Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.12649944_12649947del | CA9226151 | MAN2B1 | c.2237_2240del (p.Asp746AlafsTer19) c.2234_2237del (p.Asp745AlafsTer19) n.2827_2830del c.2240_2243del (p.Asp747AlafsTer19) c.1136_1139del (p.Asp379AlafsTer19) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12649946G>A | CA404242655 | MAN2B1 | c.2234C>T (p.Thr745Ile) c.2231C>T (p.Thr744Ile) n.2824C>T c.2237C>T (p.Thr746Ile) c.1133C>T (p.Thr378Ile) | |
19 | g.12649946G>C | CA350911 | MAN2B1 | c.2234C>G (p.Thr745Arg) c.2231C>G (p.Thr744Arg) n.2824C>G c.2237C>G (p.Thr746Arg) c.1133C>G (p.Thr378Arg) | ClinVar dbSNP |
19 | g.12649946G= | CA2323500011 | MAN2B1 | c.2234C= (p.Thr745=) c.2231C= (p.Thr744=) n.2824C= c.2237C= (p.Thr746=) c.1133C= (p.Thr378=) | |
19 | g.12649946G>T | CA404242652 | MAN2B1 | c.2234C>A (p.Thr745Lys) c.2231C>A (p.Thr744Lys) n.2824C>A c.2237C>A (p.Thr746Lys) c.1133C>A (p.Thr378Lys) | |
19 | g.12649947T>A | CA404242659 | MAN2B1 | c.2233A>T (p.Thr745Ser) c.2230A>T (p.Thr744Ser) n.2823A>T c.2236A>T (p.Thr746Ser) c.1132A>T (p.Thr378Ser) | |
19 | g.12649947T>C | CA404242660 | MAN2B1 | c.2233A>G (p.Thr745Ala) c.2230A>G (p.Thr744Ala) n.2823A>G c.2236A>G (p.Thr746Ala) c.1132A>G (p.Thr378Ala) | |
19 | g.12649947T>G | CA404242663 | MAN2B1 | c.2233A>C (p.Thr745Pro) c.2230A>C (p.Thr744Pro) n.2823A>C c.2236A>C (p.Thr746Pro) c.1132A>C (p.Thr378Pro) | |
19 | g.12649948G>A | CA505770877 | MAN2B1 | c.2232C>T (p.Tyr744=) c.2229C>T (p.Tyr743=) n.2822C>T c.2235C>T (p.Tyr745=) c.1131C>T (p.Tyr377=) | |
19 | g.12649948G>C | CA404242666 | MAN2B1 | c.2232C>G (p.Tyr744Ter) c.2229C>G (p.Tyr743Ter) n.2822C>G c.2235C>G (p.Tyr745Ter) c.1131C>G (p.Tyr377Ter) | |
19 | g.12649948G>T | CA404242668 | MAN2B1 | c.2232C>A (p.Tyr744Ter) c.2229C>A (p.Tyr743Ter) n.2822C>A c.2235C>A (p.Tyr745Ter) c.1131C>A (p.Tyr377Ter) | |
19 | g.12649949T>A | CA404242675 | MAN2B1 | c.2231A>T (p.Tyr744Phe) c.2228A>T (p.Tyr743Phe) n.2821A>T c.2234A>T (p.Tyr745Phe) c.1130A>T (p.Tyr377Phe) | |
19 | g.12649949T>C | CA404242670 | MAN2B1 | c.2231A>G (p.Tyr744Cys) c.2228A>G (p.Tyr743Cys) n.2821A>G c.2234A>G (p.Tyr745Cys) c.1130A>G (p.Tyr377Cys) | |
19 | g.12649949T>G | CA404242673 | MAN2B1 | c.2231A>C (p.Tyr744Ser) c.2228A>C (p.Tyr743Ser) n.2821A>C c.2234A>C (p.Tyr745Ser) c.1130A>C (p.Tyr377Ser) | gnomAD v4 |
19 | g.12649950A>C | CA404242678 | MAN2B1 | c.2230T>G (p.Tyr744Asp) c.2227T>G (p.Tyr743Asp) n.2820T>G c.2233T>G (p.Tyr745Asp) c.1129T>G (p.Tyr377Asp) | |
19 | g.12649950A>G | CA404242681 | MAN2B1 | c.2230T>C (p.Tyr744His) c.2227T>C (p.Tyr743His) n.2820T>C c.2233T>C (p.Tyr745His) c.1129T>C (p.Tyr377His) | |
19 | g.12649950A>T | CA404242683 | MAN2B1 | c.2230T>A (p.Tyr744Asn) c.2227T>A (p.Tyr743Asn) n.2820T>A c.2233T>A (p.Tyr745Asn) c.1129T>A (p.Tyr377Asn) | |
19 | g.12649951G>A | CA505770878 | MAN2B1 | c.2229C>T (p.Phe743=) c.2226C>T (p.Phe742=) n.2819C>T c.2232C>T (p.Phe744=) c.1128C>T (p.Phe376=) | dbSNP COSMIC |
19 | g.12649951G>C | CA404242684 | MAN2B1 | c.2229C>G (p.Phe743Leu) c.2226C>G (p.Phe742Leu) n.2819C>G c.2232C>G (p.Phe744Leu) c.1128C>G (p.Phe376Leu) | |
19 | g.12649951G>T | CA404242686 | MAN2B1 | c.2229C>A (p.Phe743Leu) c.2226C>A (p.Phe742Leu) n.2819C>A c.2232C>A (p.Phe744Leu) c.1128C>A (p.Phe376Leu) | |
19 | g.12649952A>C | CA404242693 | MAN2B1 | c.2228T>G (p.Phe743Cys) c.2225T>G (p.Phe742Cys) n.2818T>G c.2231T>G (p.Phe744Cys) c.1127T>G (p.Phe376Cys) | |
19 | g.12649952A>G | CA404242690 | MAN2B1 | c.2228T>C (p.Phe743Ser) c.2225T>C (p.Phe742Ser) n.2818T>C c.2231T>C (p.Phe744Ser) c.1127T>C (p.Phe376Ser) | |
19 | g.12649952A>T | CA404242688 | MAN2B1 | c.2228T>A (p.Phe743Tyr) c.2225T>A (p.Phe742Tyr) n.2818T>A c.2231T>A (p.Phe744Tyr) c.1127T>A (p.Phe376Tyr) | |
19 | g.12649953A= | CA2323500012 | MAN2B1 | c.2227T= (p.Phe743=) c.2224T= (p.Phe742=) n.2817T= c.2230T= (p.Phe744=) c.1126T= (p.Phe376=) | |
19 | g.12649953A>C | CA404242696 | MAN2B1 | c.2227T>G (p.Phe743Val) c.2224T>G (p.Phe742Val) n.2817T>G c.2230T>G (p.Phe744Val) c.1126T>G (p.Phe376Val) | |
19 | g.12649953A>G | CA404242698 | MAN2B1 | c.2227T>C (p.Phe743Leu) c.2224T>C (p.Phe742Leu) n.2817T>C c.2230T>C (p.Phe744Leu) c.1126T>C (p.Phe376Leu) | |
19 | g.12649953A>T | CA9226152 | MAN2B1 | c.2227T>A (p.Phe743Ile) c.2224T>A (p.Phe742Ile) n.2817T>A c.2230T>A (p.Phe744Ile) c.1126T>A (p.Phe376Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12649954G>A | CA9226153 | MAN2B1 | c.2226C>T (p.Arg742=) c.2223C>T (p.Arg741=) n.2816C>T c.2229C>T (p.Arg743=) c.1125C>T (p.Arg375=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12649954G>C | CA505770882 | MAN2B1 | c.2226C>G (p.Arg742=) c.2223C>G (p.Arg741=) n.2816C>G c.2229C>G (p.Arg743=) c.1125C>G (p.Arg375=) | |
19 | g.12649954G= | CA2323500013 | MAN2B1 | c.2226C= (p.Arg742=) c.2223C= (p.Arg741=) n.2816C= c.2229C= (p.Arg743=) c.1125C= (p.Arg375=) | |
19 | g.12649954G>T | CA505770883 | MAN2B1 | c.2226C>A (p.Arg742=) c.2223C>A (p.Arg741=) n.2816C>A c.2229C>A (p.Arg743=) c.1125C>A (p.Arg375=) | |
19 | g.12649955C>A | CA404242712 | MAN2B1 | c.2225G>T (p.Arg742Leu) c.2222G>T (p.Arg741Leu) n.2815G>T c.2228G>T (p.Arg743Leu) c.1124G>T (p.Arg375Leu) | dbSNP gnomAD v4 |
19 | g.12649955C= | CA2323500014 | MAN2B1 | c.2225G= (p.Arg742=) c.2222G= (p.Arg741=) n.2815G= c.2228G= (p.Arg743=) c.1124G= (p.Arg375=) | |
19 | g.12649955C>G | CA404242715 | MAN2B1 | c.2225G>C (p.Arg742Pro) c.2222G>C (p.Arg741Pro) n.2815G>C c.2228G>C (p.Arg743Pro) c.1124G>C (p.Arg375Pro) | gnomAD v4 |
19 | g.12649955C>T | CA9226154 | MAN2B1 | c.2225G>A (p.Arg742His) c.2222G>A (p.Arg741His) n.2815G>A c.2228G>A (p.Arg743His) c.1124G>A (p.Arg375His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12649956G>A | CA9226155 | MAN2B1 | c.2224C>T (p.Arg742Cys) c.2221C>T (p.Arg741Cys) n.2814C>T c.2227C>T (p.Arg743Cys) c.1123C>T (p.Arg375Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.12649956G>C | CA9226156 | MAN2B1 | c.2224C>G (p.Arg742Gly) c.2221C>G (p.Arg741Gly) n.2814C>G c.2227C>G (p.Arg743Gly) c.1123C>G (p.Arg375Gly) | dbSNP ExAC gnomAD v2 |
19 | g.12649956G= | CA2323500015 | MAN2B1 | c.2224C= (p.Arg742=) c.2221C= (p.Arg741=) n.2814C= c.2227C= (p.Arg743=) c.1123C= (p.Arg375=) | |
19 | g.12649956G>T | CA404242723 | MAN2B1 | c.2224C>A (p.Arg742Ser) c.2221C>A (p.Arg741Ser) n.2814C>A c.2227C>A (p.Arg743Ser) c.1123C>A (p.Arg375Ser) | |
19 | g.12649957T>A | CA505770889 | MAN2B1 | c.2223A>T (p.Gly741=) c.2220A>T (p.Gly740=) n.2813A>T c.2226A>T (p.Gly742=) c.1122A>T (p.Gly374=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.12649957T>C | CA505770885 | MAN2B1 | c.2223A>G (p.Gly741=) c.2220A>G (p.Gly740=) n.2813A>G c.2226A>G (p.Gly742=) c.1122A>G (p.Gly374=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.12649957T>G | CA505770887 | MAN2B1 | c.2223A>C (p.Gly741=) c.2220A>C (p.Gly740=) n.2813A>C c.2226A>C (p.Gly742=) c.1122A>C (p.Gly374=) | |
19 | g.12649957T= | CA2323500016 | MAN2B1 | c.2223A= (p.Gly741=) c.2220A= (p.Gly740=) n.2813A= c.2226A= (p.Gly742=) c.1122A= (p.Gly374=) | |
19 | g.12649958C>A | CA404242724 | MAN2B1 | c.2222G>T (p.Gly741Val) c.2219G>T (p.Gly740Val) n.2812G>T c.2225G>T (p.Gly742Val) c.1121G>T (p.Gly374Val) | |
19 | g.12649958C= | CA2323500017 | MAN2B1 | c.2222G= (p.Gly741=) c.2219G= (p.Gly740=) n.2812G= c.2225G= (p.Gly742=) c.1121G= (p.Gly374=) | |
19 | g.12649958C>G | CA404242726 | MAN2B1 | c.2222G>C (p.Gly741Ala) c.2219G>C (p.Gly740Ala) n.2812G>C c.2225G>C (p.Gly742Ala) c.1121G>C (p.Gly374Ala) | |
19 | g.12649958C>T | CA404242728 | MAN2B1 | c.2222G>A (p.Gly741Glu) c.2219G>A (p.Gly740Glu) n.2812G>A c.2225G>A (p.Gly742Glu) c.1121G>A (p.Gly374Glu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.12649960del | CA2695198133 | MAN2B1 | c.2222del (p.Gly741AspfsTer25) c.2219del (p.Gly740AspfsTer25) n.2812del c.2225del (p.Gly742AspfsTer25) c.1121del (p.Gly374AspfsTer25) | ClinVar |
19 | g.12649959C>A | CA404242735 | MAN2B1 | c.2221G>T (p.Gly741Ter) c.2218G>T (p.Gly740Ter) n.2811G>T c.2224G>T (p.Gly742Ter) c.1120G>T (p.Gly374Ter) | |
19 | g.12649959C= | CA2323500018 | MAN2B1 | c.2221G= (p.Gly741=) c.2218G= (p.Gly740=) n.2811G= c.2224G= (p.Gly742=) c.1120G= (p.Gly374=) |