGAGGCTGCCTCCA2323498541MAN2B1c.2887_2903delinsGAGGCAGCCTCCAGGCT (p.Glu963=)
c.2884_2900delinsGAGGCAGCCTCCAGGCT (p.Glu962=)
n.3477_3493delinsGAGGCAGCCTCCAGGCT
n.316_332delinsGAGGCAGCCTCCAGGCT
n.298_314delinsGAGGCAGCCTCCAGGCT
c.446_462delinsGAGGCAGCCTCCAGGCT
c.2890_2906delinsGAGGCAGCCTCCAGGCT (p.Glu964=)
c.1786_1802delinsGAGGCAGCCTCCAGGCT (p.Glu596=)
19g.12647254G>ACA404237261MAN2B1c.2902C>T (p.Leu968Phe)
c.2899C>T (p.Leu967Phe)
n.3492C>T
n.331C>T
n.313C>T
c.461C>T
c.2905C>T (p.Leu969Phe)
c.1801C>T (p.Leu601Phe)
19g.12647254G>CCA404237262MAN2B1c.2902C>G (p.Leu968Val)
c.2899C>G (p.Leu967Val)
n.3492C>G
n.331C>G
n.313C>G
c.461C>G
c.2905C>G (p.Leu969Val)
c.1801C>G (p.Leu601Val)
19g.12647254G>TCA404237264MAN2B1c.2902C>A (p.Leu968Ile)
c.2899C>A (p.Leu967Ile)
n.3492C>A
n.331C>A
n.313C>A
c.461C>A
c.2905C>A (p.Leu969Ile)
c.1801C>A (p.Leu601Ile)
19g.12647256_12647271delCA1139666292MAN2B1c.2887_2902del (p.Glu963SerfsTer?)
c.2884_2899del (p.Glu962SerfsTer?)
n.3477_3492del
n.316_331del
n.298_313del
c.446_461del
c.2890_2905del (p.Glu964SerfsTer?)
c.1786_1801del (p.Glu596SerfsTer?)
 ClinVar dbSNP
19g.12647255C>ACA404237266MAN2B1c.2901G>T (p.Arg967Ser)
c.2898G>T (p.Arg966Ser)
n.3491G>T
n.330G>T
n.312G>T
c.460G>T
c.2904G>T (p.Arg968Ser)
c.1800G>T (p.Arg600Ser)
19g.12647255C>GCA404237267MAN2B1c.2901G>C (p.Arg967Ser)
c.2898G>C (p.Arg966Ser)
n.3491G>C
n.330G>C
n.312G>C
c.460G>C
c.2904G>C (p.Arg968Ser)
c.1800G>C (p.Arg600Ser)
19g.12647255C>TCA505770554MAN2B1c.2901G>A (p.Arg967=)
c.2898G>A (p.Arg966=)
n.3491G>A
n.330G>A
n.312G>A
c.460G>A
c.2904G>A (p.Arg968=)
c.1800G>A (p.Arg600=)
 COSMIC
19g.12647256C>ACA404237270MAN2B1c.2900G>T (p.Arg967Met)
c.2897G>T (p.Arg966Met)
n.3490G>T
n.329G>T
n.311G>T
c.459G>T
c.2903G>T (p.Arg968Met)
c.1799G>T (p.Arg600Met)
19g.12647256C>GCA404237271MAN2B1c.2900G>C (p.Arg967Thr)
c.2897G>C (p.Arg966Thr)
n.3490G>C
n.329G>C
n.311G>C
c.459G>C
c.2903G>C (p.Arg968Thr)
c.1799G>C (p.Arg600Thr)
19g.12647256C>TCA404237272MAN2B1c.2900G>A (p.Arg967Lys)
c.2897G>A (p.Arg966Lys)
n.3490G>A
n.329G>A
n.311G>A
c.459G>A
c.2903G>A (p.Arg968Lys)
c.1799G>A (p.Arg600Lys)
 COSMIC
19g.12647257T>ACA404237275MAN2B1c.2899A>T (p.Arg967Trp)
c.2896A>T (p.Arg966Trp)
n.3489A>T
n.328A>T
n.310A>T
c.458A>T
c.2902A>T (p.Arg968Trp)
c.1798A>T (p.Arg600Trp)
 gnomAD v4
19g.12647257T>CCA404237274MAN2B1c.2899A>G (p.Arg967Gly)
c.2896A>G (p.Arg966Gly)
n.3489A>G
n.328A>G
n.310A>G
c.458A>G
c.2902A>G (p.Arg968Gly)
c.1798A>G (p.Arg600Gly)
 dbSNP
19g.12647257T>GCA505770555MAN2B1c.2899A>C (p.Arg967=)
c.2896A>C (p.Arg966=)
n.3489A>C
n.328A>C
n.310A>C
c.458A>C
c.2902A>C (p.Arg968=)
c.1798A>C (p.Arg600=)
19g.12647257T=CA2323498542MAN2B1c.2899A= (p.Arg967=)
c.2896A= (p.Arg966=)
n.3489A=
n.328A=
n.310A=
c.458A=
c.2902A= (p.Arg968=)
c.1798A= (p.Arg600=)
19g.12647258G>ACA505770557MAN2B1c.2898C>T (p.Ser966=)
c.2895C>T (p.Ser965=)
n.3488C>T
n.327C>T
n.309C>T
c.457C>T
c.2901C>T (p.Ser967=)
c.1797C>T (p.Ser599=)
 ClinVar dbSNP
19g.12647258G>CCA505770558MAN2B1c.2898C>G (p.Ser966=)
c.2895C>G (p.Ser965=)
n.3488C>G
n.327C>G
n.309C>G
c.457C>G
c.2901C>G (p.Ser967=)
c.1797C>G (p.Ser599=)
19g.12647258G>TCA505770559MAN2B1c.2898C>A (p.Ser966=)
c.2895C>A (p.Ser965=)
n.3488C>A
n.327C>A
n.309C>A
c.457C>A
c.2901C>A (p.Ser967=)
c.1797C>A (p.Ser599=)
19g.12647262_12647275delCA2697556344MAN2B1c.2885_2898del (p.Arg962GlnfsTer?)
c.2882_2895del (p.Arg961GlnfsTer?)
n.3475_3488del
n.314_327del
n.296_309del
c.444_457del
c.2888_2901del (p.Arg963GlnfsTer?)
c.1784_1797del (p.Arg595GlnfsTer?)
 ClinVar
19g.12647259G>ACA404237278MAN2B1c.2897C>T (p.Ser966Phe)
c.2894C>T (p.Ser965Phe)
n.3487C>T
n.326C>T
n.308C>T
c.456C>T
c.2900C>T (p.Ser967Phe)
c.1796C>T (p.Ser599Phe)
 gnomAD v4
19g.12647259G>CCA404237279MAN2B1c.2897C>G (p.Ser966Cys)
c.2894C>G (p.Ser965Cys)
n.3487C>G
n.326C>G
n.308C>G
c.456C>G
c.2900C>G (p.Ser967Cys)
c.1796C>G (p.Ser599Cys)
19g.12647259G>TCA404237281MAN2B1c.2897C>A (p.Ser966Tyr)
c.2894C>A (p.Ser965Tyr)
n.3487C>A
n.326C>A
n.308C>A
c.456C>A
c.2900C>A (p.Ser967Tyr)
c.1796C>A (p.Ser599Tyr)
 gnomAD v4
19g.12647260A=CA2323498543MAN2B1c.2896T= (p.Ser966=)
c.2893T= (p.Ser965=)
n.3486T=
n.325T=
n.307T=
c.455T=
c.2899T= (p.Ser967=)
c.1795T= (p.Ser599=)
19g.12647260A>CCA404237284MAN2B1c.2896T>G (p.Ser966Ala)
c.2893T>G (p.Ser965Ala)
n.3486T>G
n.325T>G
n.307T>G
c.455T>G
c.2899T>G (p.Ser967Ala)
c.1795T>G (p.Ser599Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.12647260A>GCA404237285MAN2B1c.2896T>C (p.Ser966Pro)
c.2893T>C (p.Ser965Pro)
n.3486T>C
n.325T>C
n.307T>C
c.455T>C
c.2899T>C (p.Ser967Pro)
c.1795T>C (p.Ser599Pro)
19g.12647260A>TCA404237286MAN2B1c.2896T>A (p.Ser966Thr)
c.2893T>A (p.Ser965Thr)
n.3486T>A
n.325T>A
n.307T>A
c.455T>A
c.2899T>A (p.Ser967Thr)
c.1795T>A (p.Ser599Thr)
19g.12647261G>ACA505770563MAN2B1c.2895C>T (p.Ala965=)
c.2892C>T (p.Ala964=)
n.3485C>T
n.324C>T
n.306C>T
c.454C>T
c.2898C>T (p.Ala966=)
c.1794C>T (p.Ala598=)
 dbSNP gnomAD v2 gnomAD v4
19g.12647261G>CCA505770562MAN2B1c.2895C>G (p.Ala965=)
c.2892C>G (p.Ala964=)
n.3485C>G
n.324C>G
n.306C>G
c.454C>G
c.2898C>G (p.Ala966=)
c.1794C>G (p.Ala598=)
 gnomAD v4
19g.12647261G=CA2323498544MAN2B1c.2895C= (p.Ala965=)
c.2892C= (p.Ala964=)
n.3485C=
n.324C=
n.306C=
c.454C=
c.2898C= (p.Ala966=)
c.1794C= (p.Ala598=)
19g.12647261G>TCA505770561MAN2B1c.2895C>A (p.Ala965=)
c.2892C>A (p.Ala964=)
n.3485C>A
n.324C>A
n.306C>A
c.454C>A
c.2898C>A (p.Ala966=)
c.1794C>A (p.Ala598=)
 gnomAD v4
19g.12647262G>ACA404237287MAN2B1c.2894C>T (p.Ala965Val)
c.2891C>T (p.Ala964Val)
n.3484C>T
n.323C>T
n.305C>T
c.453C>T
c.2897C>T (p.Ala966Val)
c.1793C>T (p.Ala598Val)
 gnomAD v4
19g.12647262G>CCA404237288MAN2B1c.2894C>G (p.Ala965Gly)
c.2891C>G (p.Ala964Gly)
n.3484C>G
n.323C>G
n.305C>G
c.453C>G
c.2897C>G (p.Ala966Gly)
c.1793C>G (p.Ala598Gly)
19g.12647262G>TCA404237289MAN2B1c.2894C>A (p.Ala965Asp)
c.2891C>A (p.Ala964Asp)
n.3484C>A
n.323C>A
n.305C>A
c.453C>A
c.2897C>A (p.Ala966Asp)
c.1793C>A (p.Ala598Asp)
19g.12647263C>ACA404237290MAN2B1c.2893G>T (p.Ala965Ser)
c.2890G>T (p.Ala964Ser)
n.3483G>T
n.322G>T
n.304G>T
c.452G>T
c.2896G>T (p.Ala966Ser)
c.1792G>T (p.Ala598Ser)
19g.12647263C=CA2323498545MAN2B1c.2893G= (p.Ala965=)
c.2890G= (p.Ala964=)
n.3483G=
n.322G=
n.304G=
c.452G=
c.2896G= (p.Ala966=)
c.1792G= (p.Ala598=)
19g.12647263C>GCA404237291MAN2B1c.2893G>C (p.Ala965Pro)
c.2890G>C (p.Ala964Pro)
n.3483G>C
n.322G>C
n.304G>C
c.452G>C
c.2896G>C (p.Ala966Pro)
c.1792G>C (p.Ala598Pro)
19g.12647263C>TCA9225884MAN2B1c.2893G>A (p.Ala965Thr)
c.2890G>A (p.Ala964Thr)
n.3483G>A
n.322G>A
n.304G>A
c.452G>A
c.2896G>A (p.Ala966Thr)
c.1792G>A (p.Ala598Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12647264T>ACA505770565MAN2B1c.2892A>T (p.Ala964=)
c.2889A>T (p.Ala963=)
n.3482A>T
n.321A>T
n.303A>T
c.451A>T
c.2895A>T (p.Ala965=)
c.1791A>T (p.Ala597=)
19g.12647264T>CCA9225885MAN2B1c.2892A>G (p.Ala964=)
c.2889A>G (p.Ala963=)
n.3482A>G
n.321A>G
n.303A>G
c.451A>G
c.2895A>G (p.Ala965=)
c.1791A>G (p.Ala597=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12647264T>GCA505770566MAN2B1c.2892A>C (p.Ala964=)
c.2889A>C (p.Ala963=)
n.3482A>C
n.321A>C
n.303A>C
c.451A>C
c.2895A>C (p.Ala965=)
c.1791A>C (p.Ala597=)
19g.12647264T=CA2323498546MAN2B1c.2892A= (p.Ala964=)
c.2889A= (p.Ala963=)
n.3482A=
n.321A=
n.303A=
c.451A=
c.2895A= (p.Ala965=)
c.1791A= (p.Ala597=)
19g.12647265G>ACA404237293MAN2B1c.2891C>T (p.Ala964Val)
c.2888C>T (p.Ala963Val)
n.3481C>T
n.320C>T
n.302C>T
c.450C>T
c.2894C>T (p.Ala965Val)
c.1790C>T (p.Ala597Val)
19g.12647265G>CCA404237296MAN2B1c.2891C>G (p.Ala964Gly)
c.2888C>G (p.Ala963Gly)
n.3481C>G
n.320C>G
n.302C>G
c.450C>G
c.2894C>G (p.Ala965Gly)
c.1790C>G (p.Ala597Gly)
19g.12647265G>TCA404237295MAN2B1c.2891C>A (p.Ala964Glu)
c.2888C>A (p.Ala963Glu)
n.3481C>A
n.320C>A
n.302C>A
c.450C>A
c.2894C>A (p.Ala965Glu)
c.1790C>A (p.Ala597Glu)
19g.12647266C>ACA404237298MAN2B1c.2890G>T (p.Ala964Ser)
c.2887G>T (p.Ala963Ser)
n.3480G>T
n.319G>T
n.301G>T
c.449G>T
c.2893G>T (p.Ala965Ser)
c.1789G>T (p.Ala597Ser)
19g.12647266C>GCA404237302MAN2B1c.2890G>C (p.Ala964Pro)
c.2887G>C (p.Ala963Pro)
n.3480G>C
n.319G>C
n.301G>C
c.449G>C
c.2893G>C (p.Ala965Pro)
c.1789G>C (p.Ala597Pro)
19g.12647266C>TCA404237300MAN2B1c.2890G>A (p.Ala964Thr)
c.2887G>A (p.Ala963Thr)
n.3480G>A
n.319G>A
n.301G>A
c.449G>A
c.2893G>A (p.Ala965Thr)
c.1789G>A (p.Ala597Thr)
19g.12647267C>ACA404237304MAN2B1c.2889G>T (p.Glu963Asp)
c.2886G>T (p.Glu962Asp)
n.3479G>T
n.318G>T
n.300G>T
c.448G>T
c.2892G>T (p.Glu964Asp)
c.1788G>T (p.Glu596Asp)
19g.12647267C>GCA404237306MAN2B1c.2889G>C (p.Glu963Asp)
c.2886G>C (p.Glu962Asp)
n.3479G>C
n.318G>C
n.300G>C
c.448G>C
c.2892G>C (p.Glu964Asp)
c.1788G>C (p.Glu596Asp)
19g.12647267C>TCA505770570MAN2B1c.2889G>A (p.Glu963=)
c.2886G>A (p.Glu962=)
n.3479G>A
n.318G>A
n.300G>A
c.448G>A
c.2892G>A (p.Glu964=)
c.1788G>A (p.Glu596=)
 gnomAD v4
19g.12647268T>ACA404237308MAN2B1c.2888A>T (p.Glu963Val)
c.2885A>T (p.Glu962Val)
n.3478A>T
n.317A>T
n.299A>T
c.447A>T
c.2891A>T (p.Glu964Val)
c.1787A>T (p.Glu596Val)
19g.12647268T>CCA404237309MAN2B1c.2888A>G (p.Glu963Gly)
c.2885A>G (p.Glu962Gly)
n.3478A>G
n.317A>G
n.299A>G
c.447A>G
c.2891A>G (p.Glu964Gly)
c.1787A>G (p.Glu596Gly)
19g.12647268T>GCA404237312MAN2B1c.2888A>C (p.Glu963Ala)
c.2885A>C (p.Glu962Ala)
n.3478A>C
n.317A>C
n.299A>C
c.447A>C
c.2891A>C (p.Glu964Ala)
c.1787A>C (p.Glu596Ala)
19g.12647269delCA2573156055MAN2B1c.2887del (p.Glu963ArgfsTer?)
c.2884del (p.Glu962ArgfsTer?)
n.3477del
n.316del
n.298del
c.446del
c.2890del (p.Glu964ArgfsTer?)
c.1786del (p.Glu596ArgfsTer?)
 ClinVar dbSNP gnomAD v4
19g.12647269C>ACA404237314MAN2B1c.2887G>T (p.Glu963Ter)
c.2884G>T (p.Glu962Ter)
n.3477G>T
n.316G>T
n.298G>T
c.446G>T
c.2890G>T (p.Glu964Ter)
c.1786G>T (p.Glu596Ter)
 ClinVar dbSNP gnomAD v4
19g.12647269C=CA2323498547MAN2B1c.2887G= (p.Glu963=)
c.2884G= (p.Glu962=)
n.3477G=
n.316G=
n.298G=
c.446G=
c.2890G= (p.Glu964=)
c.1786G= (p.Glu596=)
19g.12647269C>GCA404237316MAN2B1c.2887G>C (p.Glu963Gln)
c.2884G>C (p.Glu962Gln)
n.3477G>C
n.316G>C
n.298G>C
c.446G>C
c.2890G>C (p.Glu964Gln)
c.1786G>C (p.Glu596Gln)
 gnomAD v4
19g.12647269C>TCA9225886MAN2B1c.2887G>A (p.Glu963Lys)
c.2884G>A (p.Glu962Lys)
n.3477G>A
n.316G>A
n.298G>A
c.446G>A
c.2890G>A (p.Glu964Lys)
c.1786G>A (p.Glu596Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.12647270G>ACA9225887MAN2B1c.2886C>T (p.Arg962=)
c.2883C>T (p.Arg961=)
n.3476C>T
n.315C>T
n.297C>T
c.445C>T
c.2889C>T (p.Arg963=)
c.1785C>T (p.Arg595=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.12647270G>CCA505770574MAN2B1c.2886C>G (p.Arg962=)
c.2883C>G (p.Arg961=)
n.3476C>G
n.315C>G
n.297C>G
c.445C>G
c.2889C>G (p.Arg963=)
c.1785C>G (p.Arg595=)
 dbSNP
19g.12647270G=CA2323498548MAN2B1c.2886C= (p.Arg962=)
c.2883C= (p.Arg961=)
n.3476C=
n.315C=
n.297C=
c.445C=
c.2889C= (p.Arg963=)
c.1785C= (p.Arg595=)
19g.12647270G>TCA505770575MAN2B1c.2886C>A (p.Arg962=)
c.2883C>A (p.Arg961=)
n.3476C>A
n.315C>A
n.297C>A
c.445C>A
c.2889C>A (p.Arg963=)
c.1785C>A (p.Arg595=)
19g.12647271C>ACA404237320MAN2B1c.2885G>T (p.Arg962Leu)
c.2882G>T (p.Arg961Leu)
n.3475G>T
n.314G>T
n.296G>T
c.444G>T
c.2888G>T (p.Arg963Leu)
c.1784G>T (p.Arg595Leu)
 dbSNP gnomAD v2 COSMIC
19g.12647271C=CA2323498549MAN2B1c.2885G= (p.Arg962=)
c.2882G= (p.Arg961=)
n.3475G=
n.314G=
n.296G=
c.444G=
c.2888G= (p.Arg963=)
c.1784G= (p.Arg595=)
19g.12647271C>GCA404237322MAN2B1c.2885G>C (p.Arg962Pro)
c.2882G>C (p.Arg961Pro)
n.3475G>C
n.314G>C
n.296G>C
c.444G>C
c.2888G>C (p.Arg963Pro)
c.1784G>C (p.Arg595Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.12647271C>TCA9225888MAN2B1c.2885G>A (p.Arg962His)
c.2882G>A (p.Arg961His)
n.3475G>A
n.314G>A
n.296G>A
c.444G>A
c.2888G>A (p.Arg963His)
c.1784G>A (p.Arg595His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12647272G>ACA9225889MAN2B1c.2884C>T (p.Arg962Cys)
c.2881C>T (p.Arg961Cys)
n.3474C>T
n.313C>T
n.295C>T
c.443C>T
c.2887C>T (p.Arg963Cys)
c.1783C>T (p.Arg595Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12647272G>CCA404237325MAN2B1c.2884C>G (p.Arg962Gly)
c.2881C>G (p.Arg961Gly)
n.3474C>G
n.313C>G
n.295C>G
c.443C>G
c.2887C>G (p.Arg963Gly)
c.1783C>G (p.Arg595Gly)
19g.12647272G=CA2323498550MAN2B1c.2884C= (p.Arg962=)
c.2881C= (p.Arg961=)
n.3474C=
n.313C=
n.295C=
c.443C=
c.2887C= (p.Arg963=)
c.1783C= (p.Arg595=)
19g.12647272G>TCA404237327MAN2B1c.2884C>A (p.Arg962Ser)
c.2881C>A (p.Arg961Ser)
n.3474C>A
n.313C>A
n.295C>A
c.443C>A
c.2887C>A (p.Arg963Ser)
c.1783C>A (p.Arg595Ser)
19g.12647273G>ACA505770576MAN2B1c.2883C>T (p.Leu961=)
c.2880C>T (p.Leu960=)
n.3473C>T
n.312C>T
n.294C>T
c.442C>T
c.2886C>T (p.Leu962=)
c.1782C>T (p.Leu594=)
 dbSNP gnomAD v4
19g.12647273G>CCA505770577MAN2B1c.2883C>G (p.Leu961=)
c.2880C>G (p.Leu960=)
n.3473C>G
n.312C>G
n.294C>G
c.442C>G
c.2886C>G (p.Leu962=)
c.1782C>G (p.Leu594=)
19g.12647273G=CA2323498551MAN2B1c.2883C= (p.Leu961=)
c.2880C= (p.Leu960=)
n.3473C=
n.312C=
n.294C=
c.442C=
c.2886C= (p.Leu962=)
c.1782C= (p.Leu594=)
19g.12647273G>TCA505770578MAN2B1c.2883C>A (p.Leu961=)
c.2880C>A (p.Leu960=)
n.3473C>A
n.312C>A
n.294C>A
c.442C>A
c.2886C>A (p.Leu962=)
c.1782C>A (p.Leu594=)
 ClinVar dbSNP gnomAD v4
19g.12647274A=CA2323498552MAN2B1c.2882T= (p.Leu961=)
c.2879T= (p.Leu960=)
n.3472T=
n.311T=
n.293T=
c.441T=
c.2885T= (p.Leu962=)
c.1781T= (p.Leu594=)
19g.12647274A>CCA404237330MAN2B1c.2882T>G (p.Leu961Arg)
c.2879T>G (p.Leu960Arg)
n.3472T>G
n.311T>G
n.293T>G
c.441T>G
c.2885T>G (p.Leu962Arg)
c.1781T>G (p.Leu594Arg)
19g.12647274A>GCA404237331MAN2B1c.2882T>C (p.Leu961Pro)
c.2879T>C (p.Leu960Pro)
n.3472T>C
n.311T>C
n.293T>C
c.441T>C
c.2885T>C (p.Leu962Pro)
c.1781T>C (p.Leu594Pro)
19g.12647274A>TCA404237332MAN2B1c.2882T>A (p.Leu961His)
c.2879T>A (p.Leu960His)
n.3472T>A
n.311T>A
n.293T>A
c.441T>A
c.2885T>A (p.Leu962His)
c.1781T>A (p.Leu594His)
 dbSNP gnomAD v4
19g.12647275G>ACA404237334MAN2B1c.2881C>T (p.Leu961Phe)
c.2878C>T (p.Leu960Phe)
n.3471C>T
n.310C>T
n.292C>T
c.440C>T
c.2884C>T (p.Leu962Phe)
c.1780C>T (p.Leu594Phe)
 gnomAD v4
19g.12647275G>CCA404237335MAN2B1c.2881C>G (p.Leu961Val)
c.2878C>G (p.Leu960Val)
n.3471C>G
n.310C>G
n.292C>G
c.440C>G
c.2884C>G (p.Leu962Val)
c.1780C>G (p.Leu594Val)
19g.12647275G>TCA404237337MAN2B1c.2881C>A (p.Leu961Ile)
c.2878C>A (p.Leu960Ile)
n.3471C>A
n.310C>A
n.292C>A
c.440C>A
c.2884C>A (p.Leu962Ile)
c.1780C>A (p.Leu594Ile)
19g.12647276C>ACA404237339MAN2B1c.2880G>T (p.Gln960His)
c.2877G>T (p.Gln959His)
n.3470G>T
n.309G>T
n.291G>T
c.439G>T
c.2883G>T (p.Gln961His)
c.1779G>T (p.Gln593His)
19g.12647276C>GCA404237341MAN2B1c.2880G>C (p.Gln960His)
c.2877G>C (p.Gln959His)
n.3470G>C
n.309G>C
n.291G>C
c.439G>C
c.2883G>C (p.Gln961His)
c.1779G>C (p.Gln593His)
19g.12647276C>TCA505770580MAN2B1c.2880G>A (p.Gln960=)
c.2877G>A (p.Gln959=)
n.3470G>A
n.309G>A
n.291G>A
c.439G>A
c.2883G>A (p.Gln961=)
c.1779G>A (p.Gln593=)
19g.12647276_12647292delinsCTGGTTGGCCACCAGCGCA2323498553MAN2B1c.2864_2880delinsCGCTGGTGGCCAACCAG (p.Thr955=)
c.2861_2877delinsCGCTGGTGGCCAACCAG (p.Thr954=)
n.3454_3470delinsCGCTGGTGGCCAACCAG
n.293_309delinsCGCTGGTGGCCAACCAG
n.275_291delinsCGCTGGTGGCCAACCAG
c.423_439delinsCGCTGGTGGCCAACCAG
c.2867_2883delinsCGCTGGTGGCCAACCAG (p.Thr956=)
c.1763_1779delinsCGCTGGTGGCCAACCAG (p.Thr588=)
19g.12647277T>ACA404237343MAN2B1c.2879A>T (p.Gln960Leu)
c.2876A>T (p.Gln959Leu)
n.3469A>T
n.308A>T
n.290A>T
c.438A>T
c.2882A>T (p.Gln961Leu)
c.1778A>T (p.Gln593Leu)
19g.12647277T>CCA404237344MAN2B1c.2879A>G (p.Gln960Arg)
c.2876A>G (p.Gln959Arg)
n.3469A>G
n.308A>G
n.290A>G
c.438A>G
c.2882A>G (p.Gln961Arg)
c.1778A>G (p.Gln593Arg)
 ClinVar dbSNP
19g.12647277T>GCA404237347MAN2B1c.2879A>C (p.Gln960Pro)
c.2876A>C (p.Gln959Pro)
n.3469A>C
n.308A>C
n.290A>C
c.438A>C
c.2882A>C (p.Gln961Pro)
c.1778A>C (p.Gln593Pro)
19g.12647277T=CA2323498554MAN2B1c.2879A= (p.Gln960=)
c.2876A= (p.Gln959=)
n.3469A=
n.308A=
n.290A=
c.438A=
c.2882A= (p.Gln961=)
c.1778A= (p.Gln593=)
19g.12647281_12647296delCA915952880MAN2B1c.2864_2879del (p.Thr955SerfsTer?)
c.2861_2876del (p.Thr954SerfsTer?)
n.3454_3469del
n.293_308del
n.275_290del
c.423_438del
c.2867_2882del (p.Thr956SerfsTer?)
c.1763_1778del (p.Thr588SerfsTer?)
 ClinVar dbSNP
19g.12647278G>ACA404237351MAN2B1c.2878C>T (p.Gln960Ter)
c.2875C>T (p.Gln959Ter)
n.3468C>T
n.307C>T
n.289C>T
c.437C>T
c.2881C>T (p.Gln961Ter)
c.1777C>T (p.Gln593Ter)
19g.12647278G>CCA404237350MAN2B1c.2878C>G (p.Gln960Glu)
c.2875C>G (p.Gln959Glu)
n.3468C>G
n.307C>G
n.289C>G
c.437C>G
c.2881C>G (p.Gln961Glu)
c.1777C>G (p.Gln593Glu)
 gnomAD v4
19g.12647278G=CA2323498555MAN2B1c.2878C= (p.Gln960=)
c.2875C= (p.Gln959=)
n.3468C=
n.307C=
n.289C=
c.437C=
c.2881C= (p.Gln961=)
c.1777C= (p.Gln593=)
19g.12647278G>TCA404237349MAN2B1c.2878C>A (p.Gln960Lys)
c.2875C>A (p.Gln959Lys)
n.3468C>A
n.307C>A
n.289C>A
c.437C>A
c.2881C>A (p.Gln961Lys)
c.1777C>A (p.Gln593Lys)
 dbSNP
19g.12647279G>ACA9225890MAN2B1c.2877C>T (p.Asn959=)
c.2874C>T (p.Asn958=)
n.3467C>T
n.306C>T
n.288C>T
c.436C>T
c.2880C>T (p.Asn960=)
c.1776C>T (p.Asn592=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.12647279G>CCA404237354MAN2B1c.2877C>G (p.Asn959Lys)
c.2874C>G (p.Asn958Lys)
n.3467C>G
n.306C>G
n.288C>G
c.436C>G
c.2880C>G (p.Asn960Lys)
c.1776C>G (p.Asn592Lys)
19g.12647279G=CA2323498556MAN2B1c.2877C= (p.Asn959=)
c.2874C= (p.Asn958=)
n.3467C=
n.306C=
n.288C=
c.436C=
c.2880C= (p.Asn960=)
c.1776C= (p.Asn592=)
19g.12647279G>TCA404237356MAN2B1c.2877C>A (p.Asn959Lys)
c.2874C>A (p.Asn958Lys)
n.3467C>A
n.306C>A
n.288C>A
c.436C>A
c.2880C>A (p.Asn960Lys)
c.1776C>A (p.Asn592Lys)
19g.12647280T>ACA404237358MAN2B1c.2876A>T (p.Asn959Ile)
c.2873A>T (p.Asn958Ile)
n.3466A>T
n.305A>T
n.287A>T
c.435A>T
c.2879A>T (p.Asn960Ile)
c.1775A>T (p.Asn592Ile)
19g.12647280T>CCA404237360MAN2B1c.2876A>G (p.Asn959Ser)
c.2873A>G (p.Asn958Ser)
n.3466A>G
n.305A>G
n.287A>G
c.435A>G
c.2879A>G (p.Asn960Ser)
c.1775A>G (p.Asn592Ser)
 dbSNP gnomAD v3 gnomAD v4
19g.12647280T>GCA404237362MAN2B1c.2876A>C (p.Asn959Thr)
c.2873A>C (p.Asn958Thr)
n.3466A>C
n.305A>C
n.287A>C
c.435A>C
c.2879A>C (p.Asn960Thr)
c.1775A>C (p.Asn592Thr)
19g.12647280T=CA2323498557MAN2B1c.2876A= (p.Asn959=)
c.2873A= (p.Asn958=)
n.3466A=
n.305A=
n.287A=
c.435A=
c.2879A= (p.Asn960=)
c.1775A= (p.Asn592=)
19g.12647281T>ACA404237365MAN2B1c.2875A>T (p.Asn959Tyr)
c.2872A>T (p.Asn958Tyr)
n.3465A>T
n.304A>T
n.286A>T
c.434A>T
c.2878A>T (p.Asn960Tyr)
c.1774A>T (p.Asn592Tyr)
19g.12647281T>CCA404237366MAN2B1c.2875A>G (p.Asn959Asp)
c.2872A>G (p.Asn958Asp)
n.3465A>G
n.304A>G
n.286A>G
c.434A>G
c.2878A>G (p.Asn960Asp)
c.1774A>G (p.Asn592Asp)
19g.12647281T>GCA404237367MAN2B1c.2875A>C (p.Asn959His)
c.2872A>C (p.Asn958His)
n.3465A>C
n.304A>C
n.286A>C
c.434A>C
c.2878A>C (p.Asn960His)
c.1774A>C (p.Asn592His)
19g.12647282G>ACA505770583MAN2B1c.2874C>T (p.Ala958=)
c.2871C>T (p.Ala957=)
n.3464C>T
n.303C>T
n.285C>T
c.433C>T
c.2877C>T (p.Ala959=)
c.1773C>T (p.Ala591=)
19g.12647282G>CCA505770584MAN2B1c.2874C>G (p.Ala958=)
c.2871C>G (p.Ala957=)
n.3464C>G
n.303C>G
n.285C>G
c.433C>G
c.2877C>G (p.Ala959=)
c.1773C>G (p.Ala591=)
19g.12647282G>TCA505770585MAN2B1c.2874C>A (p.Ala958=)
c.2871C>A (p.Ala957=)
n.3464C>A
n.303C>A
n.285C>A
c.433C>A
c.2877C>A (p.Ala959=)
c.1773C>A (p.Ala591=)
19g.12647283G>ACA404237370MAN2B1c.2873C>T (p.Ala958Val)
c.2870C>T (p.Ala957Val)
n.3463C>T
n.302C>T
n.284C>T
c.432C>T
c.2876C>T (p.Ala959Val)
c.1772C>T (p.Ala591Val)
 gnomAD v4
19g.12647283G>CCA404237371MAN2B1c.2873C>G (p.Ala958Gly)
c.2870C>G (p.Ala957Gly)
n.3463C>G
n.302C>G
n.284C>G
c.432C>G
c.2876C>G (p.Ala959Gly)
c.1772C>G (p.Ala591Gly)
 dbSNP gnomAD v3 gnomAD v4
19g.12647283G=CA2323498558MAN2B1c.2873C= (p.Ala958=)
c.2870C= (p.Ala957=)
n.3463C=
n.302C=
n.284C=
c.432C=
c.2876C= (p.Ala959=)
c.1772C= (p.Ala591=)
19g.12647283G>TCA404237372MAN2B1c.2873C>A (p.Ala958Asp)
c.2870C>A (p.Ala957Asp)
n.3463C>A
n.302C>A
n.284C>A
c.432C>A
c.2876C>A (p.Ala959Asp)
c.1772C>A (p.Ala591Asp)
19g.12647284C>ACA404237376MAN2B1c.2872G>T (p.Ala958Ser)
c.2869G>T (p.Ala957Ser)
n.3462G>T
n.301G>T
n.283G>T
c.431G>T
c.2875G>T (p.Ala959Ser)
c.1771G>T (p.Ala591Ser)
19g.12647284C>GCA404237378MAN2B1c.2872G>C (p.Ala958Pro)
c.2869G>C (p.Ala957Pro)
n.3462G>C
n.301G>C
n.283G>C
c.431G>C
c.2875G>C (p.Ala959Pro)
c.1771G>C (p.Ala591Pro)
19g.12647284C>TCA404237374MAN2B1c.2872G>A (p.Ala958Thr)
c.2869G>A (p.Ala957Thr)
n.3462G>A
n.301G>A
n.283G>A
c.431G>A
c.2875G>A (p.Ala959Thr)
c.1771G>A (p.Ala591Thr)
19g.12647284_12647377dupCA920061303MAN2B1c.2821-42_2872dup
c.2818-42_2869dup
n.3411-42_3462dup
n.208_301dup
n.232-42_283dup
c.380-42_431dup
c.2824-42_2875dup
c.1720-42_1771dup
 dbSNP gnomAD v4
19g.12647285C>ACA505770588MAN2B1c.2871G>T (p.Val957=)
c.2868G>T (p.Val956=)
n.3461G>T
n.300G>T
n.282G>T
c.430G>T
c.2874G>T (p.Val958=)
c.1770G>T (p.Val590=)
19g.12647285C>GCA505770589MAN2B1c.2871G>C (p.Val957=)
c.2868G>C (p.Val956=)
n.3461G>C
n.300G>C
n.282G>C
c.430G>C
c.2874G>C (p.Val958=)
c.1770G>C (p.Val590=)
19g.12647285C>TCA505770590MAN2B1c.2871G>A (p.Val957=)
c.2868G>A (p.Val956=)
n.3461G>A
n.300G>A
n.282G>A
c.430G>A
c.2874G>A (p.Val958=)
c.1770G>A (p.Val590=)
19g.12647286A=CA2323498559MAN2B1c.2870T= (p.Val957=)
c.2867T= (p.Val956=)
n.3460T=
n.299T=
n.281T=
c.429T=
c.2873T= (p.Val958=)
c.1769T= (p.Val590=)
19g.12647286A>CCA404237379MAN2B1c.2870T>G (p.Val957Gly)
c.2867T>G (p.Val956Gly)
n.3460T>G
n.299T>G
n.281T>G
c.429T>G
c.2873T>G (p.Val958Gly)
c.1769T>G (p.Val590Gly)
19g.12647286A>GCA9225891MAN2B1c.2870T>C (p.Val957Ala)
c.2867T>C (p.Val956Ala)
n.3460T>C
n.299T>C
n.281T>C
c.429T>C
c.2873T>C (p.Val958Ala)
c.1769T>C (p.Val590Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.12647286A>TCA404237382MAN2B1c.2870T>A (p.Val957Glu)
c.2867T>A (p.Val956Glu)
n.3460T>A
n.299T>A
n.281T>A
c.429T>A
c.2873T>A (p.Val958Glu)
c.1769T>A (p.Val590Glu)
19g.12647286_12647287delinsACCA2323498560MAN2B1c.2869_2870delinsGT (p.Val957=)
c.2866_2867delinsGT (p.Val956=)
n.3459_3460delinsGT
n.298_299delinsGT
n.280_281delinsGT
c.428_429delinsGT
c.2872_2873delinsGT (p.Val958=)
c.1768_1769delinsGT (p.Val590=)
19g.12647287C>ACA404237384MAN2B1c.2869G>T (p.Val957Leu)
c.2866G>T (p.Val956Leu)
n.3459G>T
n.298G>T
n.280G>T
c.428G>T
c.2872G>T (p.Val958Leu)
c.1768G>T (p.Val590Leu)
 dbSNP gnomAD v3 gnomAD v4
19g.12647287C=CA2323498561MAN2B1c.2869G= (p.Val957=)
c.2866G= (p.Val956=)
n.3459G=
n.298G=
n.280G=
c.428G=
c.2872G= (p.Val958=)
c.1768G= (p.Val590=)
19g.12647287C>GCA404237386MAN2B1c.2869G>C (p.Val957Leu)
c.2866G>C (p.Val956Leu)
n.3459G>C
n.298G>C
n.280G>C
c.428G>C
c.2872G>C (p.Val958Leu)
c.1768G>C (p.Val590Leu)
19g.12647287C>TCA404237388MAN2B1c.2869G>A (p.Val957Met)
c.2866G>A (p.Val956Met)
n.3459G>A
n.298G>A
n.280G>A
c.428G>A
c.2872G>A (p.Val958Met)
c.1768G>A (p.Val590Met)
19g.12647288delCA632119523MAN2B1c.2869del (p.Val957TrpfsTer?)
c.2866del (p.Val956TrpfsTer?)
n.3459del
n.298del
n.280del
c.428del
c.2872del (p.Val958TrpfsTer?)
c.1768del (p.Val590TrpfsTer?)
 dbSNP gnomAD v2 gnomAD v4
19g.12647288C>ACA505770595MAN2B1c.2868G>T (p.Leu956=)
c.2865G>T (p.Leu955=)
n.3458G>T
n.297G>T
n.279G>T
c.427G>T
c.2871G>T (p.Leu957=)
c.1767G>T (p.Leu589=)
19g.12647288C=CA2323498562MAN2B1c.2868G= (p.Leu956=)
c.2865G= (p.Leu955=)
n.3458G=
n.297G=
n.279G=
c.427G=
c.2871G= (p.Leu957=)
c.1767G= (p.Leu589=)
19g.12647288C>GCA505770596MAN2B1c.2868G>C (p.Leu956=)
c.2865G>C (p.Leu955=)
n.3458G>C
n.297G>C
n.279G>C
c.427G>C
c.2871G>C (p.Leu957=)
c.1767G>C (p.Leu589=)
 dbSNP gnomAD v2 gnomAD v4
19g.12647288C>TCA505770597MAN2B1c.2868G>A (p.Leu956=)
c.2865G>A (p.Leu955=)
n.3458G>A
n.297G>A
n.279G>A
c.427G>A
c.2871G>A (p.Leu957=)
c.1767G>A (p.Leu589=)
 gnomAD v4
19g.12647289A=CA2323498563MAN2B1c.2867T= (p.Leu956=)
c.2864T= (p.Leu955=)
n.3457T=
n.296T=
n.278T=
c.426T=
c.2870T= (p.Leu957=)
c.1766T= (p.Leu589=)
19g.12647289A>CCA350887MAN2B1c.2867T>G (p.Leu956Arg)
c.2864T>G (p.Leu955Arg)
n.3457T>G
n.296T>G
n.278T>G
c.426T>G
c.2870T>G (p.Leu957Arg)
c.1766T>G (p.Leu589Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.12647289A>GCA404237393MAN2B1c.2867T>C (p.Leu956Pro)
c.2864T>C (p.Leu955Pro)
n.3457T>C
n.296T>C
n.278T>C
c.426T>C
c.2870T>C (p.Leu957Pro)
c.1766T>C (p.Leu589Pro)
 gnomAD v4
19g.12647289A>TCA404237391MAN2B1c.2867T>A (p.Leu956Gln)
c.2864T>A (p.Leu955Gln)
n.3457T>A
n.296T>A
n.278T>A
c.426T>A
c.2870T>A (p.Leu957Gln)
c.1766T>A (p.Leu589Gln)
19g.12647290G>ACA505770603MAN2B1c.2866C>T (p.Leu956=)
c.2863C>T (p.Leu955=)
n.3456C>T
n.295C>T
n.277C>T
c.425C>T
c.2869C>T (p.Leu957=)
c.1765C>T (p.Leu589=)
19g.12647290G>CCA404237394MAN2B1c.2866C>G (p.Leu956Val)
c.2863C>G (p.Leu955Val)
n.3456C>G
n.295C>G
n.277C>G
c.425C>G
c.2869C>G (p.Leu957Val)
c.1765C>G (p.Leu589Val)
19g.12647290G>TCA404237396MAN2B1c.2866C>A (p.Leu956Met)
c.2863C>A (p.Leu955Met)
n.3456C>A
n.295C>A
n.277C>A
c.425C>A
c.2869C>A (p.Leu957Met)
c.1765C>A (p.Leu589Met)
19g.12647291C>ACA505770604MAN2B1c.2865G>T (p.Thr955=)
c.2862G>T (p.Thr954=)
n.3455G>T
n.294G>T
n.276G>T
c.424G>T
c.2868G>T (p.Thr956=)
c.1764G>T (p.Thr588=)
19g.12647291C=CA2323498564MAN2B1c.2865G= (p.Thr955=)
c.2862G= (p.Thr954=)
n.3455G=
n.294G=
n.276G=
c.424G=
c.2868G= (p.Thr956=)
c.1764G= (p.Thr588=)
19g.12647291C>GCA221085MAN2B1c.2865G>C (p.Thr955=)
c.2862G>C (p.Thr954=)
n.3455G>C
n.294G>C
n.276G>C
c.424G>C
c.2868G>C (p.Thr956=)
c.1764G>C (p.Thr588=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12647291C>TCA9225892MAN2B1c.2865G>A (p.Thr955=)
c.2862G>A (p.Thr954=)
n.3455G>A
n.294G>A
n.276G>A
c.424G>A
c.2868G>A (p.Thr956=)
c.1764G>A (p.Thr588=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12647292G>ACA9225893MAN2B1c.2864C>T (p.Thr955Met)
c.2861C>T (p.Thr954Met)
n.3454C>T
n.293C>T
n.275C>T
c.423C>T
c.2867C>T (p.Thr956Met)
c.1763C>T (p.Thr588Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.12647292G>CCA404237403MAN2B1c.2864C>G (p.Thr955Arg)
c.2861C>G (p.Thr954Arg)
n.3454C>G
n.293C>G
n.275C>G
c.423C>G
c.2867C>G (p.Thr956Arg)
c.1763C>G (p.Thr588Arg)
19g.12647292G=CA2323498565MAN2B1c.2864C= (p.Thr955=)
c.2861C= (p.Thr954=)
n.3454C=
n.293C=
n.275C=
c.423C=
c.2867C= (p.Thr956=)
c.1763C= (p.Thr588=)
19g.12647292G>TCA404237401MAN2B1c.2864C>A (p.Thr955Lys)
c.2861C>A (p.Thr954Lys)
n.3454C>A
n.293C>A
n.275C>A
c.423C>A
c.2867C>A (p.Thr956Lys)
c.1763C>A (p.Thr588Lys)
19g.12647293T>ACA404237406MAN2B1c.2863A>T (p.Thr955Ser)
c.2860A>T (p.Thr954Ser)
n.3453A>T
n.292A>T
n.274A>T
c.422A>T
c.2866A>T (p.Thr956Ser)
c.1762A>T (p.Thr588Ser)
19g.12647293T>CCA404237409MAN2B1c.2863A>G (p.Thr955Ala)
c.2860A>G (p.Thr954Ala)
n.3453A>G
n.292A>G
n.274A>G
c.422A>G
c.2866A>G (p.Thr956Ala)
c.1762A>G (p.Thr588Ala)
 gnomAD v4
19g.12647293T>GCA404237408MAN2B1c.2863A>C (p.Thr955Pro)
c.2860A>C (p.Thr954Pro)
n.3453A>C
n.292A>C
n.274A>C
c.422A>C
c.2866A>C (p.Thr956Pro)
c.1762A>C (p.Thr588Pro)
19g.12647294G>ACA505770610MAN2B1c.2862C>T (p.Thr954=)
c.2859C>T (p.Thr953=)
n.3452C>T
n.291C>T
n.273C>T
c.421C>T
c.2865C>T (p.Thr955=)
c.1761C>T (p.Thr587=)
 ClinVar dbSNP
19g.12647294G>CCA505770611MAN2B1c.2862C>G (p.Thr954=)
c.2859C>G (p.Thr953=)
n.3452C>G
n.291C>G
n.273C>G
c.421C>G
c.2865C>G (p.Thr955=)
c.1761C>G (p.Thr587=)
 ClinVar
19g.12647294G>TCA505770612MAN2B1c.2862C>A (p.Thr954=)
c.2859C>A (p.Thr953=)
n.3452C>A
n.291C>A
n.273C>A
c.421C>A
c.2865C>A (p.Thr955=)
c.1761C>A (p.Thr587=)
19g.12647295G>ACA404237412MAN2B1c.2861C>T (p.Thr954Ile)
c.2858C>T (p.Thr953Ile)
n.3451C>T
n.290C>T
n.272C>T
c.420C>T
c.2864C>T (p.Thr955Ile)
c.1760C>T (p.Thr587Ile)
 gnomAD v4
19g.12647295G>CCA404237415MAN2B1c.2861C>G (p.Thr954Ser)
c.2858C>G (p.Thr953Ser)
n.3451C>G
n.290C>G
n.272C>G
c.420C>G
c.2864C>G (p.Thr955Ser)
c.1760C>G (p.Thr587Ser)
19g.12647295G>TCA404237414MAN2B1c.2861C>A (p.Thr954Asn)
c.2858C>A (p.Thr953Asn)
n.3451C>A
n.290C>A
n.272C>A
c.420C>A
c.2864C>A (p.Thr955Asn)
c.1760C>A (p.Thr587Asn)
19g.12647296T>ACA404237417MAN2B1c.2860A>T (p.Thr954Ser)
c.2857A>T (p.Thr953Ser)
n.3450A>T
n.289A>T
n.271A>T
c.419A>T
c.2863A>T (p.Thr955Ser)
c.1759A>T (p.Thr587Ser)
19g.12647296T>CCA404237419MAN2B1c.2860A>G (p.Thr954Ala)
c.2857A>G (p.Thr953Ala)
n.3450A>G
n.289A>G
n.271A>G
c.419A>G
c.2863A>G (p.Thr955Ala)
c.1759A>G (p.Thr587Ala)
19g.12647296T>GCA404237421MAN2B1c.2860A>C (p.Thr954Pro)
c.2857A>C (p.Thr953Pro)
n.3450A>C
n.289A>C
n.271A>C
c.419A>C
c.2863A>C (p.Thr955Pro)
c.1759A>C (p.Thr587Pro)
19g.12647297C>ACA404237423MAN2B1c.2859G>T (p.Glu953Asp)
c.2856G>T (p.Glu952Asp)
n.3449G>T
n.288G>T
n.270G>T
c.418G>T
c.2862G>T (p.Glu954Asp)
c.1758G>T (p.Glu586Asp)
 dbSNP gnomAD v2 gnomAD v4
19g.12647297C=CA2323498566MAN2B1c.2859G= (p.Glu953=)
c.2856G= (p.Glu952=)
n.3449G=
n.288G=
n.270G=
c.418G=
c.2862G= (p.Glu954=)
c.1758G= (p.Glu586=)
19g.12647297C>GCA404237425MAN2B1c.2859G>C (p.Glu953Asp)
c.2856G>C (p.Glu952Asp)
n.3449G>C
n.288G>C
n.270G>C
c.418G>C
c.2862G>C (p.Glu954Asp)
c.1758G>C (p.Glu586Asp)
19g.12647297C>TCA505770615MAN2B1c.2859G>A (p.Glu953=)
c.2856G>A (p.Glu952=)
n.3449G>A
n.288G>A
n.270G>A
c.418G>A
c.2862G>A (p.Glu954=)
c.1758G>A (p.Glu586=)
19g.12647298T>ACA404237426MAN2B1c.2858A>T (p.Glu953Val)
c.2855A>T (p.Glu952Val)
n.3448A>T
n.287A>T
n.269A>T
c.417A>T
c.2861A>T (p.Glu954Val)
c.1757A>T (p.Glu586Val)
19g.12647298T>CCA404237428MAN2B1c.2858A>G (p.Glu953Gly)
c.2855A>G (p.Glu952Gly)
n.3448A>G
n.287A>G
n.269A>G
c.417A>G
c.2861A>G (p.Glu954Gly)
c.1757A>G (p.Glu586Gly)
19g.12647298T>GCA404237430MAN2B1c.2858A>C (p.Glu953Ala)
c.2855A>C (p.Glu952Ala)
n.3448A>C
n.287A>C
n.269A>C
c.417A>C
c.2861A>C (p.Glu954Ala)
c.1757A>C (p.Glu586Ala)
19g.12647299C>ACA404237432MAN2B1c.2857G>T (p.Glu953Ter)
c.2854G>T (p.Glu952Ter)
n.3447G>T
n.286G>T
n.268G>T
c.416G>T
c.2860G>T (p.Glu954Ter)
c.1756G>T (p.Glu586Ter)
19g.12647299C>GCA404237433MAN2B1c.2857G>C (p.Glu953Gln)
c.2854G>C (p.Glu952Gln)
n.3447G>C
n.286G>C
n.268G>C
c.416G>C
c.2860G>C (p.Glu954Gln)
c.1756G>C (p.Glu586Gln)
19g.12647299C>TCA404237435MAN2B1c.2857G>A (p.Glu953Lys)
c.2854G>A (p.Glu952Lys)
n.3447G>A
n.286G>A
n.268G>A
c.416G>A
c.2860G>A (p.Glu954Lys)
c.1756G>A (p.Glu586Lys)
 gnomAD v4
19g.12647300C>ACA404237439MAN2B1c.2856G>T (p.Gln952His)
c.2853G>T (p.Gln951His)
n.3446G>T
n.285G>T
n.267G>T
c.415G>T
c.2859G>T (p.Gln953His)
c.1755G>T (p.Gln585His)
19g.12647300C=CA2323498567MAN2B1c.2856G= (p.Gln952=)
c.2853G= (p.Gln951=)
n.3446G=
n.285G=
n.267G=
c.415G=
c.2859G= (p.Gln953=)
c.1755G= (p.Gln585=)
19g.12647300C>GCA404237438MAN2B1c.2856G>C (p.Gln952His)
c.2853G>C (p.Gln951His)
n.3446G>C
n.285G>C
n.267G>C
c.415G>C
c.2859G>C (p.Gln953His)
c.1755G>C (p.Gln585His)
19g.12647300C>TCA505770621MAN2B1c.2856G>A (p.Gln952=)
c.2853G>A (p.Gln951=)
n.3446G>A
n.285G>A
n.267G>A
c.415G>A
c.2859G>A (p.Gln953=)
c.1755G>A (p.Gln585=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.12647301T>ACA404237442MAN2B1c.2855A>T (p.Gln952Leu)
c.2852A>T (p.Gln951Leu)
n.3445A>T
n.284A>T
n.266A>T
c.414A>T
c.2858A>T (p.Gln953Leu)
c.1754A>T (p.Gln585Leu)
19g.12647301T>CCA404237443MAN2B1c.2855A>G (p.Gln952Arg)
c.2852A>G (p.Gln951Arg)
n.3445A>G
n.284A>G
n.266A>G
c.414A>G
c.2858A>G (p.Gln953Arg)
c.1754A>G (p.Gln585Arg)
19g.12647301T>GCA404237445MAN2B1c.2855A>C (p.Gln952Pro)
c.2852A>C (p.Gln951Pro)
n.3445A>C
n.284A>C
n.266A>C
c.414A>C
c.2858A>C (p.Gln953Pro)
c.1754A>C (p.Gln585Pro)
19g.12647302G>ACA404237448MAN2B1c.2854C>T (p.Gln952Ter)
c.2851C>T (p.Gln951Ter)
n.3444C>T
n.283C>T
n.265C>T
c.413C>T
c.2857C>T (p.Gln953Ter)
c.1753C>T (p.Gln585Ter)
19g.12647302G>CCA404237449MAN2B1c.2854C>G (p.Gln952Glu)
c.2851C>G (p.Gln951Glu)
n.3444C>G
n.283C>G
n.265C>G
c.413C>G
c.2857C>G (p.Gln953Glu)
c.1753C>G (p.Gln585Glu)
19g.12647302G>TCA404237451MAN2B1c.2854C>A (p.Gln952Lys)
c.2851C>A (p.Gln951Lys)
n.3444C>A
n.283C>A
n.265C>A
c.413C>A
c.2857C>A (p.Gln953Lys)
c.1753C>A (p.Gln585Lys)
19g.12647303C>ACA505770625MAN2B1c.2853G>T (p.Leu951=)
c.2850G>T (p.Leu950=)
n.3443G>T
n.282G>T
n.264G>T
c.412G>T
c.2856G>T (p.Leu952=)
c.1752G>T (p.Leu584=)
19g.12647303C>GCA505770626MAN2B1c.2853G>C (p.Leu951=)
c.2850G>C (p.Leu950=)
n.3443G>C
n.282G>C
n.264G>C
c.412G>C
c.2856G>C (p.Leu952=)
c.1752G>C (p.Leu584=)
19g.12647303C>TCA505770627MAN2B1c.2853G>A (p.Leu951=)
c.2850G>A (p.Leu950=)
n.3443G>A
n.282G>A
n.264G>A
c.412G>A
c.2856G>A (p.Leu952=)
c.1752G>A (p.Leu584=)
 ClinVar dbSNP
19g.12647304A>CCA404237453MAN2B1c.2852T>G (p.Leu951Arg)
c.2849T>G (p.Leu950Arg)
n.3442T>G
n.281T>G
n.263T>G
c.411T>G
c.2855T>G (p.Leu952Arg)
c.1751T>G (p.Leu584Arg)
19g.12647304A>GCA404237455MAN2B1c.2852T>C (p.Leu951Pro)
c.2849T>C (p.Leu950Pro)
n.3442T>C
n.281T>C
n.263T>C
c.411T>C
c.2855T>C (p.Leu952Pro)
c.1751T>C (p.Leu584Pro)
19g.12647304A>TCA404237457MAN2B1c.2852T>A (p.Leu951Gln)
c.2849T>A (p.Leu950Gln)
n.3442T>A
n.281T>A
n.263T>A
c.411T>A
c.2855T>A (p.Leu952Gln)
c.1751T>A (p.Leu584Gln)
19g.12647305G>ACA505770631MAN2B1c.2851C>T (p.Leu951=)
c.2848C>T (p.Leu950=)
n.3441C>T
n.280C>T
n.262C>T
c.410C>T
c.2854C>T (p.Leu952=)
c.1750C>T (p.Leu584=)
19g.12647305G>CCA404237462MAN2B1c.2851C>G (p.Leu951Val)
c.2848C>G (p.Leu950Val)
n.3441C>G
n.280C>G
n.262C>G
c.410C>G
c.2854C>G (p.Leu952Val)
c.1750C>G (p.Leu584Val)
19g.12647305G>TCA404237463MAN2B1c.2851C>A (p.Leu951Met)
c.2848C>A (p.Leu950Met)
n.3441C>A
n.280C>A
n.262C>A
c.410C>A
c.2854C>A (p.Leu952Met)
c.1750C>A (p.Leu584Met)
19g.12647306delCA2695228379MAN2B1c.2851del (p.Leu951CysfsTer?)
c.2848del (p.Leu950CysfsTer?)
n.3441del
n.280del
n.262del
c.410del
c.2854del (p.Leu952CysfsTer?)
c.1750del (p.Leu584CysfsTer?)
19g.12647306G>ACA505770633MAN2B1c.2850C>T (p.Arg950=)
c.2847C>T (p.Arg949=)
n.3440C>T
n.279C>T
n.261C>T
c.409C>T
c.2853C>T (p.Arg951=)
c.1749C>T (p.Arg583=)
 ClinVar dbSNP
19g.12647306G>CCA505770634MAN2B1c.2850C>G (p.Arg950=)
c.2847C>G (p.Arg949=)
n.3440C>G
n.279C>G
n.261C>G
c.409C>G
c.2853C>G (p.Arg951=)
c.1749C>G (p.Arg583=)
19g.12647306G>TCA505770636MAN2B1c.2850C>A (p.Arg950=)
c.2847C>A (p.Arg949=)
n.3440C>A
n.279C>A
n.261C>A
c.409C>A
c.2853C>A (p.Arg951=)
c.1749C>A (p.Arg583=)
 ClinVar dbSNP
19g.12647307C>ACA404237468MAN2B1c.2849G>T (p.Arg950Leu)
c.2846G>T (p.Arg949Leu)
n.3439G>T
n.278G>T
n.260G>T
c.408G>T
c.2852G>T (p.Arg951Leu)
c.1748G>T (p.Arg583Leu)
 dbSNP gnomAD v3 gnomAD v4
19g.12647307C=CA2323498568MAN2B1c.2849G= (p.Arg950=)
c.2846G= (p.Arg949=)
n.3439G=
n.278G=
n.260G=
c.408G=
c.2852G= (p.Arg951=)
c.1748G= (p.Arg583=)
19g.12647307C>GCA350975MAN2B1c.2849G>C (p.Arg950Pro)
c.2846G>C (p.Arg949Pro)
n.3439G>C
n.278G>C
n.260G>C
c.408G>C
c.2852G>C (p.Arg951Pro)
c.1748G>C (p.Arg583Pro)
 ClinVar dbSNP gnomAD v4
19g.12647307C>TCA9225894MAN2B1c.2849G>A (p.Arg950His)
c.2846G>A (p.Arg949His)
n.3439G>A
n.278G>A
n.260G>A
c.408G>A
c.2852G>A (p.Arg951His)
c.1748G>A (p.Arg583His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.12647308G>ACA9225895MAN2B1c.2848C>T (p.Arg950Cys)
c.2845C>T (p.Arg949Cys)
n.3438C>T
n.277C>T
n.259C>T
c.407C>T
c.2851C>T (p.Arg951Cys)
c.1747C>T (p.Arg583Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12647308G>CCA404237470MAN2B1c.2848C>G (p.Arg950Gly)
c.2845C>G (p.Arg949Gly)
n.3438C>G
n.277C>G
n.259C>G
c.407C>G
c.2851C>G (p.Arg951Gly)
c.1747C>G (p.Arg583Gly)
19g.12647308G=CA2323498570MAN2B1c.2848C= (p.Arg950=)
c.2845C= (p.Arg949=)
n.3438C=
n.277C=
n.259C=
c.407C=
c.2851C= (p.Arg951=)
c.1747C= (p.Arg583=)
19g.12647308G>TCA404237472MAN2B1c.2848C>A (p.Arg950Ser)
c.2845C>A (p.Arg949Ser)
n.3438C>A
n.277C>A
n.259C>A
c.407C>A
c.2851C>A (p.Arg951Ser)
c.1747C>A (p.Arg583Ser)
 gnomAD v4
19g.12647309_12647310dupCA2323498569MAN2B1c.2847_2848dup (p.Arg950ProfsTer?)
c.2844_2845dup (p.Arg949ProfsTer?)
n.3437_3438dup
n.276_277dup
n.258_259dup
c.406_407dup
c.2850_2851dup (p.Arg951ProfsTer?)
c.1746_1747dup (p.Arg583ProfsTer?)
 dbSNP

Number of alleles fetched