Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.12649886_12649913delCA2582718643MAN2B1c.2267+5_2267+32del
c.2264+5_2264+32del
n.2857+5_2857+32del
c.2270+5_2270+32del
c.1166+5_1166+32del
 gnomAD v4
19g.12649910dupCA9226141MAN2B1c.2267+8dup (n.2267+8dup)
c.2264+8dup (n.2264+8dup)
n.2857+8dup
c.2270+8dup (n.2270+8dup)
c.1166+8dup (n.1166+8dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12649910delCA993665760MAN2B1c.2267+8del (n.2267+8del)
c.2264+8del (n.2264+8del)
n.2857+8del
c.2270+8del (n.2270+8del)
c.1166+8del (n.1166+8del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.12649909_12649910delCA2323499987MAN2B1c.2267+7_2267+8del (n.2267+7_2267+8del)
c.2264+7_2264+8del (n.2264+7_2264+8del)
n.2857+7_2857+8del
c.2270+7_2270+8del (n.2270+7_2270+8del)
c.1166+7_1166+8del (n.1166+7_1166+8del)
 dbSNP
19g.12649910C>ACA305462637MAN2B1c.2267+3G>T (n.2267+3G>T)
c.2264+3G>T (n.2264+3G>T)
n.2857+3G>T
c.2270+3G>T (n.2270+3G>T)
c.1166+3G>T (n.1166+3G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.12649910C=CA2323499992MAN2B1c.2267+3G= (n.2267+3G=)
c.2264+3G= (n.2264+3G=)
n.2857+3G=
c.2270+3G= (n.2270+3G=)
c.1166+3G= (n.1166+3G=)
19g.12649910C>GCA9226143MAN2B1c.2267+3G>C (n.2267+3G>C)
c.2264+3G>C (n.2264+3G>C)
n.2857+3G>C
c.2270+3G>C (n.2270+3G>C)
c.1166+3G>C (n.1166+3G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12649910C>TCA9226144MAN2B1c.2267+3G>A (n.2267+3G>A)
c.2264+3G>A (n.2264+3G>A)
n.2857+3G>A
c.2270+3G>A (n.2270+3G>A)
c.1166+3G>A (n.1166+3G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.12649911A=CA2323499993MAN2B1c.2267+2T= (n.2267+2T=)
c.2264+2T= (n.2264+2T=)
n.2857+2T=
c.2270+2T= (n.2270+2T=)
c.1166+2T= (n.1166+2T=)
19g.12649911A>CCA404242459MAN2B1c.2267+2T>G (n.2267+2T>G)
c.2264+2T>G (n.2264+2T>G)
n.2857+2T>G
c.2270+2T>G (n.2270+2T>G)
c.1166+2T>G (n.1166+2T>G)
 dbSNP gnomAD v3 gnomAD v4
19g.12649911A>GCA404242460MAN2B1c.2267+2T>C (n.2267+2T>C)
c.2264+2T>C (n.2264+2T>C)
n.2857+2T>C
c.2270+2T>C (n.2270+2T>C)
c.1166+2T>C (n.1166+2T>C)
19g.12649911A>TCA404242463MAN2B1c.2267+2T>A (n.2267+2T>A)
c.2264+2T>A (n.2264+2T>A)
n.2857+2T>A
c.2270+2T>A (n.2270+2T>A)
c.1166+2T>A (n.1166+2T>A)
 dbSNP
19g.12649912C>ACA404242465MAN2B1c.2267+1G>T (n.2267+1G>T)
c.2264+1G>T (n.2264+1G>T)
n.2857+1G>T
c.2270+1G>T (n.2270+1G>T)
c.1166+1G>T (n.1166+1G>T)
19g.12649912C=CA2323499994MAN2B1c.2267+1G= (n.2267+1G=)
c.2264+1G= (n.2264+1G=)
n.2857+1G=
c.2270+1G= (n.2270+1G=)
c.1166+1G= (n.1166+1G=)
19g.12649912C>GCA404242468MAN2B1c.2267+1G>C (n.2267+1G>C)
c.2264+1G>C (n.2264+1G>C)
n.2857+1G>C
c.2270+1G>C (n.2270+1G>C)
c.1166+1G>C (n.1166+1G>C)
 dbSNP
19g.12649912C>TCA305462644MAN2B1c.2267+1G>A (n.2267+1G>A)
c.2264+1G>A (n.2264+1G>A)
n.2857+1G>A
c.2270+1G>A (n.2270+1G>A)
c.1166+1G>A (n.1166+1G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.12649913C>ACA404242472MAN2B1c.2267G>T (p.Arg756Met)
c.2264G>T (p.Arg755Met)
n.2857G>T
c.2270G>T (p.Arg757Met)
c.1166G>T (p.Arg389Met)
19g.12649913C>GCA404242476MAN2B1c.2267G>C (p.Arg756Thr)
c.2264G>C (p.Arg755Thr)
n.2857G>C
c.2270G>C (p.Arg757Thr)
c.1166G>C (p.Arg389Thr)
19g.12649913C>TCA404242474MAN2B1c.2267G>A (p.Arg756Lys)
c.2264G>A (p.Arg755Lys)
n.2857G>A
c.2270G>A (p.Arg757Lys)
c.1166G>A (p.Arg389Lys)
19g.12649914T>ACA404242479MAN2B1c.2266A>T (p.Arg756Trp)
c.2263A>T (p.Arg755Trp)
n.2856A>T
c.2269A>T (p.Arg757Trp)
c.1165A>T (p.Arg389Trp)
19g.12649914T>CCA404242480MAN2B1c.2266A>G (p.Arg756Gly)
c.2263A>G (p.Arg755Gly)
n.2856A>G
c.2269A>G (p.Arg757Gly)
c.1165A>G (p.Arg389Gly)
 gnomAD v3 gnomAD v4
19g.12649914T>GCA505770839MAN2B1c.2266A>C (p.Arg756=)
c.2263A>C (p.Arg755=)
n.2856A>C
c.2269A>C (p.Arg757=)
c.1165A>C (p.Arg389=)
19g.12649915C>ACA404242484MAN2B1c.2265G>T (p.Arg755Ser)
c.2262G>T (p.Arg754Ser)
n.2855G>T
c.2268G>T (p.Arg756Ser)
c.1164G>T (p.Arg388Ser)
 gnomAD v4
19g.12649915C=CA2323499995MAN2B1c.2265G= (p.Arg755=)
c.2262G= (p.Arg754=)
n.2855G=
c.2268G= (p.Arg756=)
c.1164G= (p.Arg388=)
19g.12649915C>GCA404242485MAN2B1c.2265G>C (p.Arg755Ser)
c.2262G>C (p.Arg754Ser)
n.2855G>C
c.2268G>C (p.Arg756Ser)
c.1164G>C (p.Arg388Ser)
19g.12649915C>TCA505770840MAN2B1c.2265G>A (p.Arg755=)
c.2262G>A (p.Arg754=)
n.2855G>A
c.2268G>A (p.Arg756=)
c.1164G>A (p.Arg388=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.12649916C>ACA404242488MAN2B1c.2264G>T (p.Arg755Met)
c.2261G>T (p.Arg754Met)
n.2854G>T
c.2267G>T (p.Arg756Met)
c.1163G>T (p.Arg388Met)
19g.12649916C=CA2323499996MAN2B1c.2264G= (p.Arg755=)
c.2261G= (p.Arg754=)
n.2854G=
c.2267G= (p.Arg756=)
c.1163G= (p.Arg388=)
19g.12649916C>GCA404242491MAN2B1c.2264G>C (p.Arg755Thr)
c.2261G>C (p.Arg754Thr)
n.2854G>C
c.2267G>C (p.Arg756Thr)
c.1163G>C (p.Arg388Thr)
19g.12649916C>TCA9226145MAN2B1c.2264G>A (p.Arg755Lys)
c.2261G>A (p.Arg754Lys)
n.2854G>A
c.2267G>A (p.Arg756Lys)
c.1163G>A (p.Arg388Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.12649917T>ACA404242494MAN2B1c.2263A>T (p.Arg755Trp)
c.2260A>T (p.Arg754Trp)
n.2853A>T
c.2266A>T (p.Arg756Trp)
c.1162A>T (p.Arg388Trp)
19g.12649917T>CCA404242495MAN2B1c.2263A>G (p.Arg755Gly)
c.2260A>G (p.Arg754Gly)
n.2853A>G
c.2266A>G (p.Arg756Gly)
c.1162A>G (p.Arg388Gly)
 COSMIC
19g.12649917T>GCA505770841MAN2B1c.2263A>C (p.Arg755=)
c.2260A>C (p.Arg754=)
n.2853A>C
c.2266A>C (p.Arg756=)
c.1162A>C (p.Arg388=)
19g.12649918C>ACA404242497MAN2B1c.2262G>T (p.Glu754Asp)
c.2259G>T (p.Glu753Asp)
n.2852G>T
c.2265G>T (p.Glu755Asp)
c.1161G>T (p.Glu387Asp)
19g.12649918C>GCA404242499MAN2B1c.2262G>C (p.Glu754Asp)
c.2259G>C (p.Glu753Asp)
n.2852G>C
c.2265G>C (p.Glu755Asp)
c.1161G>C (p.Glu387Asp)
19g.12649918C>TCA505770842MAN2B1c.2262G>A (p.Glu754=)
c.2259G>A (p.Glu753=)
n.2852G>A
c.2265G>A (p.Glu755=)
c.1161G>A (p.Glu387=)
 gnomAD v4
19g.12649919T>ACA404242508MAN2B1c.2261A>T (p.Glu754Val)
c.2258A>T (p.Glu753Val)
n.2851A>T
c.2264A>T (p.Glu755Val)
c.1160A>T (p.Glu387Val)
19g.12649919T>CCA404242505MAN2B1c.2261A>G (p.Glu754Gly)
c.2258A>G (p.Glu753Gly)
n.2851A>G
c.2264A>G (p.Glu755Gly)
c.1160A>G (p.Glu387Gly)
 dbSNP gnomAD v3 gnomAD v4
19g.12649919T>GCA404242502MAN2B1c.2261A>C (p.Glu754Ala)
c.2258A>C (p.Glu753Ala)
n.2851A>C
c.2264A>C (p.Glu755Ala)
c.1160A>C (p.Glu387Ala)
19g.12649919T=CA2323499997MAN2B1c.2261A= (p.Glu754=)
c.2258A= (p.Glu753=)
n.2851A=
c.2264A= (p.Glu755=)
c.1160A= (p.Glu387=)
19g.12649920C>ACA404242509MAN2B1c.2260G>T (p.Glu754Ter)
c.2257G>T (p.Glu753Ter)
n.2850G>T
c.2263G>T (p.Glu755Ter)
c.1159G>T (p.Glu387Ter)
19g.12649920C=CA2323499998MAN2B1c.2260G= (p.Glu754=)
c.2257G= (p.Glu753=)
n.2850G=
c.2263G= (p.Glu755=)
c.1159G= (p.Glu387=)
19g.12649920C>GCA404242513MAN2B1c.2260G>C (p.Glu754Gln)
c.2257G>C (p.Glu753Gln)
n.2850G>C
c.2263G>C (p.Glu755Gln)
c.1159G>C (p.Glu387Gln)
19g.12649920C>TCA9226146MAN2B1c.2260G>A (p.Glu754Lys)
c.2257G>A (p.Glu753Lys)
n.2850G>A
c.2263G>A (p.Glu755Lys)
c.1159G>A (p.Glu387Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12649921delCA2576635000MAN2B1c.2260del (p.Glu754ArgfsTer12)
c.2257del (p.Glu753ArgfsTer12)
n.2850del
c.2263del (p.Glu755ArgfsTer12)
c.1159del (p.Glu387ArgfsTer12)
19g.12649921C>ACA505770846MAN2B1c.2259G>T (p.Leu753=)
c.2256G>T (p.Leu752=)
n.2849G>T
c.2262G>T (p.Leu754=)
c.1158G>T (p.Leu386=)
19g.12649921C>GCA505770847MAN2B1c.2259G>C (p.Leu753=)
c.2256G>C (p.Leu752=)
n.2849G>C
c.2262G>C (p.Leu754=)
c.1158G>C (p.Leu386=)
19g.12649921C>TCA505770848MAN2B1c.2259G>A (p.Leu753=)
c.2256G>A (p.Leu752=)
n.2849G>A
c.2262G>A (p.Leu754=)
c.1158G>A (p.Leu386=)
19g.12649922A=CA2323499999MAN2B1c.2258T= (p.Leu753=)
c.2255T= (p.Leu752=)
n.2848T=
c.2261T= (p.Leu754=)
c.1157T= (p.Leu386=)
19g.12649922A>CCA404242516MAN2B1c.2258T>G (p.Leu753Arg)
c.2255T>G (p.Leu752Arg)
n.2848T>G
c.2261T>G (p.Leu754Arg)
c.1157T>G (p.Leu386Arg)
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched