Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.12649084A>G | CA2839630242 | MAN2B1 | c.2436+52T>C (n.2436+52T>C) c.2433+52T>C (n.2433+52T>C) n.3026+52T>C c.2439+52T>C (n.2439+52T>C) c.1335+52T>C (n.1335+52T>C) | |
19 | g.12649084A>T | CA2576634840 | MAN2B1 | c.2436+52T>A (n.2436+52T>A) c.2433+52T>A (n.2433+52T>A) n.3026+52T>A c.2439+52T>A (n.2439+52T>A) c.1335+52T>A (n.1335+52T>A) | |
19 | g.12649088del | CA2582717922 | MAN2B1 | c.2436+51del (n.2436+51del) c.2433+51del (n.2433+51del) n.3026+51del c.2439+51del (n.2439+51del) c.1335+51del (n.1335+51del) | gnomAD v4 |
19 | g.12649088_12649099del | CA2582717923 | MAN2B1 | c.2436+40_2436+51del (n.2436+40_2436+51del) c.2433+40_2433+51del (n.2433+40_2433+51del) n.3026+40_3026+51del c.2439+40_2439+51del (n.2439+40_2439+51del) c.1335+40_1335+51del (n.1335+40_1335+51del) | gnomAD v4 |
19 | g.12649086G>A | CA9226031 | MAN2B1 | c.2436+50C>T (n.2436+50C>T) c.2433+50C>T (n.2433+50C>T) n.3026+50C>T c.2439+50C>T (n.2439+50C>T) c.1335+50C>T (n.1335+50C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12649086G>C | CA2582717924 | MAN2B1 | c.2436+50C>G (n.2436+50C>G) c.2433+50C>G (n.2433+50C>G) n.3026+50C>G c.2439+50C>G (n.2439+50C>G) c.1335+50C>G (n.1335+50C>G) | gnomAD v4 |
19 | g.12649086G= | CA2323499523 | MAN2B1 | c.2436+50C= (n.2436+50C=) c.2433+50C= (n.2433+50C=) n.3026+50C= c.2439+50C= (n.2439+50C=) c.1335+50C= (n.1335+50C=) | |
19 | g.12649086G>T | CA2840346946 | MAN2B1 | c.2436+50C>A (n.2436+50C>A) c.2433+50C>A (n.2433+50C>A) n.3026+50C>A c.2439+50C>A (n.2439+50C>A) c.1335+50C>A (n.1335+50C>A) | |
19 | g.12649087G>C | CA783385255 | MAN2B1 | c.2436+49C>G (n.2436+49C>G) c.2433+49C>G (n.2433+49C>G) n.3026+49C>G c.2439+49C>G (n.2439+49C>G) c.1335+49C>G (n.1335+49C>G) | dbSNP |
19 | g.12649087G= | CA2323499524 | MAN2B1 | c.2436+49C= (n.2436+49C=) c.2433+49C= (n.2433+49C=) n.3026+49C= c.2439+49C= (n.2439+49C=) c.1335+49C= (n.1335+49C=) | |
19 | g.12649087G>T | CA9226032 | MAN2B1 | c.2436+49C>A (n.2436+49C>A) c.2433+49C>A (n.2433+49C>A) n.3026+49C>A c.2439+49C>A (n.2439+49C>A) c.1335+49C>A (n.1335+49C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12649088G>T | CA2582717925 | MAN2B1 | c.2436+48C>A (n.2436+48C>A) c.2433+48C>A (n.2433+48C>A) n.3026+48C>A c.2439+48C>A (n.2439+48C>A) c.1335+48C>A (n.1335+48C>A) | gnomAD v4 |
19 | g.12649089T>C | CA2323499526 | MAN2B1 | c.2436+47A>G (n.2436+47A>G) c.2433+47A>G (n.2433+47A>G) n.3026+47A>G c.2439+47A>G (n.2439+47A>G) c.1335+47A>G (n.1335+47A>G) | dbSNP gnomAD v4 |
19 | g.12649089T>G | CA2735669412 | MAN2B1 | c.2436+47A>C (n.2436+47A>C) c.2433+47A>C (n.2433+47A>C) n.3026+47A>C c.2439+47A>C (n.2439+47A>C) c.1335+47A>C (n.1335+47A>C) | dbSNP |
19 | g.12649089T= | CA2323499525 | MAN2B1 | c.2436+47A= (n.2436+47A=) c.2433+47A= (n.2433+47A=) n.3026+47A= c.2439+47A= (n.2439+47A=) c.1335+47A= (n.1335+47A=) | |
19 | g.12649090C>A | CA2553211382 | MAN2B1 | c.2436+46G>T (n.2436+46G>T) c.2433+46G>T (n.2433+46G>T) n.3026+46G>T c.2439+46G>T (n.2439+46G>T) c.1335+46G>T (n.1335+46G>T) | |
19 | g.12649091C>A | CA2582717926 | MAN2B1 | c.2436+45G>T (n.2436+45G>T) c.2433+45G>T (n.2433+45G>T) n.3026+45G>T c.2439+45G>T (n.2439+45G>T) c.1335+45G>T (n.1335+45G>T) | gnomAD v4 |
19 | g.12649091C= | CA2323499527 | MAN2B1 | c.2436+45G= (n.2436+45G=) c.2433+45G= (n.2433+45G=) n.3026+45G= c.2439+45G= (n.2439+45G=) c.1335+45G= (n.1335+45G=) | |
19 | g.12649091C>G | CA9226033 | MAN2B1 | c.2436+45G>C (n.2436+45G>C) c.2433+45G>C (n.2433+45G>C) n.3026+45G>C c.2439+45G>C (n.2439+45G>C) c.1335+45G>C (n.1335+45G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12649091C>T | CA631832586 | MAN2B1 | c.2436+45G>A (n.2436+45G>A) c.2433+45G>A (n.2433+45G>A) n.3026+45G>A c.2439+45G>A (n.2439+45G>A) c.1335+45G>A (n.1335+45G>A) | dbSNP gnomAD v2 |
19 | g.12649092A= | CA2323499528 | MAN2B1 | c.2436+44T= (n.2436+44T=) c.2433+44T= (n.2433+44T=) n.3026+44T= c.2439+44T= (n.2439+44T=) c.1335+44T= (n.1335+44T=) | |
19 | g.12649092A>C | CA2323499529 | MAN2B1 | c.2436+44T>G (n.2436+44T>G) c.2433+44T>G (n.2433+44T>G) n.3026+44T>G c.2439+44T>G (n.2439+44T>G) c.1335+44T>G (n.1335+44T>G) | dbSNP gnomAD v4 |
19 | g.12649092A>G | CA2813644878 | MAN2B1 | c.2436+44T>C (n.2436+44T>C) c.2433+44T>C (n.2433+44T>C) n.3026+44T>C c.2439+44T>C (n.2439+44T>C) c.1335+44T>C (n.1335+44T>C) | |
19 | g.12649092_12649093del | CA2838360258 | MAN2B1 | c.2436+43_2436+44del (n.2436+43_2436+44del) c.2433+43_2433+44del (n.2433+43_2433+44del) n.3026+43_3026+44del c.2439+43_2439+44del (n.2439+43_2439+44del) c.1335+43_1335+44del (n.1335+43_1335+44del) | |
19 | g.12649093G>C | CA9226035 | MAN2B1 | c.2436+43C>G (n.2436+43C>G) c.2433+43C>G (n.2433+43C>G) n.3026+43C>G c.2439+43C>G (n.2439+43C>G) c.1335+43C>G (n.1335+43C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12649093G= | CA2323499530 | MAN2B1 | c.2436+43C= (n.2436+43C=) c.2433+43C= (n.2433+43C=) n.3026+43C= c.2439+43C= (n.2439+43C=) c.1335+43C= (n.1335+43C=) | |
19 | g.12649093G>T | CA9226034 | MAN2B1 | c.2436+43C>A (n.2436+43C>A) c.2433+43C>A (n.2433+43C>A) n.3026+43C>A c.2439+43C>A (n.2439+43C>A) c.1335+43C>A (n.1335+43C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12649094G>A | CA2323499531 | MAN2B1 | c.2436+42C>T (n.2436+42C>T) c.2433+42C>T (n.2433+42C>T) n.3026+42C>T c.2439+42C>T (n.2439+42C>T) c.1335+42C>T (n.1335+42C>T) | dbSNP |
19 | g.12649094G= | CA2323499532 | MAN2B1 | c.2436+42C= (n.2436+42C=) c.2433+42C= (n.2433+42C=) n.3026+42C= c.2439+42C= (n.2439+42C=) c.1335+42C= (n.1335+42C=) | |
19 | g.12649095T>A | CA783385258 | MAN2B1 | c.2436+41A>T (n.2436+41A>T) c.2433+41A>T (n.2433+41A>T) n.3026+41A>T c.2439+41A>T (n.2439+41A>T) c.1335+41A>T (n.1335+41A>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.12649095T= | CA2323499533 | MAN2B1 | c.2436+41A= (n.2436+41A=) c.2433+41A= (n.2433+41A=) n.3026+41A= c.2439+41A= (n.2439+41A=) c.1335+41A= (n.1335+41A=) | |
19 | g.12649096T>C | CA2576634841 | MAN2B1 | c.2436+40A>G (n.2436+40A>G) c.2433+40A>G (n.2433+40A>G) n.3026+40A>G c.2439+40A>G (n.2439+40A>G) c.1335+40A>G (n.1335+40A>G) | |
19 | g.12649097G>T | CA2582717927 | MAN2B1 | c.2436+39C>A (n.2436+39C>A) c.2433+39C>A (n.2433+39C>A) n.3026+39C>A c.2439+39C>A (n.2439+39C>A) c.1335+39C>A (n.1335+39C>A) | gnomAD v4 |
19 | g.12649099G>A | CA2582717928 | MAN2B1 | c.2436+37C>T (n.2436+37C>T) c.2433+37C>T (n.2433+37C>T) n.3026+37C>T c.2439+37C>T (n.2439+37C>T) c.1335+37C>T (n.1335+37C>T) | gnomAD v4 |
19 | g.12649099G>C | CA2582717929 | MAN2B1 | c.2436+37C>G (n.2436+37C>G) c.2433+37C>G (n.2433+37C>G) n.3026+37C>G c.2439+37C>G (n.2439+37C>G) c.1335+37C>G (n.1335+37C>G) | gnomAD v4 |
19 | g.12649099G>T | CA2582717930 | MAN2B1 | c.2436+37C>A (n.2436+37C>A) c.2433+37C>A (n.2433+37C>A) n.3026+37C>A c.2439+37C>A (n.2439+37C>A) c.1335+37C>A (n.1335+37C>A) | gnomAD v4 |
19 | g.12649100A>G | CA2838360263 | MAN2B1 | c.2436+36T>C (n.2436+36T>C) c.2433+36T>C (n.2433+36T>C) n.3026+36T>C c.2439+36T>C (n.2439+36T>C) c.1335+36T>C (n.1335+36T>C) | |
19 | g.12649102G>A | CA2838360264 | MAN2B1 | c.2436+34C>T (n.2436+34C>T) c.2433+34C>T (n.2433+34C>T) n.3026+34C>T c.2439+34C>T (n.2439+34C>T) c.1335+34C>T (n.1335+34C>T) | |
19 | g.12649102G>T | CA2582717931 | MAN2B1 | c.2436+34C>A (n.2436+34C>A) c.2433+34C>A (n.2433+34C>A) n.3026+34C>A c.2439+34C>A (n.2439+34C>A) c.1335+34C>A (n.1335+34C>A) | gnomAD v4 |
19 | g.12649104C>A | CA2323499535 | MAN2B1 | c.2436+32G>T (n.2436+32G>T) c.2433+32G>T (n.2433+32G>T) n.3026+32G>T c.2439+32G>T (n.2439+32G>T) c.1335+32G>T (n.1335+32G>T) | dbSNP gnomAD v4 |
19 | g.12649104C= | CA2323499534 | MAN2B1 | c.2436+32G= (n.2436+32G=) c.2433+32G= (n.2433+32G=) n.3026+32G= c.2439+32G= (n.2439+32G=) c.1335+32G= (n.1335+32G=) | |
19 | g.12649104C>T | CA2582717932 | MAN2B1 | c.2436+32G>A (n.2436+32G>A) c.2433+32G>A (n.2433+32G>A) n.3026+32G>A c.2439+32G>A (n.2439+32G>A) c.1335+32G>A (n.1335+32G>A) | gnomAD v4 |
19 | g.12649106C>A | CA2839200622 | MAN2B1 | c.2436+30G>T (n.2436+30G>T) c.2433+30G>T (n.2433+30G>T) n.3026+30G>T c.2439+30G>T (n.2439+30G>T) c.1335+30G>T (n.1335+30G>T) | |
19 | g.12649107T>A | CA631832590 | MAN2B1 | c.2436+29A>T (n.2436+29A>T) c.2433+29A>T (n.2433+29A>T) n.3026+29A>T c.2439+29A>T (n.2439+29A>T) c.1335+29A>T (n.1335+29A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12649107T= | CA2323499536 | MAN2B1 | c.2436+29A= (n.2436+29A=) c.2433+29A= (n.2433+29A=) n.3026+29A= c.2439+29A= (n.2439+29A=) c.1335+29A= (n.1335+29A=) | |
19 | g.12649108G>T | CA2576634842 | MAN2B1 | c.2436+28C>A (n.2436+28C>A) c.2433+28C>A (n.2433+28C>A) n.3026+28C>A c.2439+28C>A (n.2439+28C>A) c.1335+28C>A (n.1335+28C>A) | |
19 | g.12649109G>T | CA2582717933 | MAN2B1 | c.2436+27C>A (n.2436+27C>A) c.2433+27C>A (n.2433+27C>A) n.3026+27C>A c.2439+27C>A (n.2439+27C>A) c.1335+27C>A (n.1335+27C>A) | gnomAD v4 |
19 | g.12649110C>A | CA2582717934 | MAN2B1 | c.2436+26G>T (n.2436+26G>T) c.2433+26G>T (n.2433+26G>T) n.3026+26G>T c.2439+26G>T (n.2439+26G>T) c.1335+26G>T (n.1335+26G>T) | gnomAD v4 |
19 | g.12649110C= | CA2323499537 | MAN2B1 | c.2436+26G= (n.2436+26G=) c.2433+26G= (n.2433+26G=) n.3026+26G= c.2439+26G= (n.2439+26G=) c.1335+26G= (n.1335+26G=) | |
19 | g.12649110C>G | CA9226036 | MAN2B1 | c.2436+26G>C (n.2436+26G>C) c.2433+26G>C (n.2433+26G>C) n.3026+26G>C c.2439+26G>C (n.2439+26G>C) c.1335+26G>C (n.1335+26G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12649110C>T | CA2582717935 | MAN2B1 | c.2436+26G>A (n.2436+26G>A) c.2433+26G>A (n.2433+26G>A) n.3026+26G>A c.2439+26G>A (n.2439+26G>A) c.1335+26G>A (n.1335+26G>A) | gnomAD v4 |
19 | g.12649112C>A | CA2582717936 | MAN2B1 | c.2436+24G>T (n.2436+24G>T) c.2433+24G>T (n.2433+24G>T) n.3026+24G>T c.2439+24G>T (n.2439+24G>T) c.1335+24G>T (n.1335+24G>T) | gnomAD v4 |
19 | g.12649112C= | CA2323499538 | MAN2B1 | c.2436+24G= (n.2436+24G=) c.2433+24G= (n.2433+24G=) n.3026+24G= c.2439+24G= (n.2439+24G=) c.1335+24G= (n.1335+24G=) | |
19 | g.12649112C>G | CA2735647105 | MAN2B1 | c.2436+24G>C (n.2436+24G>C) c.2433+24G>C (n.2433+24G>C) n.3026+24G>C c.2439+24G>C (n.2439+24G>C) c.1335+24G>C (n.1335+24G>C) | dbSNP |
19 | g.12649112C>T | CA783385262 | MAN2B1 | c.2436+24G>A (n.2436+24G>A) c.2433+24G>A (n.2433+24G>A) n.3026+24G>A c.2439+24G>A (n.2439+24G>A) c.1335+24G>A (n.1335+24G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.12649113G>A | CA631832591 | MAN2B1 | c.2436+23C>T (n.2436+23C>T) c.2433+23C>T (n.2433+23C>T) n.3026+23C>T c.2439+23C>T (n.2439+23C>T) c.1335+23C>T (n.1335+23C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12649113G>C | CA2576634843 | MAN2B1 | c.2436+23C>G (n.2436+23C>G) c.2433+23C>G (n.2433+23C>G) n.3026+23C>G c.2439+23C>G (n.2439+23C>G) c.1335+23C>G (n.1335+23C>G) | |
19 | g.12649113G= | CA2323499539 | MAN2B1 | c.2436+23C= (n.2436+23C=) c.2433+23C= (n.2433+23C=) n.3026+23C= c.2439+23C= (n.2439+23C=) c.1335+23C= (n.1335+23C=) | |
19 | g.12649114G>C | CA631832594 | MAN2B1 | c.2436+22C>G (n.2436+22C>G) c.2433+22C>G (n.2433+22C>G) n.3026+22C>G c.2439+22C>G (n.2439+22C>G) c.1335+22C>G (n.1335+22C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12649114G= | CA2323499540 | MAN2B1 | c.2436+22C= (n.2436+22C=) c.2433+22C= (n.2433+22C=) n.3026+22C= c.2439+22C= (n.2439+22C=) c.1335+22C= (n.1335+22C=) | |
19 | g.12649114G>T | CA2576634844 | MAN2B1 | c.2436+22C>A (n.2436+22C>A) c.2433+22C>A (n.2433+22C>A) n.3026+22C>A c.2439+22C>A (n.2439+22C>A) c.1335+22C>A (n.1335+22C>A) | |
19 | g.12649117G>A | CA2582717937 | MAN2B1 | c.2436+19C>T (n.2436+19C>T) c.2433+19C>T (n.2433+19C>T) n.3026+19C>T c.2439+19C>T (n.2439+19C>T) c.1335+19C>T (n.1335+19C>T) | gnomAD v4 |
19 | g.12649120del | CA2576634845 | MAN2B1 | c.2436+19del (n.2436+19del) c.2433+19del (n.2433+19del) n.3026+19del c.2439+19del (n.2439+19del) c.1335+19del (n.1335+19del) | |
19 | g.12649118G>A | CA2576634846 | MAN2B1 | c.2436+18C>T (n.2436+18C>T) c.2433+18C>T (n.2433+18C>T) n.3026+18C>T c.2439+18C>T (n.2439+18C>T) c.1335+18C>T (n.1335+18C>T) | |
19 | g.12649118G>T | CA2839630243 | MAN2B1 | c.2436+18C>A (n.2436+18C>A) c.2433+18C>A (n.2433+18C>A) n.3026+18C>A c.2439+18C>A (n.2439+18C>A) c.1335+18C>A (n.1335+18C>A) | |
19 | g.12649119G>A | CA9226037 | MAN2B1 | c.2436+17C>T (n.2436+17C>T) c.2433+17C>T (n.2433+17C>T) n.3026+17C>T c.2439+17C>T (n.2439+17C>T) c.1335+17C>T (n.1335+17C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12649119G= | CA2323499541 | MAN2B1 | c.2436+17C= (n.2436+17C=) c.2433+17C= (n.2433+17C=) n.3026+17C= c.2439+17C= (n.2439+17C=) c.1335+17C= (n.1335+17C=) | |
19 | g.12649119G>T | CA2739276535 | MAN2B1 | c.2436+17C>A (n.2436+17C>A) c.2433+17C>A (n.2433+17C>A) n.3026+17C>A c.2439+17C>A (n.2439+17C>A) c.1335+17C>A (n.1335+17C>A) | ClinVar |
19 | g.12649120G>T | CA2582717938 | MAN2B1 | c.2436+16C>A (n.2436+16C>A) c.2433+16C>A (n.2433+16C>A) n.3026+16C>A c.2439+16C>A (n.2439+16C>A) c.1335+16C>A (n.1335+16C>A) | gnomAD v4 |
19 | g.12649121C>A | CA2840346947 | MAN2B1 | c.2436+15G>T (n.2436+15G>T) c.2433+15G>T (n.2433+15G>T) n.3026+15G>T c.2439+15G>T (n.2439+15G>T) c.1335+15G>T (n.1335+15G>T) | |
19 | g.12649123C>A | CA2582717939 | MAN2B1 | c.2436+13G>T (n.2436+13G>T) c.2433+13G>T (n.2433+13G>T) n.3026+13G>T c.2439+13G>T (n.2439+13G>T) c.1335+13G>T (n.1335+13G>T) | gnomAD v4 |
19 | g.12649123C= | CA2323499542 | MAN2B1 | c.2436+13G= (n.2436+13G=) c.2433+13G= (n.2433+13G=) n.3026+13G= c.2439+13G= (n.2439+13G=) c.1335+13G= (n.1335+13G=) | |
19 | g.12649123C>G | CA993664912 | MAN2B1 | c.2436+13G>C (n.2436+13G>C) c.2433+13G>C (n.2433+13G>C) n.3026+13G>C c.2439+13G>C (n.2439+13G>C) c.1335+13G>C (n.1335+13G>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.12649124T>C | CA2697556351 | MAN2B1 | c.2436+12A>G (n.2436+12A>G) c.2433+12A>G (n.2433+12A>G) n.3026+12A>G c.2439+12A>G (n.2439+12A>G) c.1335+12A>G (n.1335+12A>G) | ClinVar |
19 | g.12649125G>T | CA2582717940 | MAN2B1 | c.2436+11C>A (n.2436+11C>A) c.2433+11C>A (n.2433+11C>A) n.3026+11C>A c.2439+11C>A (n.2439+11C>A) c.1335+11C>A (n.1335+11C>A) | gnomAD v4 |
19 | g.12649126A= | CA2323499543 | MAN2B1 | c.2436+10T= (n.2436+10T=) c.2433+10T= (n.2433+10T=) n.3026+10T= c.2439+10T= (n.2439+10T=) c.1335+10T= (n.1335+10T=) | |
19 | g.12649126A>C | CA2323499544 | MAN2B1 | c.2436+10T>G (n.2436+10T>G) c.2433+10T>G (n.2433+10T>G) n.3026+10T>G c.2439+10T>G (n.2439+10T>G) c.1335+10T>G (n.1335+10T>G) | dbSNP |
19 | g.12649127C>A | CA2582717941 | MAN2B1 | c.2436+9G>T (n.2436+9G>T) c.2433+9G>T (n.2433+9G>T) n.3026+9G>T c.2439+9G>T (n.2439+9G>T) c.1335+9G>T (n.1335+9G>T) | gnomAD v4 |
19 | g.12649127C= | CA2323499545 | MAN2B1 | c.2436+9G= (n.2436+9G=) c.2433+9G= (n.2433+9G=) n.3026+9G= c.2439+9G= (n.2439+9G=) c.1335+9G= (n.1335+9G=) | |
19 | g.12649127C>T | CA305461800 | MAN2B1 | c.2436+9G>A (n.2436+9G>A) c.2433+9G>A (n.2433+9G>A) n.3026+9G>A c.2439+9G>A (n.2439+9G>A) c.1335+9G>A (n.1335+9G>A) | dbSNP |
19 | g.12649129dup | CA2582717942 | MAN2B1 | c.2436+9dup (n.2436+9dup) c.2433+9dup (n.2433+9dup) n.3026+9dup c.2439+9dup (n.2439+9dup) c.1335+9dup (n.1335+9dup) | gnomAD v4 |
19 | g.12649128C>A | CA631832597 | MAN2B1 | c.2436+8G>T (n.2436+8G>T) c.2433+8G>T (n.2433+8G>T) n.3026+8G>T c.2439+8G>T (n.2439+8G>T) c.1335+8G>T (n.1335+8G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12649128C= | CA2323499546 | MAN2B1 | c.2436+8G= (n.2436+8G=) c.2433+8G= (n.2433+8G=) n.3026+8G= c.2439+8G= (n.2439+8G=) c.1335+8G= (n.1335+8G=) | |
19 | g.12649128C>G | CA2499225363 | MAN2B1 | c.2436+8G>C (n.2436+8G>C) c.2433+8G>C (n.2433+8G>C) n.3026+8G>C c.2439+8G>C (n.2439+8G>C) c.1335+8G>C (n.1335+8G>C) | ClinVar dbSNP gnomAD v4 |
19 | g.12649129C>G | CA505624416 | MAN2B1 | c.2436+7G>C (n.2436+7G>C) c.2433+7G>C (n.2433+7G>C) n.3026+7G>C c.2439+7G>C (n.2439+7G>C) c.1335+7G>C (n.1335+7G>C) | ClinVar dbSNP gnomAD v4 |
19 | g.12649131C>T | CA2582717943 | MAN2B1 | c.2436+5G>A (n.2436+5G>A) c.2433+5G>A (n.2433+5G>A) n.3026+5G>A c.2439+5G>A (n.2439+5G>A) c.1335+5G>A (n.1335+5G>A) | ClinVar gnomAD v4 |
19 | g.12649134A= | CA2323499547 | MAN2B1 | c.2436+2T= (n.2436+2T=) c.2433+2T= (n.2433+2T=) n.3026+2T= c.2439+2T= (n.2439+2T=) c.1335+2T= (n.1335+2T=) | |
19 | g.12649134A>C | CA404240816 | MAN2B1 | c.2436+2T>G (n.2436+2T>G) c.2433+2T>G (n.2433+2T>G) n.3026+2T>G c.2439+2T>G (n.2439+2T>G) c.1335+2T>G (n.1335+2T>G) | |
19 | g.12649134A>G | CA221084 | MAN2B1 | c.2436+2T>C (n.2436+2T>C) c.2433+2T>C (n.2433+2T>C) n.3026+2T>C c.2439+2T>C (n.2439+2T>C) c.1335+2T>C (n.1335+2T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.12649134A>T | CA404240817 | MAN2B1 | c.2436+2T>A (n.2436+2T>A) c.2433+2T>A (n.2433+2T>A) n.3026+2T>A c.2439+2T>A (n.2439+2T>A) c.1335+2T>A (n.1335+2T>A) | |
19 | g.12649135C>A | CA404240820 | MAN2B1 | c.2436+1G>T (n.2436+1G>T) c.2433+1G>T (n.2433+1G>T) n.3026+1G>T c.2439+1G>T (n.2439+1G>T) c.1335+1G>T (n.1335+1G>T) | |
19 | g.12649135C= | CA2323499548 | MAN2B1 | c.2436+1G= (n.2436+1G=) c.2433+1G= (n.2433+1G=) n.3026+1G= c.2439+1G= (n.2439+1G=) c.1335+1G= (n.1335+1G=) | |
19 | g.12649135C>G | CA404240822 | MAN2B1 | c.2436+1G>C (n.2436+1G>C) c.2433+1G>C (n.2433+1G>C) n.3026+1G>C c.2439+1G>C (n.2439+1G>C) c.1335+1G>C (n.1335+1G>C) | gnomAD v4 |
19 | g.12649135C>T | CA305461804 | MAN2B1 | c.2436+1G>A (n.2436+1G>A) c.2433+1G>A (n.2433+1G>A) n.3026+1G>A c.2439+1G>A (n.2439+1G>A) c.1335+1G>A (n.1335+1G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.12649136del | CA2582717944 | MAN2B1 | c.2436+1del c.2433+1del n.3026+1del c.2439+1del c.1335+1del | gnomAD v4 |
19 | g.12649136C>A | CA404240825 | MAN2B1 | c.2436G>T (p.Met812Ile) c.2433G>T (p.Met811Ile) n.3026G>T c.2439G>T (p.Met813Ile) c.1335G>T (p.Met445Ile) | |
19 | g.12649136C>G | CA404240832 | MAN2B1 | c.2436G>C (p.Met812Ile) c.2433G>C (p.Met811Ile) n.3026G>C c.2439G>C (p.Met813Ile) c.1335G>C (p.Met445Ile) | |
19 | g.12649136C>T | CA404240835 | MAN2B1 | c.2436G>A (p.Met812Ile) c.2433G>A (p.Met811Ile) n.3026G>A c.2439G>A (p.Met813Ile) c.1335G>A (p.Met445Ile) | |
19 | g.12649137A= | CA2323499549 | MAN2B1 | c.2435T= (p.Met812=) c.2432T= (p.Met811=) n.3025T= c.2438T= (p.Met813=) c.1334T= (p.Met445=) | |
19 | g.12649137A>C | CA404240848 | MAN2B1 | c.2435T>G (p.Met812Arg) c.2432T>G (p.Met811Arg) n.3025T>G c.2438T>G (p.Met813Arg) c.1334T>G (p.Met445Arg) | |
19 | g.12649137A>G | CA9226038 | MAN2B1 | c.2435T>C (p.Met812Thr) c.2432T>C (p.Met811Thr) n.3025T>C c.2438T>C (p.Met813Thr) c.1334T>C (p.Met445Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12649137A>T | CA404240843 | MAN2B1 | c.2435T>A (p.Met812Lys) c.2432T>A (p.Met811Lys) n.3025T>A c.2438T>A (p.Met813Lys) c.1334T>A (p.Met445Lys) | |
19 | g.12649138T>A | CA404240853 | MAN2B1 | c.2434A>T (p.Met812Leu) c.2431A>T (p.Met811Leu) n.3024A>T c.2437A>T (p.Met813Leu) c.1333A>T (p.Met445Leu) | |
19 | g.12649138T>C | CA404240856 | MAN2B1 | c.2434A>G (p.Met812Val) c.2431A>G (p.Met811Val) n.3024A>G c.2437A>G (p.Met813Val) c.1333A>G (p.Met445Val) | |
19 | g.12649138T>G | CA404240857 | MAN2B1 | c.2434A>C (p.Met812Leu) c.2431A>C (p.Met811Leu) n.3024A>C c.2437A>C (p.Met813Leu) c.1333A>C (p.Met445Leu) | gnomAD v4 |
19 | g.12649139G>A | CA505624417 | MAN2B1 | c.2433C>T (p.Leu811=) c.2430C>T (p.Leu810=) n.3023C>T c.2436C>T (p.Leu812=) c.1332C>T (p.Leu444=) | |
19 | g.12649139G>C | CA505624418 | MAN2B1 | c.2433C>G (p.Leu811=) c.2430C>G (p.Leu810=) n.3023C>G c.2436C>G (p.Leu812=) c.1332C>G (p.Leu444=) | gnomAD v4 |
19 | g.12649139G>T | CA505624419 | MAN2B1 | c.2433C>A (p.Leu811=) c.2430C>A (p.Leu810=) n.3023C>A c.2436C>A (p.Leu812=) c.1332C>A (p.Leu444=) | |
19 | g.12649140A>C | CA404240859 | MAN2B1 | c.2432T>G (p.Leu811Arg) c.2429T>G (p.Leu810Arg) n.3022T>G c.2435T>G (p.Leu812Arg) c.1331T>G (p.Leu444Arg) | |
19 | g.12649140A>G | CA404240861 | MAN2B1 | c.2432T>C (p.Leu811Pro) c.2429T>C (p.Leu810Pro) n.3022T>C c.2435T>C (p.Leu812Pro) c.1331T>C (p.Leu444Pro) | |
19 | g.12649140A>T | CA404240864 | MAN2B1 | c.2432T>A (p.Leu811His) c.2429T>A (p.Leu810His) n.3022T>A c.2435T>A (p.Leu812His) c.1331T>A (p.Leu444His) | |
19 | g.12649141G>A | CA9226039 | MAN2B1 | c.2431C>T (p.Leu811Phe) c.2428C>T (p.Leu810Phe) n.3021C>T c.2434C>T (p.Leu812Phe) c.1330C>T (p.Leu444Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12649141G>C | CA404240867 | MAN2B1 | c.2431C>G (p.Leu811Val) c.2428C>G (p.Leu810Val) n.3021C>G c.2434C>G (p.Leu812Val) c.1330C>G (p.Leu444Val) | |
19 | g.12649141G= | CA2323499550 | MAN2B1 | c.2431C= (p.Leu811=) c.2428C= (p.Leu810=) n.3021C= c.2434C= (p.Leu812=) c.1330C= (p.Leu444=) | |
19 | g.12649141G>T | CA404240870 | MAN2B1 | c.2431C>A (p.Leu811Ile) c.2428C>A (p.Leu810Ile) n.3021C>A c.2434C>A (p.Leu812Ile) c.1330C>A (p.Leu444Ile) | |
19 | g.12649142C>A | CA404240875 | MAN2B1 | c.2430G>T (p.Glu810Asp) c.2427G>T (p.Glu809Asp) n.3020G>T c.2433G>T (p.Glu811Asp) c.1329G>T (p.Glu443Asp) | |
19 | g.12649142C>G | CA404240880 | MAN2B1 | c.2430G>C (p.Glu810Asp) c.2427G>C (p.Glu809Asp) n.3020G>C c.2433G>C (p.Glu811Asp) c.1329G>C (p.Glu443Asp) | |
19 | g.12649142C>T | CA505624420 | MAN2B1 | c.2430G>A (p.Glu810=) c.2427G>A (p.Glu809=) n.3020G>A c.2433G>A (p.Glu811=) c.1329G>A (p.Glu443=) | |
19 | g.12649143T>A | CA404240881 | MAN2B1 | c.2429A>T (p.Glu810Val) c.2426A>T (p.Glu809Val) n.3019A>T c.2432A>T (p.Glu811Val) c.1328A>T (p.Glu443Val) | |
19 | g.12649143T>C | CA404240884 | MAN2B1 | c.2429A>G (p.Glu810Gly) c.2426A>G (p.Glu809Gly) n.3019A>G c.2432A>G (p.Glu811Gly) c.1328A>G (p.Glu443Gly) | |
19 | g.12649143T>G | CA404240891 | MAN2B1 | c.2429A>C (p.Glu810Ala) c.2426A>C (p.Glu809Ala) n.3019A>C c.2432A>C (p.Glu811Ala) c.1328A>C (p.Glu443Ala) | |
19 | g.12649144C>A | CA404240893 | MAN2B1 | c.2428G>T (p.Glu810Ter) c.2425G>T (p.Glu809Ter) n.3018G>T c.2431G>T (p.Glu811Ter) c.1327G>T (p.Glu443Ter) | |
19 | g.12649144C= | CA2323499551 | MAN2B1 | c.2428G= (p.Glu810=) c.2425G= (p.Glu809=) n.3018G= c.2431G= (p.Glu811=) c.1327G= (p.Glu443=) | |
19 | g.12649144C>G | CA404240895 | MAN2B1 | c.2428G>C (p.Glu810Gln) c.2425G>C (p.Glu809Gln) n.3018G>C c.2431G>C (p.Glu811Gln) c.1327G>C (p.Glu443Gln) | dbSNP |
19 | g.12649144C>T | CA404240894 | MAN2B1 | c.2428G>A (p.Glu810Lys) c.2425G>A (p.Glu809Lys) n.3018G>A c.2431G>A (p.Glu811Lys) c.1327G>A (p.Glu443Lys) | |
19 | g.12649145C>A | CA505624422 | MAN2B1 | c.2427G>T (p.Leu809=) c.2424G>T (p.Leu808=) n.3017G>T c.2430G>T (p.Leu810=) c.1326G>T (p.Leu442=) | |
19 | g.12649145C>G | CA505624423 | MAN2B1 | c.2427G>C (p.Leu809=) c.2424G>C (p.Leu808=) n.3017G>C c.2430G>C (p.Leu810=) c.1326G>C (p.Leu442=) | |
19 | g.12649145C>T | CA505624421 | MAN2B1 | c.2427G>A (p.Leu809=) c.2424G>A (p.Leu808=) n.3017G>A c.2430G>A (p.Leu810=) c.1326G>A (p.Leu442=) | |
19 | g.12649146A= | CA2323499552 | MAN2B1 | c.2426T= (p.Leu809=) c.2423T= (p.Leu808=) n.3016T= c.2429T= (p.Leu810=) c.1325T= (p.Leu442=) | |
19 | g.12649146A>C | CA404240897 | MAN2B1 | c.2426T>G (p.Leu809Arg) c.2423T>G (p.Leu808Arg) n.3016T>G c.2429T>G (p.Leu810Arg) c.1325T>G (p.Leu442Arg) | |
19 | g.12649146A>G | CA341737 | MAN2B1 | c.2426T>C (p.Leu809Pro) c.2423T>C (p.Leu808Pro) n.3016T>C c.2429T>C (p.Leu810Pro) c.1325T>C (p.Leu442Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12649146A>T | CA404240901 | MAN2B1 | c.2426T>A (p.Leu809Gln) c.2423T>A (p.Leu808Gln) n.3016T>A c.2429T>A (p.Leu810Gln) c.1325T>A (p.Leu442Gln) | |
19 | g.12649147G>A | CA505624424 | MAN2B1 | c.2425C>T (p.Leu809=) c.2422C>T (p.Leu808=) n.3015C>T c.2428C>T (p.Leu810=) c.1324C>T (p.Leu442=) | |
19 | g.12649147G>C | CA404240906 | MAN2B1 | c.2425C>G (p.Leu809Val) c.2422C>G (p.Leu808Val) n.3015C>G c.2428C>G (p.Leu810Val) c.1324C>G (p.Leu442Val) | |
19 | g.12649147G>T | CA404240908 | MAN2B1 | c.2425C>A (p.Leu809Met) c.2422C>A (p.Leu808Met) n.3015C>A c.2428C>A (p.Leu810Met) c.1324C>A (p.Leu442Met) | |
19 | g.12649148C>A | CA505624425 | MAN2B1 | c.2424G>T (p.Ser808=) c.2421G>T (p.Ser807=) n.3014G>T c.2427G>T (p.Ser809=) c.1323G>T (p.Ser441=) | gnomAD v4 |
19 | g.12649148C= | CA2323499553 | MAN2B1 | c.2424G= (p.Ser808=) c.2421G= (p.Ser807=) n.3014G= c.2427G= (p.Ser809=) c.1323G= (p.Ser441=) | |
19 | g.12649148C>G | CA505624426 | MAN2B1 | c.2424G>C (p.Ser808=) c.2421G>C (p.Ser807=) n.3014G>C c.2427G>C (p.Ser809=) c.1323G>C (p.Ser441=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.12649148C>T | CA9226040 | MAN2B1 | c.2424G>A (p.Ser808=) c.2421G>A (p.Ser807=) n.3014G>A c.2427G>A (p.Ser809=) c.1323G>A (p.Ser441=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12649149G>A | CA404240923 | MAN2B1 | c.2423C>T (p.Ser808Leu) c.2420C>T (p.Ser807Leu) n.3013C>T c.2426C>T (p.Ser809Leu) c.1322C>T (p.Ser441Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12649149G>C | CA404240928 | MAN2B1 | c.2423C>G (p.Ser808Trp) c.2420C>G (p.Ser807Trp) n.3013C>G c.2426C>G (p.Ser809Trp) c.1322C>G (p.Ser441Trp) | |
19 | g.12649149G= | CA2323499554 | MAN2B1 | c.2423C= (p.Ser808=) c.2420C= (p.Ser807=) n.3013C= c.2426C= (p.Ser809=) c.1322C= (p.Ser441=) | |
19 | g.12649149G>T | CA404240933 | MAN2B1 | c.2423C>A (p.Ser808Ter) c.2420C>A (p.Ser807Ter) n.3013C>A c.2426C>A (p.Ser809Ter) c.1322C>A (p.Ser441Ter) | |
19 | g.12649150A= | CA2323499555 | MAN2B1 | c.2422T= (p.Ser808=) c.2419T= (p.Ser807=) n.3012T= c.2425T= (p.Ser809=) c.1321T= (p.Ser441=) | |
19 | g.12649150A>C | CA404240935 | MAN2B1 | c.2422T>G (p.Ser808Ala) c.2419T>G (p.Ser807Ala) n.3012T>G c.2425T>G (p.Ser809Ala) c.1321T>G (p.Ser441Ala) | |
19 | g.12649150A>G | CA305461818 | MAN2B1 | c.2422T>C (p.Ser808Pro) c.2419T>C (p.Ser807Pro) n.3012T>C c.2425T>C (p.Ser809Pro) c.1321T>C (p.Ser441Pro) | dbSNP |
19 | g.12649150A>T | CA404240941 | MAN2B1 | c.2422T>A (p.Ser808Thr) c.2419T>A (p.Ser807Thr) n.3012T>A c.2425T>A (p.Ser809Thr) c.1321T>A (p.Ser441Thr) | dbSNP |
19 | g.12649151G>A | CA505624427 | MAN2B1 | c.2421C>T (p.Gly807=) c.2418C>T (p.Gly806=) n.3011C>T c.2424C>T (p.Gly808=) c.1320C>T (p.Gly440=) | ClinVar dbSNP |
19 | g.12649151G>C | CA505624428 | MAN2B1 | c.2421C>G (p.Gly807=) c.2418C>G (p.Gly806=) n.3011C>G c.2424C>G (p.Gly808=) c.1320C>G (p.Gly440=) | ClinVar dbSNP |
19 | g.12649151G= | CA2323499556 | MAN2B1 | c.2421C= (p.Gly807=) c.2418C= (p.Gly806=) n.3011C= c.2424C= (p.Gly808=) c.1320C= (p.Gly440=) | |
19 | g.12649151G>T | CA505624429 | MAN2B1 | c.2421C>A (p.Gly807=) c.2418C>A (p.Gly806=) n.3011C>A c.2424C>A (p.Gly808=) c.1320C>A (p.Gly440=) | |
19 | g.12649152C>A | CA404240945 | MAN2B1 | c.2420G>T (p.Gly807Val) c.2417G>T (p.Gly806Val) n.3010G>T c.2423G>T (p.Gly808Val) c.1319G>T (p.Gly440Val) | |
19 | g.12649152C>G | CA404240950 | MAN2B1 | c.2420G>C (p.Gly807Ala) c.2417G>C (p.Gly806Ala) n.3010G>C c.2423G>C (p.Gly808Ala) c.1319G>C (p.Gly440Ala) | |
19 | g.12649152C>T | CA404240948 | MAN2B1 | c.2420G>A (p.Gly807Asp) c.2417G>A (p.Gly806Asp) n.3010G>A c.2423G>A (p.Gly808Asp) c.1319G>A (p.Gly440Asp) | gnomAD v4 |
19 | g.12649153C>A | CA404240953 | MAN2B1 | c.2419G>T (p.Gly807Cys) c.2416G>T (p.Gly806Cys) n.3009G>T c.2422G>T (p.Gly808Cys) c.1318G>T (p.Gly440Cys) | |
19 | g.12649153C>G | CA404240959 | MAN2B1 | c.2419G>C (p.Gly807Arg) c.2416G>C (p.Gly806Arg) n.3009G>C c.2422G>C (p.Gly808Arg) c.1318G>C (p.Gly440Arg) | |
19 | g.12649153C>T | CA404240956 | MAN2B1 | c.2419G>A (p.Gly807Ser) c.2416G>A (p.Gly806Ser) n.3009G>A c.2422G>A (p.Gly808Ser) c.1318G>A (p.Gly440Ser) | gnomAD v4 |
19 | g.12649154A>C | CA404240961 | MAN2B1 | c.2418T>G (p.Asp806Glu) c.2415T>G (p.Asp805Glu) n.3008T>G c.2421T>G (p.Asp807Glu) c.1317T>G (p.Asp439Glu) | |
19 | g.12649154A>G | CA505624430 | MAN2B1 | c.2418T>C (p.Asp806=) c.2415T>C (p.Asp805=) n.3008T>C c.2421T>C (p.Asp807=) c.1317T>C (p.Asp439=) | |
19 | g.12649154A>T | CA404240965 | MAN2B1 | c.2418T>A (p.Asp806Glu) c.2415T>A (p.Asp805Glu) n.3008T>A c.2421T>A (p.Asp807Glu) c.1317T>A (p.Asp439Glu) | |
19 | g.12649154_12649158delinsATCTC | CA2323499557 | MAN2B1 | c.2414_2418delinsGAGAT (p.Arg805=) c.2411_2415delinsGAGAT (p.Arg804=) n.3004_3008delinsGAGAT c.2417_2421delinsGAGAT (p.Arg806=) c.1313_1317delinsGAGAT (p.Arg438=) | |
19 | g.12649155T>A | CA404240969 | MAN2B1 | c.2417A>T (p.Asp806Val) c.2414A>T (p.Asp805Val) n.3007A>T c.2420A>T (p.Asp807Val) c.1316A>T (p.Asp439Val) | |
19 | g.12649155T>C | CA404240973 | MAN2B1 | c.2417A>G (p.Asp806Gly) c.2414A>G (p.Asp805Gly) n.3007A>G c.2420A>G (p.Asp807Gly) c.1316A>G (p.Asp439Gly) | |
19 | g.12649155T>G | CA404240971 | MAN2B1 | c.2417A>C (p.Asp806Ala) c.2414A>C (p.Asp805Ala) n.3007A>C c.2420A>C (p.Asp807Ala) c.1316A>C (p.Asp439Ala) | |
19 | g.12649157_12649160del | CA631832606 | MAN2B1 | c.2414_2417del (p.Arg805MetfsTer13) c.2411_2414del (p.Arg804MetfsTer13) n.3004_3007del c.2417_2420del (p.Arg806MetfsTer13) c.1313_1316del (p.Arg438MetfsTer13) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.12649156C>A | CA404240977 | MAN2B1 | c.2416G>T (p.Asp806Tyr) c.2413G>T (p.Asp805Tyr) n.3006G>T c.2419G>T (p.Asp807Tyr) c.1315G>T (p.Asp439Tyr) | |
19 | g.12649156C= | CA2323499558 | MAN2B1 | c.2416G= (p.Asp806=) c.2413G= (p.Asp805=) n.3006G= c.2419G= (p.Asp807=) c.1315G= (p.Asp439=) | |
19 | g.12649156C>G | CA404240981 | MAN2B1 | c.2416G>C (p.Asp806His) c.2413G>C (p.Asp805His) n.3006G>C c.2419G>C (p.Asp807His) c.1315G>C (p.Asp439His) | gnomAD v4 |
19 | g.12649156C>T | CA404240987 | MAN2B1 | c.2416G>A (p.Asp806Asn) c.2413G>A (p.Asp805Asn) n.3006G>A c.2419G>A (p.Asp807Asn) c.1315G>A (p.Asp439Asn) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.12649157T>A | CA404240989 | MAN2B1 | c.2415A>T (p.Arg805Ser) c.2412A>T (p.Arg804Ser) n.3005A>T c.2418A>T (p.Arg806Ser) c.1314A>T (p.Arg438Ser) | |
19 | g.12649157T>C | CA505624431 | MAN2B1 | c.2415A>G (p.Arg805=) c.2412A>G (p.Arg804=) n.3005A>G c.2418A>G (p.Arg806=) c.1314A>G (p.Arg438=) | ClinVar gnomAD v4 |
19 | g.12649157T>G | CA404240991 | MAN2B1 | c.2415A>C (p.Arg805Ser) c.2412A>C (p.Arg804Ser) n.3005A>C c.2418A>C (p.Arg806Ser) c.1314A>C (p.Arg438Ser) | |
19 | g.12649158C>A | CA404240993 | MAN2B1 | c.2414G>T (p.Arg805Ile) c.2411G>T (p.Arg804Ile) n.3004G>T c.2417G>T (p.Arg806Ile) c.1313G>T (p.Arg438Ile) | |
19 | g.12649158C= | CA2323499559 | MAN2B1 | c.2414G= (p.Arg805=) c.2411G= (p.Arg804=) n.3004G= c.2417G= (p.Arg806=) c.1313G= (p.Arg438=) | |
19 | g.12649158C>G | CA404240996 | MAN2B1 | c.2414G>C (p.Arg805Thr) c.2411G>C (p.Arg804Thr) n.3004G>C c.2417G>C (p.Arg806Thr) c.1313G>C (p.Arg438Thr) | dbSNP gnomAD v4 |
19 | g.12649158C>T | CA404240999 | MAN2B1 | c.2414G>A (p.Arg805Lys) c.2411G>A (p.Arg804Lys) n.3004G>A c.2417G>A (p.Arg806Lys) c.1313G>A (p.Arg438Lys) | |
19 | g.12649159T>A | CA404241001 | MAN2B1 | c.2413A>T (p.Arg805Ter) c.2410A>T (p.Arg804Ter) n.3003A>T c.2416A>T (p.Arg806Ter) c.1312A>T (p.Arg438Ter) | |
19 | g.12649159T>C | CA404241003 | MAN2B1 | c.2413A>G (p.Arg805Gly) c.2410A>G (p.Arg804Gly) n.3003A>G c.2416A>G (p.Arg806Gly) c.1312A>G (p.Arg438Gly) | |
19 | g.12649159T>G | CA505624432 | MAN2B1 | c.2413A>C (p.Arg805=) c.2410A>C (p.Arg804=) n.3003A>C c.2416A>C (p.Arg806=) c.1312A>C (p.Arg438=) | |
19 | g.12649160C>A | CA505624433 | MAN2B1 | c.2412G>T (p.Leu804=) c.2409G>T (p.Leu803=) n.3002G>T c.2415G>T (p.Leu805=) c.1311G>T (p.Leu437=) | |
19 | g.12649160C>G | CA505624434 | MAN2B1 | c.2412G>C (p.Leu804=) c.2409G>C (p.Leu803=) n.3002G>C c.2415G>C (p.Leu805=) c.1311G>C (p.Leu437=) | |
19 | g.12649160C>T | CA505624435 | MAN2B1 | c.2412G>A (p.Leu804=) c.2409G>A (p.Leu803=) n.3002G>A c.2415G>A (p.Leu805=) c.1311G>A (p.Leu437=) | |
19 | g.12649161A>C | CA404241015 | MAN2B1 | c.2411T>G (p.Leu804Arg) c.2408T>G (p.Leu803Arg) n.3001T>G c.2414T>G (p.Leu805Arg) c.1310T>G (p.Leu437Arg) | |
19 | g.12649161A>G | CA404241011 | MAN2B1 | c.2411T>C (p.Leu804Pro) c.2408T>C (p.Leu803Pro) n.3001T>C c.2414T>C (p.Leu805Pro) c.1310T>C (p.Leu437Pro) | |
19 | g.12649161A>T | CA404241008 | MAN2B1 | c.2411T>A (p.Leu804Gln) c.2408T>A (p.Leu803Gln) n.3001T>A c.2414T>A (p.Leu805Gln) c.1310T>A (p.Leu437Gln) | |
19 | g.12649162G>A | CA505624436 | MAN2B1 | c.2410C>T (p.Leu804=) c.2407C>T (p.Leu803=) n.3000C>T c.2413C>T (p.Leu805=) c.1309C>T (p.Leu437=) | |
19 | g.12649162G>C | CA404241022 | MAN2B1 | c.2410C>G (p.Leu804Val) c.2407C>G (p.Leu803Val) n.3000C>G c.2413C>G (p.Leu805Val) c.1309C>G (p.Leu437Val) | gnomAD v4 |
19 | g.12649162G>T | CA404241024 | MAN2B1 | c.2410C>A (p.Leu804Met) c.2407C>A (p.Leu803Met) n.3000C>A c.2413C>A (p.Leu805Met) c.1309C>A (p.Leu437Met) | |
19 | g.12649163G>A | CA9226041 | MAN2B1 | c.2409C>T (p.Ser803=) c.2406C>T (p.Ser802=) n.2999C>T c.2412C>T (p.Ser804=) c.1308C>T (p.Ser436=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12649163G>C | CA404241029 | MAN2B1 | c.2409C>G (p.Ser803Arg) c.2406C>G (p.Ser802Arg) n.2999C>G c.2412C>G (p.Ser804Arg) c.1308C>G (p.Ser436Arg) | |
19 | g.12649163G= | CA2323499560 | MAN2B1 | c.2409C= (p.Ser803=) c.2406C= (p.Ser802=) n.2999C= c.2412C= (p.Ser804=) c.1308C= (p.Ser436=) | |
19 | g.12649163G>T | CA404241033 | MAN2B1 | c.2409C>A (p.Ser803Arg) c.2406C>A (p.Ser802Arg) n.2999C>A c.2412C>A (p.Ser804Arg) c.1308C>A (p.Ser436Arg) | |
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.12649164C>A | CA404241037 | MAN2B1 | c.2408G>T (p.Ser803Ile) c.2405G>T (p.Ser802Ile) n.2998G>T c.2411G>T (p.Ser804Ile) c.1307G>T (p.Ser436Ile) | |
19 | g.12649164C>G | CA404241038 | MAN2B1 | c.2408G>C (p.Ser803Thr) c.2405G>C (p.Ser802Thr) n.2998G>C c.2411G>C (p.Ser804Thr) c.1307G>C (p.Ser436Thr) | |
19 | g.12649164C>T | CA404241041 | MAN2B1 | c.2408G>A (p.Ser803Asn) c.2405G>A (p.Ser802Asn) n.2998G>A c.2411G>A (p.Ser804Asn) c.1307G>A (p.Ser436Asn) | |
19 | g.12649165T>A | CA404241049 | MAN2B1 | c.2407A>T (p.Ser803Cys) c.2404A>T (p.Ser802Cys) n.2997A>T c.2410A>T (p.Ser804Cys) c.1306A>T (p.Ser436Cys) | |
19 | g.12649165T>C | CA404241052 | MAN2B1 | c.2407A>G (p.Ser803Gly) c.2404A>G (p.Ser802Gly) n.2997A>G c.2410A>G (p.Ser804Gly) c.1306A>G (p.Ser436Gly) | |
19 | g.12649165T>G | CA404241054 | MAN2B1 | c.2407A>C (p.Ser803Arg) c.2404A>C (p.Ser802Arg) n.2997A>C c.2410A>C (p.Ser804Arg) c.1306A>C (p.Ser436Arg) | |
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) |