Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.12649168_12649170del | CA2525780685 | MAN2B1 | c.2407_2409del (p.Ser803del) c.2404_2406del (p.Ser802del) n.2997_2999del c.2410_2412del (p.Ser804del) c.1306_1308del (p.Ser436del) | |
19 | g.12649166G>A | CA505624437 | MAN2B1 | c.2406C>T (p.Ser802=) c.2403C>T (p.Ser801=) n.2996C>T c.2409C>T (p.Ser803=) c.1305C>T (p.Ser435=) | |
19 | g.12649166G>C | CA404241059 | MAN2B1 | c.2406C>G (p.Ser802Arg) c.2403C>G (p.Ser801Arg) n.2996C>G c.2409C>G (p.Ser803Arg) c.1305C>G (p.Ser435Arg) | |
19 | g.12649166G>T | CA404241056 | MAN2B1 | c.2406C>A (p.Ser802Arg) c.2403C>A (p.Ser801Arg) n.2996C>A c.2409C>A (p.Ser803Arg) c.1305C>A (p.Ser435Arg) | gnomAD v4 |
19 | g.12649167C>A | CA404241068 | MAN2B1 | c.2405G>T (p.Ser802Ile) c.2402G>T (p.Ser801Ile) n.2995G>T c.2408G>T (p.Ser803Ile) c.1304G>T (p.Ser435Ile) | |
19 | g.12649167C>G | CA404241071 | MAN2B1 | c.2405G>C (p.Ser802Thr) c.2402G>C (p.Ser801Thr) n.2995G>C c.2408G>C (p.Ser803Thr) c.1304G>C (p.Ser435Thr) | |
19 | g.12649167C>T | CA404241073 | MAN2B1 | c.2405G>A (p.Ser802Asn) c.2402G>A (p.Ser801Asn) n.2995G>A c.2408G>A (p.Ser803Asn) c.1304G>A (p.Ser435Asn) | |
19 | g.12649168T>A | CA404241076 | MAN2B1 | c.2404A>T (p.Ser802Cys) c.2401A>T (p.Ser801Cys) n.2994A>T c.2407A>T (p.Ser803Cys) c.1303A>T (p.Ser435Cys) | |
19 | g.12649168T>C | CA9226042 | MAN2B1 | c.2404A>G (p.Ser802Gly) c.2401A>G (p.Ser801Gly) n.2994A>G c.2407A>G (p.Ser803Gly) c.1303A>G (p.Ser435Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12649168T>G | CA404241080 | MAN2B1 | c.2404A>C (p.Ser802Arg) c.2401A>C (p.Ser801Arg) n.2994A>C c.2407A>C (p.Ser803Arg) c.1303A>C (p.Ser435Arg) | gnomAD v4 |
19 | g.12649168T= | CA2323499561 | MAN2B1 | c.2404A= (p.Ser802=) c.2401A= (p.Ser801=) n.2994A= c.2407A= (p.Ser803=) c.1303A= (p.Ser435=) | |
19 | g.12649169G>A | CA505624438 | MAN2B1 | c.2403C>T (p.Gly801=) c.2400C>T (p.Gly800=) n.2993C>T c.2406C>T (p.Gly802=) c.1302C>T (p.Gly434=) | gnomAD v4 |
19 | g.12649169G>C | CA505624439 | MAN2B1 | c.2403C>G (p.Gly801=) c.2400C>G (p.Gly800=) n.2993C>G c.2406C>G (p.Gly802=) c.1302C>G (p.Gly434=) | |
19 | g.12649169G>T | CA505624440 | MAN2B1 | c.2403C>A (p.Gly801=) c.2400C>A (p.Gly800=) n.2993C>A c.2406C>A (p.Gly802=) c.1302C>A (p.Gly434=) | |
19 | g.12649169_12649170delinsGC | CA2323499562 | MAN2B1 | c.2402_2403delinsGC (p.Gly801=) c.2399_2400delinsGC (p.Gly800=) n.2992_2993delinsGC c.2405_2406delinsGC (p.Gly802=) c.1301_1302delinsGC (p.Gly434=) | |
19 | g.12649170C>A | CA404241087 | MAN2B1 | c.2402G>T (p.Gly801Val) c.2399G>T (p.Gly800Val) n.2992G>T c.2405G>T (p.Gly802Val) c.1301G>T (p.Gly434Val) | gnomAD v4 |
19 | g.12649170C= | CA2323499563 | MAN2B1 | c.2402G= (p.Gly801=) c.2399G= (p.Gly800=) n.2992G= c.2405G= (p.Gly802=) c.1301G= (p.Gly434=) | |
19 | g.12649170C>G | CA404241088 | MAN2B1 | c.2402G>C (p.Gly801Ala) c.2399G>C (p.Gly800Ala) n.2992G>C c.2405G>C (p.Gly802Ala) c.1301G>C (p.Gly434Ala) | |
19 | g.12649170C>T | CA350919 | MAN2B1 | c.2402G>A (p.Gly801Asp) c.2399G>A (p.Gly800Asp) n.2992G>A c.2405G>A (p.Gly802Asp) c.1301G>A (p.Gly434Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.12649175dup | CA275096 | MAN2B1 | c.2402dup (p.Ser802GlnfsTer?) c.2399dup (p.Ser801GlnfsTer?) n.2992dup c.2405dup (p.Ser803GlnfsTer?) c.1301dup (p.Ser435GlnfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
19 | g.12649175del | CA631832610 | MAN2B1 | c.2402del (p.Gly801AlafsTer4) c.2399del (p.Gly800AlafsTer4) n.2992del c.2405del (p.Gly802AlafsTer4) c.1301del (p.Gly434AlafsTer4) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.12649171C>A | CA9226043 | MAN2B1 | c.2401G>T (p.Gly801Cys) c.2398G>T (p.Gly800Cys) n.2991G>T c.2404G>T (p.Gly802Cys) c.1300G>T (p.Gly434Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12649171C= | CA2323499564 | MAN2B1 | c.2401G= (p.Gly801=) c.2398G= (p.Gly800=) n.2991G= c.2404G= (p.Gly802=) c.1300G= (p.Gly434=) | |
19 | g.12649171C>G | CA404241095 | MAN2B1 | c.2401G>C (p.Gly801Arg) c.2398G>C (p.Gly800Arg) n.2991G>C c.2404G>C (p.Gly802Arg) c.1300G>C (p.Gly434Arg) | |
19 | g.12649171C>T | CA9226044 | MAN2B1 | c.2401G>A (p.Gly801Ser) c.2398G>A (p.Gly800Ser) n.2991G>A c.2404G>A (p.Gly802Ser) c.1300G>A (p.Gly434Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12649172C>A | CA505624443 | MAN2B1 | c.2400G>T (p.Gly800=) c.2397G>T (p.Gly799=) n.2990G>T c.2403G>T (p.Gly801=) c.1299G>T (p.Gly433=) | |
19 | g.12649172C>G | CA505624441 | MAN2B1 | c.2400G>C (p.Gly800=) c.2397G>C (p.Gly799=) n.2990G>C c.2403G>C (p.Gly801=) c.1299G>C (p.Gly433=) | |
19 | g.12649172C>T | CA505624442 | MAN2B1 | c.2400G>A (p.Gly800=) c.2397G>A (p.Gly799=) n.2990G>A c.2403G>A (p.Gly801=) c.1299G>A (p.Gly433=) | |
19 | g.12649173C>A | CA404241104 | MAN2B1 | c.2399G>T (p.Gly800Val) c.2396G>T (p.Gly799Val) n.2989G>T c.2402G>T (p.Gly801Val) c.1298G>T (p.Gly433Val) | gnomAD v4 |
19 | g.12649173C= | CA2323499565 | MAN2B1 | c.2399G= (p.Gly800=) c.2396G= (p.Gly799=) n.2989G= c.2402G= (p.Gly801=) c.1298G= (p.Gly433=) | |
19 | g.12649173C>G | CA404241099 | MAN2B1 | c.2399G>C (p.Gly800Ala) c.2396G>C (p.Gly799Ala) n.2989G>C c.2402G>C (p.Gly801Ala) c.1298G>C (p.Gly433Ala) | |
19 | g.12649173C>T | CA404241101 | MAN2B1 | c.2399G>A (p.Gly800Glu) c.2396G>A (p.Gly799Glu) n.2989G>A c.2402G>A (p.Gly801Glu) c.1298G>A (p.Gly433Glu) | dbSNP |
19 | g.12649174C>A | CA351030 | MAN2B1 | c.2398G>T (p.Gly800Trp) c.2395G>T (p.Gly799Trp) n.2988G>T c.2401G>T (p.Gly801Trp) c.1297G>T (p.Gly433Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.12649174C= | CA2323499566 | MAN2B1 | c.2398G= (p.Gly800=) c.2395G= (p.Gly799=) n.2988G= c.2401G= (p.Gly801=) c.1297G= (p.Gly433=) | |
19 | g.12649174C>G | CA350963 | MAN2B1 | c.2398G>C (p.Gly800Arg) c.2395G>C (p.Gly799Arg) n.2988G>C c.2401G>C (p.Gly801Arg) c.1297G>C (p.Gly433Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.12649174C>T | CA221083 | MAN2B1 | c.2398G>A (p.Gly800Arg) c.2395G>A (p.Gly799Arg) n.2988G>A c.2401G>A (p.Gly801Arg) c.1297G>A (p.Gly433Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12649175C>A | CA404241114 | MAN2B1 | c.2397G>T (p.Gln799His) c.2394G>T (p.Gln798His) n.2987G>T c.2400G>T (p.Gln800His) c.1296G>T (p.Gln432His) | dbSNP gnomAD v4 |
19 | g.12649175C= | CA2323499568 | MAN2B1 | c.2397G= (p.Gln799=) c.2394G= (p.Gln798=) n.2987G= c.2400G= (p.Gln800=) c.1296G= (p.Gln432=) | |
19 | g.12649175C>G | CA404241121 | MAN2B1 | c.2397G>C (p.Gln799His) c.2394G>C (p.Gln798His) n.2987G>C c.2400G>C (p.Gln800His) c.1296G>C (p.Gln432His) | |
19 | g.12649175C>T | CA505624444 | MAN2B1 | c.2397G>A (p.Gln799=) c.2394G>A (p.Gln798=) n.2987G>A c.2400G>A (p.Gln800=) c.1296G>A (p.Gln432=) | ClinVar |
19 | g.12649175_12649176delinsCT | CA2323499567 | MAN2B1 | c.2396_2397delinsAG (p.Gln799=) c.2393_2394delinsAG (p.Gln798=) n.2986_2987delinsAG c.2399_2400delinsAG (p.Gln800=) c.1295_1296delinsAG (p.Gln432=) | |
19 | g.12649176del | CA783385337 | MAN2B1 | c.2396del (p.Gln799ArgfsTer6) c.2393del (p.Gln798ArgfsTer6) n.2986del c.2399del (p.Gln800ArgfsTer6) c.1295del (p.Gln432ArgfsTer6) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.12649176T>A | CA404241123 | MAN2B1 | c.2396A>T (p.Gln799Leu) c.2393A>T (p.Gln798Leu) n.2986A>T c.2399A>T (p.Gln800Leu) c.1295A>T (p.Gln432Leu) | |
19 | g.12649176T>C | CA404241126 | MAN2B1 | c.2396A>G (p.Gln799Arg) c.2393A>G (p.Gln798Arg) n.2986A>G c.2399A>G (p.Gln800Arg) c.1295A>G (p.Gln432Arg) | |
19 | g.12649176T>G | CA404241128 | MAN2B1 | c.2396A>C (p.Gln799Pro) c.2393A>C (p.Gln798Pro) n.2986A>C c.2399A>C (p.Gln800Pro) c.1295A>C (p.Gln432Pro) | |
19 | g.12649177G>A | CA404241130 | MAN2B1 | c.2395C>T (p.Gln799Ter) c.2392C>T (p.Gln798Ter) n.2985C>T c.2398C>T (p.Gln800Ter) c.1294C>T (p.Gln432Ter) | |
19 | g.12649177G>C | CA404241133 | MAN2B1 | c.2395C>G (p.Gln799Glu) c.2392C>G (p.Gln798Glu) n.2985C>G c.2398C>G (p.Gln800Glu) c.1294C>G (p.Gln432Glu) | |
19 | g.12649177G>T | CA404241136 | MAN2B1 | c.2395C>A (p.Gln799Lys) c.2392C>A (p.Gln798Lys) n.2985C>A c.2398C>A (p.Gln800Lys) c.1294C>A (p.Gln432Lys) | |
19 | g.12649178G>A | CA505624445 | MAN2B1 | c.2394C>T (p.Ser798=) c.2391C>T (p.Ser797=) n.2984C>T c.2397C>T (p.Ser799=) c.1293C>T (p.Ser431=) | gnomAD v4 |
19 | g.12649178G>C | CA9226045 | MAN2B1 | c.2394C>G (p.Ser798=) c.2391C>G (p.Ser797=) n.2984C>G c.2397C>G (p.Ser799=) c.1293C>G (p.Ser431=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12649178G= | CA2323499569 | MAN2B1 | c.2394C= (p.Ser798=) c.2391C= (p.Ser797=) n.2984C= c.2397C= (p.Ser799=) c.1293C= (p.Ser431=) | |
19 | g.12649178G>T | CA505624446 | MAN2B1 | c.2394C>A (p.Ser798=) c.2391C>A (p.Ser797=) n.2984C>A c.2397C>A (p.Ser799=) c.1293C>A (p.Ser431=) | |
19 | g.12649179G>A | CA404241149 | MAN2B1 | c.2393C>T (p.Ser798Phe) c.2390C>T (p.Ser797Phe) n.2983C>T c.2396C>T (p.Ser799Phe) c.1292C>T (p.Ser431Phe) | gnomAD v4 |
19 | g.12649179G>C | CA404241152 | MAN2B1 | c.2393C>G (p.Ser798Cys) c.2390C>G (p.Ser797Cys) n.2983C>G c.2396C>G (p.Ser799Cys) c.1292C>G (p.Ser431Cys) | |
19 | g.12649179G>T | CA404241142 | MAN2B1 | c.2393C>A (p.Ser798Tyr) c.2390C>A (p.Ser797Tyr) n.2983C>A c.2396C>A (p.Ser799Tyr) c.1292C>A (p.Ser431Tyr) | |
19 | g.12649180A>C | CA404241160 | MAN2B1 | c.2392T>G (p.Ser798Ala) c.2389T>G (p.Ser797Ala) n.2982T>G c.2395T>G (p.Ser799Ala) c.1291T>G (p.Ser431Ala) | |
19 | g.12649180A>G | CA404241156 | MAN2B1 | c.2392T>C (p.Ser798Pro) c.2389T>C (p.Ser797Pro) n.2982T>C c.2395T>C (p.Ser799Pro) c.1291T>C (p.Ser431Pro) | |
19 | g.12649180A>T | CA404241158 | MAN2B1 | c.2392T>A (p.Ser798Thr) c.2389T>A (p.Ser797Thr) n.2982T>A c.2395T>A (p.Ser799Thr) c.1291T>A (p.Ser431Thr) | |
19 | g.12649181G>A | CA9226046 | MAN2B1 | c.2391C>T (p.Arg797=) c.2388C>T (p.Arg796=) n.2981C>T c.2394C>T (p.Arg798=) c.1290C>T (p.Arg430=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.12649181G>C | CA505624447 | MAN2B1 | c.2391C>G (p.Arg797=) c.2388C>G (p.Arg796=) n.2981C>G c.2394C>G (p.Arg798=) c.1290C>G (p.Arg430=) | |
19 | g.12649181G= | CA2323499570 | MAN2B1 | c.2391C= (p.Arg797=) c.2388C= (p.Arg796=) n.2981C= c.2394C= (p.Arg798=) c.1290C= (p.Arg430=) | |
19 | g.12649181G>T | CA505624448 | MAN2B1 | c.2391C>A (p.Arg797=) c.2388C>A (p.Arg796=) n.2981C>A c.2394C>A (p.Arg798=) c.1290C>A (p.Arg430=) | |
19 | g.12649182C>A | CA404241165 | MAN2B1 | c.2390G>T (p.Arg797Leu) c.2387G>T (p.Arg796Leu) n.2980G>T c.2393G>T (p.Arg798Leu) c.1289G>T (p.Arg430Leu) | ClinVar dbSNP |
19 | g.12649182C= | CA2323499571 | MAN2B1 | c.2390G= (p.Arg797=) c.2387G= (p.Arg796=) n.2980G= c.2393G= (p.Arg798=) c.1289G= (p.Arg430=) | |
19 | g.12649182C>G | CA404241168 | MAN2B1 | c.2390G>C (p.Arg797Pro) c.2387G>C (p.Arg796Pro) n.2980G>C c.2393G>C (p.Arg798Pro) c.1289G>C (p.Arg430Pro) | |
19 | g.12649182C>T | CA305461842 | MAN2B1 | c.2390G>A (p.Arg797His) c.2387G>A (p.Arg796His) n.2980G>A c.2393G>A (p.Arg798His) c.1289G>A (p.Arg430His) | ClinVar dbSNP gnomAD v4 |
19 | g.12649183G>A | CA9226047 | MAN2B1 | c.2389C>T (p.Arg797Cys) c.2386C>T (p.Arg796Cys) n.2979C>T c.2392C>T (p.Arg798Cys) c.1288C>T (p.Arg430Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12649183G>C | CA404241176 | MAN2B1 | c.2389C>G (p.Arg797Gly) c.2386C>G (p.Arg796Gly) n.2979C>G c.2392C>G (p.Arg798Gly) c.1288C>G (p.Arg430Gly) | gnomAD v4 |
19 | g.12649183G= | CA2323499572 | MAN2B1 | c.2389C= (p.Arg797=) c.2386C= (p.Arg796=) n.2979C= c.2392C= (p.Arg798=) c.1288C= (p.Arg430=) | |
19 | g.12649183G>T | CA404241177 | MAN2B1 | c.2389C>A (p.Arg797Ser) c.2386C>A (p.Arg796Ser) n.2979C>A c.2392C>A (p.Arg798Ser) c.1288C>A (p.Arg430Ser) | dbSNP |
19 | g.12649184G>A | CA505624449 | MAN2B1 | c.2388C>T (p.Asp796=) c.2385C>T (p.Asp795=) n.2978C>T c.2391C>T (p.Asp797=) c.1287C>T (p.Asp429=) | ClinVar dbSNP gnomAD v4 |
19 | g.12649184G>C | CA404241186 | MAN2B1 | c.2388C>G (p.Asp796Glu) c.2385C>G (p.Asp795Glu) n.2978C>G c.2391C>G (p.Asp797Glu) c.1287C>G (p.Asp429Glu) | |
19 | g.12649184G>T | CA404241189 | MAN2B1 | c.2388C>A (p.Asp796Glu) c.2385C>A (p.Asp795Glu) n.2978C>A c.2391C>A (p.Asp797Glu) c.1287C>A (p.Asp429Glu) | |
19 | g.12649185T>A | CA404241198 | MAN2B1 | c.2387A>T (p.Asp796Val) c.2384A>T (p.Asp795Val) n.2977A>T c.2390A>T (p.Asp797Val) c.1286A>T (p.Asp429Val) | |
19 | g.12649185T>C | CA404241195 | MAN2B1 | c.2387A>G (p.Asp796Gly) c.2384A>G (p.Asp795Gly) n.2977A>G c.2390A>G (p.Asp797Gly) c.1286A>G (p.Asp429Gly) | |
19 | g.12649185T>G | CA404241192 | MAN2B1 | c.2387A>C (p.Asp796Ala) c.2384A>C (p.Asp795Ala) n.2977A>C c.2390A>C (p.Asp797Ala) c.1286A>C (p.Asp429Ala) | |
19 | g.12649186C>A | CA404241201 | MAN2B1 | c.2386G>T (p.Asp796Tyr) c.2383G>T (p.Asp795Tyr) n.2976G>T c.2389G>T (p.Asp797Tyr) c.1285G>T (p.Asp429Tyr) | gnomAD v4 |
19 | g.12649186C>G | CA404241204 | MAN2B1 | c.2386G>C (p.Asp796His) c.2383G>C (p.Asp795His) n.2976G>C c.2389G>C (p.Asp797His) c.1285G>C (p.Asp429His) | |
19 | g.12649186C>T | CA404241207 | MAN2B1 | c.2386G>A (p.Asp796Asn) c.2383G>A (p.Asp795Asn) n.2976G>A c.2389G>A (p.Asp797Asn) c.1285G>A (p.Asp429Asn) | gnomAD v4 |
19 | g.12649187A>C | CA505624450 | MAN2B1 | c.2385T>G (p.Thr795=) c.2382T>G (p.Thr794=) n.2975T>G c.2388T>G (p.Thr796=) c.1284T>G (p.Thr428=) | |
19 | g.12649187A>G | CA505624451 | MAN2B1 | c.2385T>C (p.Thr795=) c.2382T>C (p.Thr794=) n.2975T>C c.2388T>C (p.Thr796=) c.1284T>C (p.Thr428=) | |
19 | g.12649187A>T | CA505624452 | MAN2B1 | c.2385T>A (p.Thr795=) c.2382T>A (p.Thr794=) n.2975T>A c.2388T>A (p.Thr796=) c.1284T>A (p.Thr428=) | |
19 | g.12649188G>A | CA404241208 | MAN2B1 | c.2384C>T (p.Thr795Ile) c.2381C>T (p.Thr794Ile) n.2974C>T c.2387C>T (p.Thr796Ile) c.1283C>T (p.Thr428Ile) | |
19 | g.12649188G>C | CA9226048 | MAN2B1 | c.2384C>G (p.Thr795Ser) c.2381C>G (p.Thr794Ser) n.2974C>G c.2387C>G (p.Thr796Ser) c.1283C>G (p.Thr428Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12649188G= | CA2323499573 | MAN2B1 | c.2384C= (p.Thr795=) c.2381C= (p.Thr794=) n.2974C= c.2387C= (p.Thr796=) c.1283C= (p.Thr428=) | |
19 | g.12649188G>T | CA404241209 | MAN2B1 | c.2384C>A (p.Thr795Asn) c.2381C>A (p.Thr794Asn) n.2974C>A c.2387C>A (p.Thr796Asn) c.1283C>A (p.Thr428Asn) | |
19 | g.12649189T>A | CA404241210 | MAN2B1 | c.2383A>T (p.Thr795Ser) c.2380A>T (p.Thr794Ser) n.2973A>T c.2386A>T (p.Thr796Ser) c.1282A>T (p.Thr428Ser) | |
19 | g.12649189T>C | CA404241213 | MAN2B1 | c.2383A>G (p.Thr795Ala) c.2380A>G (p.Thr794Ala) n.2973A>G c.2386A>G (p.Thr796Ala) c.1282A>G (p.Thr428Ala) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.12649189T>G | CA9226049 | MAN2B1 | c.2383A>C (p.Thr795Pro) c.2380A>C (p.Thr794Pro) n.2973A>C c.2386A>C (p.Thr796Pro) c.1282A>C (p.Thr428Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12649189T= | CA2323499574 | MAN2B1 | c.2383A= (p.Thr795=) c.2380A= (p.Thr794=) n.2973A= c.2386A= (p.Thr796=) c.1282A= (p.Thr428=) | |
19 | g.12649190C>A | CA505624453 | MAN2B1 | c.2382G>T (p.Leu794=) c.2379G>T (p.Leu793=) n.2972G>T c.2385G>T (p.Leu795=) c.1281G>T (p.Leu427=) | |
19 | g.12649190C>G | CA505624454 | MAN2B1 | c.2382G>C (p.Leu794=) c.2379G>C (p.Leu793=) n.2972G>C c.2385G>C (p.Leu795=) c.1281G>C (p.Leu427=) | |
19 | g.12649190C>T | CA505624455 | MAN2B1 | c.2382G>A (p.Leu794=) c.2379G>A (p.Leu793=) n.2972G>A c.2385G>A (p.Leu795=) c.1281G>A (p.Leu427=) | ClinVar |
19 | g.12649191A>C | CA404241221 | MAN2B1 | c.2381T>G (p.Leu794Arg) c.2378T>G (p.Leu793Arg) n.2971T>G c.2384T>G (p.Leu795Arg) c.1280T>G (p.Leu427Arg) | |
19 | g.12649191A>G | CA404241223 | MAN2B1 | c.2381T>C (p.Leu794Pro) c.2378T>C (p.Leu793Pro) n.2971T>C c.2384T>C (p.Leu795Pro) c.1280T>C (p.Leu427Pro) | |
19 | g.12649191A>T | CA404241225 | MAN2B1 | c.2381T>A (p.Leu794Gln) c.2378T>A (p.Leu793Gln) n.2971T>A c.2384T>A (p.Leu795Gln) c.1280T>A (p.Leu427Gln) | |
19 | g.12649192G>A | CA9226050 | MAN2B1 | c.2380C>T (p.Leu794=) c.2377C>T (p.Leu793=) n.2970C>T c.2383C>T (p.Leu795=) c.1279C>T (p.Leu427=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12649192G>C | CA404241231 | MAN2B1 | c.2380C>G (p.Leu794Val) c.2377C>G (p.Leu793Val) n.2970C>G c.2383C>G (p.Leu795Val) c.1279C>G (p.Leu427Val) | |
19 | g.12649192G= | CA2323499575 | MAN2B1 | c.2380C= (p.Leu794=) c.2377C= (p.Leu793=) n.2970C= c.2383C= (p.Leu795=) c.1279C= (p.Leu427=) | |
19 | g.12649192G>T | CA404241228 | MAN2B1 | c.2380C>A (p.Leu794Met) c.2377C>A (p.Leu793Met) n.2970C>A c.2383C>A (p.Leu795Met) c.1279C>A (p.Leu427Met) | |
19 | g.12649193C>A | CA505624458 | MAN2B1 | c.2379G>T (p.Val793=) c.2376G>T (p.Val792=) n.2969G>T c.2382G>T (p.Val794=) c.1278G>T (p.Val426=) | |
19 | g.12649193C>G | CA505624457 | MAN2B1 | c.2379G>C (p.Val793=) c.2376G>C (p.Val792=) n.2969G>C c.2382G>C (p.Val794=) c.1278G>C (p.Val426=) | |
19 | g.12649193C>T | CA505624456 | MAN2B1 | c.2379G>A (p.Val793=) c.2376G>A (p.Val792=) n.2969G>A c.2382G>A (p.Val794=) c.1278G>A (p.Val426=) | |
19 | g.12649194A>C | CA404241234 | MAN2B1 | c.2378T>G (p.Val793Gly) c.2375T>G (p.Val792Gly) n.2968T>G c.2381T>G (p.Val794Gly) c.1277T>G (p.Val426Gly) | |
19 | g.12649194A>G | CA404241236 | MAN2B1 | c.2378T>C (p.Val793Ala) c.2375T>C (p.Val792Ala) n.2968T>C c.2381T>C (p.Val794Ala) c.1277T>C (p.Val426Ala) | |
19 | g.12649194A>T | CA404241238 | MAN2B1 | c.2378T>A (p.Val793Glu) c.2375T>A (p.Val792Glu) n.2968T>A c.2381T>A (p.Val794Glu) c.1277T>A (p.Val426Glu) | |
19 | g.12649195C>A | CA404241241 | MAN2B1 | c.2377G>T (p.Val793Leu) c.2374G>T (p.Val792Leu) n.2967G>T c.2380G>T (p.Val794Leu) c.1276G>T (p.Val426Leu) | |
19 | g.12649195C= | CA2323499576 | MAN2B1 | c.2377G= (p.Val793=) c.2374G= (p.Val792=) n.2967G= c.2380G= (p.Val794=) c.1276G= (p.Val426=) | |
19 | g.12649195C>G | CA9226051 | MAN2B1 | c.2377G>C (p.Val793Leu) c.2374G>C (p.Val792Leu) n.2967G>C c.2380G>C (p.Val794Leu) c.1276G>C (p.Val426Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12649195C>T | CA404241243 | MAN2B1 | c.2377G>A (p.Val793Met) c.2374G>A (p.Val792Met) n.2967G>A c.2380G>A (p.Val794Met) c.1276G>A (p.Val426Met) | gnomAD v4 |
19 | g.12649196A>C | CA505624459 | MAN2B1 | c.2376T>G (p.Thr792=) c.2373T>G (p.Thr791=) n.2966T>G c.2379T>G (p.Thr793=) c.1275T>G (p.Thr425=) | ClinVar gnomAD v4 |
19 | g.12649196A>G | CA505624460 | MAN2B1 | c.2376T>C (p.Thr792=) c.2373T>C (p.Thr791=) n.2966T>C c.2379T>C (p.Thr793=) c.1275T>C (p.Thr425=) | |
19 | g.12649196A>T | CA505624461 | MAN2B1 | c.2376T>A (p.Thr792=) c.2373T>A (p.Thr791=) n.2966T>A c.2379T>A (p.Thr793=) c.1275T>A (p.Thr425=) | gnomAD v4 |
19 | g.12649197G>A | CA404241246 | MAN2B1 | c.2375C>T (p.Thr792Ile) c.2372C>T (p.Thr791Ile) n.2965C>T c.2378C>T (p.Thr793Ile) c.1274C>T (p.Thr425Ile) | |
19 | g.12649197G>C | CA404241247 | MAN2B1 | c.2375C>G (p.Thr792Ser) c.2372C>G (p.Thr791Ser) n.2965C>G c.2378C>G (p.Thr793Ser) c.1274C>G (p.Thr425Ser) | |
19 | g.12649197G>T | CA404241249 | MAN2B1 | c.2375C>A (p.Thr792Asn) c.2372C>A (p.Thr791Asn) n.2965C>A c.2378C>A (p.Thr793Asn) c.1274C>A (p.Thr425Asn) | |
19 | g.12649198T>A | CA9226053 | MAN2B1 | c.2374A>T (p.Thr792Ser) c.2371A>T (p.Thr791Ser) n.2964A>T c.2377A>T (p.Thr793Ser) c.1273A>T (p.Thr425Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12649198T>C | CA404241252 | MAN2B1 | c.2374A>G (p.Thr792Ala) c.2371A>G (p.Thr791Ala) n.2964A>G c.2377A>G (p.Thr793Ala) c.1273A>G (p.Thr425Ala) | |
19 | g.12649198T>G | CA404241254 | MAN2B1 | c.2374A>C (p.Thr792Pro) c.2371A>C (p.Thr791Pro) n.2964A>C c.2377A>C (p.Thr793Pro) c.1273A>C (p.Thr425Pro) | |
19 | g.12649198T= | CA2323499578 | MAN2B1 | c.2374A= (p.Thr792=) c.2371A= (p.Thr791=) n.2964A= c.2377A= (p.Thr793=) c.1273A= (p.Thr425=) | |
19 | g.12649198_12649199delinsTC | CA2323499577 | MAN2B1 | c.2373_2374delinsGA (p.Leu791=) c.2370_2371delinsGA (p.Leu790=) n.2963_2964delinsGA c.2376_2377delinsGA (p.Leu792=) c.1272_1273delinsGA (p.Leu424=) | |
19 | g.12649199del | CA9226052 | MAN2B1 | c.2373del (p.Thr792LeufsTer3) c.2370del (p.Thr791LeufsTer3) n.2963del c.2376del (p.Thr793LeufsTer3) c.1272del (p.Thr425LeufsTer3) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12649199C>A | CA505624463 | MAN2B1 | c.2373G>T (p.Leu791=) c.2370G>T (p.Leu790=) n.2963G>T c.2376G>T (p.Leu792=) c.1272G>T (p.Leu424=) | |
19 | g.12649199C>G | CA505624462 | MAN2B1 | c.2373G>C (p.Leu791=) c.2370G>C (p.Leu790=) n.2963G>C c.2376G>C (p.Leu792=) c.1272G>C (p.Leu424=) | gnomAD v4 |
19 | g.12649199C>T | CA505624464 | MAN2B1 | c.2373G>A (p.Leu791=) c.2370G>A (p.Leu790=) n.2963G>A c.2376G>A (p.Leu792=) c.1272G>A (p.Leu424=) | dbSNP gnomAD v4 |
19 | g.12649200A>C | CA404241261 | MAN2B1 | c.2372T>G (p.Leu791Arg) c.2369T>G (p.Leu790Arg) n.2962T>G c.2375T>G (p.Leu792Arg) c.1271T>G (p.Leu424Arg) | |
19 | g.12649200A>G | CA404241259 | MAN2B1 | c.2372T>C (p.Leu791Pro) c.2369T>C (p.Leu790Pro) n.2962T>C c.2375T>C (p.Leu792Pro) c.1271T>C (p.Leu424Pro) | |
19 | g.12649200A>T | CA404241257 | MAN2B1 | c.2372T>A (p.Leu791Gln) c.2369T>A (p.Leu790Gln) n.2962T>A c.2375T>A (p.Leu792Gln) c.1271T>A (p.Leu424Gln) | |
19 | g.12649201G>A | CA505624465 | MAN2B1 | c.2371C>T (p.Leu791=) c.2368C>T (p.Leu790=) n.2961C>T c.2374C>T (p.Leu792=) c.1270C>T (p.Leu424=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.12649201G>C | CA404241264 | MAN2B1 | c.2371C>G (p.Leu791Val) c.2368C>G (p.Leu790Val) n.2961C>G c.2374C>G (p.Leu792Val) c.1270C>G (p.Leu424Val) | |
19 | g.12649201G= | CA2323499579 | MAN2B1 | c.2371C= (p.Leu791=) c.2368C= (p.Leu790=) n.2961C= c.2374C= (p.Leu792=) c.1270C= (p.Leu424=) | |
19 | g.12649201G>T | CA404241267 | MAN2B1 | c.2371C>A (p.Leu791Met) c.2368C>A (p.Leu790Met) n.2961C>A c.2374C>A (p.Leu792Met) c.1270C>A (p.Leu424Met) | |
19 | g.12649202C>A | CA404241270 | MAN2B1 | c.2370G>T (p.Gln790His) c.2367G>T (p.Gln789His) n.2960G>T c.2373G>T (p.Gln791His) c.1269G>T (p.Gln423His) | |
19 | g.12649202C>G | CA404241272 | MAN2B1 | c.2370G>C (p.Gln790His) c.2367G>C (p.Gln789His) n.2960G>C c.2373G>C (p.Gln791His) c.1269G>C (p.Gln423His) | |
19 | g.12649202C>T | CA505624466 | MAN2B1 | c.2370G>A (p.Gln790=) c.2367G>A (p.Gln789=) n.2960G>A c.2373G>A (p.Gln791=) c.1269G>A (p.Gln423=) | |
19 | g.12649203T>A | CA404241275 | MAN2B1 | c.2369A>T (p.Gln790Leu) c.2366A>T (p.Gln789Leu) n.2959A>T c.2372A>T (p.Gln791Leu) c.1268A>T (p.Gln423Leu) | |
19 | g.12649203T>C | CA404241278 | MAN2B1 | c.2369A>G (p.Gln790Arg) c.2366A>G (p.Gln789Arg) n.2959A>G c.2372A>G (p.Gln791Arg) c.1268A>G (p.Gln423Arg) | |
19 | g.12649203T>G | CA404241280 | MAN2B1 | c.2369A>C (p.Gln790Pro) c.2366A>C (p.Gln789Pro) n.2959A>C c.2372A>C (p.Gln791Pro) c.1268A>C (p.Gln423Pro) | |
19 | g.12649204G>A | CA404241283 | MAN2B1 | c.2368C>T (p.Gln790Ter) c.2365C>T (p.Gln789Ter) n.2958C>T c.2371C>T (p.Gln791Ter) c.1267C>T (p.Gln423Ter) | |
19 | g.12649204G>C | CA404241284 | MAN2B1 | c.2368C>G (p.Gln790Glu) c.2365C>G (p.Gln789Glu) n.2958C>G c.2371C>G (p.Gln791Glu) c.1267C>G (p.Gln423Glu) | |
19 | g.12649204G>T | CA404241285 | MAN2B1 | c.2368C>A (p.Gln790Lys) c.2365C>A (p.Gln789Lys) n.2958C>A c.2371C>A (p.Gln791Lys) c.1267C>A (p.Gln423Lys) | |
19 | g.12649205C>A | CA404241287 | MAN2B1 | c.2367G>T (p.Met789Ile) c.2364G>T (p.Met788Ile) n.2957G>T c.2370G>T (p.Met790Ile) c.1266G>T (p.Met422Ile) | |
19 | g.12649205C>G | CA404241289 | MAN2B1 | c.2367G>C (p.Met789Ile) c.2364G>C (p.Met788Ile) n.2957G>C c.2370G>C (p.Met790Ile) c.1266G>C (p.Met422Ile) | |
19 | g.12649205C>T | CA404241291 | MAN2B1 | c.2367G>A (p.Met789Ile) c.2364G>A (p.Met788Ile) n.2957G>A c.2370G>A (p.Met790Ile) c.1266G>A (p.Met422Ile) | |
19 | g.12649206A= | CA2323499580 | MAN2B1 | c.2366T= (p.Met789=) c.2363T= (p.Met788=) n.2956T= c.2369T= (p.Met790=) c.1265T= (p.Met422=) | |
19 | g.12649206A>C | CA404241299 | MAN2B1 | c.2366T>G (p.Met789Arg) c.2363T>G (p.Met788Arg) n.2956T>G c.2369T>G (p.Met790Arg) c.1265T>G (p.Met422Arg) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.12649206A>G | CA404241296 | MAN2B1 | c.2366T>C (p.Met789Thr) c.2363T>C (p.Met788Thr) n.2956T>C c.2369T>C (p.Met790Thr) c.1265T>C (p.Met422Thr) | |
19 | g.12649206A>T | CA404241294 | MAN2B1 | c.2366T>A (p.Met789Lys) c.2363T>A (p.Met788Lys) n.2956T>A c.2369T>A (p.Met790Lys) c.1265T>A (p.Met422Lys) | |
19 | g.12649207T>A | CA404241302 | MAN2B1 | c.2365A>T (p.Met789Leu) c.2362A>T (p.Met788Leu) n.2955A>T c.2368A>T (p.Met790Leu) c.1264A>T (p.Met422Leu) | |
19 | g.12649207T>C | CA404241306 | MAN2B1 | c.2365A>G (p.Met789Val) c.2362A>G (p.Met788Val) n.2955A>G c.2368A>G (p.Met790Val) c.1264A>G (p.Met422Val) | gnomAD v4 |
19 | g.12649207T>G | CA404241304 | MAN2B1 | c.2365A>C (p.Met789Leu) c.2362A>C (p.Met788Leu) n.2955A>C c.2368A>C (p.Met790Leu) c.1264A>C (p.Met422Leu) | |
19 | g.12649208G>A | CA505624467 | MAN2B1 | c.2364C>T (p.Asn788=) c.2361C>T (p.Asn787=) n.2954C>T c.2367C>T (p.Asn789=) c.1263C>T (p.Asn421=) | gnomAD v4 |
19 | g.12649208G>C | CA404241309 | MAN2B1 | c.2364C>G (p.Asn788Lys) c.2361C>G (p.Asn787Lys) n.2954C>G c.2367C>G (p.Asn789Lys) c.1263C>G (p.Asn421Lys) | |
19 | g.12649208G= | CA2323499581 | MAN2B1 | c.2364C= (p.Asn788=) c.2361C= (p.Asn787=) n.2954C= c.2367C= (p.Asn789=) c.1263C= (p.Asn421=) | |
19 | g.12649208G>T | CA404241312 | MAN2B1 | c.2364C>A (p.Asn788Lys) c.2361C>A (p.Asn787Lys) n.2954C>A c.2367C>A (p.Asn789Lys) c.1263C>A (p.Asn421Lys) | dbSNP |
19 | g.12649209T>A | CA404241316 | MAN2B1 | c.2363A>T (p.Asn788Ile) c.2360A>T (p.Asn787Ile) n.2953A>T c.2366A>T (p.Asn789Ile) c.1262A>T (p.Asn421Ile) | |
19 | g.12649209T>C | CA404241319 | MAN2B1 | c.2363A>G (p.Asn788Ser) c.2360A>G (p.Asn787Ser) n.2953A>G c.2366A>G (p.Asn789Ser) c.1262A>G (p.Asn421Ser) | |
19 | g.12649209T>G | CA404241323 | MAN2B1 | c.2363A>C (p.Asn788Thr) c.2360A>C (p.Asn787Thr) n.2953A>C c.2366A>C (p.Asn789Thr) c.1262A>C (p.Asn421Thr) | |
19 | g.12649210T>A | CA404241459 | MAN2B1 | c.2362A>T (p.Asn788Tyr) c.2359A>T (p.Asn787Tyr) n.2952A>T c.2365A>T (p.Asn789Tyr) c.1261A>T (p.Asn421Tyr) | COSMIC |
19 | g.12649210T>C | CA404241460 | MAN2B1 | c.2362A>G (p.Asn788Asp) c.2359A>G (p.Asn787Asp) n.2952A>G c.2365A>G (p.Asn789Asp) c.1261A>G (p.Asn421Asp) | |
19 | g.12649210T>G | CA404241461 | MAN2B1 | c.2362A>C (p.Asn788His) c.2359A>C (p.Asn787His) n.2952A>C c.2365A>C (p.Asn789His) c.1261A>C (p.Asn421His) | |
19 | g.12649211T>A | CA505624468 | MAN2B1 | c.2361A>T (p.Gly787=) c.2358A>T (p.Gly786=) n.2951A>T c.2364A>T (p.Gly788=) c.1260A>T (p.Gly420=) | |
19 | g.12649211T>C | CA305461896 | MAN2B1 | c.2361A>G (p.Gly787=) c.2358A>G (p.Gly786=) n.2951A>G c.2364A>G (p.Gly788=) c.1260A>G (p.Gly420=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12649211T>G | CA505624469 | MAN2B1 | c.2361A>C (p.Gly787=) c.2358A>C (p.Gly786=) n.2951A>C c.2364A>C (p.Gly788=) c.1260A>C (p.Gly420=) | |
19 | g.12649211T= | CA2323499582 | MAN2B1 | c.2361A= (p.Gly787=) c.2358A= (p.Gly786=) n.2951A= c.2364A= (p.Gly788=) c.1260A= (p.Gly420=) | |
19 | g.12649212C>A | CA404241463 | MAN2B1 | c.2360G>T (p.Gly787Val) c.2357G>T (p.Gly786Val) n.2950G>T c.2363G>T (p.Gly788Val) c.1259G>T (p.Gly420Val) | |
19 | g.12649212C>G | CA404241464 | MAN2B1 | c.2360G>C (p.Gly787Ala) c.2357G>C (p.Gly786Ala) n.2950G>C c.2363G>C (p.Gly788Ala) c.1259G>C (p.Gly420Ala) | |
19 | g.12649212C>T | CA404241466 | MAN2B1 | c.2360G>A (p.Gly787Glu) c.2357G>A (p.Gly786Glu) n.2950G>A c.2363G>A (p.Gly788Glu) c.1259G>A (p.Gly420Glu) | |
19 | g.12649213C>A | CA404241468 | MAN2B1 | c.2359G>T (p.Gly787Ter) c.2356G>T (p.Gly786Ter) n.2949G>T c.2362G>T (p.Gly788Ter) c.1258G>T (p.Gly420Ter) | |
19 | g.12649213C= | CA2323499583 | MAN2B1 | c.2359G= (p.Gly787=) c.2356G= (p.Gly786=) n.2949G= c.2362G= (p.Gly788=) c.1258G= (p.Gly420=) | |
19 | g.12649213C>G | CA404241470 | MAN2B1 | c.2359G>C (p.Gly787Arg) c.2356G>C (p.Gly786Arg) n.2949G>C c.2362G>C (p.Gly788Arg) c.1258G>C (p.Gly420Arg) | |
19 | g.12649213C>T | CA404241471 | MAN2B1 | c.2359G>A (p.Gly787Arg) c.2356G>A (p.Gly786Arg) n.2949G>A c.2362G>A (p.Gly788Arg) c.1258G>A (p.Gly420Arg) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.12649214A>C | CA404241474 | MAN2B1 | c.2358T>G (p.Asp786Glu) c.2355T>G (p.Asp785Glu) n.2948T>G c.2361T>G (p.Asp787Glu) c.1257T>G (p.Asp419Glu) | |
19 | g.12649214A>G | CA505624470 | MAN2B1 | c.2358T>C (p.Asp786=) c.2355T>C (p.Asp785=) n.2948T>C c.2361T>C (p.Asp787=) c.1257T>C (p.Asp419=) | |
19 | g.12649214A>T | CA404241473 | MAN2B1 | c.2358T>A (p.Asp786Glu) c.2355T>A (p.Asp785Glu) n.2948T>A c.2361T>A (p.Asp787Glu) c.1257T>A (p.Asp419Glu) | |
19 | g.12649215T>A | CA404241475 | MAN2B1 | c.2357A>T (p.Asp786Val) c.2354A>T (p.Asp785Val) n.2947A>T c.2360A>T (p.Asp787Val) c.1256A>T (p.Asp419Val) | |
19 | g.12649215T>C | CA404241477 | MAN2B1 | c.2357A>G (p.Asp786Gly) c.2354A>G (p.Asp785Gly) n.2947A>G c.2360A>G (p.Asp787Gly) c.1256A>G (p.Asp419Gly) | |
19 | g.12649215T>G | CA404241478 | MAN2B1 | c.2357A>C (p.Asp786Ala) c.2354A>C (p.Asp785Ala) n.2947A>C c.2360A>C (p.Asp787Ala) c.1256A>C (p.Asp419Ala) | |
19 | g.12649216C>A | CA404241480 | MAN2B1 | c.2356G>T (p.Asp786Tyr) c.2353G>T (p.Asp785Tyr) n.2946G>T c.2359G>T (p.Asp787Tyr) c.1255G>T (p.Asp419Tyr) | |
19 | g.12649216C>G | CA404241482 | MAN2B1 | c.2356G>C (p.Asp786His) c.2353G>C (p.Asp785His) n.2946G>C c.2359G>C (p.Asp787His) c.1255G>C (p.Asp419His) | |
19 | g.12649216C>T | CA404241483 | MAN2B1 | c.2356G>A (p.Asp786Asn) c.2353G>A (p.Asp785Asn) n.2946G>A c.2359G>A (p.Asp787Asn) c.1255G>A (p.Asp419Asn) | |
19 | g.12649217C>A | CA404241484 | MAN2B1 | c.2356-1G>T (n.2356-1G>T) c.2353-1G>T (n.2353-1G>T) n.2946-1G>T c.2359-1G>T (n.2359-1G>T) c.1255-1G>T (n.1255-1G>T) | |
19 | g.12649217C>G | CA404241486 | MAN2B1 | c.2356-1G>C (n.2356-1G>C) c.2353-1G>C (n.2353-1G>C) n.2946-1G>C c.2359-1G>C (n.2359-1G>C) c.1255-1G>C (n.1255-1G>C) | |
19 | g.12649217C>T | CA404241488 | MAN2B1 | c.2356-1G>A (n.2356-1G>A) c.2353-1G>A (n.2353-1G>A) n.2946-1G>A c.2359-1G>A (n.2359-1G>A) c.1255-1G>A (n.1255-1G>A) | |
19 | g.12649218T>A | CA404241490 | MAN2B1 | c.2356-2A>T (n.2356-2A>T) c.2353-2A>T (n.2353-2A>T) n.2946-2A>T c.2359-2A>T (n.2359-2A>T) c.1255-2A>T (n.1255-2A>T) | |
19 | g.12649218T>C | CA16620767 | MAN2B1 | c.2356-2A>G (n.2356-2A>G) c.2353-2A>G (n.2353-2A>G) n.2946-2A>G c.2359-2A>G (n.2359-2A>G) c.1255-2A>G (n.1255-2A>G) | ClinVar dbSNP |
19 | g.12649218T>G | CA404241491 | MAN2B1 | c.2356-2A>C (n.2356-2A>C) c.2353-2A>C (n.2353-2A>C) n.2946-2A>C c.2359-2A>C (n.2359-2A>C) c.1255-2A>C (n.1255-2A>C) | |
19 | g.12649218T= | CA2323499584 | MAN2B1 | c.2356-2A= (n.2356-2A=) c.2353-2A= (n.2353-2A=) n.2946-2A= c.2359-2A= (n.2359-2A=) c.1255-2A= (n.1255-2A=) | |
19 | g.12649219G= | CA2323499585 | MAN2B1 | c.2356-3C= (n.2356-3C=) c.2353-3C= (n.2353-3C=) n.2946-3C= c.2359-3C= (n.2359-3C=) c.1255-3C= (n.1255-3C=) | |
19 | g.12649219G>T | CA631832636 | MAN2B1 | c.2356-3C>A (n.2356-3C>A) c.2353-3C>A (n.2353-3C>A) n.2946-3C>A c.2359-3C>A (n.2359-3C>A) c.1255-3C>A (n.1255-3C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12649221del | CA2735733640 | MAN2B1 | c.2356-3del (n.2356-3del) c.2353-3del (n.2353-3del) n.2946-3del c.2359-3del (n.2359-3del) c.1255-3del (n.1255-3del) | dbSNP |
19 | g.12649220G>A | CA645607530 | MAN2B1 | c.2356-4C>T (n.2356-4C>T) c.2353-4C>T (n.2353-4C>T) n.2946-4C>T c.2359-4C>T (n.2359-4C>T) c.1255-4C>T (n.1255-4C>T) | COSMIC |
19 | g.12649220G>T | CA2499225364 | MAN2B1 | c.2356-4C>A (n.2356-4C>A) c.2353-4C>A (n.2353-4C>A) n.2946-4C>A c.2359-4C>A (n.2359-4C>A) c.1255-4C>A (n.1255-4C>A) | ClinVar dbSNP |
19 | g.12649221G>A | CA2582717945 | MAN2B1 | c.2356-5C>T (n.2356-5C>T) c.2353-5C>T (n.2353-5C>T) n.2946-5C>T c.2359-5C>T (n.2359-5C>T) c.1255-5C>T (n.1255-5C>T) | gnomAD v4 |
19 | g.12649221G>C | CA2697556353 | MAN2B1 | c.2356-5C>G (n.2356-5C>G) c.2353-5C>G (n.2353-5C>G) n.2946-5C>G c.2359-5C>G (n.2359-5C>G) c.1255-5C>G (n.1255-5C>G) | ClinVar |
19 | g.12649222A= | CA2323499586 | MAN2B1 | c.2356-6T= (n.2356-6T=) c.2353-6T= (n.2353-6T=) n.2946-6T= c.2359-6T= (n.2359-6T=) c.1255-6T= (n.1255-6T=) | |
19 | g.12649222A>G | CA2323499587 | MAN2B1 | c.2356-6T>C (n.2356-6T>C) c.2353-6T>C (n.2353-6T>C) n.2946-6T>C c.2359-6T>C (n.2359-6T>C) c.1255-6T>C (n.1255-6T>C) | dbSNP |
19 | g.12649222_12649223insACAT | CA631832638 | MAN2B1 | c.2356-7_2356-6insATGT (n.2356-7_2356-6insATGT) c.2353-7_2353-6insATGT (n.2353-7_2353-6insATGT) n.2946-7_2946-6insATGT c.2359-7_2359-6insATGT (n.2359-7_2359-6insATGT) c.1255-7_1255-6insATGT (n.1255-7_1255-6insATGT) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.12649224T>C | CA993664979 | MAN2B1 | c.2356-8A>G (n.2356-8A>G) c.2353-8A>G (n.2353-8A>G) n.2946-8A>G c.2359-8A>G (n.2359-8A>G) c.1255-8A>G (n.1255-8A>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.12649224T= | CA2323499588 | MAN2B1 | c.2356-8A= (n.2356-8A=) c.2353-8A= (n.2353-8A=) n.2946-8A= c.2359-8A= (n.2359-8A=) c.1255-8A= (n.1255-8A=) | |
19 | g.12649225T>G | CA2582717946 | MAN2B1 | c.2356-9A>C (n.2356-9A>C) c.2353-9A>C (n.2353-9A>C) n.2946-9A>C c.2359-9A>C (n.2359-9A>C) c.1255-9A>C (n.1255-9A>C) | gnomAD v4 |
19 | g.12649225_12649226insTCACCT | CA631832640 | MAN2B1 | c.2356-9_2356-8insGGTGAA (n.2356-9_2356-8insGGTGAA) c.2353-9_2353-8insGGTGAA (n.2353-9_2353-8insGGTGAA) n.2946-9_2946-8insGGTGAA c.2359-9_2359-8insGGTGAA (n.2359-9_2359-8insGGTGAA) c.1255-9_1255-8insGGTGAA (n.1255-9_1255-8insGGTGAA) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.12649226G>T | CA2739276536 | MAN2B1 | c.2356-10C>A (n.2356-10C>A) c.2353-10C>A (n.2353-10C>A) n.2946-10C>A c.2359-10C>A (n.2359-10C>A) c.1255-10C>A (n.1255-10C>A) | ClinVar |
19 | g.12649228A>T | CA2582717947 | MAN2B1 | c.2356-12T>A (n.2356-12T>A) c.2353-12T>A (n.2353-12T>A) n.2946-12T>A c.2359-12T>A (n.2359-12T>A) c.1255-12T>A (n.1255-12T>A) | gnomAD v4 |
19 | g.12649229G>A | CA631832642 | MAN2B1 | c.2356-13C>T (n.2356-13C>T) c.2353-13C>T (n.2353-13C>T) n.2946-13C>T c.2359-13C>T (n.2359-13C>T) c.1255-13C>T (n.1255-13C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.12649229G= | CA2323499589 | MAN2B1 | c.2356-13C= (n.2356-13C=) c.2353-13C= (n.2353-13C=) n.2946-13C= c.2359-13C= (n.2359-13C=) c.1255-13C= (n.1255-13C=) | |
19 | g.12649231dup | CA2840346948 | MAN2B1 | c.2356-13dup (n.2356-13dup) c.2353-13dup (n.2353-13dup) n.2946-13dup c.2359-13dup (n.2359-13dup) c.1255-13dup (n.1255-13dup) | |
19 | g.12649230G>A | CA631832644 | MAN2B1 | c.2356-14C>T (n.2356-14C>T) c.2353-14C>T (n.2353-14C>T) n.2946-14C>T c.2359-14C>T (n.2359-14C>T) c.1255-14C>T (n.1255-14C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.12649230G>C | CA2323499591 | MAN2B1 | c.2356-14C>G (n.2356-14C>G) c.2353-14C>G (n.2353-14C>G) n.2946-14C>G c.2359-14C>G (n.2359-14C>G) c.1255-14C>G (n.1255-14C>G) | dbSNP |
19 | g.12649230G= | CA2323499590 | MAN2B1 | c.2356-14C= (n.2356-14C=) c.2353-14C= (n.2353-14C=) n.2946-14C= c.2359-14C= (n.2359-14C=) c.1255-14C= (n.1255-14C=) | |
19 | g.12649231G>A | CA993664982 | MAN2B1 | c.2356-15C>T (n.2356-15C>T) c.2353-15C>T (n.2353-15C>T) n.2946-15C>T c.2359-15C>T (n.2359-15C>T) c.1255-15C>T (n.1255-15C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.12649231G>C | CA2576634848 | MAN2B1 | c.2356-15C>G (n.2356-15C>G) c.2353-15C>G (n.2353-15C>G) n.2946-15C>G c.2359-15C>G (n.2359-15C>G) c.1255-15C>G (n.1255-15C>G) | |
19 | g.12649231G= | CA2323499592 | MAN2B1 | c.2356-15C= (n.2356-15C=) c.2353-15C= (n.2353-15C=) n.2946-15C= c.2359-15C= (n.2359-15C=) c.1255-15C= (n.1255-15C=) | |
19 | g.12649232_12649233del | CA2576634847 | MAN2B1 | c.2356-16_2356-15del (n.2356-16_2356-15del) c.2353-16_2353-15del (n.2353-16_2353-15del) n.2946-16_2946-15del c.2359-16_2359-15del (n.2359-16_2359-15del) c.1255-16_1255-15del (n.1255-16_1255-15del) | |
19 | g.12649233G>A | CA2582717948 | MAN2B1 | c.2356-17C>T (n.2356-17C>T) c.2353-17C>T (n.2353-17C>T) n.2946-17C>T c.2359-17C>T (n.2359-17C>T) c.1255-17C>T (n.1255-17C>T) | gnomAD v4 |
19 | g.12649233G>C | CA993664984 | MAN2B1 | c.2356-17C>G (n.2356-17C>G) c.2353-17C>G (n.2353-17C>G) n.2946-17C>G c.2359-17C>G (n.2359-17C>G) c.1255-17C>G (n.1255-17C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.12649233G= | CA2323499593 | MAN2B1 | c.2356-17C= (n.2356-17C=) c.2353-17C= (n.2353-17C=) n.2946-17C= c.2359-17C= (n.2359-17C=) c.1255-17C= (n.1255-17C=) | |
19 | g.12649234A>G | CA2582717949 | MAN2B1 | c.2356-18T>C (n.2356-18T>C) c.2353-18T>C (n.2353-18T>C) n.2946-18T>C c.2359-18T>C (n.2359-18T>C) c.1255-18T>C (n.1255-18T>C) | gnomAD v4 |
19 | g.12649236del | CA2576634849 | MAN2B1 | c.2356-18del (n.2356-18del) c.2353-18del (n.2353-18del) n.2946-18del c.2359-18del (n.2359-18del) c.1255-18del (n.1255-18del) | |
19 | g.12649235_12649236del | CA2697556354 | MAN2B1 | c.2356-19_2356-18del (n.2356-19_2356-18del) c.2353-19_2353-18del (n.2353-19_2353-18del) n.2946-19_2946-18del c.2359-19_2359-18del (n.2359-19_2359-18del) c.1255-19_1255-18del (n.1255-19_1255-18del) | ClinVar |
19 | g.12649238T>G | CA9226054 | MAN2B1 | c.2356-22A>C (n.2356-22A>C) c.2353-22A>C (n.2353-22A>C) n.2946-22A>C c.2359-22A>C (n.2359-22A>C) c.1255-22A>C (n.1255-22A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12649238T= | CA2323499594 | MAN2B1 | c.2356-22A= (n.2356-22A=) c.2353-22A= (n.2353-22A=) n.2946-22A= c.2359-22A= (n.2359-22A=) c.1255-22A= (n.1255-22A=) | |
19 | g.12649238_12649239insTGAAGGG | CA2576634850 | MAN2B1 | c.2356-23_2356-22insCCCTTCA (n.2356-23_2356-22insCCCTTCA) c.2353-23_2353-22insCCCTTCA (n.2353-23_2353-22insCCCTTCA) n.2946-23_2946-22insCCCTTCA c.2359-23_2359-22insCCCTTCA (n.2359-23_2359-22insCCCTTCA) c.1255-23_1255-22insCCCTTCA (n.1255-23_1255-22insCCCTTCA) | |
19 | g.12649239A>T | CA2576634851 | MAN2B1 | c.2356-23T>A (n.2356-23T>A) c.2353-23T>A (n.2353-23T>A) n.2946-23T>A c.2359-23T>A (n.2359-23T>A) c.1255-23T>A (n.1255-23T>A) | |
19 | g.12649241dup | CA2582717950 | MAN2B1 | c.2356-25dup (n.2356-25dup) c.2353-25dup (n.2353-25dup) n.2946-25dup c.2359-25dup (n.2359-25dup) c.1255-25dup (n.1255-25dup) | dbSNP gnomAD v4 |
19 | g.12649242G>A | CA2582717951 | MAN2B1 | c.2356-26C>T (n.2356-26C>T) c.2353-26C>T (n.2353-26C>T) n.2946-26C>T c.2359-26C>T (n.2359-26C>T) c.1255-26C>T (n.1255-26C>T) | gnomAD v4 |
19 | g.12649242G>T | CA2582717952 | MAN2B1 | c.2356-26C>A (n.2356-26C>A) c.2353-26C>A (n.2353-26C>A) n.2946-26C>A c.2359-26C>A (n.2359-26C>A) c.1255-26C>A (n.1255-26C>A) | gnomAD v4 |
19 | g.12649244del | CA2576634852 | MAN2B1 | c.2356-26del (n.2356-26del) c.2353-26del (n.2353-26del) n.2946-26del c.2359-26del (n.2359-26del) c.1255-26del (n.1255-26del) | |
19 | g.12649244G>A | CA2582717953 | MAN2B1 | c.2356-28C>T (n.2356-28C>T) c.2353-28C>T (n.2353-28C>T) n.2946-28C>T c.2359-28C>T (n.2359-28C>T) c.1255-28C>T (n.1255-28C>T) | gnomAD v4 |
19 | g.12649247G= | CA2323499595 | MAN2B1 | c.2356-31C= (n.2356-31C=) c.2353-31C= (n.2353-31C=) n.2946-31C= c.2359-31C= (n.2359-31C=) c.1255-31C= (n.1255-31C=) | |
19 | g.12649247G>T | CA2582717954 | MAN2B1 | c.2356-31C>A (n.2356-31C>A) c.2353-31C>A (n.2353-31C>A) n.2946-31C>A c.2359-31C>A (n.2359-31C>A) c.1255-31C>A (n.1255-31C>A) | gnomAD v4 |
19 | g.12649248T>C | CA993664987 | MAN2B1 | c.2356-32A>G (n.2356-32A>G) c.2353-32A>G (n.2353-32A>G) n.2946-32A>G c.2359-32A>G (n.2359-32A>G) c.1255-32A>G (n.1255-32A>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.12649248T= | CA2323499596 | MAN2B1 | c.2356-32A= (n.2356-32A=) c.2353-32A= (n.2353-32A=) n.2946-32A= c.2359-32A= (n.2359-32A=) c.1255-32A= (n.1255-32A=) | |
19 | g.12649248_12649253dup | CA993664986 | MAN2B1 | c.2356-37_2356-32dup (n.2356-37_2356-32dup) c.2353-37_2353-32dup (n.2353-37_2353-32dup) n.2946-37_2946-32dup c.2359-37_2359-32dup (n.2359-37_2359-32dup) c.1255-37_1255-32dup (n.1255-37_1255-32dup) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.12649249C>T | CA2582717955 | MAN2B1 | c.2356-33G>A (n.2356-33G>A) c.2353-33G>A (n.2353-33G>A) n.2946-33G>A c.2359-33G>A (n.2359-33G>A) c.1255-33G>A (n.1255-33G>A) | gnomAD v4 |
19 | g.12649250A>G | CA2576634853 | MAN2B1 | c.2356-34T>C (n.2356-34T>C) c.2353-34T>C (n.2353-34T>C) n.2946-34T>C c.2359-34T>C (n.2359-34T>C) c.1255-34T>C (n.1255-34T>C) | |
19 | g.12649251A= | CA2323499597 | MAN2B1 | c.2356-35T= (n.2356-35T=) c.2353-35T= (n.2353-35T=) n.2946-35T= c.2359-35T= (n.2359-35T=) c.1255-35T= (n.1255-35T=) | |
19 | g.12649251A>C | CA631832649 | MAN2B1 | c.2356-35T>G (n.2356-35T>G) c.2353-35T>G (n.2353-35T>G) n.2946-35T>G c.2359-35T>G (n.2359-35T>G) c.1255-35T>G (n.1255-35T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12649251A>T | CA9226055 | MAN2B1 | c.2356-35T>A (n.2356-35T>A) c.2353-35T>A (n.2353-35T>A) n.2946-35T>A c.2359-35T>A (n.2359-35T>A) c.1255-35T>A (n.1255-35T>A) | dbSNP ExAC gnomAD v2 |
19 | g.12649252C>A | CA2582717957 | MAN2B1 | c.2356-36G>T (n.2356-36G>T) c.2353-36G>T (n.2353-36G>T) n.2946-36G>T c.2359-36G>T (n.2359-36G>T) c.1255-36G>T (n.1255-36G>T) | gnomAD v4 |
19 | g.12649254_12649255dup | CA2582717956 | MAN2B1 | c.2356-37_2356-36dup (n.2356-37_2356-36dup) c.2353-37_2353-36dup (n.2353-37_2353-36dup) n.2946-37_2946-36dup c.2359-37_2359-36dup (n.2359-37_2359-36dup) c.1255-37_1255-36dup (n.1255-37_1255-36dup) | gnomAD v4 |
19 | g.12649253C>A | CA2582717958 | MAN2B1 | c.2356-37G>T (n.2356-37G>T) c.2353-37G>T (n.2353-37G>T) n.2946-37G>T c.2359-37G>T (n.2359-37G>T) c.1255-37G>T (n.1255-37G>T) | gnomAD v4 |
19 | g.12649254C>A | CA631832651 | MAN2B1 | c.2356-38G>T (n.2356-38G>T) c.2353-38G>T (n.2353-38G>T) n.2946-38G>T c.2359-38G>T (n.2359-38G>T) c.1255-38G>T (n.1255-38G>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.12649254C= | CA2323499598 | MAN2B1 | c.2356-38G= (n.2356-38G=) c.2353-38G= (n.2353-38G=) n.2946-38G= c.2359-38G= (n.2359-38G=) c.1255-38G= (n.1255-38G=) | |
19 | g.12649255C>A | CA2323499600 | MAN2B1 | c.2356-39G>T (n.2356-39G>T) c.2353-39G>T (n.2353-39G>T) n.2946-39G>T c.2359-39G>T (n.2359-39G>T) c.1255-39G>T (n.1255-39G>T) | dbSNP |
19 | g.12649255C= | CA2323499599 | MAN2B1 | c.2356-39G= (n.2356-39G=) c.2353-39G= (n.2353-39G=) n.2946-39G= c.2359-39G= (n.2359-39G=) c.1255-39G= (n.1255-39G=) | |
19 | g.12649255C>G | CA2323499601 | MAN2B1 | c.2356-39G>C (n.2356-39G>C) c.2353-39G>C (n.2353-39G>C) n.2946-39G>C c.2359-39G>C (n.2359-39G>C) c.1255-39G>C (n.1255-39G>C) | dbSNP |
19 | g.12649255C>T | CA993664990 | MAN2B1 | c.2356-39G>A (n.2356-39G>A) c.2353-39G>A (n.2353-39G>A) n.2946-39G>A c.2359-39G>A (n.2359-39G>A) c.1255-39G>A (n.1255-39G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.12649256A>T | CA2582717959 | MAN2B1 | c.2356-40T>A (n.2356-40T>A) c.2353-40T>A (n.2353-40T>A) n.2946-40T>A c.2359-40T>A (n.2359-40T>A) c.1255-40T>A (n.1255-40T>A) | gnomAD v4 |
19 | g.12649257A>T | CA2576634854 | MAN2B1 | c.2356-41T>A (n.2356-41T>A) c.2353-41T>A (n.2353-41T>A) n.2946-41T>A c.2359-41T>A (n.2359-41T>A) c.1255-41T>A (n.1255-41T>A) | |
19 | g.12649257_12649258insACACA | CA2813644892 | MAN2B1 | c.2356-41_2356-40insGTGTT (n.2356-41_2356-40insGTGTT) c.2353-41_2353-40insGTGTT (n.2353-41_2353-40insGTGTT) n.2946-41_2946-40insGTGTT c.2359-41_2359-40insGTGTT (n.2359-41_2359-40insGTGTT) c.1255-41_1255-40insGTGTT (n.1255-41_1255-40insGTGTT) | |
19 | g.12649258C>A | CA631832652 | MAN2B1 | c.2356-42G>T (n.2356-42G>T) c.2353-42G>T (n.2353-42G>T) n.2946-42G>T c.2359-42G>T (n.2359-42G>T) c.1255-42G>T (n.1255-42G>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.12649258C= | CA2323499603 | MAN2B1 | c.2356-42G= (n.2356-42G=) c.2353-42G= (n.2353-42G=) n.2946-42G= c.2359-42G= (n.2359-42G=) c.1255-42G= (n.1255-42G=) | |
19 | g.12649258C>T | CA2323499602 | MAN2B1 | c.2356-42G>A (n.2356-42G>A) c.2353-42G>A (n.2353-42G>A) n.2946-42G>A c.2359-42G>A (n.2359-42G>A) c.1255-42G>A (n.1255-42G>A) | dbSNP gnomAD v4 |
19 | g.12649259C>A | CA2582717960 | MAN2B1 | c.2356-43G>T (n.2356-43G>T) c.2353-43G>T (n.2353-43G>T) n.2946-43G>T c.2359-43G>T (n.2359-43G>T) c.1255-43G>T (n.1255-43G>T) | gnomAD v4 |
19 | g.12649259C= | CA2323499604 | MAN2B1 | c.2356-43G= (n.2356-43G=) c.2353-43G= (n.2353-43G=) n.2946-43G= c.2359-43G= (n.2359-43G=) c.1255-43G= (n.1255-43G=) | |
19 | g.12649259C>G | CA2813644895 | MAN2B1 | c.2356-43G>C (n.2356-43G>C) c.2353-43G>C (n.2353-43G>C) n.2946-43G>C c.2359-43G>C (n.2359-43G>C) c.1255-43G>C (n.1255-43G>C) | |
19 | g.12649259C>T | CA631832653 | MAN2B1 | c.2356-43G>A (n.2356-43G>A) c.2353-43G>A (n.2353-43G>A) n.2946-43G>A c.2359-43G>A (n.2359-43G>A) c.1255-43G>A (n.1255-43G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.12649260C= | CA2323499605 | MAN2B1 | c.2356-44G= (n.2356-44G=) c.2353-44G= (n.2353-44G=) n.2946-44G= c.2359-44G= (n.2359-44G=) c.1255-44G= (n.1255-44G=) | |
19 | g.12649260C>T | CA783385442 | MAN2B1 | c.2356-44G>A (n.2356-44G>A) c.2353-44G>A (n.2353-44G>A) n.2946-44G>A c.2359-44G>A (n.2359-44G>A) c.1255-44G>A (n.1255-44G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.12649260_12649261insAA | CA2813644896 | MAN2B1 | c.2356-45_2356-44insTT (n.2356-45_2356-44insTT) c.2353-45_2353-44insTT (n.2353-45_2353-44insTT) n.2946-45_2946-44insTT c.2359-45_2359-44insTT (n.2359-45_2359-44insTT) c.1255-45_1255-44insTT (n.1255-45_1255-44insTT) | |
19 | g.12649261C= | CA2323499606 | MAN2B1 | c.2356-45G= (n.2356-45G=) c.2353-45G= (n.2353-45G=) n.2946-45G= c.2359-45G= (n.2359-45G=) c.1255-45G= (n.1255-45G=) | |
19 | g.12649261C>T | CA9226056 | MAN2B1 | c.2356-45G>A (n.2356-45G>A) c.2353-45G>A (n.2353-45G>A) n.2946-45G>A c.2359-45G>A (n.2359-45G>A) c.1255-45G>A (n.1255-45G>A) | dbSNP ExAC |
19 | g.12649262A>G | CA2582717962 | MAN2B1 | c.2356-46T>C (n.2356-46T>C) c.2353-46T>C (n.2353-46T>C) n.2946-46T>C c.2359-46T>C (n.2359-46T>C) c.1255-46T>C (n.1255-46T>C) | gnomAD v4 |
19 | g.12649262A>T | CA2582717961 | MAN2B1 | c.2356-46T>A (n.2356-46T>A) c.2353-46T>A (n.2353-46T>A) n.2946-46T>A c.2359-46T>A (n.2359-46T>A) c.1255-46T>A (n.1255-46T>A) | gnomAD v4 |
19 | g.12649263G>A | CA2582717963 | MAN2B1 | c.2356-47C>T (n.2356-47C>T) c.2353-47C>T (n.2353-47C>T) n.2946-47C>T c.2359-47C>T (n.2359-47C>T) c.1255-47C>T (n.1255-47C>T) | gnomAD v4 |
19 | g.12649263G>C | CA2735733651 | MAN2B1 | c.2356-47C>G (n.2356-47C>G) c.2353-47C>G (n.2353-47C>G) n.2946-47C>G c.2359-47C>G (n.2359-47C>G) c.1255-47C>G (n.1255-47C>G) | dbSNP |
19 | g.12649263G>T | CA2576634855 | MAN2B1 | c.2356-47C>A (n.2356-47C>A) c.2353-47C>A (n.2353-47C>A) n.2946-47C>A c.2359-47C>A (n.2359-47C>A) c.1255-47C>A (n.1255-47C>A) | gnomAD v4 |
19 | g.12649263_12649264del | CA2813644897 | MAN2B1 | c.2356-48_2356-47del (n.2356-48_2356-47del) c.2353-48_2353-47del (n.2353-48_2353-47del) n.2946-48_2946-47del c.2359-48_2359-47del (n.2359-48_2359-47del) c.1255-48_1255-47del (n.1255-48_1255-47del) | |
19 | g.12649264G>A | CA2576634856 | MAN2B1 | c.2356-48C>T (n.2356-48C>T) c.2353-48C>T (n.2353-48C>T) n.2946-48C>T c.2359-48C>T (n.2359-48C>T) c.1255-48C>T (n.1255-48C>T) |