Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.12649918C>A | CA404242497 | MAN2B1 | c.2262G>T (p.Glu754Asp) c.2259G>T (p.Glu753Asp) n.2852G>T c.2265G>T (p.Glu755Asp) c.1161G>T (p.Glu387Asp) | |
19 | g.12649918C>G | CA404242499 | MAN2B1 | c.2262G>C (p.Glu754Asp) c.2259G>C (p.Glu753Asp) n.2852G>C c.2265G>C (p.Glu755Asp) c.1161G>C (p.Glu387Asp) | |
19 | g.12649918C>T | CA505770842 | MAN2B1 | c.2262G>A (p.Glu754=) c.2259G>A (p.Glu753=) n.2852G>A c.2265G>A (p.Glu755=) c.1161G>A (p.Glu387=) | gnomAD v4 |
19 | g.12649919T>A | CA404242508 | MAN2B1 | c.2261A>T (p.Glu754Val) c.2258A>T (p.Glu753Val) n.2851A>T c.2264A>T (p.Glu755Val) c.1160A>T (p.Glu387Val) | |
19 | g.12649919T>C | CA404242505 | MAN2B1 | c.2261A>G (p.Glu754Gly) c.2258A>G (p.Glu753Gly) n.2851A>G c.2264A>G (p.Glu755Gly) c.1160A>G (p.Glu387Gly) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.12649919T>G | CA404242502 | MAN2B1 | c.2261A>C (p.Glu754Ala) c.2258A>C (p.Glu753Ala) n.2851A>C c.2264A>C (p.Glu755Ala) c.1160A>C (p.Glu387Ala) | |
19 | g.12649919T= | CA2323499997 | MAN2B1 | c.2261A= (p.Glu754=) c.2258A= (p.Glu753=) n.2851A= c.2264A= (p.Glu755=) c.1160A= (p.Glu387=) | |
19 | g.12649920C>A | CA404242509 | MAN2B1 | c.2260G>T (p.Glu754Ter) c.2257G>T (p.Glu753Ter) n.2850G>T c.2263G>T (p.Glu755Ter) c.1159G>T (p.Glu387Ter) | |
19 | g.12649920C= | CA2323499998 | MAN2B1 | c.2260G= (p.Glu754=) c.2257G= (p.Glu753=) n.2850G= c.2263G= (p.Glu755=) c.1159G= (p.Glu387=) | |
19 | g.12649920C>G | CA404242513 | MAN2B1 | c.2260G>C (p.Glu754Gln) c.2257G>C (p.Glu753Gln) n.2850G>C c.2263G>C (p.Glu755Gln) c.1159G>C (p.Glu387Gln) | |
19 | g.12649920C>T | CA9226146 | MAN2B1 | c.2260G>A (p.Glu754Lys) c.2257G>A (p.Glu753Lys) n.2850G>A c.2263G>A (p.Glu755Lys) c.1159G>A (p.Glu387Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12649921del | CA2576635000 | MAN2B1 | c.2260del (p.Glu754ArgfsTer12) c.2257del (p.Glu753ArgfsTer12) n.2850del c.2263del (p.Glu755ArgfsTer12) c.1159del (p.Glu387ArgfsTer12) | |
19 | g.12649921C>A | CA505770846 | MAN2B1 | c.2259G>T (p.Leu753=) c.2256G>T (p.Leu752=) n.2849G>T c.2262G>T (p.Leu754=) c.1158G>T (p.Leu386=) | |
19 | g.12649921C>G | CA505770847 | MAN2B1 | c.2259G>C (p.Leu753=) c.2256G>C (p.Leu752=) n.2849G>C c.2262G>C (p.Leu754=) c.1158G>C (p.Leu386=) | |
19 | g.12649921C>T | CA505770848 | MAN2B1 | c.2259G>A (p.Leu753=) c.2256G>A (p.Leu752=) n.2849G>A c.2262G>A (p.Leu754=) c.1158G>A (p.Leu386=) | |
19 | g.12649922A= | CA2323499999 | MAN2B1 | c.2258T= (p.Leu753=) c.2255T= (p.Leu752=) n.2848T= c.2261T= (p.Leu754=) c.1157T= (p.Leu386=) | |
19 | g.12649922A>C | CA404242516 | MAN2B1 | c.2258T>G (p.Leu753Arg) c.2255T>G (p.Leu752Arg) n.2848T>G c.2261T>G (p.Leu754Arg) c.1157T>G (p.Leu386Arg) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.12649922A>G | CA404242517 | MAN2B1 | c.2258T>C (p.Leu753Pro) c.2255T>C (p.Leu752Pro) n.2848T>C c.2261T>C (p.Leu754Pro) c.1157T>C (p.Leu386Pro) | |
19 | g.12649922A>T | CA404242520 | MAN2B1 | c.2258T>A (p.Leu753Gln) c.2255T>A (p.Leu752Gln) n.2848T>A c.2261T>A (p.Leu754Gln) c.1157T>A (p.Leu386Gln) | |
19 | g.12649923G>A | CA505770850 | MAN2B1 | c.2257C>T (p.Leu753=) c.2254C>T (p.Leu752=) n.2847C>T c.2260C>T (p.Leu754=) c.1156C>T (p.Leu386=) | |
19 | g.12649923G>C | CA404242524 | MAN2B1 | c.2257C>G (p.Leu753Val) c.2254C>G (p.Leu752Val) n.2847C>G c.2260C>G (p.Leu754Val) c.1156C>G (p.Leu386Val) | |
19 | g.12649923G>T | CA404242525 | MAN2B1 | c.2257C>A (p.Leu753Met) c.2254C>A (p.Leu752Met) n.2847C>A c.2260C>A (p.Leu754Met) c.1156C>A (p.Leu386Met) | |
19 | g.12649924G>A | CA505770851 | MAN2B1 | c.2256C>T (p.Ile752=) c.2253C>T (p.Ile751=) n.2846C>T c.2259C>T (p.Ile753=) c.1155C>T (p.Ile385=) | ClinVar |
19 | g.12649924G>C | CA404242527 | MAN2B1 | c.2256C>G (p.Ile752Met) c.2253C>G (p.Ile751Met) n.2846C>G c.2259C>G (p.Ile753Met) c.1155C>G (p.Ile385Met) | |
19 | g.12649924G>T | CA505770852 | MAN2B1 | c.2256C>A (p.Ile752=) c.2253C>A (p.Ile751=) n.2846C>A c.2259C>A (p.Ile753=) c.1155C>A (p.Ile385=) | |
19 | g.12649925A= | CA2323500000 | MAN2B1 | c.2255T= (p.Ile752=) c.2252T= (p.Ile751=) n.2845T= c.2258T= (p.Ile753=) c.1154T= (p.Ile385=) | |
19 | g.12649925A>C | CA404242528 | MAN2B1 | c.2255T>G (p.Ile752Ser) c.2252T>G (p.Ile751Ser) n.2845T>G c.2258T>G (p.Ile753Ser) c.1154T>G (p.Ile385Ser) | dbSNP gnomAD v2 |
19 | g.12649925A>G | CA404242530 | MAN2B1 | c.2255T>C (p.Ile752Thr) c.2252T>C (p.Ile751Thr) n.2845T>C c.2258T>C (p.Ile753Thr) c.1154T>C (p.Ile385Thr) | dbSNP |
19 | g.12649925A>T | CA404242533 | MAN2B1 | c.2255T>A (p.Ile752Asn) c.2252T>A (p.Ile751Asn) n.2845T>A c.2258T>A (p.Ile753Asn) c.1154T>A (p.Ile385Asn) | gnomAD v4 |
19 | g.12649926T>A | CA404242540 | MAN2B1 | c.2254A>T (p.Ile752Phe) c.2251A>T (p.Ile751Phe) n.2844A>T c.2257A>T (p.Ile753Phe) c.1153A>T (p.Ile385Phe) | |
19 | g.12649926T>C | CA404242538 | MAN2B1 | c.2254A>G (p.Ile752Val) c.2251A>G (p.Ile751Val) n.2844A>G c.2257A>G (p.Ile753Val) c.1153A>G (p.Ile385Val) | |
19 | g.12649926T>G | CA404242537 | MAN2B1 | c.2254A>C (p.Ile752Leu) c.2251A>C (p.Ile751Leu) n.2844A>C c.2257A>C (p.Ile753Leu) c.1153A>C (p.Ile385Leu) | |
19 | g.12649927C>A | CA404242542 | MAN2B1 | c.2253G>T (p.Glu751Asp) c.2250G>T (p.Glu750Asp) n.2843G>T c.2256G>T (p.Glu752Asp) c.1152G>T (p.Glu384Asp) | |
19 | g.12649927C= | CA2323500001 | MAN2B1 | c.2253G= (p.Glu751=) c.2250G= (p.Glu750=) n.2843G= c.2256G= (p.Glu752=) c.1152G= (p.Glu384=) | |
19 | g.12649927C>G | CA404242548 | MAN2B1 | c.2253G>C (p.Glu751Asp) c.2250G>C (p.Glu750Asp) n.2843G>C c.2256G>C (p.Glu752Asp) c.1152G>C (p.Glu384Asp) | dbSNP |
19 | g.12649927C>T | CA9226147 | MAN2B1 | c.2253G>A (p.Glu751=) c.2250G>A (p.Glu750=) n.2843G>A c.2256G>A (p.Glu752=) c.1152G>A (p.Glu384=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12649928T>A | CA404242550 | MAN2B1 | c.2252A>T (p.Glu751Val) c.2249A>T (p.Glu750Val) n.2842A>T c.2255A>T (p.Glu752Val) c.1151A>T (p.Glu384Val) | gnomAD v4 |
19 | g.12649928T>C | CA404242554 | MAN2B1 | c.2252A>G (p.Glu751Gly) c.2249A>G (p.Glu750Gly) n.2842A>G c.2255A>G (p.Glu752Gly) c.1151A>G (p.Glu384Gly) | |
19 | g.12649928T>G | CA404242552 | MAN2B1 | c.2252A>C (p.Glu751Ala) c.2249A>C (p.Glu750Ala) n.2842A>C c.2255A>C (p.Glu752Ala) c.1151A>C (p.Glu384Ala) | |
19 | g.12649929C>A | CA404242555 | MAN2B1 | c.2251G>T (p.Glu751Ter) c.2248G>T (p.Glu750Ter) n.2841G>T c.2254G>T (p.Glu752Ter) c.1150G>T (p.Glu384Ter) | COSMIC |
19 | g.12649929C= | CA2323500002 | MAN2B1 | c.2251G= (p.Glu751=) c.2248G= (p.Glu750=) n.2841G= c.2254G= (p.Glu752=) c.1150G= (p.Glu384=) | |
19 | g.12649929C>G | CA404242557 | MAN2B1 | c.2251G>C (p.Glu751Gln) c.2248G>C (p.Glu750Gln) n.2841G>C c.2254G>C (p.Glu752Gln) c.1150G>C (p.Glu384Gln) | gnomAD v4 |
19 | g.12649929C>T | CA404242558 | MAN2B1 | c.2251G>A (p.Glu751Lys) c.2248G>A (p.Glu750Lys) n.2841G>A c.2254G>A (p.Glu752Lys) c.1150G>A (p.Glu384Lys) | dbSNP gnomAD v4 |
19 | g.12649930C>A | CA505770855 | MAN2B1 | c.2250G>T (p.Arg750=) c.2247G>T (p.Arg749=) n.2840G>T c.2253G>T (p.Arg751=) c.1149G>T (p.Arg383=) | |
19 | g.12649930C>G | CA505770854 | MAN2B1 | c.2250G>C (p.Arg750=) c.2247G>C (p.Arg749=) n.2840G>C c.2253G>C (p.Arg751=) c.1149G>C (p.Arg383=) | |
19 | g.12649930C>T | CA505770853 | MAN2B1 | c.2250G>A (p.Arg750=) c.2247G>A (p.Arg749=) n.2840G>A c.2253G>A (p.Arg751=) c.1149G>A (p.Arg383=) | ClinVar dbSNP gnomAD v4 |
19 | g.12649931C>A | CA404242561 | MAN2B1 | c.2249G>T (p.Arg750Leu) c.2246G>T (p.Arg749Leu) n.2839G>T c.2252G>T (p.Arg751Leu) c.1148G>T (p.Arg383Leu) | |
19 | g.12649931C= | CA2323500003 | MAN2B1 | c.2249G= (p.Arg750=) c.2246G= (p.Arg749=) n.2839G= c.2252G= (p.Arg751=) c.1148G= (p.Arg383=) | |
19 | g.12649931C>G | CA404242563 | MAN2B1 | c.2249G>C (p.Arg750Pro) c.2246G>C (p.Arg749Pro) n.2839G>C c.2252G>C (p.Arg751Pro) c.1148G>C (p.Arg383Pro) | |
19 | g.12649931C>T | CA9226148 | MAN2B1 | c.2249G>A (p.Arg750Gln) c.2246G>A (p.Arg749Gln) n.2839G>A c.2252G>A (p.Arg751Gln) c.1148G>A (p.Arg383Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12649932G>A | CA339901 | MAN2B1 | c.2248C>T (p.Arg750Trp) c.2245C>T (p.Arg749Trp) n.2838C>T c.2251C>T (p.Arg751Trp) c.1147C>T (p.Arg383Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12649932G>C | CA404242568 | MAN2B1 | c.2248C>G (p.Arg750Gly) c.2245C>G (p.Arg749Gly) n.2838C>G c.2251C>G (p.Arg751Gly) c.1147C>G (p.Arg383Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12649932G= | CA2323500004 | MAN2B1 | c.2248C= (p.Arg750=) c.2245C= (p.Arg749=) n.2838C= c.2251C= (p.Arg751=) c.1147C= (p.Arg383=) | |
19 | g.12649932G>T | CA9226149 | MAN2B1 | c.2248C>A (p.Arg750=) c.2245C>A (p.Arg749=) n.2838C>A c.2251C>A (p.Arg751=) c.1147C>A (p.Arg383=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12649933G>A | CA9226150 | MAN2B1 | c.2247C>T (p.Gly749=) c.2244C>T (p.Gly748=) n.2837C>T c.2250C>T (p.Gly750=) c.1146C>T (p.Gly382=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12649933G>C | CA505770858 | MAN2B1 | c.2247C>G (p.Gly749=) c.2244C>G (p.Gly748=) n.2837C>G c.2250C>G (p.Gly750=) c.1146C>G (p.Gly382=) | |
19 | g.12649933G= | CA2323500005 | MAN2B1 | c.2247C= (p.Gly749=) c.2244C= (p.Gly748=) n.2837C= c.2250C= (p.Gly750=) c.1146C= (p.Gly382=) | |
19 | g.12649933G>T | CA505770859 | MAN2B1 | c.2247C>A (p.Gly749=) c.2244C>A (p.Gly748=) n.2837C>A c.2250C>A (p.Gly750=) c.1146C>A (p.Gly382=) | |
19 | g.12649934C>A | CA404242573 | MAN2B1 | c.2246G>T (p.Gly749Val) c.2243G>T (p.Gly748Val) n.2836G>T c.2249G>T (p.Gly750Val) c.1145G>T (p.Gly382Val) | |
19 | g.12649934C= | CA2323500006 | MAN2B1 | c.2246G= (p.Gly749=) c.2243G= (p.Gly748=) n.2836G= c.2249G= (p.Gly750=) c.1145G= (p.Gly382=) | |
19 | g.12649934C>G | CA404242576 | MAN2B1 | c.2246G>C (p.Gly749Ala) c.2243G>C (p.Gly748Ala) n.2836G>C c.2249G>C (p.Gly750Ala) c.1145G>C (p.Gly382Ala) | |
19 | g.12649934C>T | CA404242578 | MAN2B1 | c.2246G>A (p.Gly749Asp) c.2243G>A (p.Gly748Asp) n.2836G>A c.2249G>A (p.Gly750Asp) c.1145G>A (p.Gly382Asp) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.12649935C>A | CA404242587 | MAN2B1 | c.2245G>T (p.Gly749Cys) c.2242G>T (p.Gly748Cys) n.2835G>T c.2248G>T (p.Gly750Cys) c.1144G>T (p.Gly382Cys) | |
19 | g.12649935C>G | CA404242596 | MAN2B1 | c.2245G>C (p.Gly749Arg) c.2242G>C (p.Gly748Arg) n.2835G>C c.2248G>C (p.Gly750Arg) c.1144G>C (p.Gly382Arg) | gnomAD v4 |
19 | g.12649935C>T | CA404242595 | MAN2B1 | c.2245G>A (p.Gly749Ser) c.2242G>A (p.Gly748Ser) n.2835G>A c.2248G>A (p.Gly750Ser) c.1144G>A (p.Gly382Ser) | |
19 | g.12649936A>C | CA404242599 | MAN2B1 | c.2244T>G (p.Asn748Lys) c.2241T>G (p.Asn747Lys) n.2834T>G c.2247T>G (p.Asn749Lys) c.1143T>G (p.Asn381Lys) | |
19 | g.12649936A>G | CA505770863 | MAN2B1 | c.2244T>C (p.Asn748=) c.2241T>C (p.Asn747=) n.2834T>C c.2247T>C (p.Asn749=) c.1143T>C (p.Asn381=) | gnomAD v4 |
19 | g.12649936A>T | CA404242601 | MAN2B1 | c.2244T>A (p.Asn748Lys) c.2241T>A (p.Asn747Lys) n.2834T>A c.2247T>A (p.Asn749Lys) c.1143T>A (p.Asn381Lys) | |
19 | g.12649937T>A | CA404242605 | MAN2B1 | c.2243A>T (p.Asn748Ile) c.2240A>T (p.Asn747Ile) n.2833A>T c.2246A>T (p.Asn749Ile) c.1142A>T (p.Asn381Ile) | |
19 | g.12649937T>C | CA404242606 | MAN2B1 | c.2243A>G (p.Asn748Ser) c.2240A>G (p.Asn747Ser) n.2833A>G c.2246A>G (p.Asn749Ser) c.1142A>G (p.Asn381Ser) | |
19 | g.12649937T>G | CA404242608 | MAN2B1 | c.2243A>C (p.Asn748Thr) c.2240A>C (p.Asn747Thr) n.2833A>C c.2246A>C (p.Asn749Thr) c.1142A>C (p.Asn381Thr) | gnomAD v4 |
19 | g.12649938T>A | CA404242611 | MAN2B1 | c.2242A>T (p.Asn748Tyr) c.2239A>T (p.Asn747Tyr) n.2832A>T c.2245A>T (p.Asn749Tyr) c.1141A>T (p.Asn381Tyr) | |
19 | g.12649938T>C | CA404242614 | MAN2B1 | c.2242A>G (p.Asn748Asp) c.2239A>G (p.Asn747Asp) n.2832A>G c.2245A>G (p.Asn749Asp) c.1141A>G (p.Asn381Asp) | |
19 | g.12649938T>G | CA404242615 | MAN2B1 | c.2242A>C (p.Asn748His) c.2239A>C (p.Asn747His) n.2832A>C c.2245A>C (p.Asn749His) c.1141A>C (p.Asn381His) | |
19 | g.12649939G>A | CA505770867 | MAN2B1 | c.2241C>T (p.Ser747=) c.2238C>T (p.Ser746=) n.2831C>T c.2244C>T (p.Ser748=) c.1140C>T (p.Ser380=) | |
19 | g.12649939G>C | CA404242617 | MAN2B1 | c.2241C>G (p.Ser747Arg) c.2238C>G (p.Ser746Arg) n.2831C>G c.2244C>G (p.Ser748Arg) c.1140C>G (p.Ser380Arg) | dbSNP |
19 | g.12649939G= | CA2323500008 | MAN2B1 | c.2241C= (p.Ser747=) c.2238C= (p.Ser746=) n.2831C= c.2244C= (p.Ser748=) c.1140C= (p.Ser380=) | |
19 | g.12649939G>T | CA404242619 | MAN2B1 | c.2241C>A (p.Ser747Arg) c.2238C>A (p.Ser746Arg) n.2831C>A c.2244C>A (p.Ser748Arg) c.1140C>A (p.Ser380Arg) | |
19 | g.12649939_12649943delinsGCTGT | CA2323500007 | MAN2B1 | c.2237_2241delinsACAGC (p.Asp746=) c.2234_2238delinsACAGC (p.Asp745=) n.2827_2831delinsACAGC c.2240_2244delinsACAGC (p.Asp747=) c.1136_1140delinsACAGC (p.Asp379=) | |
19 | g.12649940C>A | CA404242623 | MAN2B1 | c.2240G>T (p.Ser747Ile) c.2237G>T (p.Ser746Ile) n.2830G>T c.2243G>T (p.Ser748Ile) c.1139G>T (p.Ser380Ile) | gnomAD v4 COSMIC |
19 | g.12649940C= | CA2323500009 | MAN2B1 | c.2240G= (p.Ser747=) c.2237G= (p.Ser746=) n.2830G= c.2243G= (p.Ser748=) c.1139G= (p.Ser380=) | |
19 | g.12649940C>G | CA404242625 | MAN2B1 | c.2240G>C (p.Ser747Thr) c.2237G>C (p.Ser746Thr) n.2830G>C c.2243G>C (p.Ser748Thr) c.1139G>C (p.Ser380Thr) | |
19 | g.12649940C>T | CA404242621 | MAN2B1 | c.2240G>A (p.Ser747Asn) c.2237G>A (p.Ser746Asn) n.2830G>A c.2243G>A (p.Ser748Asn) c.1139G>A (p.Ser380Asn) | dbSNP |
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.12649941T>A | CA404242627 | MAN2B1 | c.2239A>T (p.Ser747Cys) c.2236A>T (p.Ser746Cys) n.2829A>T c.2242A>T (p.Ser748Cys) c.1138A>T (p.Ser380Cys) | |
19 | g.12649941T>C | CA404242630 | MAN2B1 | c.2239A>G (p.Ser747Gly) c.2236A>G (p.Ser746Gly) n.2829A>G c.2242A>G (p.Ser748Gly) c.1138A>G (p.Ser380Gly) | dbSNP gnomAD v4 |
19 | g.12649941T>G | CA404242633 | MAN2B1 | c.2239A>C (p.Ser747Arg) c.2236A>C (p.Ser746Arg) n.2829A>C c.2242A>C (p.Ser748Arg) c.1138A>C (p.Ser380Arg) | |
19 | g.12649941T= | CA2323500010 | MAN2B1 | c.2239A= (p.Ser747=) c.2236A= (p.Ser746=) n.2829A= c.2242A= (p.Ser748=) c.1138A= (p.Ser380=) | |
19 | g.12649942G>A | CA505770869 | MAN2B1 | c.2238C>T (p.Asp746=) c.2235C>T (p.Asp745=) n.2828C>T c.2241C>T (p.Asp747=) c.1137C>T (p.Asp379=) | |
19 | g.12649942G>C | CA404242636 | MAN2B1 | c.2238C>G (p.Asp746Glu) c.2235C>G (p.Asp745Glu) n.2828C>G c.2241C>G (p.Asp747Glu) c.1137C>G (p.Asp379Glu) | |
19 | g.12649942G>T | CA404242637 | MAN2B1 | c.2238C>A (p.Asp746Glu) c.2235C>A (p.Asp745Glu) n.2828C>A c.2241C>A (p.Asp747Glu) c.1137C>A (p.Asp379Glu) | |
19 | g.12649943T>A | CA404242640 | MAN2B1 | c.2237A>T (p.Asp746Val) c.2234A>T (p.Asp745Val) n.2827A>T c.2240A>T (p.Asp747Val) c.1136A>T (p.Asp379Val) | |
19 | g.12649943T>C | CA404242642 | MAN2B1 | c.2237A>G (p.Asp746Gly) c.2234A>G (p.Asp745Gly) n.2827A>G c.2240A>G (p.Asp747Gly) c.1136A>G (p.Asp379Gly) | |
19 | g.12649943T>G | CA404242644 | MAN2B1 | c.2237A>C (p.Asp746Ala) c.2234A>C (p.Asp745Ala) n.2827A>C c.2240A>C (p.Asp747Ala) c.1136A>C (p.Asp379Ala) | |
19 | g.12649944C>A | CA404242647 | MAN2B1 | c.2236G>T (p.Asp746Tyr) c.2233G>T (p.Asp745Tyr) n.2826G>T c.2239G>T (p.Asp747Tyr) c.1135G>T (p.Asp379Tyr) | |
19 | g.12649944C>G | CA404242648 | MAN2B1 | c.2236G>C (p.Asp746His) c.2233G>C (p.Asp745His) n.2826G>C c.2239G>C (p.Asp747His) c.1135G>C (p.Asp379His) | |
19 | g.12649944C>T | CA404242650 | MAN2B1 | c.2236G>A (p.Asp746Asn) c.2233G>A (p.Asp745Asn) n.2826G>A c.2239G>A (p.Asp747Asn) c.1135G>A (p.Asp379Asn) | |
19 | g.12649945T>A | CA505770871 | MAN2B1 | c.2235A>T (p.Thr745=) c.2232A>T (p.Thr744=) n.2825A>T c.2238A>T (p.Thr746=) c.1134A>T (p.Thr378=) | |
19 | g.12649945T>C | CA505770872 | MAN2B1 | c.2235A>G (p.Thr745=) c.2232A>G (p.Thr744=) n.2825A>G c.2238A>G (p.Thr746=) c.1134A>G (p.Thr378=) | |
19 | g.12649945T>G | CA505770873 | MAN2B1 | c.2235A>C (p.Thr745=) c.2232A>C (p.Thr744=) n.2825A>C c.2238A>C (p.Thr746=) c.1134A>C (p.Thr378=) | |
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=) | |
19 | g.12649959C>G | CA404242732 | MAN2B1 | c.2221G>C (p.Gly741Arg) c.2218G>C (p.Gly740Arg) n.2811G>C c.2224G>C (p.Gly742Arg) c.1120G>C (p.Gly374Arg) | |
19 | g.12649959C>T | CA9226157 | MAN2B1 | c.2221G>A (p.Gly741Arg) c.2218G>A (p.Gly740Arg) n.2811G>A c.2224G>A (p.Gly742Arg) c.1120G>A (p.Gly374Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12649960C>A | CA404242737 | MAN2B1 | c.2220G>T (p.Lys740Asn) c.2217G>T (p.Lys739Asn) n.2810G>T c.2223G>T (p.Lys741Asn) c.1119G>T (p.Lys373Asn) | |
19 | g.12649960C= | CA2323500019 | MAN2B1 | c.2220G= (p.Lys740=) c.2217G= (p.Lys739=) n.2810G= c.2223G= (p.Lys741=) c.1119G= (p.Lys373=) | |
19 | g.12649960C>G | CA404242738 | MAN2B1 | c.2220G>C (p.Lys740Asn) c.2217G>C (p.Lys739Asn) n.2810G>C c.2223G>C (p.Lys741Asn) c.1119G>C (p.Lys373Asn) | gnomAD v4 |
19 | g.12649960C>T | CA505770894 | MAN2B1 | c.2220G>A (p.Lys740=) c.2217G>A (p.Lys739=) n.2810G>A c.2223G>A (p.Lys741=) c.1119G>A (p.Lys373=) | ClinVar dbSNP gnomAD v4 |
19 | g.12649961T>A | CA404242742 | MAN2B1 | c.2219A>T (p.Lys740Met) c.2216A>T (p.Lys739Met) n.2809A>T c.2222A>T (p.Lys741Met) c.1118A>T (p.Lys373Met) | |
19 | g.12649961T>C | CA404242745 | MAN2B1 | c.2219A>G (p.Lys740Arg) c.2216A>G (p.Lys739Arg) n.2809A>G c.2222A>G (p.Lys741Arg) c.1118A>G (p.Lys373Arg) | |
19 | g.12649961T>G | CA404242747 | MAN2B1 | c.2219A>C (p.Lys740Thr) c.2216A>C (p.Lys739Thr) n.2809A>C c.2222A>C (p.Lys741Thr) c.1118A>C (p.Lys373Thr) | |
19 | g.12649963del | CA2695228313 | MAN2B1 | c.2219del (p.Lys740ArgfsTer26) c.2216del (p.Lys739ArgfsTer26) n.2809del c.2222del (p.Lys741ArgfsTer26) c.1118del (p.Lys373ArgfsTer26) | |
19 | g.12649962T>A | CA404242748 | MAN2B1 | c.2218A>T (p.Lys740Ter) c.2215A>T (p.Lys739Ter) n.2808A>T c.2221A>T (p.Lys741Ter) c.1117A>T (p.Lys373Ter) | |
19 | g.12649962T>C | CA404242752 | MAN2B1 | c.2218A>G (p.Lys740Glu) c.2215A>G (p.Lys739Glu) n.2808A>G c.2221A>G (p.Lys741Glu) c.1117A>G (p.Lys373Glu) | |
19 | g.12649962T>G | CA404242754 | MAN2B1 | c.2218A>C (p.Lys740Gln) c.2215A>C (p.Lys739Gln) n.2808A>C c.2221A>C (p.Lys741Gln) c.1117A>C (p.Lys373Gln) | |
19 | g.12649963T>A | CA505770899 | MAN2B1 | c.2217A>T (p.Thr739=) c.2214A>T (p.Thr738=) n.2807A>T c.2220A>T (p.Thr740=) c.1116A>T (p.Thr372=) | |
19 | g.12649963T>C | CA505770901 | MAN2B1 | c.2217A>G (p.Thr739=) c.2214A>G (p.Thr738=) n.2807A>G c.2220A>G (p.Thr740=) c.1116A>G (p.Thr372=) | gnomAD v4 |
19 | g.12649963T>G | CA505770903 | MAN2B1 | c.2217A>C (p.Thr739=) c.2214A>C (p.Thr738=) n.2807A>C c.2220A>C (p.Thr740=) c.1116A>C (p.Thr372=) | |
19 | g.12649964G>A | CA404242756 | MAN2B1 | c.2216C>T (p.Thr739Ile) c.2213C>T (p.Thr738Ile) n.2806C>T c.2219C>T (p.Thr740Ile) c.1115C>T (p.Thr372Ile) | |
19 | g.12649964G>C | CA404242757 | MAN2B1 | c.2216C>G (p.Thr739Arg) c.2213C>G (p.Thr738Arg) n.2806C>G c.2219C>G (p.Thr740Arg) c.1115C>G (p.Thr372Arg) | |
19 | g.12649964G>T | CA404242759 | MAN2B1 | c.2216C>A (p.Thr739Lys) c.2213C>A (p.Thr738Lys) n.2806C>A c.2219C>A (p.Thr740Lys) c.1115C>A (p.Thr372Lys) | gnomAD v4 |
19 | g.12649965T>A | CA404242761 | MAN2B1 | c.2215A>T (p.Thr739Ser) c.2212A>T (p.Thr738Ser) n.2805A>T c.2218A>T (p.Thr740Ser) c.1114A>T (p.Thr372Ser) | |
19 | g.12649965T>C | CA404242762 | MAN2B1 | c.2215A>G (p.Thr739Ala) c.2212A>G (p.Thr738Ala) n.2805A>G c.2218A>G (p.Thr740Ala) c.1114A>G (p.Thr372Ala) | |
19 | g.12649965T>G | CA404242764 | MAN2B1 | c.2215A>C (p.Thr739Pro) c.2212A>C (p.Thr738Pro) n.2805A>C c.2218A>C (p.Thr740Pro) c.1114A>C (p.Thr372Pro) | |
19 | g.12649966C>A | CA404242765 | MAN2B1 | c.2214G>T (p.Glu738Asp) c.2211G>T (p.Glu737Asp) n.2804G>T c.2217G>T (p.Glu739Asp) c.1113G>T (p.Glu371Asp) | COSMIC |
19 | g.12649966C= | CA2323500020 | MAN2B1 | c.2214G= (p.Glu738=) c.2211G= (p.Glu737=) n.2804G= c.2217G= (p.Glu739=) c.1113G= (p.Glu371=) | |
19 | g.12649966C>G | CA404242766 | MAN2B1 | c.2214G>C (p.Glu738Asp) c.2211G>C (p.Glu737Asp) n.2804G>C c.2217G>C (p.Glu739Asp) c.1113G>C (p.Glu371Asp) | |
19 | g.12649966C>T | CA9226158 | MAN2B1 | c.2214G>A (p.Glu738=) c.2211G>A (p.Glu737=) n.2804G>A c.2217G>A (p.Glu739=) c.1113G>A (p.Glu371=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12649967T>A | CA404242767 | MAN2B1 | c.2213A>T (p.Glu738Val) c.2210A>T (p.Glu737Val) n.2803A>T c.2216A>T (p.Glu739Val) c.1112A>T (p.Glu371Val) | |
19 | g.12649967T>C | CA404242769 | MAN2B1 | c.2213A>G (p.Glu738Gly) c.2210A>G (p.Glu737Gly) n.2803A>G c.2216A>G (p.Glu739Gly) c.1112A>G (p.Glu371Gly) | |
19 | g.12649967T>G | CA404242772 | MAN2B1 | c.2213A>C (p.Glu738Ala) c.2210A>C (p.Glu737Ala) n.2803A>C c.2216A>C (p.Glu739Ala) c.1112A>C (p.Glu371Ala) | |
19 | g.12649967_12649968delinsTC | CA2323500021 | MAN2B1 | c.2212_2213delinsGA (p.Glu738=) c.2209_2210delinsGA (p.Glu737=) n.2802_2803delinsGA c.2215_2216delinsGA (p.Glu739=) c.1111_1112delinsGA (p.Glu371=) | |
19 | g.12649968C>A | CA404242774 | MAN2B1 | c.2212G>T (p.Glu738Ter) c.2209G>T (p.Glu737Ter) n.2802G>T c.2215G>T (p.Glu739Ter) c.1111G>T (p.Glu371Ter) | |
19 | g.12649968C>G | CA404242775 | MAN2B1 | c.2212G>C (p.Glu738Gln) c.2209G>C (p.Glu737Gln) n.2802G>C c.2215G>C (p.Glu739Gln) c.1111G>C (p.Glu371Gln) | gnomAD v4 |
19 | g.12649968C>T | CA404242777 | MAN2B1 | c.2212G>A (p.Glu738Lys) c.2209G>A (p.Glu737Lys) n.2802G>A c.2215G>A (p.Glu739Lys) c.1111G>A (p.Glu371Lys) | |
19 | g.12649969del | CA658799153 | MAN2B1 | c.2212del (p.Glu738ArgfsTer28) c.2209del (p.Glu737ArgfsTer28) n.2802del c.2215del (p.Glu739ArgfsTer28) c.1111del (p.Glu371ArgfsTer28) | ClinVar dbSNP |
19 | g.12649969C>A | CA505770912 | MAN2B1 | c.2211G>T (p.Leu737=) c.2208G>T (p.Leu736=) n.2801G>T c.2214G>T (p.Leu738=) c.1110G>T (p.Leu370=) | |
19 | g.12649969C>G | CA505770914 | MAN2B1 | c.2211G>C (p.Leu737=) c.2208G>C (p.Leu736=) n.2801G>C c.2214G>C (p.Leu738=) c.1110G>C (p.Leu370=) | |
19 | g.12649969C>T | CA505770915 | MAN2B1 | c.2211G>A (p.Leu737=) c.2208G>A (p.Leu736=) n.2801G>A c.2214G>A (p.Leu738=) c.1110G>A (p.Leu370=) | |
19 | g.12649970A>C | CA404242778 | MAN2B1 | c.2210T>G (p.Leu737Arg) c.2207T>G (p.Leu736Arg) n.2800T>G c.2213T>G (p.Leu738Arg) c.1109T>G (p.Leu370Arg) | |
19 | g.12649970A>G | CA404242779 | MAN2B1 | c.2210T>C (p.Leu737Pro) c.2207T>C (p.Leu736Pro) n.2800T>C c.2213T>C (p.Leu738Pro) c.1109T>C (p.Leu370Pro) | |
19 | g.12649970A>T | CA404242781 | MAN2B1 | c.2210T>A (p.Leu737Gln) c.2207T>A (p.Leu736Gln) n.2800T>A c.2213T>A (p.Leu738Gln) c.1109T>A (p.Leu370Gln) | gnomAD v4 |
19 | g.12649971G>A | CA505770918 | MAN2B1 | c.2209C>T (p.Leu737=) c.2206C>T (p.Leu736=) n.2799C>T c.2212C>T (p.Leu738=) c.1108C>T (p.Leu370=) | ClinVar |
19 | g.12649971G>C | CA404242783 | MAN2B1 | c.2209C>G (p.Leu737Val) c.2206C>G (p.Leu736Val) n.2799C>G c.2212C>G (p.Leu738Val) c.1108C>G (p.Leu370Val) | |
19 | g.12649971G>T | CA404242785 | MAN2B1 | c.2209C>A (p.Leu737Met) c.2206C>A (p.Leu736Met) n.2799C>A c.2212C>A (p.Leu738Met) c.1108C>A (p.Leu370Met) | |
19 | g.12649972C>A | CA505770922 | MAN2B1 | c.2208G>T (p.Pro736=) c.2205G>T (p.Pro735=) n.2798G>T c.2211G>T (p.Pro737=) c.1107G>T (p.Pro369=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.12649972C= | CA2323500022 | MAN2B1 | c.2208G= (p.Pro736=) c.2205G= (p.Pro735=) n.2798G= c.2211G= (p.Pro737=) c.1107G= (p.Pro369=) | |
19 | g.12649972C>G | CA505770923 | MAN2B1 | c.2208G>C (p.Pro736=) c.2205G>C (p.Pro735=) n.2798G>C c.2211G>C (p.Pro737=) c.1107G>C (p.Pro369=) | |
19 | g.12649972C>T | CA9226159 | MAN2B1 | c.2208G>A (p.Pro736=) c.2205G>A (p.Pro735=) n.2798G>A c.2211G>A (p.Pro737=) c.1107G>A (p.Pro369=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12649973G>A | CA404242790 | MAN2B1 | c.2207C>T (p.Pro736Leu) c.2204C>T (p.Pro735Leu) n.2797C>T c.2210C>T (p.Pro737Leu) c.1106C>T (p.Pro369Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12649973G>C | CA404242786 | MAN2B1 | c.2207C>G (p.Pro736Arg) c.2204C>G (p.Pro735Arg) n.2797C>G c.2210C>G (p.Pro737Arg) c.1106C>G (p.Pro369Arg) | dbSNP gnomAD v4 |
19 | g.12649973G= | CA2323500023 | MAN2B1 | c.2207C= (p.Pro736=) c.2204C= (p.Pro735=) n.2797C= c.2210C= (p.Pro737=) c.1106C= (p.Pro369=) | |
19 | g.12649973G>T | CA404242788 | MAN2B1 | c.2207C>A (p.Pro736Gln) c.2204C>A (p.Pro735Gln) n.2797C>A c.2210C>A (p.Pro737Gln) c.1106C>A (p.Pro369Gln) | |
19 | g.12649974G>A | CA404242792 | MAN2B1 | c.2206C>T (p.Pro736Ser) c.2203C>T (p.Pro735Ser) n.2796C>T c.2209C>T (p.Pro737Ser) c.1105C>T (p.Pro369Ser) | gnomAD v4 |
19 | g.12649974G>C | CA404242793 | MAN2B1 | c.2206C>G (p.Pro736Ala) c.2203C>G (p.Pro735Ala) n.2796C>G c.2209C>G (p.Pro737Ala) c.1105C>G (p.Pro369Ala) | |
19 | g.12649974G>T | CA404242795 | MAN2B1 | c.2206C>A (p.Pro736Thr) c.2203C>A (p.Pro735Thr) n.2796C>A c.2209C>A (p.Pro737Thr) c.1105C>A (p.Pro369Thr) | ClinVar gnomAD v4 |
19 | g.12649975T>A | CA505770929 | MAN2B1 | c.2205A>T (p.Thr735=) c.2202A>T (p.Thr734=) n.2795A>T c.2208A>T (p.Thr736=) c.1104A>T (p.Thr368=) | |
19 | g.12649975T>C | CA505770930 | MAN2B1 | c.2205A>G (p.Thr735=) c.2202A>G (p.Thr734=) n.2795A>G c.2208A>G (p.Thr736=) c.1104A>G (p.Thr368=) | |
19 | g.12649975T>G | CA505770931 | MAN2B1 | c.2205A>C (p.Thr735=) c.2202A>C (p.Thr734=) n.2795A>C c.2208A>C (p.Thr736=) c.1104A>C (p.Thr368=) | |
19 | g.12649976G>A | CA404242797 | MAN2B1 | c.2204C>T (p.Thr735Ile) c.2201C>T (p.Thr734Ile) n.2794C>T c.2207C>T (p.Thr736Ile) c.1103C>T (p.Thr368Ile) | gnomAD v4 |
19 | g.12649976G>C | CA404242799 | MAN2B1 | c.2204C>G (p.Thr735Arg) c.2201C>G (p.Thr734Arg) n.2794C>G c.2207C>G (p.Thr736Arg) c.1103C>G (p.Thr368Arg) | |
19 | g.12649976G>T | CA404242800 | MAN2B1 | c.2204C>A (p.Thr735Lys) c.2201C>A (p.Thr734Lys) n.2794C>A c.2207C>A (p.Thr736Lys) c.1103C>A (p.Thr368Lys) | |
19 | g.12649977T>A | CA404242801 | MAN2B1 | c.2203A>T (p.Thr735Ser) c.2200A>T (p.Thr734Ser) n.2793A>T c.2206A>T (p.Thr736Ser) c.1102A>T (p.Thr368Ser) | |
19 | g.12649977T>C | CA404242803 | MAN2B1 | c.2203A>G (p.Thr735Ala) c.2200A>G (p.Thr734Ala) n.2793A>G c.2206A>G (p.Thr736Ala) c.1102A>G (p.Thr368Ala) | |
19 | g.12649977T>G | CA404242805 | MAN2B1 | c.2203A>C (p.Thr735Pro) c.2200A>C (p.Thr734Pro) n.2793A>C c.2206A>C (p.Thr736Pro) c.1102A>C (p.Thr368Pro) | |
19 | g.12649978G>A | CA505770938 | MAN2B1 | c.2202C>T (p.Asp734=) c.2199C>T (p.Asp733=) n.2792C>T c.2205C>T (p.Asp735=) c.1101C>T (p.Asp367=) | ClinVar |
19 | g.12649978G>C | CA404242807 | MAN2B1 | c.2202C>G (p.Asp734Glu) c.2199C>G (p.Asp733Glu) n.2792C>G c.2205C>G (p.Asp735Glu) c.1101C>G (p.Asp367Glu) | |
19 | g.12649978G>T | CA404242808 | MAN2B1 | c.2202C>A (p.Asp734Glu) c.2199C>A (p.Asp733Glu) n.2792C>A c.2205C>A (p.Asp735Glu) c.1101C>A (p.Asp367Glu) | |
19 | g.12649979T>A | CA404242813 | MAN2B1 | c.2201A>T (p.Asp734Val) c.2198A>T (p.Asp733Val) n.2791A>T c.2204A>T (p.Asp735Val) c.1100A>T (p.Asp367Val) | |
19 | g.12649979T>C | CA404242812 | MAN2B1 | c.2201A>G (p.Asp734Gly) c.2198A>G (p.Asp733Gly) n.2791A>G c.2204A>G (p.Asp735Gly) c.1100A>G (p.Asp367Gly) | |
19 | g.12649979T>G | CA404242810 | MAN2B1 | c.2201A>C (p.Asp734Ala) c.2198A>C (p.Asp733Ala) n.2791A>C c.2204A>C (p.Asp735Ala) c.1100A>C (p.Asp367Ala) | |
19 | g.12649980C>A | CA404242815 | MAN2B1 | c.2200G>T (p.Asp734Tyr) c.2197G>T (p.Asp733Tyr) n.2790G>T c.2203G>T (p.Asp735Tyr) c.1099G>T (p.Asp367Tyr) | |
19 | g.12649980C>G | CA404242816 | MAN2B1 | c.2200G>C (p.Asp734His) c.2197G>C (p.Asp733His) n.2790G>C c.2203G>C (p.Asp735His) c.1099G>C (p.Asp367His) | |
19 | g.12649980C>T | CA404242818 | MAN2B1 | c.2200G>A (p.Asp734Asn) c.2197G>A (p.Asp733Asn) n.2790G>A c.2203G>A (p.Asp735Asn) c.1099G>A (p.Asp367Asn) | |
19 | g.12649981A>C | CA404242824 | MAN2B1 | c.2199T>G (p.Phe733Leu) c.2196T>G (p.Phe732Leu) n.2789T>G c.2202T>G (p.Phe734Leu) c.1098T>G (p.Phe366Leu) | |
19 | g.12649981A>G | CA505770942 | MAN2B1 | c.2199T>C (p.Phe733=) c.2196T>C (p.Phe732=) n.2789T>C c.2202T>C (p.Phe734=) c.1098T>C (p.Phe366=) | |
19 | g.12649981A>T | CA404242825 | MAN2B1 | c.2199T>A (p.Phe733Leu) c.2196T>A (p.Phe732Leu) n.2789T>A c.2202T>A (p.Phe734Leu) c.1098T>A (p.Phe366Leu) | |
19 | g.12649984del | CA2580096687 | MAN2B1 | c.2199del (p.Phe733LeufsTer?) c.2196del (p.Phe732LeufsTer?) n.2789del c.2202del (p.Phe734LeufsTer?) c.1098del (p.Phe366LeufsTer?) | ClinVar |
19 | g.12649982A>C | CA404242830 | MAN2B1 | c.2198T>G (p.Phe733Cys) c.2195T>G (p.Phe732Cys) n.2788T>G c.2201T>G (p.Phe734Cys) c.1097T>G (p.Phe366Cys) | |
19 | g.12649982A>G | CA404242829 | MAN2B1 | c.2198T>C (p.Phe733Ser) c.2195T>C (p.Phe732Ser) n.2788T>C c.2201T>C (p.Phe734Ser) c.1097T>C (p.Phe366Ser) | |
19 | g.12649982A>T | CA404242827 | MAN2B1 | c.2198T>A (p.Phe733Tyr) c.2195T>A (p.Phe732Tyr) n.2788T>A c.2201T>A (p.Phe734Tyr) c.1097T>A (p.Phe366Tyr) | |
19 | g.12649983A>C | CA404242832 | MAN2B1 | c.2197T>G (p.Phe733Val) c.2194T>G (p.Phe732Val) n.2787T>G c.2200T>G (p.Phe734Val) c.1096T>G (p.Phe366Val) | |
19 | g.12649983A>G | CA404242834 | MAN2B1 | c.2197T>C (p.Phe733Leu) c.2194T>C (p.Phe732Leu) n.2787T>C c.2200T>C (p.Phe734Leu) c.1096T>C (p.Phe366Leu) | |
19 | g.12649983A>T | CA404242835 | MAN2B1 | c.2197T>A (p.Phe733Ile) c.2194T>A (p.Phe732Ile) n.2787T>A c.2200T>A (p.Phe734Ile) c.1096T>A (p.Phe366Ile) | |
19 | g.12649984A>C | CA505770945 | MAN2B1 | c.2196T>G (p.Arg732=) c.2193T>G (p.Arg731=) n.2786T>G c.2199T>G (p.Arg733=) c.1095T>G (p.Arg365=) | |
19 | g.12649984A>G | CA505770947 | MAN2B1 | c.2196T>C (p.Arg732=) c.2193T>C (p.Arg731=) n.2786T>C c.2199T>C (p.Arg733=) c.1095T>C (p.Arg365=) | |
19 | g.12649984A>T | CA505770949 | MAN2B1 | c.2196T>A (p.Arg732=) c.2193T>A (p.Arg731=) n.2786T>A c.2199T>A (p.Arg733=) c.1095T>A (p.Arg365=) | |
19 | g.12649985C>A | CA404242837 | MAN2B1 | c.2195G>T (p.Arg732Leu) c.2192G>T (p.Arg731Leu) n.2785G>T c.2198G>T (p.Arg733Leu) c.1094G>T (p.Arg365Leu) | gnomAD v4 COSMIC |
19 | g.12649985C= | CA2323500024 | MAN2B1 | c.2195G= (p.Arg732=) c.2192G= (p.Arg731=) n.2785G= c.2198G= (p.Arg733=) c.1094G= (p.Arg365=) | |
19 | g.12649985C>G | CA404242838 | MAN2B1 | c.2195G>C (p.Arg732Pro) c.2192G>C (p.Arg731Pro) n.2785G>C c.2198G>C (p.Arg733Pro) c.1094G>C (p.Arg365Pro) | |
19 | g.12649985C>T | CA9226160 | MAN2B1 | c.2195G>A (p.Arg732His) c.2192G>A (p.Arg731His) n.2785G>A c.2198G>A (p.Arg733His) c.1094G>A (p.Arg365His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.12649986G>A | CA9226161 | MAN2B1 | c.2194C>T (p.Arg732Cys) c.2191C>T (p.Arg731Cys) n.2784C>T c.2197C>T (p.Arg733Cys) c.1093C>T (p.Arg365Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12649986G>C | CA404242841 | MAN2B1 | c.2194C>G (p.Arg732Gly) c.2191C>G (p.Arg731Gly) n.2784C>G c.2197C>G (p.Arg733Gly) c.1093C>G (p.Arg365Gly) | |
19 | g.12649986G= | CA2323500025 | MAN2B1 | c.2194C= (p.Arg732=) c.2191C= (p.Arg731=) n.2784C= c.2197C= (p.Arg733=) c.1093C= (p.Arg365=) | |
19 | g.12649986G>T | CA404242842 | MAN2B1 | c.2194C>A (p.Arg732Ser) c.2191C>A (p.Arg731Ser) n.2784C>A c.2197C>A (p.Arg733Ser) c.1093C>A (p.Arg365Ser) | COSMIC |
19 | g.12649987G>A | CA505770952 | MAN2B1 | c.2193C>T (p.Ser731=) c.2190C>T (p.Ser730=) n.2783C>T c.2196C>T (p.Ser732=) c.1092C>T (p.Ser364=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.12649987G>C | CA404242846 | MAN2B1 | c.2193C>G (p.Ser731Arg) c.2190C>G (p.Ser730Arg) n.2783C>G c.2196C>G (p.Ser732Arg) c.1092C>G (p.Ser364Arg) | |
19 | g.12649987G= | CA2323500026 | MAN2B1 | c.2193C= (p.Ser731=) c.2190C= (p.Ser730=) n.2783C= c.2196C= (p.Ser732=) c.1092C= (p.Ser364=) | |
19 | g.12649987G>T | CA404242852 | MAN2B1 | c.2193C>A (p.Ser731Arg) c.2190C>A (p.Ser730Arg) n.2783C>A c.2196C>A (p.Ser732Arg) c.1092C>A (p.Ser364Arg) | |
19 | g.12649988C>A | CA404242854 | MAN2B1 | c.2192G>T (p.Ser731Ile) c.2189G>T (p.Ser730Ile) n.2782G>T c.2195G>T (p.Ser732Ile) c.1091G>T (p.Ser364Ile) | |
19 | g.12649988C>G | CA404242861 | MAN2B1 | c.2192G>C (p.Ser731Thr) c.2189G>C (p.Ser730Thr) n.2782G>C c.2195G>C (p.Ser732Thr) c.1091G>C (p.Ser364Thr) | |
19 | g.12649988C>T | CA404242862 | MAN2B1 | c.2192G>A (p.Ser731Asn) c.2189G>A (p.Ser730Asn) n.2782G>A c.2195G>A (p.Ser732Asn) c.1091G>A (p.Ser364Asn) | |
19 | g.12649989T>A | CA404242865 | MAN2B1 | c.2191A>T (p.Ser731Cys) c.2188A>T (p.Ser730Cys) n.2781A>T c.2194A>T (p.Ser732Cys) c.1090A>T (p.Ser364Cys) | |
19 | g.12649989T>C | CA404242867 | MAN2B1 | c.2191A>G (p.Ser731Gly) c.2188A>G (p.Ser730Gly) n.2781A>G c.2194A>G (p.Ser732Gly) c.1090A>G (p.Ser364Gly) | |
19 | g.12649989T>G | CA404242868 | MAN2B1 | c.2191A>C (p.Ser731Arg) c.2188A>C (p.Ser730Arg) n.2781A>C c.2194A>C (p.Ser732Arg) c.1090A>C (p.Ser364Arg) | gnomAD v4 |
19 | g.12649990G>A | CA9226162 | MAN2B1 | c.2190C>T (p.Ile730=) c.2187C>T (p.Ile729=) n.2780C>T c.2193C>T (p.Ile731=) c.1089C>T (p.Ile363=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12649990G>C | CA404242870 | MAN2B1 | c.2190C>G (p.Ile730Met) c.2187C>G (p.Ile729Met) n.2780C>G c.2193C>G (p.Ile731Met) c.1089C>G (p.Ile363Met) | |
19 | g.12649990G= | CA2323500027 | MAN2B1 | c.2190C= (p.Ile730=) c.2187C= (p.Ile729=) n.2780C= c.2193C= (p.Ile731=) c.1089C= (p.Ile363=) | |
19 | g.12649990G>T | CA505770959 | MAN2B1 | c.2190C>A (p.Ile730=) c.2187C>A (p.Ile729=) n.2780C>A c.2193C>A (p.Ile731=) c.1089C>A (p.Ile363=) | |
19 | g.12649991A>C | CA404242873 | MAN2B1 | c.2189T>G (p.Ile730Ser) c.2186T>G (p.Ile729Ser) n.2779T>G c.2192T>G (p.Ile731Ser) c.1088T>G (p.Ile363Ser) | |
19 | g.12649991A>G | CA404242877 | MAN2B1 | c.2189T>C (p.Ile730Thr) c.2186T>C (p.Ile729Thr) n.2779T>C c.2192T>C (p.Ile731Thr) c.1088T>C (p.Ile363Thr) | |
19 | g.12649991A>T | CA404242878 | MAN2B1 | c.2189T>A (p.Ile730Asn) c.2186T>A (p.Ile729Asn) n.2779T>A c.2192T>A (p.Ile731Asn) c.1088T>A (p.Ile363Asn) | |
19 | g.12649992T>A | CA404242885 | MAN2B1 | c.2188A>T (p.Ile730Phe) c.2185A>T (p.Ile729Phe) n.2778A>T c.2191A>T (p.Ile731Phe) c.1087A>T (p.Ile363Phe) | |
19 | g.12649992T>C | CA404242881 | MAN2B1 | c.2188A>G (p.Ile730Val) c.2185A>G (p.Ile729Val) n.2778A>G c.2191A>G (p.Ile731Val) c.1087A>G (p.Ile363Val) | |
19 | g.12649992T>G | CA404242883 | MAN2B1 | c.2188A>C (p.Ile730Leu) c.2185A>C (p.Ile729Leu) n.2778A>C c.2191A>C (p.Ile731Leu) c.1087A>C (p.Ile363Leu) | gnomAD v4 |
19 | g.12649993G>A | CA505770967 | MAN2B1 | c.2187C>T (p.Val729=) c.2184C>T (p.Val728=) n.2777C>T c.2190C>T (p.Val730=) c.1086C>T (p.Val362=) | |
19 | g.12649993G>C | CA505770963 | MAN2B1 | c.2187C>G (p.Val729=) c.2184C>G (p.Val728=) n.2777C>G c.2190C>G (p.Val730=) c.1086C>G (p.Val362=) | |
19 | g.12649993G>T | CA505770965 | MAN2B1 | c.2187C>A (p.Val729=) c.2184C>A (p.Val728=) n.2777C>A c.2190C>A (p.Val730=) c.1086C>A (p.Val362=) | |
19 | g.12649994A>C | CA404242887 | MAN2B1 | c.2186T>G (p.Val729Gly) c.2183T>G (p.Val728Gly) n.2776T>G c.2189T>G (p.Val730Gly) c.1085T>G (p.Val362Gly) | |
19 | g.12649994A>G | CA404242890 | MAN2B1 | c.2186T>C (p.Val729Ala) c.2183T>C (p.Val728Ala) n.2776T>C c.2189T>C (p.Val730Ala) c.1085T>C (p.Val362Ala) | |
19 | g.12649994A>T | CA404242892 | MAN2B1 | c.2186T>A (p.Val729Asp) c.2183T>A (p.Val728Asp) n.2776T>A c.2189T>A (p.Val730Asp) c.1085T>A (p.Val362Asp) | |
19 | g.12649995C>A | CA404242896 | MAN2B1 | c.2185G>T (p.Val729Phe) c.2182G>T (p.Val728Phe) n.2775G>T c.2188G>T (p.Val730Phe) c.1084G>T (p.Val362Phe) | |
19 | g.12649995C>G | CA404242898 | MAN2B1 | c.2185G>C (p.Val729Leu) c.2182G>C (p.Val728Leu) n.2775G>C c.2188G>C (p.Val730Leu) c.1084G>C (p.Val362Leu) | |
19 | g.12649995C>T | CA404242900 | MAN2B1 | c.2185G>A (p.Val729Ile) c.2182G>A (p.Val728Ile) n.2775G>A c.2188G>A (p.Val730Ile) c.1084G>A (p.Val362Ile) | gnomAD v4 |
19 | g.12649996C>A | CA404242905 | MAN2B1 | c.2184G>T (p.Glu728Asp) c.2181G>T (p.Glu727Asp) n.2774G>T c.2187G>T (p.Glu729Asp) c.1083G>T (p.Glu361Asp) | |
19 | g.12649996C= | CA2323500028 | MAN2B1 | c.2184G= (p.Glu728=) c.2181G= (p.Glu727=) n.2774G= c.2187G= (p.Glu729=) c.1083G= (p.Glu361=) | |
19 | g.12649996C>G | CA404242902 | MAN2B1 | c.2184G>C (p.Glu728Asp) c.2181G>C (p.Glu727Asp) n.2774G>C c.2187G>C (p.Glu729Asp) c.1083G>C (p.Glu361Asp) | gnomAD v4 |
19 | g.12649996C>T | CA505770974 | MAN2B1 | c.2184G>A (p.Glu728=) c.2181G>A (p.Glu727=) n.2774G>A c.2187G>A (p.Glu729=) c.1083G>A (p.Glu361=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12649997T>A | CA404242907 | MAN2B1 | c.2183A>T (p.Glu728Val) c.2180A>T (p.Glu727Val) n.2773A>T c.2186A>T (p.Glu729Val) c.1082A>T (p.Glu361Val) | |
19 | g.12649997T>C | CA404242909 | MAN2B1 | c.2183A>G (p.Glu728Gly) c.2180A>G (p.Glu727Gly) n.2773A>G c.2186A>G (p.Glu729Gly) c.1082A>G (p.Glu361Gly) | |
19 | g.12649997T>G | CA404242910 | MAN2B1 | c.2183A>C (p.Glu728Ala) c.2180A>C (p.Glu727Ala) n.2773A>C c.2186A>C (p.Glu729Ala) c.1082A>C (p.Glu361Ala) | |
19 | g.12649998C>A | CA404242914 | MAN2B1 | c.2182G>T (p.Glu728Ter) c.2179G>T (p.Glu727Ter) n.2772G>T c.2185G>T (p.Glu729Ter) c.1081G>T (p.Glu361Ter) | |
19 | g.12649998C= | CA2323500029 | MAN2B1 | c.2182G= (p.Glu728=) c.2179G= (p.Glu727=) n.2772G= c.2185G= (p.Glu729=) c.1081G= (p.Glu361=) | |
19 | g.12649998C>G | CA404242916 | MAN2B1 | c.2182G>C (p.Glu728Gln) c.2179G>C (p.Glu727Gln) n.2772G>C c.2185G>C (p.Glu729Gln) c.1081G>C (p.Glu361Gln) | |
19 | g.12649998C>T | CA9226163 | MAN2B1 | c.2182G>A (p.Glu728Lys) c.2179G>A (p.Glu727Lys) n.2772G>A c.2185G>A (p.Glu729Lys) c.1081G>A (p.Glu361Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12649999C>A | CA404242925 | MAN2B1 | c.2181G>T (p.Lys727Asn) c.2178G>T (p.Lys726Asn) n.2771G>T c.2184G>T (p.Lys728Asn) c.1080G>T (p.Lys360Asn) | |
19 | g.12649999C= | CA2323500030 | MAN2B1 | c.2181G= (p.Lys727=) c.2178G= (p.Lys726=) n.2771G= c.2184G= (p.Lys728=) c.1080G= (p.Lys360=) | |
19 | g.12649999C>G | CA305462760 | MAN2B1 | c.2181G>C (p.Lys727Asn) c.2178G>C (p.Lys726Asn) n.2771G>C c.2184G>C (p.Lys728Asn) c.1080G>C (p.Lys360Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.12649999C>T | CA9226164 | MAN2B1 | c.2181G>A (p.Lys727=) c.2178G>A (p.Lys726=) n.2771G>A c.2184G>A (p.Lys728=) c.1080G>A (p.Lys360=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12650000T>A | CA404242927 | MAN2B1 | c.2180A>T (p.Lys727Met) c.2177A>T (p.Lys726Met) n.2770A>T c.2183A>T (p.Lys728Met) c.1079A>T (p.Lys360Met) | |
19 | g.12650000T>C | CA9226165 | MAN2B1 | c.2180A>G (p.Lys727Arg) c.2177A>G (p.Lys726Arg) n.2770A>G c.2183A>G (p.Lys728Arg) c.1079A>G (p.Lys360Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12650000T>G | CA404242933 | MAN2B1 | c.2180A>C (p.Lys727Thr) c.2177A>C (p.Lys726Thr) n.2770A>C c.2183A>C (p.Lys728Thr) c.1079A>C (p.Lys360Thr) | |
19 | g.12650000T= | CA2323500031 | MAN2B1 | c.2180A= (p.Lys727=) c.2177A= (p.Lys726=) n.2770A= c.2183A= (p.Lys728=) c.1079A= (p.Lys360=) | |
19 | g.12650001T>A | CA404242935 | MAN2B1 | c.2179A>T (p.Lys727Ter) c.2176A>T (p.Lys726Ter) n.2769A>T c.2182A>T (p.Lys728Ter) c.1078A>T (p.Lys360Ter) | |
19 | g.12650001T>C | CA404242938 | MAN2B1 | c.2179A>G (p.Lys727Glu) c.2176A>G (p.Lys726Glu) n.2769A>G c.2182A>G (p.Lys728Glu) c.1078A>G (p.Lys360Glu) | |
19 | g.12650001T>G | CA404242940 | MAN2B1 | c.2179A>C (p.Lys727Gln) c.2176A>C (p.Lys726Gln) n.2769A>C c.2182A>C (p.Lys728Gln) c.1078A>C (p.Lys360Gln) | |
19 | g.12650002C>A | CA505770985 | MAN2B1 | c.2178G>T (p.Gly726=) c.2175G>T (p.Gly725=) n.2768G>T c.2181G>T (p.Gly727=) c.1077G>T (p.Gly359=) | |
19 | g.12650002C= | CA2323500032 | MAN2B1 | c.2178G= (p.Gly726=) c.2175G= (p.Gly725=) n.2768G= c.2181G= (p.Gly727=) c.1077G= (p.Gly359=) | |
19 | g.12650002C>G | CA505770986 | MAN2B1 | c.2178G>C (p.Gly726=) c.2175G>C (p.Gly725=) n.2768G>C c.2181G>C (p.Gly727=) c.1077G>C (p.Gly359=) | |
19 | g.12650002C>T | CA505770987 | MAN2B1 | c.2178G>A (p.Gly726=) c.2175G>A (p.Gly725=) n.2768G>A c.2181G>A (p.Gly727=) c.1077G>A (p.Gly359=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.12650003C>A | CA404242941 | MAN2B1 | c.2177G>T (p.Gly726Val) c.2174G>T (p.Gly725Val) n.2767G>T c.2180G>T (p.Gly727Val) c.1076G>T (p.Gly359Val) | |
19 | g.12650003C= | CA2323500033 | MAN2B1 | c.2177G= (p.Gly726=) c.2174G= (p.Gly725=) n.2767G= c.2180G= (p.Gly727=) c.1076G= (p.Gly359=) | |
19 | g.12650003C>G | CA404242942 | MAN2B1 | c.2177G>C (p.Gly726Ala) c.2174G>C (p.Gly725Ala) n.2767G>C c.2180G>C (p.Gly727Ala) c.1076G>C (p.Gly359Ala) | |
19 | g.12650003C>T | CA9226166 | MAN2B1 | c.2177G>A (p.Gly726Glu) c.2174G>A (p.Gly725Glu) n.2767G>A c.2180G>A (p.Gly727Glu) c.1076G>A (p.Gly359Glu) | dbSNP ExAC gnomAD v2 |
19 | g.12650004C>A | CA404242944 | MAN2B1 | c.2176G>T (p.Gly726Trp) c.2173G>T (p.Gly725Trp) n.2766G>T c.2179G>T (p.Gly727Trp) c.1075G>T (p.Gly359Trp) | |
19 | g.12650004C>G | CA404242945 | MAN2B1 | c.2176G>C (p.Gly726Arg) c.2173G>C (p.Gly725Arg) n.2766G>C c.2179G>C (p.Gly727Arg) c.1075G>C (p.Gly359Arg) | |
19 | g.12650004C>T | CA404242947 | MAN2B1 | c.2176G>A (p.Gly726Arg) c.2173G>A (p.Gly725Arg) n.2766G>A c.2179G>A (p.Gly727Arg) c.1075G>A (p.Gly359Arg) | ClinVar |
19 | g.12650005C>A | CA404242950 | MAN2B1 | c.2175G>T (p.Trp725Cys) c.2172G>T (p.Trp724Cys) n.2765G>T c.2178G>T (p.Trp726Cys) c.1074G>T (p.Trp358Cys) | |
19 | g.12650005C= | CA2323500034 | MAN2B1 | c.2175G= (p.Trp725=) c.2172G= (p.Trp724=) n.2765G= c.2178G= (p.Trp726=) c.1074G= (p.Trp358=) | |
19 | g.12650005C>G | CA404242955 | MAN2B1 | c.2175G>C (p.Trp725Cys) c.2172G>C (p.Trp724Cys) n.2765G>C c.2178G>C (p.Trp726Cys) c.1074G>C (p.Trp358Cys) | |
19 | g.12650005C>T | CA404242952 | MAN2B1 | c.2175G>A (p.Trp725Ter) c.2172G>A (p.Trp724Ter) n.2765G>A c.2178G>A (p.Trp726Ter) c.1074G>A (p.Trp358Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.12650006C>A | CA404242957 | MAN2B1 | c.2174G>T (p.Trp725Leu) c.2171G>T (p.Trp724Leu) n.2764G>T c.2177G>T (p.Trp726Leu) c.1073G>T (p.Trp358Leu) | |
19 | g.12650006C= | CA2323500035 | MAN2B1 | c.2174G= (p.Trp725=) c.2171G= (p.Trp724=) n.2764G= c.2177G= (p.Trp726=) c.1073G= (p.Trp358=) | |
19 | g.12650006C>G | CA404242963 | MAN2B1 | c.2174G>C (p.Trp725Ser) c.2171G>C (p.Trp724Ser) n.2764G>C c.2177G>C (p.Trp726Ser) c.1073G>C (p.Trp358Ser) | |
19 | g.12650006C>T | CA404242960 | MAN2B1 | c.2174G>A (p.Trp725Ter) c.2171G>A (p.Trp724Ter) n.2764G>A c.2177G>A (p.Trp726Ter) c.1073G>A (p.Trp358Ter) | ClinVar dbSNP |
19 | g.12650007A>C | CA404242966 | MAN2B1 | c.2173T>G (p.Trp725Gly) c.2170T>G (p.Trp724Gly) n.2763T>G c.2176T>G (p.Trp726Gly) c.1072T>G (p.Trp358Gly) | |
19 | g.12650007A>G | CA404242968 | MAN2B1 | c.2173T>C (p.Trp725Arg) c.2170T>C (p.Trp724Arg) n.2763T>C c.2176T>C (p.Trp726Arg) c.1072T>C (p.Trp358Arg) | |
19 | g.12650007A>T | CA404242969 | MAN2B1 | c.2173T>A (p.Trp725Arg) c.2170T>A (p.Trp724Arg) n.2763T>A c.2176T>A (p.Trp726Arg) c.1072T>A (p.Trp358Arg) | |
19 | g.12650008G>A | CA505770994 | MAN2B1 | c.2172C>T (p.Thr724=) c.2169C>T (p.Thr723=) n.2762C>T c.2175C>T (p.Thr725=) c.1071C>T (p.Thr357=) | gnomAD v4 |
19 | g.12650008G>C | CA505770995 | MAN2B1 | c.2172C>G (p.Thr724=) c.2169C>G (p.Thr723=) n.2762C>G c.2175C>G (p.Thr725=) c.1071C>G (p.Thr357=) | gnomAD v4 |
19 | g.12650008G>T | CA505770996 | MAN2B1 | c.2172C>A (p.Thr724=) c.2169C>A (p.Thr723=) n.2762C>A c.2175C>A (p.Thr725=) c.1071C>A (p.Thr357=) | |
19 | g.12650009G>A | CA9226167 | MAN2B1 | c.2171C>T (p.Thr724Ile) c.2168C>T (p.Thr723Ile) n.2761C>T c.2174C>T (p.Thr725Ile) c.1070C>T (p.Thr357Ile) | dbSNP ExAC gnomAD v3 gnomAD v4 |
19 | g.12650009G>C | CA404242974 | MAN2B1 | c.2171C>G (p.Thr724Ser) c.2168C>G (p.Thr723Ser) n.2761C>G c.2174C>G (p.Thr725Ser) c.1070C>G (p.Thr357Ser) | |
19 | g.12650009G= | CA2323500036 | MAN2B1 | c.2171C= (p.Thr724=) c.2168C= (p.Thr723=) n.2761C= c.2174C= (p.Thr725=) c.1070C= (p.Thr357=) | |
19 | g.12650009G>T | CA404242976 | MAN2B1 | c.2171C>A (p.Thr724Asn) c.2168C>A (p.Thr723Asn) n.2761C>A c.2174C>A (p.Thr725Asn) c.1070C>A (p.Thr357Asn) | |
19 | g.12650010T>A | CA404242979 | MAN2B1 | c.2170A>T (p.Thr724Ser) c.2167A>T (p.Thr723Ser) n.2760A>T c.2173A>T (p.Thr725Ser) c.1069A>T (p.Thr357Ser) | |
19 | g.12650010T>C | CA404242981 | MAN2B1 | c.2170A>G (p.Thr724Ala) c.2167A>G (p.Thr723Ala) n.2760A>G c.2173A>G (p.Thr725Ala) c.1069A>G (p.Thr357Ala) | |
19 | g.12650010T>G | CA404242982 | MAN2B1 | c.2170A>C (p.Thr724Pro) c.2167A>C (p.Thr723Pro) n.2760A>C c.2173A>C (p.Thr725Pro) c.1069A>C (p.Thr357Pro) | |
19 | g.12650011G>A | CA505770998 | MAN2B1 | c.2169C>T (p.Asp723=) c.2166C>T (p.Asp722=) n.2759C>T c.2172C>T (p.Asp724=) c.1068C>T (p.Asp356=) | ClinVar dbSNP |
19 | g.12650011G>C | CA404242983 | MAN2B1 | c.2169C>G (p.Asp723Glu) c.2166C>G (p.Asp722Glu) n.2759C>G c.2172C>G (p.Asp724Glu) c.1068C>G (p.Asp356Glu) | |
19 | g.12650011G>T | CA404242984 | MAN2B1 | c.2169C>A (p.Asp723Glu) c.2166C>A (p.Asp722Glu) n.2759C>A c.2172C>A (p.Asp724Glu) c.1068C>A (p.Asp356Glu) | |
19 | g.12650012T>A | CA404242989 | MAN2B1 | c.2168A>T (p.Asp723Val) c.2165A>T (p.Asp722Val) n.2758A>T c.2171A>T (p.Asp724Val) c.1067A>T (p.Asp356Val) | |
19 | g.12650012T>C | CA404242987 | MAN2B1 | c.2168A>G (p.Asp723Gly) c.2165A>G (p.Asp722Gly) n.2758A>G c.2171A>G (p.Asp724Gly) c.1067A>G (p.Asp356Gly) | |
19 | g.12650012T>G | CA404242985 | MAN2B1 | c.2168A>C (p.Asp723Ala) c.2165A>C (p.Asp722Ala) n.2758A>C c.2171A>C (p.Asp724Ala) c.1067A>C (p.Asp356Ala) | |
19 | g.12650013C>A | CA404242991 | MAN2B1 | c.2167G>T (p.Asp723Tyr) c.2164G>T (p.Asp722Tyr) n.2757G>T c.2170G>T (p.Asp724Tyr) c.1066G>T (p.Asp356Tyr) | |
19 | g.12650013C= | CA2323500037 | MAN2B1 | c.2167G= (p.Asp723=) c.2164G= (p.Asp722=) n.2757G= c.2170G= (p.Asp724=) c.1066G= (p.Asp356=) | |
19 | g.12650013C>G | CA404242994 | MAN2B1 | c.2167G>C (p.Asp723His) c.2164G>C (p.Asp722His) n.2757G>C c.2170G>C (p.Asp724His) c.1066G>C (p.Asp356His) | |
19 | g.12650013C>T | CA9226168 | MAN2B1 | c.2167G>A (p.Asp723Asn) c.2164G>A (p.Asp722Asn) n.2757G>A c.2170G>A (p.Asp724Asn) c.1066G>A (p.Asp356Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12650014G>A | CA9226169 | MAN2B1 | c.2166C>T (p.Gly722=) c.2163C>T (p.Gly721=) n.2756C>T c.2169C>T (p.Gly723=) c.1065C>T (p.Gly355=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12650014G>C | CA505771004 | MAN2B1 | c.2166C>G (p.Gly722=) c.2163C>G (p.Gly721=) n.2756C>G c.2169C>G (p.Gly723=) c.1065C>G (p.Gly355=) | |
19 | g.12650014G= | CA2323500038 | MAN2B1 | c.2166C= (p.Gly722=) c.2163C= (p.Gly721=) n.2756C= c.2169C= (p.Gly723=) c.1065C= (p.Gly355=) | |
19 | g.12650014G>T | CA505771003 | MAN2B1 | c.2166C>A (p.Gly722=) c.2163C>A (p.Gly721=) n.2756C>A c.2169C>A (p.Gly723=) c.1065C>A (p.Gly355=) | |
19 | g.12650015C>A | CA404243001 | MAN2B1 | c.2166-1G>T (n.2166-1G>T) c.2163-1G>T (n.2163-1G>T) n.2756-1G>T c.2169-1G>T (n.2169-1G>T) c.1065-1G>T (n.1065-1G>T) | |
19 | g.12650015C>G | CA404243002 | MAN2B1 | c.2166-1G>C (n.2166-1G>C) c.2163-1G>C (n.2163-1G>C) n.2756-1G>C c.2169-1G>C (n.2169-1G>C) c.1065-1G>C (n.1065-1G>C) | |
19 | g.12650015C>T | CA404243005 | MAN2B1 | c.2166-1G>A (n.2166-1G>A) c.2163-1G>A (n.2163-1G>A) n.2756-1G>A c.2169-1G>A (n.2169-1G>A) c.1065-1G>A (n.1065-1G>A) | |
19 | g.12650015_12650024del | CA913015544 | MAN2B1 | c.2166-10_2166-1del (n.2166-10_2166-1del) c.2163-10_2163-1del (n.2163-10_2163-1del) n.2756-10_2756-1del c.2169-10_2169-1del (n.2169-10_2169-1del) c.1065-10_1065-1del (n.1065-10_1065-1del) | |
19 | g.12650015_12650024delinsCTGTACCCAA | CA2323500039 | MAN2B1 | c.2166-10_2166-1delinsTTGGGTACAG (n.2166-10_2166-1delinsTTGGGTACAG) c.2163-10_2163-1delinsTTGGGTACAG (n.2163-10_2163-1delinsTTGGGTACAG) n.2756-10_2756-1delinsTTGGGTACAG c.2169-10_2169-1delinsTTGGGTACAG (n.2169-10_2169-1delinsTTGGGTACAG) c.1065-10_1065-1delinsTTGGGTACAG (n.1065-10_1065-1delinsTTGGGTACAG) | |
19 | g.12650016T>A | CA404243011 | MAN2B1 | c.2166-2A>T (n.2166-2A>T) c.2163-2A>T (n.2163-2A>T) n.2756-2A>T c.2169-2A>T (n.2169-2A>T) c.1065-2A>T (n.1065-2A>T) | |
19 | g.12650016T>C | CA404243012 | MAN2B1 | c.2166-2A>G (n.2166-2A>G) c.2163-2A>G (n.2163-2A>G) n.2756-2A>G c.2169-2A>G (n.2169-2A>G) c.1065-2A>G (n.1065-2A>G) | ClinVar dbSNP |
19 | g.12650016T>G | CA404243013 | MAN2B1 | c.2166-2A>C (n.2166-2A>C) c.2163-2A>C (n.2163-2A>C) n.2756-2A>C c.2169-2A>C (n.2169-2A>C) c.1065-2A>C (n.1065-2A>C) | |
19 | g.12650018_12650026del | CA658824629 | MAN2B1 | c.2166-10_2166-2del (n.2166-10_2166-2del) c.2163-10_2163-2del (n.2163-10_2163-2del) n.2756-10_2756-2del c.2169-10_2169-2del (n.2169-10_2169-2del) c.1065-10_1065-2del (n.1065-10_1065-2del) | ClinVar dbSNP |
19 | g.12650018T>C | CA2323500041 | MAN2B1 | c.2166-4A>G (n.2166-4A>G) c.2163-4A>G (n.2163-4A>G) n.2756-4A>G c.2169-4A>G (n.2169-4A>G) c.1065-4A>G (n.1065-4A>G) | dbSNP |
19 | g.12650018T= | CA2323500040 | MAN2B1 | c.2166-4A= (n.2166-4A=) c.2163-4A= (n.2163-4A=) n.2756-4A= c.2169-4A= (n.2169-4A=) c.1065-4A= (n.1065-4A=) |