Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.12647219G>T | CA2576634689 | MAN2B1 | c.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 |
19 | g.12647219dup | CA2840346913 | MAN2B1 | c.2923+14dup (n.2923+14dup) c.2920+14dup (n.2920+14dup) n.3513+14dup n.352+14dup n.334+14dup c.482+14dup c.2926+14dup (n.2926+14dup) c.1822+14dup (n.1822+14dup) | |
19 | g.12647221C= | CA2323498523 | MAN2B1 | c.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=) | |
19 | g.12647221C>T | CA2323498524 | MAN2B1 | c.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 |
19 | g.12647222C= | CA2323498525 | MAN2B1 | c.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=) | |
19 | g.12647222C>T | CA305459817 | MAN2B1 | c.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 |
19 | g.12647223A>C | CA2697556343 | MAN2B1 | c.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 |
19 | g.12647224G>A | CA9225877 | MAN2B1 | c.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 |
19 | g.12647224G= | CA2323498526 | MAN2B1 | c.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=) | |
19 | g.12647225G>T | CA2576634690 | MAN2B1 | c.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 |
19 | g.12647226G>A | CA9225878 | MAN2B1 | c.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 |
19 | g.12647226G= | CA2323498527 | MAN2B1 | c.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=) | |
19 | g.12647226G>T | CA2582717339 | MAN2B1 | c.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 |
19 | g.12647229C>A | CA2582717340 | MAN2B1 | c.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 |
19 | g.12647229C>T | CA2576634691 | MAN2B1 | c.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) | |
19 | g.12647231A>C | CA404237161 | MAN2B1 | c.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 |
19 | g.12647231A>G | CA404237163 | MAN2B1 | c.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) | |
19 | g.12647231A>T | CA404237165 | MAN2B1 | c.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) | |
19 | g.12647232C>A | CA404237168 | MAN2B1 | c.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) | |
19 | g.12647232C= | CA2323498528 | MAN2B1 | c.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=) | |
19 | g.12647232C>G | CA404237169 | MAN2B1 | c.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) | |
19 | g.12647232C>T | CA404237171 | MAN2B1 | c.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 |
19 | g.12647232_12647239dup | CA2695198130 | MAN2B1 | c.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 |
19 | g.12647233C>A | CA404237173 | MAN2B1 | c.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) | |
19 | g.12647233C>G | CA404237174 | MAN2B1 | c.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) | |
19 | g.12647233C>T | CA404237176 | MAN2B1 | c.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) | |
19 | g.12647233_12647234delinsCT | CA2323498529 | MAN2B1 | c.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=) | |
19 | g.12647233_12647235del | CA913015541 | MAN2B1 | c.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) | |
19 | g.12647233_12647235delinsCTG | CA2323498530 | MAN2B1 | c.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=) | |
19 | g.12647233_12647234insA | CA2582717341 | MAN2B1 | c.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 |
19 | g.12647234del | CA16041944 | MAN2B1 | c.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 |
19 | g.12647234T>A | CA505770527 | MAN2B1 | c.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=) | |
19 | g.12647234T>C | CA505770529 | MAN2B1 | c.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=) | |
19 | g.12647234T>G | CA505770530 | MAN2B1 | c.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=) | |
19 | g.12647237_12647238del | CA658824628 | MAN2B1 | c.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 |
19 | g.12647235G>A | CA404237182 | MAN2B1 | c.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 |
19 | g.12647235G>C | CA404237179 | MAN2B1 | c.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) | |
19 | g.12647235G= | CA2323498531 | MAN2B1 | c.2921C= (p.Thr974=) c.2918C= (p.Thr973=) n.3511C= n.350C= n.332C= c.480C= c.2924C= (p.Thr975=) c.1820C= (p.Thr607=) | |
19 | g.12647235G>T | CA404237184 | MAN2B1 | c.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 |
19 | g.12647236T>A | CA404237189 | MAN2B1 | c.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) | |
19 | g.12647236T>C | CA404237191 | MAN2B1 | c.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 |
19 | g.12647236T>G | CA404237187 | MAN2B1 | c.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 |
19 | g.12647236T= | CA2323498532 | MAN2B1 | c.2920A= (p.Thr974=) c.2917A= (p.Thr973=) n.3510A= n.349A= n.331A= c.479A= c.2923A= (p.Thr975=) c.1819A= (p.Thr607=) | |
19 | g.12647236dup | CA9225879 | MAN2B1 | c.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 |
19 | g.12647237G>A | CA505770533 | MAN2B1 | c.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 |
19 | g.12647237G>C | CA404237193 | MAN2B1 | c.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) | |
19 | g.12647237G>T | CA404237195 | MAN2B1 | c.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 |
19 | g.12647238T>A | CA404237197 | MAN2B1 | c.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) | |
19 | g.12647238T>C | CA9225880 | MAN2B1 | c.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 |
19 | g.12647238T>G | CA404237199 | MAN2B1 | c.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) | |
19 | g.12647238T= | CA2323498533 | MAN2B1 | c.2918A= (p.Asn973=) c.2915A= (p.Asn972=) n.3508A= n.347A= n.329A= c.477A= c.2921A= (p.Asn974=) c.1817A= (p.Asn606=) | |
19 | g.12647239T>A | CA404237204 | MAN2B1 | c.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) | |
19 | g.12647239T>C | CA9225881 | MAN2B1 | c.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 |
19 | g.12647239T>G | CA404237201 | MAN2B1 | c.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 |
19 | g.12647239T= | CA2323498534 | MAN2B1 | c.2917A= (p.Asn973=) c.2914A= (p.Asn972=) n.3507A= n.346A= n.328A= c.476A= c.2920A= (p.Asn974=) c.1816A= (p.Asn606=) | |
19 | g.12647240T>A | CA505770535 | MAN2B1 | c.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=) | |
19 | g.12647240T>C | CA505770536 | MAN2B1 | c.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=) | |
19 | g.12647240T>G | CA505770537 | MAN2B1 | c.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=) | |
19 | g.12647241del | CA2582717342 | MAN2B1 | c.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 |
19 | g.12647241G>A | CA404237206 | MAN2B1 | c.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) | |
19 | g.12647241G>C | CA404237208 | MAN2B1 | c.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) | |
19 | g.12647241G>T | CA404237210 | MAN2B1 | c.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) | |
19 | g.12647242T>A | CA404237211 | MAN2B1 | c.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) | |
19 | g.12647242T>C | CA404237213 | MAN2B1 | c.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) | |
19 | g.12647242T>G | CA404237215 | MAN2B1 | c.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) | |
19 | g.12647243T>A | CA505770541 | MAN2B1 | c.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=) | |
19 | g.12647243T>C | CA505770544 | MAN2B1 | c.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 |
19 | g.12647243T>G | CA505770542 | MAN2B1 | c.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=) | |
19 | g.12647244G>A | CA404237219 | MAN2B1 | c.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 |
19 | g.12647244G>C | CA404237216 | MAN2B1 | c.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) | |
19 | g.12647244G= | CA2323498535 | MAN2B1 | c.2912C= (p.Thr971=) c.2909C= (p.Thr970=) n.3502C= n.341C= n.323C= c.471C= c.2915C= (p.Thr972=) c.1811C= (p.Thr604=) | |
19 | g.12647244G>T | CA404237217 | MAN2B1 | c.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) | |
19 | g.12647245T>A | CA404237221 | MAN2B1 | c.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) | |
19 | g.12647245T>C | CA9225882 | MAN2B1 | c.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 |
19 | g.12647245T>G | CA404237223 | MAN2B1 | c.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) | |
19 | g.12647245T= | CA2323498536 | MAN2B1 | c.2911A= (p.Thr971=) c.2908A= (p.Thr970=) n.3501A= n.340A= n.322A= c.470A= c.2914A= (p.Thr972=) c.1810A= (p.Thr604=) | |
19 | g.12647246C>A | CA404237225 | MAN2B1 | c.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) | |
19 | g.12647246C>G | CA404237227 | MAN2B1 | c.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) | |
19 | g.12647246C>T | CA404237229 | MAN2B1 | c.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) | |
19 | g.12647247C>A | CA404237235 | MAN2B1 | c.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 |
19 | g.12647247C>G | CA404237231 | MAN2B1 | c.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) | |
19 | g.12647247C>T | CA404237233 | MAN2B1 | c.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) | |
19 | g.12647248A>C | CA404237237 | MAN2B1 | c.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) | |
19 | g.12647248A>G | CA404237239 | MAN2B1 | c.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) | |
19 | g.12647248A>T | CA404237241 | MAN2B1 | c.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) | |
19 | g.12647249C>A | CA404237243 | MAN2B1 | c.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) | |
19 | g.12647249C>G | CA404237245 | MAN2B1 | c.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) | |
19 | g.12647249C>T | CA505770548 | MAN2B1 | c.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=) | |
19 | g.12647249dup | CA2839630237 | MAN2B1 | c.2907dup (p.Trp970ValfsTer?) c.2904dup (p.Trp969ValfsTer?) n.3497dup n.336dup n.318dup c.466dup c.2910dup (p.Trp971ValfsTer?) c.1806dup (p.Trp603ValfsTer?) | |
19 | g.12647250T>A | CA404237247 | MAN2B1 | c.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) | |
19 | g.12647250T>C | CA404237251 | MAN2B1 | c.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 |
19 | g.12647250T>G | CA404237249 | MAN2B1 | c.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) | |
19 | g.12647250T= | CA2323498537 | MAN2B1 | c.2906A= (p.Lys969=) c.2903A= (p.Lys968=) n.3496A= n.335A= n.317A= c.465A= c.2909A= (p.Lys970=) c.1805A= (p.Lys602=) | |
19 | g.12647251T>A | CA404237252 | MAN2B1 | c.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) | |
19 | g.12647251T>C | CA305459840 | MAN2B1 | c.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 |
19 | g.12647251T>G | CA404237253 | MAN2B1 | c.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) | |
19 | g.12647251T= | CA2323498538 | MAN2B1 | c.2905A= (p.Lys969=) c.2902A= (p.Lys968=) n.3495A= n.334A= n.316A= c.464A= c.2908A= (p.Lys970=) c.1804A= (p.Lys602=) | |
19 | g.12647252G>A | CA505770550 | MAN2B1 | c.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 |
19 | g.12647252G>C | CA505770551 | MAN2B1 | c.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 |
19 | g.12647252G= | CA2323498539 | MAN2B1 | c.2904C= (p.Leu968=) c.2901C= (p.Leu967=) n.3494C= n.333C= n.315C= c.463C= c.2907C= (p.Leu969=) c.1803C= (p.Leu601=) | |
19 | g.12647252G>T | CA505770552 | MAN2B1 | c.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=) | |
19 | g.12647253A= | CA2323498540 | MAN2B1 | c.2903T= (p.Leu968=) c.2900T= (p.Leu967=) n.3493T= n.332T= n.314T= c.462T= c.2906T= (p.Leu969=) c.1802T= (p.Leu601=) | |
19 | g.12647253A>C | CA404237256 | MAN2B1 | c.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) | |
19 | g.12647253A>G | CA9225883 | MAN2B1 | c.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 |
19 | g.12647253A>T | CA404237259 | MAN2B1 | c.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 |
19 | g.12647253_12647269delinsAGCCTGGAGGCTGCCTC | CA2323498541 | MAN2B1 | c.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=) | |
19 | g.12647254G>A | CA404237261 | MAN2B1 | c.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) | |
19 | g.12647254G>C | CA404237262 | MAN2B1 | c.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) | |
19 | g.12647254G>T | CA404237264 | MAN2B1 | c.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) | |
19 | g.12647256_12647271del | CA1139666292 | MAN2B1 | c.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 |
19 | g.12647255C>A | CA404237266 | MAN2B1 | c.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) | |
19 | g.12647255C>G | CA404237267 | MAN2B1 | c.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) | |
19 | g.12647255C>T | CA505770554 | MAN2B1 | c.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 |
19 | g.12647256C>A | CA404237270 | MAN2B1 | c.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) | |
19 | g.12647256C>G | CA404237271 | MAN2B1 | c.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) | |
19 | g.12647256C>T | CA404237272 | MAN2B1 | c.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 |
19 | g.12647257T>A | CA404237275 | MAN2B1 | c.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 |
19 | g.12647257T>C | CA404237274 | MAN2B1 | c.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 |
19 | g.12647257T>G | CA505770555 | MAN2B1 | c.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=) | |
19 | g.12647257T= | CA2323498542 | MAN2B1 | c.2899A= (p.Arg967=) c.2896A= (p.Arg966=) n.3489A= n.328A= n.310A= c.458A= c.2902A= (p.Arg968=) c.1798A= (p.Arg600=) | |
19 | g.12647258G>A | CA505770557 | MAN2B1 | c.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 |
19 | g.12647258G>C | CA505770558 | MAN2B1 | c.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=) | |
19 | g.12647258G>T | CA505770559 | MAN2B1 | c.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=) | |
19 | g.12647262_12647275del | CA2697556344 | MAN2B1 | c.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 |
19 | g.12647259G>A | CA404237278 | MAN2B1 | c.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 |
19 | g.12647259G>C | CA404237279 | MAN2B1 | c.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) | |
19 | g.12647259G>T | CA404237281 | MAN2B1 | c.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 |
19 | g.12647260A= | CA2323498543 | MAN2B1 | c.2896T= (p.Ser966=) c.2893T= (p.Ser965=) n.3486T= n.325T= n.307T= c.455T= c.2899T= (p.Ser967=) c.1795T= (p.Ser599=) | |
19 | g.12647260A>C | CA404237284 | MAN2B1 | c.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 |
19 | g.12647260A>G | CA404237285 | MAN2B1 | c.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) | |
19 | g.12647260A>T | CA404237286 | MAN2B1 | c.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) | |
19 | g.12647261G>A | CA505770563 | MAN2B1 | c.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 |
19 | g.12647261G>C | CA505770562 | MAN2B1 | c.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 |
19 | g.12647261G= | CA2323498544 | MAN2B1 | c.2895C= (p.Ala965=) c.2892C= (p.Ala964=) n.3485C= n.324C= n.306C= c.454C= c.2898C= (p.Ala966=) c.1794C= (p.Ala598=) | |
19 | g.12647261G>T | CA505770561 | MAN2B1 | c.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 |
19 | g.12647262G>A | CA404237287 | MAN2B1 | c.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 |
19 | g.12647262G>C | CA404237288 | MAN2B1 | c.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) | |
19 | g.12647262G>T | CA404237289 | MAN2B1 | c.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) | |
19 | g.12647263C>A | CA404237290 | MAN2B1 | c.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) | |
19 | g.12647263C= | CA2323498545 | MAN2B1 | c.2893G= (p.Ala965=) c.2890G= (p.Ala964=) n.3483G= n.322G= n.304G= c.452G= c.2896G= (p.Ala966=) c.1792G= (p.Ala598=) | |
19 | g.12647263C>G | CA404237291 | MAN2B1 | c.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) | |
19 | g.12647263C>T | CA9225884 | MAN2B1 | c.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 |
19 | g.12647264T>A | CA505770565 | MAN2B1 | c.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=) | |
19 | g.12647264T>C | CA9225885 | MAN2B1 | c.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 |
19 | g.12647264T>G | CA505770566 | MAN2B1 | c.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=) | |
19 | g.12647264T= | CA2323498546 | MAN2B1 | c.2892A= (p.Ala964=) c.2889A= (p.Ala963=) n.3482A= n.321A= n.303A= c.451A= c.2895A= (p.Ala965=) c.1791A= (p.Ala597=) | |
19 | g.12647265G>A | CA404237293 | MAN2B1 | c.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) | |
19 | g.12647265G>C | CA404237296 | MAN2B1 | c.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) | |
19 | g.12647265G>T | CA404237295 | MAN2B1 | c.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) | |
19 | g.12647266C>A | CA404237298 | MAN2B1 | c.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) | |
19 | g.12647266C>G | CA404237302 | MAN2B1 | c.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) | |
19 | g.12647266C>T | CA404237300 | MAN2B1 | c.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) | |
19 | g.12647267C>A | CA404237304 | MAN2B1 | c.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) | |
19 | g.12647267C>G | CA404237306 | MAN2B1 | c.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) | |
19 | g.12647267C>T | CA505770570 | MAN2B1 | c.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 |
19 | g.12647268T>A | CA404237308 | MAN2B1 | c.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) | |
19 | g.12647268T>C | CA404237309 | MAN2B1 | c.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) | |
19 | g.12647268T>G | CA404237312 | MAN2B1 | c.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) | |
19 | g.12647269del | CA2573156055 | MAN2B1 | c.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 |
19 | g.12647269C>A | CA404237314 | MAN2B1 | c.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 |
19 | g.12647269C= | CA2323498547 | MAN2B1 | c.2887G= (p.Glu963=) c.2884G= (p.Glu962=) n.3477G= n.316G= n.298G= c.446G= c.2890G= (p.Glu964=) c.1786G= (p.Glu596=) | |
19 | g.12647269C>G | CA404237316 | MAN2B1 | c.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 |
19 | g.12647269C>T | CA9225886 | MAN2B1 | c.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 |
19 | g.12647270G>A | CA9225887 | MAN2B1 | c.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 |
19 | g.12647270G>C | CA505770574 | MAN2B1 | c.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 |
19 | g.12647270G= | CA2323498548 | MAN2B1 | c.2886C= (p.Arg962=) c.2883C= (p.Arg961=) n.3476C= n.315C= n.297C= c.445C= c.2889C= (p.Arg963=) c.1785C= (p.Arg595=) | |
19 | g.12647270G>T | CA505770575 | MAN2B1 | c.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=) | |
19 | g.12647271C>A | CA404237320 | MAN2B1 | c.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 |
19 | g.12647271C= | CA2323498549 | MAN2B1 | c.2885G= (p.Arg962=) c.2882G= (p.Arg961=) n.3475G= n.314G= n.296G= c.444G= c.2888G= (p.Arg963=) c.1784G= (p.Arg595=) | |
19 | g.12647271C>G | CA404237322 | MAN2B1 | c.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 |
19 | g.12647271C>T | CA9225888 | MAN2B1 | c.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 |
19 | g.12647271dup | CA2838360269 | MAN2B1 | c.2885dup (p.Glu963ArgfsTer?) c.2882dup (p.Glu962ArgfsTer?) n.3475dup n.314dup n.296dup c.444dup c.2888dup (p.Glu964ArgfsTer?) c.1784dup (p.Glu596ArgfsTer?) | |
19 | g.12647272G>A | CA9225889 | MAN2B1 | c.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 |
19 | g.12647272G>C | CA404237325 | MAN2B1 | c.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) | |
19 | g.12647272G= | CA2323498550 | MAN2B1 | c.2884C= (p.Arg962=) c.2881C= (p.Arg961=) n.3474C= n.313C= n.295C= c.443C= c.2887C= (p.Arg963=) c.1783C= (p.Arg595=) | |
19 | g.12647272G>T | CA404237327 | MAN2B1 | c.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) | |
19 | g.12647273G>A | CA505770576 | MAN2B1 | c.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 |
19 | g.12647273G>C | CA505770577 | MAN2B1 | c.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=) | |
19 | g.12647273G= | CA2323498551 | MAN2B1 | c.2883C= (p.Leu961=) c.2880C= (p.Leu960=) n.3473C= n.312C= n.294C= c.442C= c.2886C= (p.Leu962=) c.1782C= (p.Leu594=) | |
19 | g.12647273G>T | CA505770578 | MAN2B1 | c.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 |
19 | g.12647274A= | CA2323498552 | MAN2B1 | c.2882T= (p.Leu961=) c.2879T= (p.Leu960=) n.3472T= n.311T= n.293T= c.441T= c.2885T= (p.Leu962=) c.1781T= (p.Leu594=) | |
19 | g.12647274A>C | CA404237330 | MAN2B1 | c.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) | |
19 | g.12647274A>G | CA404237331 | MAN2B1 | c.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) | |
19 | g.12647274A>T | CA404237332 | MAN2B1 | c.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 |
19 | g.12647275G>A | CA404237334 | MAN2B1 | c.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 |
19 | g.12647275G>C | CA404237335 | MAN2B1 | c.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) | |
19 | g.12647275G>T | CA404237337 | MAN2B1 | c.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) | |
19 | g.12647276C>A | CA404237339 | MAN2B1 | c.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) | |
19 | g.12647276C>G | CA404237341 | MAN2B1 | c.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) | |
19 | g.12647276C>T | CA505770580 | MAN2B1 | c.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=) | |
19 | g.12647276_12647292delinsCTGGTTGGCCACCAGCG | CA2323498553 | MAN2B1 | c.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=) | |
19 | g.12647277T>A | CA404237343 | MAN2B1 | c.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) | |
19 | g.12647277T>C | CA404237344 | MAN2B1 | c.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 |
19 | g.12647277T>G | CA404237347 | MAN2B1 | c.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) | |
19 | g.12647277T= | CA2323498554 | MAN2B1 | c.2879A= (p.Gln960=) c.2876A= (p.Gln959=) n.3469A= n.308A= n.290A= c.438A= c.2882A= (p.Gln961=) c.1778A= (p.Gln593=) | |
19 | g.12647281_12647296del | CA915952880 | MAN2B1 | c.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 |
19 | g.12647278G>A | CA404237351 | MAN2B1 | c.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) | |
19 | g.12647278G>C | CA404237350 | MAN2B1 | c.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 |
19 | g.12647278G= | CA2323498555 | MAN2B1 | c.2878C= (p.Gln960=) c.2875C= (p.Gln959=) n.3468C= n.307C= n.289C= c.437C= c.2881C= (p.Gln961=) c.1777C= (p.Gln593=) | |
19 | g.12647278G>T | CA404237349 | MAN2B1 | c.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 |
19 | g.12647279G>A | CA9225890 | MAN2B1 | c.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 |
19 | g.12647279G>C | CA404237354 | MAN2B1 | c.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) | |
19 | g.12647279G= | CA2323498556 | MAN2B1 | c.2877C= (p.Asn959=) c.2874C= (p.Asn958=) n.3467C= n.306C= n.288C= c.436C= c.2880C= (p.Asn960=) c.1776C= (p.Asn592=) | |
19 | g.12647279G>T | CA404237356 | MAN2B1 | c.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) | |
19 | g.12647280T>A | CA404237358 | MAN2B1 | c.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) | |
19 | g.12647280T>C | CA404237360 | MAN2B1 | c.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 |
19 | g.12647280T>G | CA404237362 | MAN2B1 | c.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) | |
19 | g.12647280T= | CA2323498557 | MAN2B1 | c.2876A= (p.Asn959=) c.2873A= (p.Asn958=) n.3466A= n.305A= n.287A= c.435A= c.2879A= (p.Asn960=) c.1775A= (p.Asn592=) | |
19 | g.12647281T>A | CA404237365 | MAN2B1 | c.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) | |
19 | g.12647281T>C | CA404237366 | MAN2B1 | c.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) | |
19 | g.12647281T>G | CA404237367 | MAN2B1 | c.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) | |
19 | g.12647282G>A | CA505770583 | MAN2B1 | c.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=) | |
19 | g.12647282G>C | CA505770584 | MAN2B1 | c.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=) | |
19 | g.12647282G>T | CA505770585 | MAN2B1 | c.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=) | |
19 | g.12647283G>A | CA404237370 | MAN2B1 | c.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 |
19 | g.12647283G>C | CA404237371 | MAN2B1 | c.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 |
19 | g.12647283G= | CA2323498558 | MAN2B1 | c.2873C= (p.Ala958=) c.2870C= (p.Ala957=) n.3463C= n.302C= n.284C= c.432C= c.2876C= (p.Ala959=) c.1772C= (p.Ala591=) | |
19 | g.12647283G>T | CA404237372 | MAN2B1 | c.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) | |
19 | g.12647284C>A | CA404237376 | MAN2B1 | c.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) | |
19 | g.12647284C>G | CA404237378 | MAN2B1 | c.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) | |
19 | g.12647284C>T | CA404237374 | MAN2B1 | c.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) | |
19 | g.12647284_12647377dup | CA920061303 | MAN2B1 | c.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 |
19 | g.12647285C>A | CA505770588 | MAN2B1 | c.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=) | |
19 | g.12647285C>G | CA505770589 | MAN2B1 | c.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=) | |
19 | g.12647285C>T | CA505770590 | MAN2B1 | c.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=) | |
19 | g.12647286A= | CA2323498559 | MAN2B1 | c.2870T= (p.Val957=) c.2867T= (p.Val956=) n.3460T= n.299T= n.281T= c.429T= c.2873T= (p.Val958=) c.1769T= (p.Val590=) | |
19 | g.12647286A>C | CA404237379 | MAN2B1 | c.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) | |
19 | g.12647286A>G | CA9225891 | MAN2B1 | c.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 |
19 | g.12647286A>T | CA404237382 | MAN2B1 | c.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) | |
19 | g.12647286_12647287delinsAC | CA2323498560 | MAN2B1 | c.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=) | |
19 | g.12647287C>A | CA404237384 | MAN2B1 | c.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 |
19 | g.12647287C= | CA2323498561 | MAN2B1 | c.2869G= (p.Val957=) c.2866G= (p.Val956=) n.3459G= n.298G= n.280G= c.428G= c.2872G= (p.Val958=) c.1768G= (p.Val590=) | |
19 | g.12647287C>G | CA404237386 | MAN2B1 | c.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) | |
19 | g.12647287C>T | CA404237388 | MAN2B1 | c.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) | |
19 | g.12647288del | CA632119523 | MAN2B1 | c.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 |
19 | g.12647288C>A | CA505770595 | MAN2B1 | c.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=) | |
19 | g.12647288C= | CA2323498562 | MAN2B1 | c.2868G= (p.Leu956=) c.2865G= (p.Leu955=) n.3458G= n.297G= n.279G= c.427G= c.2871G= (p.Leu957=) c.1767G= (p.Leu589=) | |
19 | g.12647288C>G | CA505770596 | MAN2B1 | c.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 |
19 | g.12647288C>T | CA505770597 | MAN2B1 | c.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 |
19 | g.12647289A= | CA2323498563 | MAN2B1 | c.2867T= (p.Leu956=) c.2864T= (p.Leu955=) n.3457T= n.296T= n.278T= c.426T= c.2870T= (p.Leu957=) c.1766T= (p.Leu589=) | |
19 | g.12647289A>C | CA350887 | MAN2B1 | c.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 |
19 | g.12647289A>G | CA404237393 | MAN2B1 | c.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 |
19 | g.12647289A>T | CA404237391 | MAN2B1 | c.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) | |
19 | g.12647290G>A | CA505770603 | MAN2B1 | c.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=) | |
19 | g.12647290G>C | CA404237394 | MAN2B1 | c.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) | |
19 | g.12647290G>T | CA404237396 | MAN2B1 | c.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) | |
19 | g.12647291C>A | CA505770604 | MAN2B1 | c.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=) | |
19 | g.12647291C= | CA2323498564 | MAN2B1 | c.2865G= (p.Thr955=) c.2862G= (p.Thr954=) n.3455G= n.294G= n.276G= c.424G= c.2868G= (p.Thr956=) c.1764G= (p.Thr588=) | |
19 | g.12647291C>G | CA221085 | MAN2B1 | c.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 |
19 | g.12647291C>T | CA9225892 | MAN2B1 | c.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 |
19 | g.12647292G>A | CA9225893 | MAN2B1 | c.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 |
19 | g.12647292G>C | CA404237403 | MAN2B1 | c.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) | |
19 | g.12647292G= | CA2323498565 | MAN2B1 | c.2864C= (p.Thr955=) c.2861C= (p.Thr954=) n.3454C= n.293C= n.275C= c.423C= c.2867C= (p.Thr956=) c.1763C= (p.Thr588=) | |
19 | g.12647292G>T | CA404237401 | MAN2B1 | c.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) | |
19 | g.12647293T>A | CA404237406 | MAN2B1 | c.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) | |
19 | g.12647293T>C | CA404237409 | MAN2B1 | c.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 |
19 | g.12647293T>G | CA404237408 | MAN2B1 | c.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) | |
19 | g.12647294G>A | CA505770610 | MAN2B1 | c.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 |
19 | g.12647294G>C | CA505770611 | MAN2B1 | c.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 |
19 | g.12647294G>T | CA505770612 | MAN2B1 | c.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=) | |
19 | g.12647295G>A | CA404237412 | MAN2B1 | c.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 |
19 | g.12647295G>C | CA404237415 | MAN2B1 | c.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) | |
19 | g.12647295G>T | CA404237414 | MAN2B1 | c.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) | |
19 | g.12647296T>A | CA404237417 | MAN2B1 | c.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) | |
19 | g.12647296T>C | CA404237419 | MAN2B1 | c.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) | |
19 | g.12647296T>G | CA404237421 | MAN2B1 | c.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) | |
19 | g.12647297C>A | CA404237423 | MAN2B1 | c.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 |
19 | g.12647297C= | CA2323498566 | MAN2B1 | c.2859G= (p.Glu953=) c.2856G= (p.Glu952=) n.3449G= n.288G= n.270G= c.418G= c.2862G= (p.Glu954=) c.1758G= (p.Glu586=) | |
19 | g.12647297C>G | CA404237425 | MAN2B1 | c.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) | |
19 | g.12647297C>T | CA505770615 | MAN2B1 | c.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=) | |
19 | g.12647298T>A | CA404237426 | MAN2B1 | c.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) | |
19 | g.12647298T>C | CA404237428 | MAN2B1 | c.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) | |
19 | g.12647298T>G | CA404237430 | MAN2B1 | c.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) | |
19 | g.12647299C>A | CA404237432 | MAN2B1 | c.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) | |
19 | g.12647299C>G | CA404237433 | MAN2B1 | c.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) | |
19 | g.12647299C>T | CA404237435 | MAN2B1 | c.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 |
19 | g.12647300C>A | CA404237439 | MAN2B1 | c.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) | |
19 | g.12647300C= | CA2323498567 | MAN2B1 | c.2856G= (p.Gln952=) c.2853G= (p.Gln951=) n.3446G= n.285G= n.267G= c.415G= c.2859G= (p.Gln953=) c.1755G= (p.Gln585=) | |
19 | g.12647300C>G | CA404237438 | MAN2B1 | c.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) | |
19 | g.12647300C>T | CA505770621 | MAN2B1 | c.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 |
19 | g.12647301T>A | CA404237442 | MAN2B1 | c.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) | |
19 | g.12647301T>C | CA404237443 | MAN2B1 | c.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) | |
19 | g.12647301T>G | CA404237445 | MAN2B1 | c.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) | |
19 | g.12647302G>A | CA404237448 | MAN2B1 | c.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) | |
19 | g.12647302G>C | CA404237449 | MAN2B1 | c.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) | |
19 | g.12647302G>T | CA404237451 | MAN2B1 | c.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) | |
19 | g.12647303C>A | CA505770625 | MAN2B1 | c.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=) | |
19 | g.12647303C>G | CA505770626 | MAN2B1 | c.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=) | |
19 | g.12647303C>T | CA505770627 | MAN2B1 | c.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 |
19 | g.12647304A>C | CA404237453 | MAN2B1 | c.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) | |
19 | g.12647304A>G | CA404237455 | MAN2B1 | c.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) | |
19 | g.12647304A>T | CA404237457 | MAN2B1 | c.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) | |
19 | g.12647305G>A | CA505770631 | MAN2B1 | c.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=) | |
19 | g.12647305G>C | CA404237462 | MAN2B1 | c.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) | |
19 | g.12647305G>T | CA404237463 | MAN2B1 | c.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) | |
19 | g.12647306del | CA2695228379 | MAN2B1 | c.2851del (p.Leu951CysfsTer?) c.2848del (p.Leu950CysfsTer?) n.3441del n.280del n.262del c.410del c.2854del (p.Leu952CysfsTer?) c.1750del (p.Leu584CysfsTer?) | |
19 | g.12647306G>A | CA505770633 | MAN2B1 | c.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 |
19 | g.12647306G>C | CA505770634 | MAN2B1 | c.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=) | |
19 | g.12647306G>T | CA505770636 | MAN2B1 | c.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 |
19 | g.12647307C>A | CA404237468 | MAN2B1 | c.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 |
19 | g.12647307C= | CA2323498568 | MAN2B1 | c.2849G= (p.Arg950=) c.2846G= (p.Arg949=) n.3439G= n.278G= n.260G= c.408G= c.2852G= (p.Arg951=) c.1748G= (p.Arg583=) | |
19 | g.12647307C>G | CA350975 | MAN2B1 | c.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 |
19 | g.12647307C>T | CA9225894 | MAN2B1 | c.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 |
19 | g.12647308G>A | CA9225895 | MAN2B1 | c.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 |
19 | g.12647308G>C | CA404237470 | MAN2B1 | c.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) | |
19 | g.12647308G= | CA2323498570 | MAN2B1 | c.2848C= (p.Arg950=) c.2845C= (p.Arg949=) n.3438C= n.277C= n.259C= c.407C= c.2851C= (p.Arg951=) c.1747C= (p.Arg583=) | |
19 | g.12647308G>T | CA404237472 | MAN2B1 | c.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 |
19 | g.12647309_12647310dup | CA2323498569 | MAN2B1 | c.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 |
19 | g.12647309G>A | CA505770642 | MAN2B1 | c.2847C>T (p.Thr949=) c.2844C>T (p.Thr948=) n.3437C>T n.276C>T n.258C>T c.406C>T c.2850C>T (p.Thr950=) c.1746C>T (p.Thr582=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.12647309G>C | CA505770643 | MAN2B1 | c.2847C>G (p.Thr949=) c.2844C>G (p.Thr948=) n.3437C>G n.276C>G n.258C>G c.406C>G c.2850C>G (p.Thr950=) c.1746C>G (p.Thr582=) | |
19 | g.12647309G= | CA2323498571 | MAN2B1 | c.2847C= (p.Thr949=) c.2844C= (p.Thr948=) n.3437C= n.276C= n.258C= c.406C= c.2850C= (p.Thr950=) c.1746C= (p.Thr582=) | |
19 | g.12647309G>T | CA505770645 | MAN2B1 | c.2847C>A (p.Thr949=) c.2844C>A (p.Thr948=) n.3437C>A n.276C>A n.258C>A c.406C>A c.2850C>A (p.Thr950=) c.1746C>A (p.Thr582=) | gnomAD v4 |
19 | g.12647310G>A | CA9225896 | MAN2B1 | c.2846C>T (p.Thr949Ile) c.2843C>T (p.Thr948Ile) n.3436C>T n.275C>T n.257C>T c.405C>T c.2849C>T (p.Thr950Ile) c.1745C>T (p.Thr582Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12647310G>C | CA404237475 | MAN2B1 | c.2846C>G (p.Thr949Ser) c.2843C>G (p.Thr948Ser) n.3436C>G n.275C>G n.257C>G c.405C>G c.2849C>G (p.Thr950Ser) c.1745C>G (p.Thr582Ser) | |
19 | g.12647310G= | CA2323498572 | MAN2B1 | c.2846C= (p.Thr949=) c.2843C= (p.Thr948=) n.3436C= n.275C= n.257C= c.405C= c.2849C= (p.Thr950=) c.1745C= (p.Thr582=) | |
19 | g.12647310G>T | CA404237477 | MAN2B1 | c.2846C>A (p.Thr949Asn) c.2843C>A (p.Thr948Asn) n.3436C>A n.275C>A n.257C>A c.405C>A c.2849C>A (p.Thr950Asn) c.1745C>A (p.Thr582Asn) | |
19 | g.12647311T>A | CA404237479 | MAN2B1 | c.2845A>T (p.Thr949Ser) c.2842A>T (p.Thr948Ser) n.3435A>T n.274A>T n.256A>T c.404A>T c.2848A>T (p.Thr950Ser) c.1744A>T (p.Thr582Ser) | |
19 | g.12647311T>C | CA404237480 | MAN2B1 | c.2845A>G (p.Thr949Ala) c.2842A>G (p.Thr948Ala) n.3435A>G n.274A>G n.256A>G c.404A>G c.2848A>G (p.Thr950Ala) c.1744A>G (p.Thr582Ala) | |
19 | g.12647311T>G | CA404237483 | MAN2B1 | c.2845A>C (p.Thr949Pro) c.2842A>C (p.Thr948Pro) n.3435A>C n.274A>C n.256A>C c.404A>C c.2848A>C (p.Thr950Pro) c.1744A>C (p.Thr582Pro) | dbSNP |
19 | g.12647312G>A | CA505770648 | MAN2B1 | c.2844C>T (p.Ile948=) c.2841C>T (p.Ile947=) n.3434C>T n.273C>T n.255C>T c.403C>T c.2847C>T (p.Ile949=) c.1743C>T (p.Ile581=) | ClinVar dbSNP |
19 | g.12647312G>C | CA404237485 | MAN2B1 | c.2844C>G (p.Ile948Met) c.2841C>G (p.Ile947Met) n.3434C>G n.273C>G n.255C>G c.403C>G c.2847C>G (p.Ile949Met) c.1743C>G (p.Ile581Met) | |
19 | g.12647312G= | CA2323498573 | MAN2B1 | c.2844C= (p.Ile948=) c.2841C= (p.Ile947=) n.3434C= n.273C= n.255C= c.403C= c.2847C= (p.Ile949=) c.1743C= (p.Ile581=) | |
19 | g.12647312G>T | CA505770649 | MAN2B1 | c.2844C>A (p.Ile948=) c.2841C>A (p.Ile947=) n.3434C>A n.273C>A n.255C>A c.403C>A c.2847C>A (p.Ile949=) c.1743C>A (p.Ile581=) | |
19 | g.12647313A>C | CA404237487 | MAN2B1 | c.2843T>G (p.Ile948Ser) c.2840T>G (p.Ile947Ser) n.3433T>G n.272T>G n.254T>G c.402T>G c.2846T>G (p.Ile949Ser) c.1742T>G (p.Ile581Ser) | |
19 | g.12647313A>G | CA404237489 | MAN2B1 | c.2843T>C (p.Ile948Thr) c.2840T>C (p.Ile947Thr) n.3433T>C n.272T>C n.254T>C c.402T>C c.2846T>C (p.Ile949Thr) c.1742T>C (p.Ile581Thr) | |
19 | g.12647313A>T | CA404237491 | MAN2B1 | c.2843T>A (p.Ile948Asn) c.2840T>A (p.Ile947Asn) n.3433T>A n.272T>A n.254T>A c.402T>A c.2846T>A (p.Ile949Asn) c.1742T>A (p.Ile581Asn) | |
19 | g.12647314T>A | CA404237493 | MAN2B1 | c.2842A>T (p.Ile948Phe) c.2839A>T (p.Ile947Phe) n.3432A>T n.271A>T n.253A>T c.401A>T c.2845A>T (p.Ile949Phe) c.1741A>T (p.Ile581Phe) | |
19 | g.12647314T>C | CA404237497 | MAN2B1 | c.2842A>G (p.Ile948Val) c.2839A>G (p.Ile947Val) n.3432A>G n.271A>G n.253A>G c.401A>G c.2845A>G (p.Ile949Val) c.1741A>G (p.Ile581Val) | COSMIC |
19 | g.12647314T>G | CA404237495 | MAN2B1 | c.2842A>C (p.Ile948Leu) c.2839A>C (p.Ile947Leu) n.3432A>C n.271A>C n.253A>C c.401A>C c.2845A>C (p.Ile949Leu) c.1741A>C (p.Ile581Leu) | |
19 | g.12647315G>A | CA505770652 | MAN2B1 | c.2841C>T (p.Thr947=) c.2838C>T (p.Thr946=) n.3431C>T n.270C>T n.252C>T c.400C>T c.2844C>T (p.Thr948=) c.1740C>T (p.Thr580=) | gnomAD v4 |
19 | g.12647315G>C | CA505770653 | MAN2B1 | c.2841C>G (p.Thr947=) c.2838C>G (p.Thr946=) n.3431C>G n.270C>G n.252C>G c.400C>G c.2844C>G (p.Thr948=) c.1740C>G (p.Thr580=) | |
19 | g.12647315G= | CA2323498574 | MAN2B1 | c.2841C= (p.Thr947=) c.2838C= (p.Thr946=) n.3431C= n.270C= n.252C= c.400C= c.2844C= (p.Thr948=) c.1740C= (p.Thr580=) | |
19 | g.12647315G>T | CA505770654 | MAN2B1 | c.2841C>A (p.Thr947=) c.2838C>A (p.Thr946=) n.3431C>A n.270C>A n.252C>A c.400C>A c.2844C>A (p.Thr948=) c.1740C>A (p.Thr580=) | ClinVar dbSNP |
19 | g.12647316G>A | CA404237499 | MAN2B1 | c.2840C>T (p.Thr947Ile) c.2837C>T (p.Thr946Ile) n.3430C>T n.269C>T n.251C>T c.399C>T c.2843C>T (p.Thr948Ile) c.1739C>T (p.Thr580Ile) | gnomAD v4 |
19 | g.12647316G>C | CA404237500 | MAN2B1 | c.2840C>G (p.Thr947Ser) c.2837C>G (p.Thr946Ser) n.3430C>G n.269C>G n.251C>G c.399C>G c.2843C>G (p.Thr948Ser) c.1739C>G (p.Thr580Ser) | |
19 | g.12647316G>T | CA404237502 | MAN2B1 | c.2840C>A (p.Thr947Asn) c.2837C>A (p.Thr946Asn) n.3430C>A n.269C>A n.251C>A c.399C>A c.2843C>A (p.Thr948Asn) c.1739C>A (p.Thr580Asn) | |
19 | g.12647317T>A | CA404237504 | MAN2B1 | c.2839A>T (p.Thr947Ser) c.2836A>T (p.Thr946Ser) n.3429A>T n.268A>T n.250A>T c.398A>T c.2842A>T (p.Thr948Ser) c.1738A>T (p.Thr580Ser) | |
19 | g.12647317T>C | CA404237506 | MAN2B1 | c.2839A>G (p.Thr947Ala) c.2836A>G (p.Thr946Ala) n.3429A>G n.268A>G n.250A>G c.398A>G c.2842A>G (p.Thr948Ala) c.1738A>G (p.Thr580Ala) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.12647317T>G | CA404237508 | MAN2B1 | c.2839A>C (p.Thr947Pro) c.2836A>C (p.Thr946Pro) n.3429A>C n.268A>C n.250A>C c.398A>C c.2842A>C (p.Thr948Pro) c.1738A>C (p.Thr580Pro) | |
19 | g.12647317T= | CA2323498575 | MAN2B1 | c.2839A= (p.Thr947=) c.2836A= (p.Thr946=) n.3429A= n.268A= n.250A= c.398A= c.2842A= (p.Thr948=) c.1738A= (p.Thr580=) | |
19 | g.12647318G>A | CA505770656 | MAN2B1 | c.2838C>T (p.Phe946=) c.2835C>T (p.Phe945=) n.3428C>T n.267C>T n.249C>T c.397C>T c.2841C>T (p.Phe947=) c.1737C>T (p.Phe579=) | dbSNP |
19 | g.12647318G>C | CA404237510 | MAN2B1 | c.2838C>G (p.Phe946Leu) c.2835C>G (p.Phe945Leu) n.3428C>G n.267C>G n.249C>G c.397C>G c.2841C>G (p.Phe947Leu) c.1737C>G (p.Phe579Leu) | gnomAD v4 |
19 | g.12647318G>T | CA404237512 | MAN2B1 | c.2838C>A (p.Phe946Leu) c.2835C>A (p.Phe945Leu) n.3428C>A n.267C>A n.249C>A c.397C>A c.2841C>A (p.Phe947Leu) c.1737C>A (p.Phe579Leu) | |
19 | g.12647319A>C | CA404237513 | MAN2B1 | c.2837T>G (p.Phe946Cys) c.2834T>G (p.Phe945Cys) n.3427T>G n.266T>G n.248T>G c.396T>G c.2840T>G (p.Phe947Cys) c.1736T>G (p.Phe579Cys) | |
19 | g.12647319A>G | CA404237514 | MAN2B1 | c.2837T>C (p.Phe946Ser) c.2834T>C (p.Phe945Ser) n.3427T>C n.266T>C n.248T>C c.396T>C c.2840T>C (p.Phe947Ser) c.1736T>C (p.Phe579Ser) | |
19 | g.12647319A>T | CA404237516 | MAN2B1 | c.2837T>A (p.Phe946Tyr) c.2834T>A (p.Phe945Tyr) n.3427T>A n.266T>A n.248T>A c.396T>A c.2840T>A (p.Phe947Tyr) c.1736T>A (p.Phe579Tyr) |