Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.12663694_12663701delinsGCCCCCTA | CA2323506869 | MAN2B1 | c.763+2_763+9delinsTAGGGGGC (n.763+2_763+9delinsTAGGGGGC) n.745+2_745+9delinsTAGGGGGC c.466+2_466+9delinsTAGGGGGC (n.466+2_466+9delinsTAGGGGGC) c.-256+2_-256+9delinsTAGGGGGC (n.-256+2_-256+9delinsTAGGGGGC) | |
19 | g.12663695C>A | CA631837767 | MAN2B1 | c.763+8G>T (n.763+8G>T) n.745+8G>T c.466+8G>T (n.466+8G>T) c.-256+8G>T (n.-256+8G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12663695C= | CA2323506871 | MAN2B1 | c.763+8G= (n.763+8G=) n.745+8G= c.466+8G= (n.466+8G=) c.-256+8G= (n.-256+8G=) | |
19 | g.12663695C>T | CA2582722134 | MAN2B1 | c.763+8G>A (n.763+8G>A) n.745+8G>A c.466+8G>A (n.466+8G>A) c.-256+8G>A (n.-256+8G>A) | gnomAD v4 |
19 | g.12663697_12663703del | CA16041955 | MAN2B1 | c.763+2_763+8del n.745+2_745+8del c.466+2_466+8del c.-256+2_-256+8del | ClinVar dbSNP gnomAD v4 |
19 | g.12663696C>A | CA2842057684 | MAN2B1 | c.763+7G>T (n.763+7G>T) n.745+7G>T c.466+7G>T (n.466+7G>T) c.-256+7G>T (n.-256+7G>T) | |
19 | g.12663696C= | CA2323506872 | MAN2B1 | c.763+7G= (n.763+7G=) n.745+7G= c.466+7G= (n.466+7G=) c.-256+7G= (n.-256+7G=) | |
19 | g.12663696C>T | CA631837771 | MAN2B1 | c.763+7G>A (n.763+7G>A) n.745+7G>A c.466+7G>A (n.466+7G>A) c.-256+7G>A (n.-256+7G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.12663701A>C | CA404252482 | MAN2B1 | c.763+2T>G (n.763+2T>G) n.745+2T>G c.466+2T>G (n.466+2T>G) c.-256+2T>G (n.-256+2T>G) | |
19 | g.12663701A>G | CA404252484 | MAN2B1 | c.763+2T>C (n.763+2T>C) n.745+2T>C c.466+2T>C (n.466+2T>C) c.-256+2T>C (n.-256+2T>C) | gnomAD v4 |
19 | g.12663701A>T | CA404252486 | MAN2B1 | c.763+2T>A (n.763+2T>A) n.745+2T>A c.466+2T>A (n.466+2T>A) c.-256+2T>A (n.-256+2T>A) | |
19 | g.12663701dup | CA2842057685 | MAN2B1 | c.763+2dup (n.763+2dup) n.745+2dup c.466+2dup (n.466+2dup) c.-256+2dup (n.-256+2dup) | |
19 | g.12663702C>A | CA404252494 | MAN2B1 | c.763+1G>T (n.763+1G>T) n.745+1G>T c.466+1G>T (n.466+1G>T) c.-256+1G>T (n.-256+1G>T) | |
19 | g.12663702C>G | CA404252491 | MAN2B1 | c.763+1G>C (n.763+1G>C) n.745+1G>C c.466+1G>C (n.466+1G>C) c.-256+1G>C (n.-256+1G>C) | |
19 | g.12663702C>T | CA404252489 | MAN2B1 | c.763+1G>A (n.763+1G>A) n.745+1G>A c.466+1G>A (n.466+1G>A) c.-256+1G>A (n.-256+1G>A) | |
19 | g.12663703C>A | CA404252497 | MAN2B1 | c.763G>T (p.Gly255Cys) n.745G>T c.466G>T (p.Gly156Cys) c.-256G>T (n.-256G>T) | |
19 | g.12663703C>G | CA404252500 | MAN2B1 | c.763G>C (p.Gly255Arg) n.745G>C c.466G>C (p.Gly156Arg) c.-256G>C (n.-256G>C) | ClinVar |
19 | g.12663703C>T | CA404252503 | MAN2B1 | c.763G>A (p.Gly255Ser) n.745G>A c.466G>A (p.Gly156Ser) c.-256G>A (n.-256G>A) | |
19 | g.12663704A= | CA2323506873 | MAN2B1 | c.762T= (p.Thr254=) n.744T= c.465T= (p.Thr155=) c.-257T= (n.-257T=) | |
19 | g.12663704A>C | CA505625673 | MAN2B1 | c.762T>G (p.Thr254=) n.744T>G c.465T>G (p.Thr155=) c.-257T>G (n.-257T>G) | dbSNP |
19 | g.12663704A>G | CA505625674 | MAN2B1 | c.762T>C (p.Thr254=) n.744T>C c.465T>C (p.Thr155=) c.-257T>C (n.-257T>C) | ClinVar dbSNP gnomAD v4 |
19 | g.12663704A>T | CA505625675 | MAN2B1 | c.762T>A (p.Thr254=) n.744T>A c.465T>A (p.Thr155=) c.-257T>A (n.-257T>A) | |
19 | g.12663705G>A | CA9226720 | MAN2B1 | c.761C>T (p.Thr254Ile) n.743C>T c.464C>T (p.Thr155Ile) c.-258C>T (n.-258C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12663705G>C | CA404252507 | MAN2B1 | c.761C>G (p.Thr254Ser) n.743C>G c.464C>G (p.Thr155Ser) c.-258C>G (n.-258C>G) | |
19 | g.12663705G= | CA2323506874 | MAN2B1 | c.761C= (p.Thr254=) n.743C= c.464C= (p.Thr155=) c.-258C= (n.-258C=) | |
19 | g.12663705G>T | CA404252510 | MAN2B1 | c.761C>A (p.Thr254Asn) n.743C>A c.464C>A (p.Thr155Asn) c.-258C>A (n.-258C>A) | |
19 | g.12663706T>A | CA404252514 | MAN2B1 | c.760A>T (p.Thr254Ser) n.742A>T c.463A>T (p.Thr155Ser) c.-259A>T (n.-259A>T) | |
19 | g.12663706T>C | CA9226721 | MAN2B1 | c.760A>G (p.Thr254Ala) n.742A>G c.463A>G (p.Thr155Ala) c.-259A>G (n.-259A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12663706T>G | CA404252517 | MAN2B1 | c.760A>C (p.Thr254Pro) n.742A>C c.463A>C (p.Thr155Pro) c.-259A>C (n.-259A>C) | |
19 | g.12663706T= | CA2323506875 | MAN2B1 | c.760A= (p.Thr254=) n.742A= c.463A= (p.Thr155=) c.-259A= (n.-259A=) | |
19 | g.12663707G>A | CA505625676 | MAN2B1 | c.759C>T (p.Phe253=) n.741C>T c.462C>T (p.Phe154=) c.-260C>T (n.-260C>T) | |
19 | g.12663707G>C | CA404252522 | MAN2B1 | c.759C>G (p.Phe253Leu) n.741C>G c.462C>G (p.Phe154Leu) c.-260C>G (n.-260C>G) | |
19 | g.12663707G>T | CA404252525 | MAN2B1 | c.759C>A (p.Phe253Leu) n.741C>A c.462C>A (p.Phe154Leu) c.-260C>A (n.-260C>A) | |
19 | g.12663708A>C | CA404252528 | MAN2B1 | c.758T>G (p.Phe253Cys) n.740T>G c.461T>G (p.Phe154Cys) c.-261T>G (n.-261T>G) | |
19 | g.12663708A>G | CA404252531 | MAN2B1 | c.758T>C (p.Phe253Ser) n.740T>C c.461T>C (p.Phe154Ser) c.-261T>C (n.-261T>C) | |
19 | g.12663708A>T | CA404252532 | MAN2B1 | c.758T>A (p.Phe253Tyr) n.740T>A c.461T>A (p.Phe154Tyr) c.-261T>A (n.-261T>A) | |
19 | g.12663709A>C | CA404252536 | MAN2B1 | c.757T>G (p.Phe253Val) n.739T>G c.460T>G (p.Phe154Val) c.-262T>G (n.-262T>G) | |
19 | g.12663709A>G | CA404252538 | MAN2B1 | c.757T>C (p.Phe253Leu) n.739T>C c.460T>C (p.Phe154Leu) c.-262T>C (n.-262T>C) | |
19 | g.12663709A>T | CA404252541 | MAN2B1 | c.757T>A (p.Phe253Ile) n.739T>A c.460T>A (p.Phe154Ile) c.-262T>A (n.-262T>A) | |
19 | g.12663710G>A | CA505625677 | MAN2B1 | c.756C>T (p.Leu252=) n.738C>T c.459C>T (p.Leu153=) c.-263C>T (n.-263C>T) | |
19 | g.12663710G>C | CA505625678 | MAN2B1 | c.756C>G (p.Leu252=) n.738C>G c.459C>G (p.Leu153=) c.-263C>G (n.-263C>G) | |
19 | g.12663710G>T | CA505625679 | MAN2B1 | c.756C>A (p.Leu252=) n.738C>A c.459C>A (p.Leu153=) c.-263C>A (n.-263C>A) | |
19 | g.12663711A>C | CA404252545 | MAN2B1 | c.755T>G (p.Leu252Arg) n.737T>G c.458T>G (p.Leu153Arg) c.-264T>G (n.-264T>G) | |
19 | g.12663711A>G | CA404252548 | MAN2B1 | c.755T>C (p.Leu252Pro) n.737T>C c.458T>C (p.Leu153Pro) c.-264T>C (n.-264T>C) | |
19 | g.12663711A>T | CA404252549 | MAN2B1 | c.755T>A (p.Leu252His) n.737T>A c.458T>A (p.Leu153His) c.-264T>A (n.-264T>A) | |
19 | g.12663712G>A | CA404252553 | MAN2B1 | c.754C>T (p.Leu252Phe) n.736C>T c.457C>T (p.Leu153Phe) c.-265C>T (n.-265C>T) | |
19 | g.12663712G>C | CA404252557 | MAN2B1 | c.754C>G (p.Leu252Val) n.736C>G c.457C>G (p.Leu153Val) c.-265C>G (n.-265C>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.12663712G= | CA2323506876 | MAN2B1 | c.754C= (p.Leu252=) n.736C= c.457C= (p.Leu153=) c.-265C= (n.-265C=) | |
19 | g.12663712G>T | CA404252554 | MAN2B1 | c.754C>A (p.Leu252Ile) n.736C>A c.457C>A (p.Leu153Ile) c.-265C>A (n.-265C>A) | |
19 | g.12663713G>A | CA505625680 | MAN2B1 | c.753C>T (p.Asp251=) n.735C>T c.456C>T (p.Asp152=) c.-266C>T (n.-266C>T) | |
19 | g.12663713G>C | CA404252560 | MAN2B1 | c.753C>G (p.Asp251Glu) n.735C>G c.456C>G (p.Asp152Glu) c.-266C>G (n.-266C>G) | |
19 | g.12663713G>T | CA404252563 | MAN2B1 | c.753C>A (p.Asp251Glu) n.735C>A c.456C>A (p.Asp152Glu) c.-266C>A (n.-266C>A) | |
19 | g.12663714T>A | CA9226722 | MAN2B1 | c.752A>T (p.Asp251Val) n.734A>T c.455A>T (p.Asp152Val) c.-267A>T (n.-267A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12663714T>C | CA9226723 | MAN2B1 | c.752A>G (p.Asp251Gly) n.734A>G c.455A>G (p.Asp152Gly) c.-267A>G (n.-267A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12663714T>G | CA404252568 | MAN2B1 | c.752A>C (p.Asp251Ala) n.734A>C c.455A>C (p.Asp152Ala) c.-267A>C (n.-267A>C) | |
19 | g.12663714T= | CA2323506877 | MAN2B1 | c.752A= (p.Asp251=) n.734A= c.455A= (p.Asp152=) c.-267A= (n.-267A=) | |
19 | g.12663715C>A | CA404252571 | MAN2B1 | c.751G>T (p.Asp251Tyr) n.733G>T c.454G>T (p.Asp152Tyr) c.-268G>T (n.-268G>T) | |
19 | g.12663715C= | CA2323506878 | MAN2B1 | c.751G= (p.Asp251=) n.733G= c.454G= (p.Asp152=) c.-268G= (n.-268G=) | |
19 | g.12663715C>G | CA404252573 | MAN2B1 | c.751G>C (p.Asp251His) n.733G>C c.454G>C (p.Asp152His) c.-268G>C (n.-268G>C) | |
19 | g.12663715C>T | CA305477903 | MAN2B1 | c.751G>A (p.Asp251Asn) n.733G>A c.454G>A (p.Asp152Asn) c.-268G>A (n.-268G>A) | dbSNP |
19 | g.12663716C>A | CA505625681 | MAN2B1 | c.750G>T (p.Ala250=) n.732G>T c.453G>T (p.Ala151=) c.-269G>T (n.-269G>T) | |
19 | g.12663716C= | CA2323506879 | MAN2B1 | c.750G= (p.Ala250=) n.732G= c.453G= (p.Ala151=) c.-269G= (n.-269G=) | |
19 | g.12663716C>G | CA505625682 | MAN2B1 | c.750G>C (p.Ala250=) n.732G>C c.453G>C (p.Ala151=) c.-269G>C (n.-269G>C) | |
19 | g.12663716C>T | CA9226724 | MAN2B1 | c.750G>A (p.Ala250=) n.732G>A c.453G>A (p.Ala151=) c.-269G>A (n.-269G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.12663717G>A | CA9226725 | MAN2B1 | c.749C>T (p.Ala250Val) n.731C>T c.452C>T (p.Ala151Val) c.-270C>T (n.-270C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12663717G>C | CA404252580 | MAN2B1 | c.749C>G (p.Ala250Gly) n.731C>G c.452C>G (p.Ala151Gly) c.-270C>G (n.-270C>G) | |
19 | g.12663717G= | CA2323506880 | MAN2B1 | c.749C= (p.Ala250=) n.731C= c.452C= (p.Ala151=) c.-270C= (n.-270C=) | |
19 | g.12663717G>T | CA404252582 | MAN2B1 | c.749C>A (p.Ala250Glu) n.731C>A c.452C>A (p.Ala151Glu) c.-270C>A (n.-270C>A) | dbSNP gnomAD v2 |
19 | g.12663718C>A | CA9226726 | MAN2B1 | c.748G>T (p.Ala250Ser) n.730G>T c.451G>T (p.Ala151Ser) c.-271G>T (n.-271G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.12663718C= | CA2323506881 | MAN2B1 | c.748G= (p.Ala250=) n.730G= c.451G= (p.Ala151=) c.-271G= (n.-271G=) | |
19 | g.12663718C>G | CA404252585 | MAN2B1 | c.748G>C (p.Ala250Pro) n.730G>C c.451G>C (p.Ala151Pro) c.-271G>C (n.-271G>C) | |
19 | g.12663718C>T | CA9226727 | MAN2B1 | c.748G>A (p.Ala250Thr) n.730G>A c.451G>A (p.Ala151Thr) c.-271G>A (n.-271G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12663719G>A | CA203021 | MAN2B1 | c.747C>T (p.Thr249=) n.729C>T c.450C>T (p.Thr150=) c.-272C>T (n.-272C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12663719G>C | CA505625683 | MAN2B1 | c.747C>G (p.Thr249=) n.729C>G c.450C>G (p.Thr150=) c.-272C>G (n.-272C>G) | |
19 | g.12663719G= | CA2323506882 | MAN2B1 | c.747C= (p.Thr249=) n.729C= c.450C= (p.Thr150=) c.-272C= (n.-272C=) | |
19 | g.12663719G>T | CA505625684 | MAN2B1 | c.747C>A (p.Thr249=) n.729C>A c.450C>A (p.Thr150=) c.-272C>A (n.-272C>A) | |
19 | g.12663720G>A | CA404252591 | MAN2B1 | c.746C>T (p.Thr249Ile) n.728C>T c.449C>T (p.Thr150Ile) c.-273C>T (n.-273C>T) | gnomAD v4 |
19 | g.12663720G>C | CA404252592 | MAN2B1 | c.746C>G (p.Thr249Ser) n.728C>G c.449C>G (p.Thr150Ser) c.-273C>G (n.-273C>G) | |
19 | g.12663720G>T | CA404252595 | MAN2B1 | c.746C>A (p.Thr249Asn) n.728C>A c.449C>A (p.Thr150Asn) c.-273C>A (n.-273C>A) | gnomAD v4 |
19 | g.12663721T>A | CA404252599 | MAN2B1 | c.745A>T (p.Thr249Ser) n.727A>T c.448A>T (p.Thr150Ser) c.-274A>T (n.-274A>T) | |
19 | g.12663721T>C | CA404252601 | MAN2B1 | c.745A>G (p.Thr249Ala) n.727A>G c.448A>G (p.Thr150Ala) c.-274A>G (n.-274A>G) | |
19 | g.12663721T>G | CA404252602 | MAN2B1 | c.745A>C (p.Thr249Pro) n.727A>C c.448A>C (p.Thr150Pro) c.-274A>C (n.-274A>C) | |
19 | g.12663722C>A | CA505625685 | MAN2B1 | c.744G>T (p.Pro248=) n.726G>T c.447G>T (p.Pro149=) c.-275G>T (n.-275G>T) | |
19 | g.12663722C= | CA2323506883 | MAN2B1 | c.744G= (p.Pro248=) n.726G= c.447G= (p.Pro149=) c.-275G= (n.-275G=) | |
19 | g.12663722C>G | CA505625686 | MAN2B1 | c.744G>C (p.Pro248=) n.726G>C c.447G>C (p.Pro149=) c.-275G>C (n.-275G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12663722C>T | CA9226728 | MAN2B1 | c.744G>A (p.Pro248=) n.726G>A c.447G>A (p.Pro149=) c.-275G>A (n.-275G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12663723G>A | CA203023 | MAN2B1 | c.743C>T (p.Pro248Leu) n.725C>T c.446C>T (p.Pro149Leu) c.-276C>T (n.-276C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.12663723G>C | CA404252606 | MAN2B1 | c.743C>G (p.Pro248Arg) n.725C>G c.446C>G (p.Pro149Arg) c.-276C>G (n.-276C>G) | ClinVar dbSNP |
19 | g.12663723G= | CA2323506884 | MAN2B1 | c.743C= (p.Pro248=) n.725C= c.446C= (p.Pro149=) c.-276C= (n.-276C=) | |
19 | g.12663723G>T | CA404252607 | MAN2B1 | c.743C>A (p.Pro248Gln) n.725C>A c.446C>A (p.Pro149Gln) c.-276C>A (n.-276C>A) | |
19 | g.12663727dup | CA2832579028 | MAN2B1 | c.743dup (p.Thr249AspfsTer?) n.725dup c.446dup (p.Thr150AspfsTer?) c.-276dup (n.-276dup) | |
19 | g.12663727del | CA2582722135 | MAN2B1 | c.743del (p.Pro248ArgfsTer?) n.725del c.446del (p.Pro149ArgfsTer?) c.-276del (n.-276del) | gnomAD v4 |
19 | g.12663724G>A | CA404252613 | MAN2B1 | c.742C>T (p.Pro248Ser) n.724C>T c.445C>T (p.Pro149Ser) c.-277C>T (n.-277C>T) | COSMIC |
19 | g.12663724G>C | CA404252611 | MAN2B1 | c.742C>G (p.Pro248Ala) n.724C>G c.445C>G (p.Pro149Ala) c.-277C>G (n.-277C>G) | |
19 | g.12663724G>T | CA404252609 | MAN2B1 | c.742C>A (p.Pro248Thr) n.724C>A c.445C>A (p.Pro149Thr) c.-277C>A (n.-277C>A) | |
19 | g.12663725G>A | CA505625689 | MAN2B1 | c.741C>T (p.Pro247=) n.723C>T c.444C>T (p.Pro148=) c.-278C>T (n.-278C>T) | gnomAD v4 |
19 | g.12663725G>C | CA505625687 | MAN2B1 | c.741C>G (p.Pro247=) n.723C>G c.444C>G (p.Pro148=) c.-278C>G (n.-278C>G) | |
19 | g.12663725G>T | CA505625688 | MAN2B1 | c.741C>A (p.Pro247=) n.723C>A c.444C>A (p.Pro148=) c.-278C>A (n.-278C>A) | |
19 | g.12663726G>A | CA404252614 | MAN2B1 | c.740C>T (p.Pro247Leu) n.722C>T c.443C>T (p.Pro148Leu) c.-279C>T (n.-279C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.12663726G>C | CA404252615 | MAN2B1 | c.740C>G (p.Pro247Arg) n.722C>G c.443C>G (p.Pro148Arg) c.-279C>G (n.-279C>G) | |
19 | g.12663726G= | CA2323506885 | MAN2B1 | c.740C= (p.Pro247=) n.722C= c.443C= (p.Pro148=) c.-279C= (n.-279C=) | |
19 | g.12663726G>T | CA404252617 | MAN2B1 | c.740C>A (p.Pro247His) n.722C>A c.443C>A (p.Pro148His) c.-279C>A (n.-279C>A) | dbSNP gnomAD v4 |
19 | g.12663726_12663727insATCTTTA | CA2580096568 | MAN2B1 | c.739_740insTAAAGAT (p.Pro247LeufsTer?) n.721_722insTAAAGAT c.442_443insTAAAGAT (p.Pro148LeufsTer?) c.-280_-279insTAAAGAT (n.-280_-279insTAAAGAT) | ClinVar |
19 | g.12663727G>A | CA9226729 | MAN2B1 | c.739C>T (p.Pro247Ser) n.721C>T c.442C>T (p.Pro148Ser) c.-280C>T (n.-280C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12663727G>C | CA404252620 | MAN2B1 | c.739C>G (p.Pro247Ala) n.721C>G c.442C>G (p.Pro148Ala) c.-280C>G (n.-280C>G) | |
19 | g.12663727G= | CA2323506886 | MAN2B1 | c.739C= (p.Pro247=) n.721C= c.442C= (p.Pro148=) c.-280C= (n.-280C=) | |
19 | g.12663727G>T | CA404252621 | MAN2B1 | c.739C>A (p.Pro247Thr) n.721C>A c.442C>A (p.Pro148Thr) c.-280C>A (n.-280C>A) | gnomAD v4 |
19 | g.12663728C>A | CA404252625 | MAN2B1 | c.738G>T (p.Lys246Asn) n.720G>T c.441G>T (p.Lys147Asn) c.-281G>T (n.-281G>T) | |
19 | g.12663728C>G | CA404252623 | MAN2B1 | c.738G>C (p.Lys246Asn) n.720G>C c.441G>C (p.Lys147Asn) c.-281G>C (n.-281G>C) | |
19 | g.12663728C>T | CA505625690 | MAN2B1 | c.738G>A (p.Lys246=) n.720G>A c.441G>A (p.Lys147=) c.-281G>A (n.-281G>A) | |
19 | g.12663729T>A | CA404252628 | MAN2B1 | c.737A>T (p.Lys246Met) n.719A>T c.440A>T (p.Lys147Met) c.-282A>T (n.-282A>T) | |
19 | g.12663729T>C | CA404252629 | MAN2B1 | c.737A>G (p.Lys246Arg) n.719A>G c.440A>G (p.Lys147Arg) c.-282A>G (n.-282A>G) | |
19 | g.12663729T>G | CA404252631 | MAN2B1 | c.737A>C (p.Lys246Thr) n.719A>C c.440A>C (p.Lys147Thr) c.-282A>C (n.-282A>C) | |
19 | g.12663730T>A | CA404252634 | MAN2B1 | c.736A>T (p.Lys246Ter) n.718A>T c.439A>T (p.Lys147Ter) c.-283A>T (n.-283A>T) | |
19 | g.12663730T>C | CA404252636 | MAN2B1 | c.736A>G (p.Lys246Glu) n.718A>G c.439A>G (p.Lys147Glu) c.-283A>G (n.-283A>G) | |
19 | g.12663730T>G | CA404252638 | MAN2B1 | c.736A>C (p.Lys246Gln) n.718A>C c.439A>C (p.Lys147Gln) c.-283A>C (n.-283A>C) | |
19 | g.12663731C>A | CA505625691 | MAN2B1 | c.735G>T (p.Leu245=) n.717G>T c.438G>T (p.Leu146=) c.-284G>T (n.-284G>T) | |
19 | g.12663731C>G | CA505625692 | MAN2B1 | c.735G>C (p.Leu245=) n.717G>C c.438G>C (p.Leu146=) c.-284G>C (n.-284G>C) | |
19 | g.12663731C>T | CA505625693 | MAN2B1 | c.735G>A (p.Leu245=) n.717G>A c.438G>A (p.Leu146=) c.-284G>A (n.-284G>A) | |
19 | g.12663732A= | CA2323506887 | MAN2B1 | c.734T= (p.Leu245=) n.716T= c.437T= (p.Leu146=) c.-285T= (n.-285T=) | |
19 | g.12663732A>C | CA404252645 | MAN2B1 | c.734T>G (p.Leu245Arg) n.716T>G c.437T>G (p.Leu146Arg) c.-285T>G (n.-285T>G) | gnomAD v4 |
19 | g.12663732A>G | CA404252642 | MAN2B1 | c.734T>C (p.Leu245Pro) n.716T>C c.437T>C (p.Leu146Pro) c.-285T>C (n.-285T>C) | |
19 | g.12663732A>T | CA9226730 | MAN2B1 | c.734T>A (p.Leu245Gln) n.716T>A c.437T>A (p.Leu146Gln) c.-285T>A (n.-285T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12663733G>A | CA505625694 | MAN2B1 | c.733C>T (p.Leu245=) n.715C>T c.436C>T (p.Leu146=) c.-286C>T (n.-286C>T) | |
19 | g.12663733G>C | CA404252648 | MAN2B1 | c.733C>G (p.Leu245Val) n.715C>G c.436C>G (p.Leu146Val) c.-286C>G (n.-286C>G) | |
19 | g.12663733G>T | CA404252649 | MAN2B1 | c.733C>A (p.Leu245Met) n.715C>A c.436C>A (p.Leu146Met) c.-286C>A (n.-286C>A) | |
19 | g.12663734G>A | CA505625695 | MAN2B1 | c.732C>T (p.Ser244=) n.714C>T c.435C>T (p.Ser145=) c.-287C>T (n.-287C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12663734G>C | CA404252650 | MAN2B1 | c.732C>G (p.Ser244Arg) n.714C>G c.435C>G (p.Ser145Arg) c.-287C>G (n.-287C>G) | gnomAD v4 |
19 | g.12663734G= | CA2323506888 | MAN2B1 | c.732C= (p.Ser244=) n.714C= c.435C= (p.Ser145=) c.-287C= (n.-287C=) | |
19 | g.12663734G>T | CA404252651 | MAN2B1 | c.732C>A (p.Ser244Arg) n.714C>A c.435C>A (p.Ser145Arg) c.-287C>A (n.-287C>A) | |
19 | g.12663735C>A | CA404252652 | MAN2B1 | c.731G>T (p.Ser244Ile) n.713G>T c.434G>T (p.Ser145Ile) c.-288G>T (n.-288G>T) | gnomAD v4 |
19 | g.12663735C>G | CA404252654 | MAN2B1 | c.731G>C (p.Ser244Thr) n.713G>C c.434G>C (p.Ser145Thr) c.-288G>C (n.-288G>C) | |
19 | g.12663735C>T | CA404252655 | MAN2B1 | c.731G>A (p.Ser244Asn) n.713G>A c.434G>A (p.Ser145Asn) c.-288G>A (n.-288G>A) | |
19 | g.12663736T>A | CA404252657 | MAN2B1 | c.730A>T (p.Ser244Cys) n.712A>T c.433A>T (p.Ser145Cys) c.-289A>T (n.-289A>T) | |
19 | g.12663736T>C | CA404252660 | MAN2B1 | c.730A>G (p.Ser244Gly) n.712A>G c.433A>G (p.Ser145Gly) c.-289A>G (n.-289A>G) | |
19 | g.12663736T>G | CA404252662 | MAN2B1 | c.730A>C (p.Ser244Arg) n.712A>C c.433A>C (p.Ser145Arg) c.-289A>C (n.-289A>C) | |
19 | g.12663736T= | CA2323506889 | MAN2B1 | c.730A= (p.Ser244=) n.712A= c.433A= (p.Ser145=) c.-289A= (n.-289A=) | |
19 | g.12663736_12663737insAA | CA891863000 | MAN2B1 | c.729_730insTT (p.Ser244LeufsTer3) n.711_712insTT c.432_433insTT (p.Ser145LeufsTer3) c.-290_-289insTT (n.-290_-289insTT) | ClinVar dbSNP |
19 | g.12663737G>A | CA505625696 | MAN2B1 | c.729C>T (p.Thr243=) n.711C>T c.432C>T (p.Thr144=) c.-290C>T (n.-290C>T) | ClinVar dbSNP COSMIC |
19 | g.12663737G>C | CA505625697 | MAN2B1 | c.729C>G (p.Thr243=) n.711C>G c.432C>G (p.Thr144=) c.-290C>G (n.-290C>G) | |
19 | g.12663737G>T | CA505625698 | MAN2B1 | c.729C>A (p.Thr243=) n.711C>A c.432C>A (p.Thr144=) c.-290C>A (n.-290C>A) | |
19 | g.12663738G>A | CA404252664 | MAN2B1 | c.728C>T (p.Thr243Ile) n.710C>T c.431C>T (p.Thr144Ile) c.-291C>T (n.-291C>T) | gnomAD v4 |
19 | g.12663738G>C | CA404252667 | MAN2B1 | c.728C>G (p.Thr243Ser) n.710C>G c.431C>G (p.Thr144Ser) c.-291C>G (n.-291C>G) | |
19 | g.12663738G>T | CA404252668 | MAN2B1 | c.728C>A (p.Thr243Asn) n.710C>A c.431C>A (p.Thr144Asn) c.-291C>A (n.-291C>A) | |
19 | g.12663738_12663739delinsGT | CA2323506890 | MAN2B1 | c.727_728delinsAC (p.Thr243=) n.709_710delinsAC c.430_431delinsAC (p.Thr144=) c.-292_-291delinsAC (n.-292_-291delinsAC) | |
19 | g.12663739del | CA783353195 | MAN2B1 | c.727del (p.Thr243ProfsTer3) n.709del c.430del (p.Thr144ProfsTer3) c.-292del (n.-292del) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.12663739T>A | CA404252674 | MAN2B1 | c.727A>T (p.Thr243Ser) n.709A>T c.430A>T (p.Thr144Ser) c.-292A>T (n.-292A>T) | |
19 | g.12663739T>C | CA404252670 | MAN2B1 | c.727A>G (p.Thr243Ala) n.709A>G c.430A>G (p.Thr144Ala) c.-292A>G (n.-292A>G) | gnomAD v4 |
19 | g.12663739T>G | CA404252672 | MAN2B1 | c.727A>C (p.Thr243Pro) n.709A>C c.430A>C (p.Thr144Pro) c.-292A>C (n.-292A>C) | |
19 | g.12663740G>A | CA505625699 | MAN2B1 | c.726C>T (p.Ser242=) n.708C>T c.429C>T (p.Ser143=) c.-293C>T (n.-293C>T) | |
19 | g.12663740G>C | CA404252676 | MAN2B1 | c.726C>G (p.Ser242Arg) n.708C>G c.429C>G (p.Ser143Arg) c.-293C>G (n.-293C>G) | |
19 | g.12663740G>T | CA404252677 | MAN2B1 | c.726C>A (p.Ser242Arg) n.708C>A c.429C>A (p.Ser143Arg) c.-293C>A (n.-293C>A) | |
19 | g.12663741C>A | CA404252680 | MAN2B1 | c.725G>T (p.Ser242Ile) n.707G>T c.428G>T (p.Ser143Ile) c.-294G>T (n.-294G>T) | |
19 | g.12663741C>G | CA404252683 | MAN2B1 | c.725G>C (p.Ser242Thr) n.707G>C c.428G>C (p.Ser143Thr) c.-294G>C (n.-294G>C) | |
19 | g.12663741C>T | CA404252685 | MAN2B1 | c.725G>A (p.Ser242Asn) n.707G>A c.428G>A (p.Ser143Asn) c.-294G>A (n.-294G>A) | |
19 | g.12663742T>A | CA404252692 | MAN2B1 | c.724A>T (p.Ser242Cys) n.706A>T c.427A>T (p.Ser143Cys) c.-295A>T (n.-295A>T) | |
19 | g.12663742T>C | CA404252690 | MAN2B1 | c.724A>G (p.Ser242Gly) n.706A>G c.427A>G (p.Ser143Gly) c.-295A>G (n.-295A>G) | |
19 | g.12663742T>G | CA404252688 | MAN2B1 | c.724A>C (p.Ser242Arg) n.706A>C c.427A>C (p.Ser143Arg) c.-295A>C (n.-295A>C) | |
19 | g.12663743G>A | CA505625702 | MAN2B1 | c.723C>T (p.Ala241=) n.705C>T c.426C>T (p.Ala142=) c.-296C>T (n.-296C>T) | gnomAD v4 |
19 | g.12663743G>C | CA505625701 | MAN2B1 | c.723C>G (p.Ala241=) n.705C>G c.426C>G (p.Ala142=) c.-296C>G (n.-296C>G) | |
19 | g.12663743G>T | CA505625700 | MAN2B1 | c.723C>A (p.Ala241=) n.705C>A c.426C>A (p.Ala142=) c.-296C>A (n.-296C>A) | |
19 | g.12663744G>A | CA404252695 | MAN2B1 | c.722C>T (p.Ala241Val) n.704C>T c.425C>T (p.Ala142Val) c.-297C>T (n.-297C>T) | |
19 | g.12663744G>C | CA404252698 | MAN2B1 | c.722C>G (p.Ala241Gly) n.704C>G c.425C>G (p.Ala142Gly) c.-297C>G (n.-297C>G) | gnomAD v4 |
19 | g.12663744G>T | CA404252700 | MAN2B1 | c.722C>A (p.Ala241Asp) n.704C>A c.425C>A (p.Ala142Asp) c.-297C>A (n.-297C>A) | |
19 | g.12663745C>A | CA404252704 | MAN2B1 | c.721G>T (p.Ala241Ser) n.703G>T c.424G>T (p.Ala142Ser) c.-298G>T (n.-298G>T) | gnomAD v4 |
19 | g.12663745C>G | CA404252705 | MAN2B1 | c.721G>C (p.Ala241Pro) n.703G>C c.424G>C (p.Ala142Pro) c.-298G>C (n.-298G>C) | |
19 | g.12663745C>T | CA404252708 | MAN2B1 | c.721G>A (p.Ala241Thr) n.703G>A c.424G>A (p.Ala142Thr) c.-298G>A (n.-298G>A) | |
19 | g.12663746C>A | CA505625703 | MAN2B1 | c.720G>T (p.Arg240=) n.702G>T c.423G>T (p.Arg141=) c.-299G>T (n.-299G>T) | |
19 | g.12663746C= | CA2323506891 | MAN2B1 | c.720G= (p.Arg240=) n.702G= c.423G= (p.Arg141=) c.-299G= (n.-299G=) | |
19 | g.12663746C>G | CA505625704 | MAN2B1 | c.720G>C (p.Arg240=) n.702G>C c.423G>C (p.Arg141=) c.-299G>C (n.-299G>C) | |
19 | g.12663746C>T | CA505625705 | MAN2B1 | c.720G>A (p.Arg240=) n.702G>A c.423G>A (p.Arg141=) c.-299G>A (n.-299G>A) | dbSNP |
19 | g.12663747C>A | CA404252711 | MAN2B1 | c.719G>T (p.Arg240Leu) n.701G>T c.422G>T (p.Arg141Leu) c.-300G>T (n.-300G>T) | |
19 | g.12663747C= | CA2323506892 | MAN2B1 | c.719G= (p.Arg240=) n.701G= c.422G= (p.Arg141=) c.-300G= (n.-300G=) | |
19 | g.12663747C>G | CA404252713 | MAN2B1 | c.719G>C (p.Arg240Pro) n.701G>C c.422G>C (p.Arg141Pro) c.-300G>C (n.-300G>C) | |
19 | g.12663747C>T | CA9226731 | MAN2B1 | c.719G>A (p.Arg240Gln) n.701G>A c.422G>A (p.Arg141Gln) c.-300G>A (n.-300G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.12663748G>A | CA9226732 | MAN2B1 | c.718C>T (p.Arg240Trp) n.700C>T c.421C>T (p.Arg141Trp) c.-301C>T (n.-301C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12663748G>C | CA404252717 | MAN2B1 | c.718C>G (p.Arg240Gly) n.700C>G c.421C>G (p.Arg141Gly) c.-301C>G (n.-301C>G) | gnomAD v4 |
19 | g.12663748G= | CA2323506893 | MAN2B1 | c.718C= (p.Arg240=) n.700C= c.421C= (p.Arg141=) c.-301C= (n.-301C=) | |
19 | g.12663748G>T | CA505625706 | MAN2B1 | c.718C>A (p.Arg240=) n.700C>A c.421C>A (p.Arg141=) c.-301C>A (n.-301C>A) | |
19 | g.12663749C>A | CA404252719 | MAN2B1 | c.717G>T (p.Trp239Cys) n.699G>T c.420G>T (p.Trp140Cys) c.-302G>T (n.-302G>T) | |
19 | g.12663749C>G | CA404252721 | MAN2B1 | c.717G>C (p.Trp239Cys) n.699G>C c.420G>C (p.Trp140Cys) c.-302G>C (n.-302G>C) | |
19 | g.12663749C>T | CA404252723 | MAN2B1 | c.717G>A (p.Trp239Ter) n.699G>A c.420G>A (p.Trp140Ter) c.-302G>A (n.-302G>A) | |
19 | g.12663750C>A | CA404252724 | MAN2B1 | c.716G>T (p.Trp239Leu) n.698G>T c.419G>T (p.Trp140Leu) c.-303G>T (n.-303G>T) | |
19 | g.12663750C>G | CA404252727 | MAN2B1 | c.716G>C (p.Trp239Ser) n.698G>C c.419G>C (p.Trp140Ser) c.-303G>C (n.-303G>C) | |
19 | g.12663750C>T | CA404252728 | MAN2B1 | c.716G>A (p.Trp239Ter) n.698G>A c.419G>A (p.Trp140Ter) c.-303G>A (n.-303G>A) | |
19 | g.12663751A= | CA2323506894 | MAN2B1 | c.715T= (p.Trp239=) n.697T= c.418T= (p.Trp140=) c.-304T= (n.-304T=) | |
19 | g.12663751A>C | CA404252731 | MAN2B1 | c.715T>G (p.Trp239Gly) n.697T>G c.418T>G (p.Trp140Gly) c.-304T>G (n.-304T>G) | dbSNP |
19 | g.12663751A>G | CA404252733 | MAN2B1 | c.715T>C (p.Trp239Arg) n.697T>C c.418T>C (p.Trp140Arg) c.-304T>C (n.-304T>C) | |
19 | g.12663751A>T | CA404252736 | MAN2B1 | c.715T>A (p.Trp239Arg) n.697T>A c.418T>A (p.Trp140Arg) c.-304T>A (n.-304T>A) | |
19 | g.12663752C>A | CA505625707 | MAN2B1 | c.714G>T (p.Val238=) n.696G>T c.417G>T (p.Val139=) c.-305G>T (n.-305G>T) | |
19 | g.12663752C>G | CA505625708 | MAN2B1 | c.714G>C (p.Val238=) n.696G>C c.417G>C (p.Val139=) c.-305G>C (n.-305G>C) | |
19 | g.12663752C>T | CA505625709 | MAN2B1 | c.714G>A (p.Val238=) n.696G>A c.417G>A (p.Val139=) c.-305G>A (n.-305G>A) | |
19 | g.12663753A>C | CA404252743 | MAN2B1 | c.713T>G (p.Val238Gly) n.695T>G c.416T>G (p.Val139Gly) c.-306T>G (n.-306T>G) | |
19 | g.12663753A>G | CA404252739 | MAN2B1 | c.713T>C (p.Val238Ala) n.695T>C c.416T>C (p.Val139Ala) c.-306T>C (n.-306T>C) | |
19 | g.12663753A>T | CA404252741 | MAN2B1 | c.713T>A (p.Val238Glu) n.695T>A c.416T>A (p.Val139Glu) c.-306T>A (n.-306T>A) | |
19 | g.12663754C>A | CA404252746 | MAN2B1 | c.712G>T (p.Val238Leu) n.694G>T c.415G>T (p.Val139Leu) c.-307G>T (n.-307G>T) | dbSNP |
19 | g.12663754C= | CA2323506895 | MAN2B1 | c.712G= (p.Val238=) n.694G= c.415G= (p.Val139=) c.-307G= (n.-307G=) | |
19 | g.12663754C>G | CA404252748 | MAN2B1 | c.712G>C (p.Val238Leu) n.694G>C c.415G>C (p.Val139Leu) c.-307G>C (n.-307G>C) | |
19 | g.12663754C>T | CA404252751 | MAN2B1 | c.712G>A (p.Val238Met) n.694G>A c.415G>A (p.Val139Met) c.-307G>A (n.-307G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.12663755C>A | CA404252755 | MAN2B1 | c.711G>T (p.Gln237His) n.693G>T c.414G>T (p.Gln138His) c.-308G>T (n.-308G>T) | |
19 | g.12663755C>G | CA404252756 | MAN2B1 | c.711G>C (p.Gln237His) n.693G>C c.414G>C (p.Gln138His) c.-308G>C (n.-308G>C) | |
19 | g.12663755C>T | CA505625710 | MAN2B1 | c.711G>A (p.Gln237=) n.693G>A c.414G>A (p.Gln138=) c.-308G>A (n.-308G>A) | |
19 | g.12663756T>A | CA404252758 | MAN2B1 | c.710A>T (p.Gln237Leu) n.692A>T c.413A>T (p.Gln138Leu) c.-309A>T (n.-309A>T) | |
19 | g.12663756T>C | CA404252761 | MAN2B1 | c.710A>G (p.Gln237Arg) n.692A>G c.413A>G (p.Gln138Arg) c.-309A>G (n.-309A>G) | |
19 | g.12663756T>G | CA404252764 | MAN2B1 | c.710A>C (p.Gln237Pro) n.692A>C c.413A>C (p.Gln138Pro) c.-309A>C (n.-309A>C) | |
19 | g.12663757G>A | CA404252768 | MAN2B1 | c.709C>T (p.Gln237Ter) n.691C>T c.412C>T (p.Gln138Ter) c.-310C>T (n.-310C>T) | |
19 | g.12663757G>C | CA404252769 | MAN2B1 | c.709C>G (p.Gln237Glu) n.691C>G c.412C>G (p.Gln138Glu) c.-310C>G (n.-310C>G) | |
19 | g.12663757G>T | CA404252771 | MAN2B1 | c.709C>A (p.Gln237Lys) n.691C>A c.412C>A (p.Gln138Lys) c.-310C>A (n.-310C>A) | |
19 | g.12663758C>A | CA404252773 | MAN2B1 | c.708G>T (p.Glu236Asp) n.690G>T c.411G>T (p.Glu137Asp) c.-311G>T (n.-311G>T) | gnomAD v4 |
19 | g.12663758C= | CA2323506896 | MAN2B1 | c.708G= (p.Glu236=) n.690G= c.411G= (p.Glu137=) c.-311G= (n.-311G=) | |
19 | g.12663758C>G | CA404252775 | MAN2B1 | c.708G>C (p.Glu236Asp) n.690G>C c.411G>C (p.Glu137Asp) c.-311G>C (n.-311G>C) | dbSNP gnomAD v4 |
19 | g.12663758C>T | CA505625711 | MAN2B1 | c.708G>A (p.Glu236=) n.690G>A c.411G>A (p.Glu137=) c.-311G>A (n.-311G>A) | ClinVar dbSNP gnomAD v4 |
19 | g.12663759T>A | CA404252784 | MAN2B1 | c.707A>T (p.Glu236Val) n.689A>T c.410A>T (p.Glu137Val) c.-312A>T (n.-312A>T) | |
19 | g.12663759T>C | CA404252781 | MAN2B1 | c.707A>G (p.Glu236Gly) n.689A>G c.410A>G (p.Glu137Gly) c.-312A>G (n.-312A>G) | |
19 | g.12663759T>G | CA404252778 | MAN2B1 | c.707A>C (p.Glu236Ala) n.689A>C c.410A>C (p.Glu137Ala) c.-312A>C (n.-312A>C) | |
19 | g.12663760C>A | CA404252786 | MAN2B1 | c.706G>T (p.Glu236Ter) n.688G>T c.409G>T (p.Glu137Ter) c.-313G>T (n.-313G>T) | |
19 | g.12663760C= | CA2323506897 | MAN2B1 | c.706G= (p.Glu236=) n.688G= c.409G= (p.Glu137=) c.-313G= (n.-313G=) | |
19 | g.12663760C>G | CA404252787 | MAN2B1 | c.706G>C (p.Glu236Gln) n.688G>C c.409G>C (p.Glu137Gln) c.-313G>C (n.-313G>C) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.12663760C>T | CA404252788 | MAN2B1 | c.706G>A (p.Glu236Lys) n.688G>A c.409G>A (p.Glu137Lys) c.-313G>A (n.-313G>A) | |
19 | g.12663761C>A | CA404252789 | MAN2B1 | c.705G>T (p.Met235Ile) n.687G>T c.408G>T (p.Met136Ile) c.-314G>T (n.-314G>T) | |
19 | g.12663761C>G | CA404252791 | MAN2B1 | c.705G>C (p.Met235Ile) n.687G>C c.408G>C (p.Met136Ile) c.-314G>C (n.-314G>C) | |
19 | g.12663761C>T | CA404252793 | MAN2B1 | c.705G>A (p.Met235Ile) n.687G>A c.408G>A (p.Met136Ile) c.-314G>A (n.-314G>A) | gnomAD v4 |
19 | g.12663762A>C | CA404252795 | MAN2B1 | c.704T>G (p.Met235Arg) n.686T>G c.407T>G (p.Met136Arg) c.-315T>G (n.-315T>G) | |
19 | g.12663762A>G | CA404252798 | MAN2B1 | c.704T>C (p.Met235Thr) n.686T>C c.407T>C (p.Met136Thr) c.-315T>C (n.-315T>C) | |
19 | g.12663762A>T | CA404252800 | MAN2B1 | c.704T>A (p.Met235Lys) n.686T>A c.407T>A (p.Met136Lys) c.-315T>A (n.-315T>A) | |
19 | g.12663763T>A | CA404252803 | MAN2B1 | c.703A>T (p.Met235Leu) n.685A>T c.406A>T (p.Met136Leu) c.-316A>T (n.-316A>T) | |
19 | g.12663763T>C | CA404252806 | MAN2B1 | c.703A>G (p.Met235Val) n.685A>G c.406A>G (p.Met136Val) c.-316A>G (n.-316A>G) | |
19 | g.12663763T>G | CA404252808 | MAN2B1 | c.703A>C (p.Met235Leu) n.685A>C c.406A>C (p.Met136Leu) c.-316A>C (n.-316A>C) | |
19 | g.12663764C>A | CA404252811 | MAN2B1 | c.702G>T (p.Glu234Asp) n.684G>T c.405G>T (p.Glu135Asp) c.-317G>T (n.-317G>T) | |
19 | g.12663764C= | CA2323506898 | MAN2B1 | c.702G= (p.Glu234=) n.684G= c.405G= (p.Glu135=) c.-317G= (n.-317G=) | |
19 | g.12663764C>G | CA404252813 | MAN2B1 | c.702G>C (p.Glu234Asp) n.684G>C c.405G>C (p.Glu135Asp) c.-317G>C (n.-317G>C) | dbSNP |
19 | g.12663764C>T | CA505625712 | MAN2B1 | c.702G>A (p.Glu234=) n.684G>A c.405G>A (p.Glu135=) c.-317G>A (n.-317G>A) | gnomAD v4 |
19 | g.12663765T>A | CA404252824 | MAN2B1 | c.701A>T (p.Glu234Val) n.683A>T c.404A>T (p.Glu135Val) c.-318A>T (n.-318A>T) | gnomAD v4 |
19 | g.12663765T>C | CA404252826 | MAN2B1 | c.701A>G (p.Glu234Gly) n.683A>G c.404A>G (p.Glu135Gly) c.-318A>G (n.-318A>G) | |
19 | g.12663765T>G | CA404252818 | MAN2B1 | c.701A>C (p.Glu234Ala) n.683A>C c.404A>C (p.Glu135Ala) c.-318A>C (n.-318A>C) | |
19 | g.12663766C>A | CA404252829 | MAN2B1 | c.700G>T (p.Glu234Ter) n.682G>T c.403G>T (p.Glu135Ter) c.-319G>T (n.-319G>T) | |
19 | g.12663766C>G | CA404252830 | MAN2B1 | c.700G>C (p.Glu234Gln) n.682G>C c.403G>C (p.Glu135Gln) c.-319G>C (n.-319G>C) | |
19 | g.12663766C>T | CA404252832 | MAN2B1 | c.700G>A (p.Glu234Lys) n.682G>A c.403G>A (p.Glu135Lys) c.-319G>A (n.-319G>A) | |
19 | g.12663767C>A | CA505625713 | MAN2B1 | c.699G>T (p.Leu233=) n.681G>T c.402G>T (p.Leu134=) c.-320G>T (n.-320G>T) | |
19 | g.12663767C>G | CA505625714 | MAN2B1 | c.699G>C (p.Leu233=) n.681G>C c.402G>C (p.Leu134=) c.-320G>C (n.-320G>C) | |
19 | g.12663767C>T | CA505625715 | MAN2B1 | c.699G>A (p.Leu233=) n.681G>A c.402G>A (p.Leu134=) c.-320G>A (n.-320G>A) | |
19 | g.12663768A= | CA2323506899 | MAN2B1 | c.698T= (p.Leu233=) n.680T= c.401T= (p.Leu134=) c.-321T= (n.-321T=) | |
19 | g.12663768A>C | CA404252835 | MAN2B1 | c.698T>G (p.Leu233Arg) n.680T>G c.401T>G (p.Leu134Arg) c.-321T>G (n.-321T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12663768A>G | CA404252836 | MAN2B1 | c.698T>C (p.Leu233Pro) n.680T>C c.401T>C (p.Leu134Pro) c.-321T>C (n.-321T>C) | gnomAD v4 |
19 | g.12663768A>T | CA404252838 | MAN2B1 | c.698T>A (p.Leu233Gln) n.680T>A c.401T>A (p.Leu134Gln) c.-321T>A (n.-321T>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.12663769G>A | CA505625716 | MAN2B1 | c.697C>T (p.Leu233=) n.679C>T c.400C>T (p.Leu134=) c.-322C>T (n.-322C>T) | ClinVar |
19 | g.12663769G>C | CA404252841 | MAN2B1 | c.697C>G (p.Leu233Val) n.679C>G c.400C>G (p.Leu134Val) c.-322C>G (n.-322C>G) | gnomAD v4 |
19 | g.12663769G>T | CA404252843 | MAN2B1 | c.697C>A (p.Leu233Met) n.679C>A c.400C>A (p.Leu134Met) c.-322C>A (n.-322C>A) | |
19 | g.12663770C>A | CA404252845 | MAN2B1 | c.696G>T (p.Lys232Asn) n.678G>T c.399G>T (p.Lys133Asn) c.-323G>T (n.-323G>T) | |
19 | g.12663770C>G | CA404252847 | MAN2B1 | c.696G>C (p.Lys232Asn) n.678G>C c.399G>C (p.Lys133Asn) c.-323G>C (n.-323G>C) | |
19 | g.12663770C>T | CA505625717 | MAN2B1 | c.696G>A (p.Lys232=) n.678G>A c.399G>A (p.Lys133=) c.-323G>A (n.-323G>A) | gnomAD v4 |
19 | g.12663771T>A | CA404252849 | MAN2B1 | c.695A>T (p.Lys232Met) n.677A>T c.398A>T (p.Lys133Met) c.-324A>T (n.-324A>T) | |
19 | g.12663771T>C | CA404252851 | MAN2B1 | c.695A>G (p.Lys232Arg) n.677A>G c.398A>G (p.Lys133Arg) c.-324A>G (n.-324A>G) | |
19 | g.12663771T>G | CA404252853 | MAN2B1 | c.695A>C (p.Lys232Thr) n.677A>C c.398A>C (p.Lys133Thr) c.-324A>C (n.-324A>C) | |
19 | g.12663772T>A | CA404252860 | MAN2B1 | c.694A>T (p.Lys232Ter) n.676A>T c.397A>T (p.Lys133Ter) c.-325A>T (n.-325A>T) | |
19 | g.12663772T>C | CA404252856 | MAN2B1 | c.694A>G (p.Lys232Glu) n.676A>G c.397A>G (p.Lys133Glu) c.-325A>G (n.-325A>G) | gnomAD v4 |
19 | g.12663772T>G | CA404252858 | MAN2B1 | c.694A>C (p.Lys232Gln) n.676A>C c.397A>C (p.Lys133Gln) c.-325A>C (n.-325A>C) | |
19 | g.12663773C>A | CA404252861 | MAN2B1 | c.693G>T (p.Gln231His) n.675G>T c.396G>T (p.Gln132His) c.-326G>T (n.-326G>T) | |
19 | g.12663773C>G | CA404252863 | MAN2B1 | c.693G>C (p.Gln231His) n.675G>C c.396G>C (p.Gln132His) c.-326G>C (n.-326G>C) | |
19 | g.12663773C>T | CA505625718 | MAN2B1 | c.693G>A (p.Gln231=) n.675G>A c.396G>A (p.Gln132=) c.-326G>A (n.-326G>A) | |
19 | g.12663774T>A | CA404252865 | MAN2B1 | c.692A>T (p.Gln231Leu) n.674A>T c.395A>T (p.Gln132Leu) c.-327A>T (n.-327A>T) | |
19 | g.12663774T>C | CA404252867 | MAN2B1 | c.692A>G (p.Gln231Arg) n.674A>G c.395A>G (p.Gln132Arg) c.-327A>G (n.-327A>G) | |
19 | g.12663774T>G | CA404252869 | MAN2B1 | c.692A>C (p.Gln231Pro) n.674A>C c.395A>C (p.Gln132Pro) c.-327A>C (n.-327A>C) | |
19 | g.12663775G>A | CA404252872 | MAN2B1 | c.691C>T (p.Gln231Ter) n.673C>T c.394C>T (p.Gln132Ter) c.-328C>T (n.-328C>T) | |
19 | g.12663775G>C | CA404252873 | MAN2B1 | c.691C>G (p.Gln231Glu) n.673C>G c.394C>G (p.Gln132Glu) c.-328C>G (n.-328C>G) | |
19 | g.12663775G>T | CA404252874 | MAN2B1 | c.691C>A (p.Gln231Lys) n.673C>A c.394C>A (p.Gln132Lys) c.-328C>A (n.-328C>A) | |
19 | g.12663776C>A | CA404252877 | MAN2B1 | c.690G>T (p.Met230Ile) n.672G>T c.393G>T (p.Met131Ile) c.-329G>T (n.-329G>T) | |
19 | g.12663776C= | CA2323506900 | MAN2B1 | c.690G= (p.Met230=) n.672G= c.393G= (p.Met131=) c.-329G= (n.-329G=) | |
19 | g.12663776C>G | CA404252879 | MAN2B1 | c.690G>C (p.Met230Ile) n.672G>C c.393G>C (p.Met131Ile) c.-329G>C (n.-329G>C) | |
19 | g.12663776C>T | CA404252880 | MAN2B1 | c.690G>A (p.Met230Ile) n.672G>A c.393G>A (p.Met131Ile) c.-329G>A (n.-329G>A) | dbSNP |
19 | g.12663777A= | CA2323506901 | MAN2B1 | c.689T= (p.Met230=) n.671T= c.392T= (p.Met131=) c.-330T= (n.-330T=) | |
19 | g.12663777A>C | CA404252883 | MAN2B1 | c.689T>G (p.Met230Arg) n.671T>G c.392T>G (p.Met131Arg) c.-330T>G (n.-330T>G) | |
19 | g.12663777A>G | CA404252886 | MAN2B1 | c.689T>C (p.Met230Thr) n.671T>C c.392T>C (p.Met131Thr) c.-330T>C (n.-330T>C) | |
19 | g.12663777A>T | CA305477972 | MAN2B1 | c.689T>A (p.Met230Lys) n.671T>A c.392T>A (p.Met131Lys) c.-330T>A (n.-330T>A) | dbSNP |
19 | g.12663778T>A | CA404252889 | MAN2B1 | c.688A>T (p.Met230Leu) n.670A>T c.391A>T (p.Met131Leu) c.-331A>T (n.-331A>T) | |
19 | g.12663778T>C | CA404252892 | MAN2B1 | c.688A>G (p.Met230Val) n.670A>G c.391A>G (p.Met131Val) c.-331A>G (n.-331A>G) | |
19 | g.12663778T>G | CA404252890 | MAN2B1 | c.688A>C (p.Met230Leu) n.670A>C c.391A>C (p.Met131Leu) c.-331A>C (n.-331A>C) | |
19 | g.12663779C>A | CA505625719 | MAN2B1 | c.687G>T (p.Arg229=) n.669G>T c.390G>T (p.Arg130=) c.-332G>T (n.-332G>T) | |
19 | g.12663779C= | CA2323506902 | MAN2B1 | c.687G= (p.Arg229=) n.669G= c.390G= (p.Arg130=) c.-332G= (n.-332G=) | |
19 | g.12663779C>G | CA505625720 | MAN2B1 | c.687G>C (p.Arg229=) n.669G>C c.390G>C (p.Arg130=) c.-332G>C (n.-332G>C) | |
19 | g.12663779C>T | CA505625721 | MAN2B1 | c.687G>A (p.Arg229=) n.669G>A c.390G>A (p.Arg130=) c.-332G>A (n.-332G>A) | ClinVar dbSNP gnomAD v4 |
19 | g.12663780C>A | CA404252895 | MAN2B1 | c.686G>T (p.Arg229Leu) n.668G>T c.389G>T (p.Arg130Leu) c.-333G>T (n.-333G>T) | ClinVar dbSNP |
19 | g.12663780C= | CA2323506903 | MAN2B1 | c.686G= (p.Arg229=) n.668G= c.389G= (p.Arg130=) c.-333G= (n.-333G=) | |
19 | g.12663780C>G | CA404252897 | MAN2B1 | c.686G>C (p.Arg229Pro) n.668G>C c.389G>C (p.Arg130Pro) c.-333G>C (n.-333G>C) | |
19 | g.12663780C>T | CA9226733 | MAN2B1 | c.686G>A (p.Arg229Gln) n.668G>A c.389G>A (p.Arg130Gln) c.-333G>A (n.-333G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12663781G>A | CA350933 | MAN2B1 | c.685C>T (p.Arg229Trp) n.667C>T c.388C>T (p.Arg130Trp) c.-334C>T (n.-334C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12663781G>C | CA404252900 | MAN2B1 | c.685C>G (p.Arg229Gly) n.667C>G c.388C>G (p.Arg130Gly) c.-334C>G (n.-334C>G) | |
19 | g.12663781G= | CA2323506904 | MAN2B1 | c.685C= (p.Arg229=) n.667C= c.388C= (p.Arg130=) c.-334C= (n.-334C=) | |
19 | g.12663781G>T | CA505625722 | MAN2B1 | c.685C>A (p.Arg229=) n.667C>A c.388C>A (p.Arg130=) c.-334C>A (n.-334C>A) | |
19 | g.12663782T>A | CA505625723 | MAN2B1 | c.684A>T (p.Val228=) n.666A>T c.387A>T (p.Val129=) c.-335A>T (n.-335A>T) | |
19 | g.12663782T>C | CA505625724 | MAN2B1 | c.684A>G (p.Val228=) n.666A>G c.387A>G (p.Val129=) c.-335A>G (n.-335A>G) | |
19 | g.12663782T>G | CA505625725 | MAN2B1 | c.684A>C (p.Val228=) n.666A>C c.387A>C (p.Val129=) c.-335A>C (n.-335A>C) | |
19 | g.12663783A>C | CA404252902 | MAN2B1 | c.683T>G (p.Val228Gly) n.665T>G c.386T>G (p.Val129Gly) c.-336T>G (n.-336T>G) | |
19 | g.12663783A>G | CA404252904 | MAN2B1 | c.683T>C (p.Val228Ala) n.665T>C c.386T>C (p.Val129Ala) c.-336T>C (n.-336T>C) | |
19 | g.12663783A>T | CA404252906 | MAN2B1 | c.683T>A (p.Val228Glu) n.665T>A c.386T>A (p.Val129Glu) c.-336T>A (n.-336T>A) | gnomAD v4 |
19 | g.12663784C>A | CA404252908 | MAN2B1 | c.682G>T (p.Val228Leu) n.664G>T c.385G>T (p.Val129Leu) c.-337G>T (n.-337G>T) | |
19 | g.12663784C>G | CA404252910 | MAN2B1 | c.682G>C (p.Val228Leu) n.664G>C c.385G>C (p.Val129Leu) c.-337G>C (n.-337G>C) | |
19 | g.12663784C>T | CA404252911 | MAN2B1 | c.682G>A (p.Val228Ile) n.664G>A c.385G>A (p.Val129Ile) c.-337G>A (n.-337G>A) | |
19 | g.12663786del | CA2831039030 | MAN2B1 | c.682del (p.Val228TyrfsTer18) n.664del c.385del (p.Val129TyrfsTer18) c.-337del (n.-337del) | |
19 | g.12663785C>A | CA404252914 | MAN2B1 | c.681G>T (p.Trp227Cys) n.663G>T c.384G>T (p.Trp128Cys) c.-338G>T (n.-338G>T) | |
19 | g.12663785C>G | CA404252916 | MAN2B1 | c.681G>C (p.Trp227Cys) n.663G>C c.384G>C (p.Trp128Cys) c.-338G>C (n.-338G>C) | gnomAD v4 |
19 | g.12663785C>T | CA404252917 | MAN2B1 | c.681G>A (p.Trp227Ter) n.663G>A c.384G>A (p.Trp128Ter) c.-338G>A (n.-338G>A) | ClinVar gnomAD v3 gnomAD v4 |
19 | g.12663786C>A | CA404252919 | MAN2B1 | c.680G>T (p.Trp227Leu) n.662G>T c.383G>T (p.Trp128Leu) c.-339G>T (n.-339G>T) | |
19 | g.12663786C= | CA2323506905 | MAN2B1 | c.680G= (p.Trp227=) n.662G= c.383G= (p.Trp128=) c.-339G= (n.-339G=) | |
19 | g.12663786C>G | CA404252922 | MAN2B1 | c.680G>C (p.Trp227Ser) n.662G>C c.383G>C (p.Trp128Ser) c.-339G>C (n.-339G>C) | |
19 | g.12663786C>T | CA9226734 | MAN2B1 | c.680G>A (p.Trp227Ter) n.662G>A c.383G>A (p.Trp128Ter) c.-339G>A (n.-339G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12663787A>C | CA404252923 | MAN2B1 | c.679T>G (p.Trp227Gly) n.661T>G c.382T>G (p.Trp128Gly) c.-340T>G (n.-340T>G) | |
19 | g.12663787A>G | CA404252925 | MAN2B1 | c.679T>C (p.Trp227Arg) n.661T>C c.382T>C (p.Trp128Arg) c.-340T>C (n.-340T>C) | |
19 | g.12663787A>T | CA404252927 | MAN2B1 | c.679T>A (p.Trp227Arg) n.661T>A c.382T>A (p.Trp128Arg) c.-340T>A (n.-340T>A) | |
19 | g.12663788C>A | CA404252929 | MAN2B1 | c.678G>T (p.Lys226Asn) n.660G>T c.381G>T (p.Lys127Asn) c.-341G>T (n.-341G>T) | |
19 | g.12663788C= | CA2323506906 | MAN2B1 | c.678G= (p.Lys226=) n.660G= c.381G= (p.Lys127=) c.-341G= (n.-341G=) | |
19 | g.12663788C>G | CA404252931 | MAN2B1 | c.678G>C (p.Lys226Asn) n.660G>C c.381G>C (p.Lys127Asn) c.-341G>C (n.-341G>C) | |
19 | g.12663788C>T | CA305477987 | MAN2B1 | c.678G>A (p.Lys226=) n.660G>A c.381G>A (p.Lys127=) c.-341G>A (n.-341G>A) | dbSNP gnomAD v4 |
19 | g.12663789T>A | CA404252932 | MAN2B1 | c.677A>T (p.Lys226Met) n.659A>T c.380A>T (p.Lys127Met) c.-342A>T (n.-342A>T) | |
19 | g.12663789T>C | CA404252933 | MAN2B1 | c.677A>G (p.Lys226Arg) n.659A>G c.380A>G (p.Lys127Arg) c.-342A>G (n.-342A>G) | |
19 | g.12663789T>G | CA404252936 | MAN2B1 | c.677A>C (p.Lys226Thr) n.659A>C c.380A>C (p.Lys127Thr) c.-342A>C (n.-342A>C) | |
19 | g.12663790T>A | CA404252939 | MAN2B1 | c.676A>T (p.Lys226Ter) n.658A>T c.379A>T (p.Lys127Ter) c.-343A>T (n.-343A>T) | |
19 | g.12663790T>C | CA404252940 | MAN2B1 | c.676A>G (p.Lys226Glu) n.658A>G c.379A>G (p.Lys127Glu) c.-343A>G (n.-343A>G) | |
19 | g.12663790T>G | CA404252938 | MAN2B1 | c.676A>C (p.Lys226Gln) n.658A>C c.379A>C (p.Lys127Gln) c.-343A>C (n.-343A>C) | |
19 | g.12663791A>C | CA404252941 | MAN2B1 | c.675T>G (p.Asp225Glu) n.657T>G c.378T>G (p.Asp126Glu) c.-344T>G (n.-344T>G) | |
19 | g.12663791A>G | CA505625726 | MAN2B1 | c.675T>C (p.Asp225=) n.657T>C c.378T>C (p.Asp126=) c.-344T>C (n.-344T>C) | |
19 | g.12663791A>T | CA404252942 | MAN2B1 | c.675T>A (p.Asp225Glu) n.657T>A c.378T>A (p.Asp126Glu) c.-344T>A (n.-344T>A) | |
19 | g.12663792T>A | CA404252943 | MAN2B1 | c.674A>T (p.Asp225Val) n.656A>T c.377A>T (p.Asp126Val) c.-345A>T (n.-345A>T) | |
19 | g.12663792T>C | CA404252944 | MAN2B1 | c.674A>G (p.Asp225Gly) n.656A>G c.377A>G (p.Asp126Gly) c.-345A>G (n.-345A>G) | gnomAD v4 |
19 | g.12663792T>G | CA404252946 | MAN2B1 | c.674A>C (p.Asp225Ala) n.656A>C c.377A>C (p.Asp126Ala) c.-345A>C (n.-345A>C) | |
19 | g.12663793C>A | CA404252951 | MAN2B1 | c.673G>T (p.Asp225Tyr) n.655G>T c.376G>T (p.Asp126Tyr) c.-346G>T (n.-346G>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.12663793C= | CA2323506907 | MAN2B1 | c.673G= (p.Asp225=) n.655G= c.376G= (p.Asp126=) c.-346G= (n.-346G=) | |
19 | g.12663793C>G | CA404252948 | MAN2B1 | c.673G>C (p.Asp225His) n.655G>C c.376G>C (p.Asp126His) c.-346G>C (n.-346G>C) | ClinVar dbSNP |
19 | g.12663793C>T | CA404252950 | MAN2B1 | c.673G>A (p.Asp225Asn) n.655G>A c.376G>A (p.Asp126Asn) c.-346G>A (n.-346G>A) | |
19 | g.12663794T>A | CA404252953 | MAN2B1 | c.672A>T (p.Gln224His) n.654A>T c.375A>T (p.Gln125His) c.-347A>T (n.-347A>T) | |
19 | g.12663794T>C | CA505625727 | MAN2B1 | c.672A>G (p.Gln224=) n.654A>G c.375A>G (p.Gln125=) c.-347A>G (n.-347A>G) | gnomAD v4 |
19 | g.12663794T>G | CA404252955 | MAN2B1 | c.672A>C (p.Gln224His) n.654A>C c.375A>C (p.Gln125His) c.-347A>C (n.-347A>C) | |
19 | g.12663795T>A | CA404252957 | MAN2B1 | c.671A>T (p.Gln224Leu) n.653A>T c.374A>T (p.Gln125Leu) c.-348A>T (n.-348A>T) | |
19 | g.12663795T>C | CA9226735 | MAN2B1 | c.671A>G (p.Gln224Arg) n.653A>G c.374A>G (p.Gln125Arg) c.-348A>G (n.-348A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12663795T>G | CA404252960 | MAN2B1 | c.671A>C (p.Gln224Pro) n.653A>C c.374A>C (p.Gln125Pro) c.-348A>C (n.-348A>C) | |
19 | g.12663795T= | CA2323506908 | MAN2B1 | c.671A= (p.Gln224=) n.653A= c.374A= (p.Gln125=) c.-348A= (n.-348A=) | |
19 | g.12663795_12663796del | CA2580096638 | MAN2B1 | c.670_671del (p.Gln224ArgfsTer2) n.652_653del c.373_374del (p.Gln125ArgfsTer2) c.-349_-348del (n.-349_-348del) | ClinVar |