Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.83914957_83916182delCA2741808829MLYCDc.950_*693del (n.[c.950_*693del;Arg317ThrfsTer30])
c.301+2590_301+3815del
c.258+2590_258+3815del (n.258+2590_258+3815del)
c.950_*693del (n.[c.950_*693del;Arg317=])
 ClinVar
16g.83914988T>ACA396919511MLYCDc.981T>A (p.Ser327Arg)
c.301+2621T>A
c.258+2621T>A (n.258+2621T>A)
n.3306T>A
16g.83914988T>CCA496756448MLYCDc.981T>C (p.Ser327=)
c.301+2621T>C
c.258+2621T>C (n.258+2621T>C)
n.3306T>C
 gnomAD v4
16g.83914988T>GCA396919510MLYCDc.981T>G (p.Ser327Arg)
c.301+2621T>G
c.258+2621T>G (n.258+2621T>G)
n.3306T>G
16g.83914989C>ACA396919512MLYCDc.982C>A (p.Leu328Met)
c.301+2622C>A
c.258+2622C>A (n.258+2622C>A)
n.3307C>A
 dbSNP gnomAD v4
16g.83914989C=CA2238289676MLYCDc.982C= (p.Leu328=)
c.301+2622C=
c.258+2622C= (n.258+2622C=)
n.3307C=
16g.83914989C>GCA396919513MLYCDc.982C>G (p.Leu328Val)
c.301+2622C>G
c.258+2622C>G (n.258+2622C>G)
n.3307C>G
16g.83914989C>TCA496756449MLYCDc.982C>T (p.Leu328=)
c.301+2622C>T
c.258+2622C>T (n.258+2622C>T)
n.3307C>T
16g.83914990T>ACA396919514MLYCDc.983T>A (p.Leu328Gln)
c.301+2623T>A
c.258+2623T>A (n.258+2623T>A)
n.3308T>A
16g.83914990T>CCA396919515MLYCDc.983T>C (p.Leu328Pro)
c.301+2623T>C
c.258+2623T>C (n.258+2623T>C)
n.3308T>C
16g.83914990T>GCA396919516MLYCDc.983T>G (p.Leu328Arg)
c.301+2623T>G
c.258+2623T>G (n.258+2623T>G)
n.3308T>G
16g.83914991G>ACA496756450MLYCDc.984G>A (p.Leu328=)
c.301+2624G>A
c.258+2624G>A (n.258+2624G>A)
n.3309G>A
16g.83914991G>CCA496756451MLYCDc.984G>C (p.Leu328=)
c.301+2624G>C
c.258+2624G>C (n.258+2624G>C)
n.3309G>C
16g.83914991G=CA2238289686MLYCDc.984G= (p.Leu328=)
c.301+2624G=
c.258+2624G= (n.258+2624G=)
n.3309G=
16g.83914991G>TCA8197477MLYCDc.984G>T (p.Leu328=)
c.301+2624G>T
c.258+2624G>T (n.258+2624G>T)
n.3309G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.83914992T>ACA396919517MLYCDc.985T>A (p.Ser329Thr)
c.301+2625T>A
c.258+2625T>A (n.258+2625T>A)
n.3310T>A
16g.83914992T>CCA396919518MLYCDc.985T>C (p.Ser329Pro)
c.301+2625T>C
c.258+2625T>C (n.258+2625T>C)
n.3310T>C
16g.83914992T>GCA396919519MLYCDc.985T>G (p.Ser329Ala)
c.301+2625T>G
c.258+2625T>G (n.258+2625T>G)
n.3310T>G
16g.83914997_83915012delCA2634561137MLYCDc.990_1005del (p.Ile331AsnfsTer7)
c.301+2630_301+2645del
c.258+2630_258+2645del (n.258+2630_258+2645del)
n.3315_3330del
 gnomAD v4
16g.83914993C>ACA396919520MLYCDc.986C>A (p.Ser329Ter)
c.301+2626C>A
c.258+2626C>A (n.258+2626C>A)
n.3311C>A
16g.83914993C>GCA396919521MLYCDc.986C>G (p.Ser329Ter)
c.301+2626C>G
c.258+2626C>G (n.258+2626C>G)
n.3311C>G
16g.83914993C>TCA396919522MLYCDc.986C>T (p.Ser329Leu)
c.301+2626C>T
c.258+2626C>T (n.258+2626C>T)
n.3311C>T
16g.83914994A=CA2238289692MLYCDc.987A= (p.Ser329=)
c.301+2627A=
c.258+2627A= (n.258+2627A=)
n.3312A=
16g.83914994A>CCA496756452MLYCDc.987A>C (p.Ser329=)
c.301+2627A>C
c.258+2627A>C (n.258+2627A>C)
n.3312A>C
 gnomAD v4
16g.83914994A>GCA8197478MLYCDc.987A>G (p.Ser329=)
c.301+2627A>G
c.258+2627A>G (n.258+2627A>G)
n.3312A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.83914994A>TCA496756453MLYCDc.987A>T (p.Ser329=)
c.301+2627A>T
c.258+2627A>T (n.258+2627A>T)
n.3312A>T
16g.83914995C>ACA396919524MLYCDc.988C>A (p.Pro330Thr)
c.301+2628C>A
c.258+2628C>A (n.258+2628C>A)
n.3313C>A
16g.83914995C=CA2238289696MLYCDc.988C= (p.Pro330=)
c.301+2628C=
c.258+2628C= (n.258+2628C=)
n.3313C=
16g.83914995C>GCA285430218MLYCDc.988C>G (p.Pro330Ala)
c.301+2628C>G
c.258+2628C>G (n.258+2628C>G)
n.3313C>G
 dbSNP gnomAD v4
16g.83914995C>TCA396919523MLYCDc.988C>T (p.Pro330Ser)
c.301+2628C>T
c.258+2628C>T (n.258+2628C>T)
n.3313C>T
16g.83914996C>ACA396919525MLYCDc.989C>A (p.Pro330His)
c.301+2629C>A
c.258+2629C>A (n.258+2629C>A)
n.3314C>A
16g.83914996C=CA2238289701MLYCDc.989C= (p.Pro330=)
c.301+2629C=
c.258+2629C= (n.258+2629C=)
n.3314C=
16g.83914996C>GCA396919526MLYCDc.989C>G (p.Pro330Arg)
c.301+2629C>G
c.258+2629C>G (n.258+2629C>G)
n.3314C>G
16g.83914996C>TCA285430221MLYCDc.989C>T (p.Pro330Leu)
c.301+2629C>T
c.258+2629C>T (n.258+2629C>T)
n.3314C>T
 dbSNP gnomAD v4
16g.83914997T>ACA496756454MLYCDc.990T>A (p.Pro330=)
c.301+2630T>A
c.258+2630T>A (n.258+2630T>A)
n.3315T>A
16g.83914997T>CCA496756455MLYCDc.990T>C (p.Pro330=)
c.301+2630T>C
c.258+2630T>C (n.258+2630T>C)
n.3315T>C
 dbSNP
16g.83914997T>GCA496756456MLYCDc.990T>G (p.Pro330=)
c.301+2630T>G
c.258+2630T>G (n.258+2630T>G)
n.3315T>G
16g.83914997T=CA2238289704MLYCDc.990T= (p.Pro330=)
c.301+2630T=
c.258+2630T= (n.258+2630T=)
n.3315T=
16g.83914998A=CA2238289707MLYCDc.991A= (p.Ile331=)
c.301+2631A=
c.258+2631A= (n.258+2631A=)
n.3316A=
16g.83914998A>CCA396919527MLYCDc.991A>C (p.Ile331Leu)
c.301+2631A>C
c.258+2631A>C (n.258+2631A>C)
n.3316A>C
16g.83914998A>GCA396919528MLYCDc.991A>G (p.Ile331Val)
c.301+2631A>G
c.258+2631A>G (n.258+2631A>G)
n.3316A>G
 dbSNP gnomAD v2 gnomAD v4
16g.83914998A>TCA396919529MLYCDc.991A>T (p.Ile331Leu)
c.301+2631A>T
c.258+2631A>T (n.258+2631A>T)
n.3316A>T
16g.83914999T>ACA396919530MLYCDc.992T>A (p.Ile331Lys)
c.301+2632T>A
c.258+2632T>A (n.258+2632T>A)
n.3317T>A
16g.83914999T>CCA396919531MLYCDc.992T>C (p.Ile331Thr)
c.301+2632T>C
c.258+2632T>C (n.258+2632T>C)
n.3317T>C
16g.83914999T>GCA396919532MLYCDc.992T>G (p.Ile331Arg)
c.301+2632T>G
c.258+2632T>G (n.258+2632T>G)
n.3317T>G
16g.83915000A=CA2238289714MLYCDc.993A= (p.Ile331=)
c.301+2633A=
c.258+2633A= (n.258+2633A=)
n.3318A=
16g.83915000A>CCA496756457MLYCDc.993A>C (p.Ile331=)
c.301+2633A>C
c.258+2633A>C (n.258+2633A>C)
n.3318A>C
16g.83915000A>GCA8197479MLYCDc.993A>G (p.Ile331Met)
c.301+2633A>G
c.258+2633A>G (n.258+2633A>G)
n.3318A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.83915000A>TCA496756458MLYCDc.993A>T (p.Ile331=)
c.301+2633A>T
c.258+2633A>T (n.258+2633A>T)
n.3318A>T
16g.83915001C>ACA396919533MLYCDc.994C>A (p.Pro332Thr)
c.301+2634C>A
c.258+2634C>A (n.258+2634C>A)
n.3319C>A
16g.83915001C=CA2238289719MLYCDc.994C= (p.Pro332=)
c.301+2634C=
c.258+2634C= (n.258+2634C=)
n.3319C=
16g.83915001C>GCA396919534MLYCDc.994C>G (p.Pro332Ala)
c.301+2634C>G
c.258+2634C>G (n.258+2634C>G)
n.3319C>G
 gnomAD v4
16g.83915001C>TCA396919535MLYCDc.994C>T (p.Pro332Ser)
c.301+2634C>T
c.258+2634C>T (n.258+2634C>T)
n.3319C>T
 dbSNP gnomAD v4
16g.83915002C>ACA396919537MLYCDc.995C>A (p.Pro332His)
c.301+2635C>A
c.258+2635C>A (n.258+2635C>A)
n.3320C>A
16g.83915002C=CA2238289725MLYCDc.995C= (p.Pro332=)
c.301+2635C=
c.258+2635C= (n.258+2635C=)
n.3320C=
16g.83915002C>GCA8197480MLYCDc.995C>G (p.Pro332Arg)
c.301+2635C>G
c.258+2635C>G (n.258+2635C>G)
n.3320C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.83915002C>TCA396919536MLYCDc.995C>T (p.Pro332Leu)
c.301+2635C>T
c.258+2635C>T (n.258+2635C>T)
n.3320C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.83915003T>ACA285430226MLYCDc.996T>A (p.Pro332=)
c.301+2636T>A
c.258+2636T>A (n.258+2636T>A)
n.3321T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.83915003T>CCA496756459MLYCDc.996T>C (p.Pro332=)
c.301+2636T>C
c.258+2636T>C (n.258+2636T>C)
n.3321T>C
16g.83915003T>GCA496756460MLYCDc.996T>G (p.Pro332=)
c.301+2636T>G
c.258+2636T>G (n.258+2636T>G)
n.3321T>G
16g.83915003T=CA2238289730MLYCDc.996T= (p.Pro332=)
c.301+2636T=
c.258+2636T= (n.258+2636T=)
n.3321T=
16g.83915004G>ACA8197481MLYCDc.997G>A (p.Gly333Ser)
c.301+2637G>A
c.258+2637G>A (n.258+2637G>A)
n.3322G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.83915004G>CCA396919826MLYCDc.997G>C (p.Gly333Arg)
c.301+2637G>C
c.258+2637G>C (n.258+2637G>C)
n.3322G>C
 gnomAD v4
16g.83915004G=CA2238289735MLYCDc.997G= (p.Gly333=)
c.301+2637G=
c.258+2637G= (n.258+2637G=)
n.3322G=
16g.83915004G>TCA396919827MLYCDc.997G>T (p.Gly333Cys)
c.301+2637G>T
c.258+2637G>T (n.258+2637G>T)
n.3322G>T
16g.83915005G>ACA396919828MLYCDc.998G>A (p.Gly333Asp)
c.301+2638G>A
c.258+2638G>A (n.258+2638G>A)
n.3323G>A
16g.83915005G>CCA396919829MLYCDc.998G>C (p.Gly333Ala)
c.301+2638G>C
c.258+2638G>C (n.258+2638G>C)
n.3323G>C
16g.83915005G=CA2238289744MLYCDc.998G= (p.Gly333=)
c.301+2638G=
c.258+2638G= (n.258+2638G=)
n.3323G=
16g.83915005G>TCA10644368MLYCDc.998G>T (p.Gly333Val)
c.301+2638G>T
c.258+2638G>T (n.258+2638G>T)
n.3323G>T
 ClinVar dbSNP gnomAD v4
16g.83915006T>ACA497001115MLYCDc.999T>A (p.Gly333=)
c.301+2639T>A
c.258+2639T>A (n.258+2639T>A)
n.3324T>A
16g.83915006T>CCA497001117MLYCDc.999T>C (p.Gly333=)
c.301+2639T>C
c.258+2639T>C (n.258+2639T>C)
n.3324T>C
 gnomAD v4
16g.83915006T>GCA497001119MLYCDc.999T>G (p.Gly333=)
c.301+2639T>G
c.258+2639T>G (n.258+2639T>G)
n.3324T>G
16g.83915007T>ACA396919830MLYCDc.1000T>A (p.Phe334Ile)
c.301+2640T>A
c.258+2640T>A (n.258+2640T>A)
n.3325T>A
16g.83915007T>CCA396919831MLYCDc.1000T>C (p.Phe334Leu)
c.301+2640T>C
c.258+2640T>C (n.258+2640T>C)
n.3325T>C
16g.83915007T>GCA396919832MLYCDc.1000T>G (p.Phe334Val)
c.301+2640T>G
c.258+2640T>G (n.258+2640T>G)
n.3325T>G
16g.83915008T>ACA396919833MLYCDc.1001T>A (p.Phe334Tyr)
c.301+2641T>A
c.258+2641T>A (n.258+2641T>A)
n.3326T>A
16g.83915008T>CCA396919834MLYCDc.1001T>C (p.Phe334Ser)
c.301+2641T>C
c.258+2641T>C (n.258+2641T>C)
n.3326T>C
16g.83915008T>GCA396919835MLYCDc.1001T>G (p.Phe334Cys)
c.301+2641T>G
c.258+2641T>G (n.258+2641T>G)
n.3326T>G
16g.83915009C>ACA396919836MLYCDc.1002C>A (p.Phe334Leu)
c.301+2642C>A
c.258+2642C>A (n.258+2642C>A)
n.3327C>A
16g.83915009C=CA2238289758MLYCDc.1002C= (p.Phe334=)
c.301+2642C=
c.258+2642C= (n.258+2642C=)
n.3327C=
16g.83915009C>GCA396919837MLYCDc.1002C>G (p.Phe334Leu)
c.301+2642C>G
c.258+2642C>G (n.258+2642C>G)
n.3327C>G
16g.83915009C>TCA285430232MLYCDc.1002C>T (p.Phe334=)
c.301+2642C>T
c.258+2642C>T (n.258+2642C>T)
n.3327C>T
 dbSNP
16g.83915010A>CCA396919838MLYCDc.1003A>C (p.Thr335Pro)
c.301+2643A>C
c.258+2643A>C (n.258+2643A>C)
n.3328A>C
16g.83915010A>GCA396919840MLYCDc.1003A>G (p.Thr335Ala)
c.301+2643A>G
c.258+2643A>G (n.258+2643A>G)
n.3328A>G
16g.83915010A>TCA396919839MLYCDc.1003A>T (p.Thr335Ser)
c.301+2643A>T
c.258+2643A>T (n.258+2643A>T)
n.3328A>T
16g.83915011C>ACA8197482MLYCDc.1004C>A (p.Thr335Asn)
c.301+2644C>A
c.258+2644C>A (n.258+2644C>A)
n.3329C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.83915011C=CA2238289764MLYCDc.1004C= (p.Thr335=)
c.301+2644C=
c.258+2644C= (n.258+2644C=)
n.3329C=
16g.83915011C>GCA285430235MLYCDc.1004C>G (p.Thr335Ser)
c.301+2644C>G
c.258+2644C>G (n.258+2644C>G)
n.3329C>G
 dbSNP
16g.83915011C>TCA396919841MLYCDc.1004C>T (p.Thr335Ile)
c.301+2644C>T
c.258+2644C>T (n.258+2644C>T)
n.3329C>T
16g.83915012delCA2634561161MLYCDc.1005del (p.Lys336AsnfsTer7)
c.301+2645del
c.258+2645del (n.258+2645del)
n.3330del
 gnomAD v4
16g.83915012C>ACA497001123MLYCDc.1005C>A (p.Thr335=)
c.301+2645C>A
c.258+2645C>A (n.258+2645C>A)
n.3330C>A
 ClinVar dbSNP gnomAD v4
16g.83915012C=CA2238289766MLYCDc.1005C= (p.Thr335=)
c.301+2645C=
c.258+2645C= (n.258+2645C=)
n.3330C=
16g.83915012C>GCA497001124MLYCDc.1005C>G (p.Thr335=)
c.301+2645C>G
c.258+2645C>G (n.258+2645C>G)
n.3330C>G
 ClinVar
16g.83915012C>TCA285430239MLYCDc.1005C>T (p.Thr335=)
c.301+2645C>T
c.258+2645C>T (n.258+2645C>T)
n.3330C>T
 dbSNP
16g.83915013A=CA2238289772MLYCDc.1006A= (p.Lys336=)
c.301+2646A=
c.258+2646A= (n.258+2646A=)
n.3331A=
16g.83915013A>CCA396919842MLYCDc.1006A>C (p.Lys336Gln)
c.301+2646A>C
c.258+2646A>C (n.258+2646A>C)
n.3331A>C
16g.83915013A>GCA396919843MLYCDc.1006A>G (p.Lys336Glu)
c.301+2646A>G
c.258+2646A>G (n.258+2646A>G)
n.3331A>G
 gnomAD v4
16g.83915013A>TCA285430241MLYCDc.1006A>T (p.Lys336Ter)
c.301+2646A>T
c.258+2646A>T (n.258+2646A>T)
n.3331A>T
 dbSNP
16g.83915014A=CA2238289776MLYCDc.1007A= (p.Lys336=)
c.301+2647A=
c.258+2647A= (n.258+2647A=)
n.3332A=
16g.83915014A>CCA285430244MLYCDc.1007A>C (p.Lys336Thr)
c.301+2647A>C
c.258+2647A>C (n.258+2647A>C)
n.3332A>C
 dbSNP
16g.83915014A>GCA8197483MLYCDc.1007A>G (p.Lys336Arg)
c.301+2647A>G
c.258+2647A>G (n.258+2647A>G)
n.3332A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.83915014A>TCA396919844MLYCDc.1007A>T (p.Lys336Ile)
c.301+2647A>T
c.258+2647A>T (n.258+2647A>T)
n.3332A>T
 gnomAD v4
16g.83915015A=CA2238289782MLYCDc.1008A= (p.Lys336=)
c.301+2648A=
c.258+2648A= (n.258+2648A=)
n.3333A=
16g.83915015A>CCA396919845MLYCDc.1008A>C (p.Lys336Asn)
c.301+2648A>C
c.258+2648A>C (n.258+2648A>C)
n.3333A>C
16g.83915015A>GCA497001126MLYCDc.1008A>G (p.Lys336=)
c.301+2648A>G
c.258+2648A>G (n.258+2648A>G)
n.3333A>G
16g.83915015A>TCA285430250MLYCDc.1008A>T (p.Lys336Asn)
c.301+2648A>T
c.258+2648A>T (n.258+2648A>T)
n.3333A>T
 dbSNP
16g.83915016T>ACA396919846MLYCDc.1009T>A (p.Trp337Arg)
c.301+2649T>A
c.258+2649T>A (n.258+2649T>A)
n.3334T>A
16g.83915016T>CCA396919848MLYCDc.1009T>C (p.Trp337Arg)
c.301+2649T>C
c.258+2649T>C (n.258+2649T>C)
n.3334T>C
16g.83915016T>GCA396919847MLYCDc.1009T>G (p.Trp337Gly)
c.301+2649T>G
c.258+2649T>G (n.258+2649T>G)
n.3334T>G
16g.83915016_83915025delinsTGGCTTCTGGCA2238289788MLYCDc.1009_1018delinsTGGCTTCTGG (p.Trp337=)
c.301+2649_301+2658delinsTGGCTTCTGG
c.258+2649_258+2658delinsTGGCTTCTGG (n.258+2649_258+2658delinsTGGCTTCTGG)
n.3334_3343delinsTGGCTTCTGG
16g.83915017G>ACA396919849MLYCDc.1010G>A (p.Trp337Ter)
c.301+2650G>A
c.258+2650G>A (n.258+2650G>A)
n.3335G>A
16g.83915017G>CCA396919850MLYCDc.1010G>C (p.Trp337Ser)
c.301+2650G>C
c.258+2650G>C (n.258+2650G>C)
n.3335G>C
16g.83915017G>TCA396919851MLYCDc.1010G>T (p.Trp337Leu)
c.301+2650G>T
c.258+2650G>T (n.258+2650G>T)
n.3335G>T
16g.83915025_83915033delCA725039717MLYCDc.1018_1026del (p.Gly340_Leu342del)
c.301+2658_301+2666del
c.258+2658_258+2666del (n.258+2658_258+2666del)
n.3343_3351del
 dbSNP gnomAD v3 gnomAD v4
16g.83915018G>ACA396919852MLYCDc.1011G>A (p.Trp337Ter)
c.301+2651G>A
c.258+2651G>A (n.258+2651G>A)
n.3336G>A
16g.83915018G>CCA396919853MLYCDc.1011G>C (p.Trp337Cys)
c.301+2651G>C
c.258+2651G>C (n.258+2651G>C)
n.3336G>C
16g.83915018G>TCA396919854MLYCDc.1011G>T (p.Trp337Cys)
c.301+2651G>T
c.258+2651G>T (n.258+2651G>T)
n.3336G>T
16g.83915019C>ACA396919855MLYCDc.1012C>A (p.Leu338Ile)
c.301+2652C>A
c.258+2652C>A (n.258+2652C>A)
n.3337C>A
16g.83915019C=CA2238289792MLYCDc.1012C= (p.Leu338=)
c.301+2652C=
c.258+2652C= (n.258+2652C=)
n.3337C=
16g.83915019C>GCA396919856MLYCDc.1012C>G (p.Leu338Val)
c.301+2652C>G
c.258+2652C>G (n.258+2652C>G)
n.3337C>G
 ClinVar dbSNP
16g.83915019C>TCA396919857MLYCDc.1012C>T (p.Leu338Phe)
c.301+2652C>T
c.258+2652C>T (n.258+2652C>T)
n.3337C>T
 gnomAD v4
16g.83915020T>ACA396919859MLYCDc.1013T>A (p.Leu338His)
c.301+2653T>A
c.258+2653T>A (n.258+2653T>A)
n.3338T>A
16g.83915020T>CCA8197484MLYCDc.1013T>C (p.Leu338Pro)
c.301+2653T>C
c.258+2653T>C (n.258+2653T>C)
n.3338T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.83915020T>GCA396919858MLYCDc.1013T>G (p.Leu338Arg)
c.301+2653T>G
c.258+2653T>G (n.258+2653T>G)
n.3338T>G
16g.83915020T=CA2238289799MLYCDc.1013T= (p.Leu338=)
c.301+2653T=
c.258+2653T= (n.258+2653T=)
n.3338T=
16g.83915021T>ACA497001131MLYCDc.1014T>A (p.Leu338=)
c.301+2654T>A
c.258+2654T>A (n.258+2654T>A)
n.3339T>A
16g.83915021T>CCA497001132MLYCDc.1014T>C (p.Leu338=)
c.301+2654T>C
c.258+2654T>C (n.258+2654T>C)
n.3339T>C
16g.83915021T>GCA497001130MLYCDc.1014T>G (p.Leu338=)
c.301+2654T>G
c.258+2654T>G (n.258+2654T>G)
n.3339T>G
 COSMIC
16g.83915022C>ACA396919860MLYCDc.1015C>A (p.Leu339Met)
c.301+2655C>A
c.258+2655C>A (n.258+2655C>A)
n.3340C>A
 gnomAD v4
16g.83915022C>GCA396919861MLYCDc.1015C>G (p.Leu339Val)
c.301+2655C>G
c.258+2655C>G (n.258+2655C>G)
n.3340C>G
16g.83915022C>TCA497001133MLYCDc.1015C>T (p.Leu339=)
c.301+2655C>T
c.258+2655C>T (n.258+2655C>T)
n.3340C>T
16g.83915023T>ACA396919862MLYCDc.1016T>A (p.Leu339Gln)
c.301+2656T>A
c.258+2656T>A (n.258+2656T>A)
n.3341T>A
 dbSNP gnomAD v3 gnomAD v4
16g.83915023T>CCA396919863MLYCDc.1016T>C (p.Leu339Pro)
c.301+2656T>C
c.258+2656T>C (n.258+2656T>C)
n.3341T>C
16g.83915023T>GCA396919864MLYCDc.1016T>G (p.Leu339Arg)
c.301+2656T>G
c.258+2656T>G (n.258+2656T>G)
n.3341T>G
16g.83915023T=CA2238289805MLYCDc.1016T= (p.Leu339=)
c.301+2656T=
c.258+2656T= (n.258+2656T=)
n.3341T=
16g.83915024G>ACA497001135MLYCDc.1017G>A (p.Leu339=)
c.301+2657G>A
c.258+2657G>A (n.258+2657G>A)
n.3342G>A
16g.83915024G>CCA497001136MLYCDc.1017G>C (p.Leu339=)
c.301+2657G>C
c.258+2657G>C (n.258+2657G>C)
n.3342G>C
 dbSNP
16g.83915024G>TCA497001137MLYCDc.1017G>T (p.Leu339=)
c.301+2657G>T
c.258+2657G>T (n.258+2657G>T)
n.3342G>T
16g.83915025G>ACA396919865MLYCDc.1018G>A (p.Gly340Arg)
c.301+2658G>A
c.258+2658G>A (n.258+2658G>A)
n.3343G>A
 dbSNP gnomAD v4
16g.83915025G>CCA396919866MLYCDc.1018G>C (p.Gly340Arg)
c.301+2658G>C
c.258+2658G>C (n.258+2658G>C)
n.3343G>C
 gnomAD v4
16g.83915025G=CA2238289814MLYCDc.1018G= (p.Gly340=)
c.301+2658G=
c.258+2658G= (n.258+2658G=)
n.3343G=
16g.83915025G>TCA396919867MLYCDc.1018G>T (p.Gly340Trp)
c.301+2658G>T
c.258+2658G>T (n.258+2658G>T)
n.3343G>T
16g.83915026G>ACA396919868MLYCDc.1019G>A (p.Gly340Glu)
c.301+2659G>A
c.258+2659G>A (n.258+2659G>A)
n.3344G>A
 gnomAD v4
16g.83915026G>CCA396919869MLYCDc.1019G>C (p.Gly340Ala)
c.301+2659G>C
c.258+2659G>C (n.258+2659G>C)
n.3344G>C
16g.83915026G>TCA396919870MLYCDc.1019G>T (p.Gly340Val)
c.301+2659G>T
c.258+2659G>T (n.258+2659G>T)
n.3344G>T
16g.83915027G>ACA497001138MLYCDc.1020G>A (p.Gly340=)
c.301+2660G>A
c.258+2660G>A (n.258+2660G>A)
n.3345G>A
16g.83915027G>CCA497001139MLYCDc.1020G>C (p.Gly340=)
c.301+2660G>C
c.258+2660G>C (n.258+2660G>C)
n.3345G>C
16g.83915027G>TCA497001140MLYCDc.1020G>T (p.Gly340=)
c.301+2660G>T
c.258+2660G>T (n.258+2660G>T)
n.3345G>T
16g.83915028C>ACA396919872MLYCDc.1021C>A (p.Leu341Ile)
c.301+2661C>A
c.258+2661C>A (n.258+2661C>A)
n.3346C>A
16g.83915028C=CA2238289820MLYCDc.1021C= (p.Leu341=)
c.301+2661C=
c.258+2661C= (n.258+2661C=)
n.3346C=
16g.83915028C>GCA396919873MLYCDc.1021C>G (p.Leu341Val)
c.301+2661C>G
c.258+2661C>G (n.258+2661C>G)
n.3346C>G
16g.83915028C>TCA396919871MLYCDc.1021C>T (p.Leu341Phe)
c.301+2661C>T
c.258+2661C>T (n.258+2661C>T)
n.3346C>T
 dbSNP gnomAD v3 gnomAD v4
16g.83915029T>ACA396919874MLYCDc.1022T>A (p.Leu341His)
c.301+2662T>A
c.258+2662T>A (n.258+2662T>A)
n.3347T>A
16g.83915029T>CCA396919875MLYCDc.1022T>C (p.Leu341Pro)
c.301+2662T>C
c.258+2662T>C (n.258+2662T>C)
n.3347T>C
16g.83915029T>GCA8197485MLYCDc.1022T>G (p.Leu341Arg)
c.301+2662T>G
c.258+2662T>G (n.258+2662T>G)
n.3347T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.83915029T=CA2238289825MLYCDc.1022T= (p.Leu341=)
c.301+2662T=
c.258+2662T= (n.258+2662T=)
n.3347T=
16g.83915030T>ACA497001142MLYCDc.1023T>A (p.Leu341=)
c.301+2663T>A
c.258+2663T>A (n.258+2663T>A)
n.3348T>A
16g.83915030T>CCA497001143MLYCDc.1023T>C (p.Leu341=)
c.301+2663T>C
c.258+2663T>C (n.258+2663T>C)
n.3348T>C
16g.83915030T>GCA497001144MLYCDc.1023T>G (p.Leu341=)
c.301+2663T>G
c.258+2663T>G (n.258+2663T>G)
n.3348T>G
16g.83915031C>ACA396919876MLYCDc.1024C>A (p.Leu342Met)
c.301+2664C>A
c.258+2664C>A (n.258+2664C>A)
n.3349C>A
16g.83915031C=CA2238289829MLYCDc.1024C= (p.Leu342=)
c.301+2664C=
c.258+2664C= (n.258+2664C=)
n.3349C=
16g.83915031C>GCA396919877MLYCDc.1024C>G (p.Leu342Val)
c.301+2664C>G
c.258+2664C>G (n.258+2664C>G)
n.3349C>G
16g.83915031C>TCA497001145MLYCDc.1024C>T (p.Leu342=)
c.301+2664C>T
c.258+2664C>T (n.258+2664C>T)
n.3349C>T
 ClinVar dbSNP
16g.83915032T>ACA396919880MLYCDc.1025T>A (p.Leu342Gln)
c.301+2665T>A
c.258+2665T>A (n.258+2665T>A)
n.3350T>A
16g.83915032T>CCA396919878MLYCDc.1025T>C (p.Leu342Pro)
c.301+2665T>C
c.258+2665T>C (n.258+2665T>C)
n.3350T>C
16g.83915032T>GCA396919879MLYCDc.1025T>G (p.Leu342Arg)
c.301+2665T>G
c.258+2665T>G (n.258+2665T>G)
n.3350T>G
16g.83915033G>ACA497001146MLYCDc.1026G>A (p.Leu342=)
c.301+2666G>A
c.258+2666G>A (n.258+2666G>A)
n.3351G>A
16g.83915033G>CCA497001147MLYCDc.1026G>C (p.Leu342=)
c.301+2666G>C
c.258+2666G>C (n.258+2666G>C)
n.3351G>C
16g.83915033G>TCA497001148MLYCDc.1026G>T (p.Leu342=)
c.301+2666G>T
c.258+2666G>T (n.258+2666G>T)
n.3351G>T
16g.83915034A=CA2238289837MLYCDc.1027A= (p.Asn343=)
c.301+2667A=
c.258+2667A= (n.258+2667A=)
n.3352A=
16g.83915034A>CCA396919881MLYCDc.1027A>C (p.Asn343His)
c.301+2667A>C
c.258+2667A>C (n.258+2667A>C)
n.3352A>C
16g.83915034A>GCA396919882MLYCDc.1027A>G (p.Asn343Asp)
c.301+2667A>G
c.258+2667A>G (n.258+2667A>G)
n.3352A>G
16g.83915034A>TCA396919883MLYCDc.1027A>T (p.Asn343Tyr)
c.301+2667A>T
c.258+2667A>T (n.258+2667A>T)
n.3352A>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.83915035A=CA2238289844MLYCDc.1028A= (p.Asn343=)
c.301+2668A=
c.258+2668A= (n.258+2668A=)
n.3353A=
16g.83915035A>CCA396919884MLYCDc.1028A>C (p.Asn343Thr)
c.301+2668A>C
c.258+2668A>C (n.258+2668A>C)
n.3353A>C
16g.83915035A>GCA8197486MLYCDc.1028A>G (p.Asn343Ser)
c.301+2668A>G
c.258+2668A>G (n.258+2668A>G)
n.3353A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.83915035A>TCA396919885MLYCDc.1028A>T (p.Asn343Ile)
c.301+2668A>T
c.258+2668A>T (n.258+2668A>T)
n.3353A>T
16g.83915036C>ACA396919886MLYCDc.1029C>A (p.Asn343Lys)
c.301+2669C>A
c.258+2669C>A (n.258+2669C>A)
n.3354C>A
16g.83915036C>GCA396919887MLYCDc.1029C>G (p.Asn343Lys)
c.301+2669C>G
c.258+2669C>G (n.258+2669C>G)
n.3354C>G
16g.83915036C>TCA497001152MLYCDc.1029C>T (p.Asn343=)
c.301+2669C>T
c.258+2669C>T (n.258+2669C>T)
n.3354C>T
 gnomAD v4
16g.83915037T>ACA396919888MLYCDc.1030T>A (p.Ser344Thr)
c.301+2670T>A
c.258+2670T>A (n.258+2670T>A)
n.3355T>A
16g.83915037T>CCA396919889MLYCDc.1030T>C (p.Ser344Pro)
c.301+2670T>C
c.258+2670T>C (n.258+2670T>C)
n.3355T>C
16g.83915037T>GCA396919890MLYCDc.1030T>G (p.Ser344Ala)
c.301+2670T>G
c.258+2670T>G (n.258+2670T>G)
n.3355T>G
16g.83915038C>ACA396919891MLYCDc.1031C>A (p.Ser344Ter)
c.301+2671C>A
c.258+2671C>A (n.258+2671C>A)
n.3356C>A
16g.83915038C=CA2238289857MLYCDc.1031C= (p.Ser344=)
c.301+2671C=
c.258+2671C= (n.258+2671C=)
n.3356C=
16g.83915038C>GCA396919892MLYCDc.1031C>G (p.Ser344Trp)
c.301+2671C>G
c.258+2671C>G (n.258+2671C>G)
n.3356C>G
 gnomAD v4
16g.83915038C>TCA396919893MLYCDc.1031C>T (p.Ser344Leu)
c.301+2671C>T
c.258+2671C>T (n.258+2671C>T)
n.3356C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.83915039G>ACA497001154MLYCDc.1032G>A (p.Ser344=)
c.301+2672G>A
c.258+2672G>A (n.258+2672G>A)
n.3357G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.83915039G>CCA497001155MLYCDc.1032G>C (p.Ser344=)
c.301+2672G>C
c.258+2672G>C (n.258+2672G>C)
n.3357G>C
16g.83915039G=CA2238289865MLYCDc.1032G= (p.Ser344=)
c.301+2672G=
c.258+2672G= (n.258+2672G=)
n.3357G=
16g.83915039G>TCA497001156MLYCDc.1032G>T (p.Ser344=)
c.301+2672G>T
c.258+2672G>T (n.258+2672G>T)
n.3357G>T
 ClinVar dbSNP gnomAD v4
16g.83915040C>ACA396919894MLYCDc.1033C>A (p.Gln345Lys)
c.301+2673C>A
c.258+2673C>A (n.258+2673C>A)
n.3358C>A
 dbSNP gnomAD v2 gnomAD v4
16g.83915040C=CA2238289872MLYCDc.1033C= (p.Gln345=)
c.301+2673C=
c.258+2673C= (n.258+2673C=)
n.3358C=
16g.83915040C>GCA396919895MLYCDc.1033C>G (p.Gln345Glu)
c.301+2673C>G
c.258+2673C>G (n.258+2673C>G)
n.3358C>G
 gnomAD v4
16g.83915040C>TCA396919896MLYCDc.1033C>T (p.Gln345Ter)
c.301+2673C>T
c.258+2673C>T (n.258+2673C>T)
n.3358C>T
 gnomAD v4
16g.83915041A=CA2238289876MLYCDc.1034A= (p.Gln345=)
c.301+2674A=
c.258+2674A= (n.258+2674A=)
n.3359A=
16g.83915041A>CCA396919897MLYCDc.1034A>C (p.Gln345Pro)
c.301+2674A>C
c.258+2674A>C (n.258+2674A>C)
n.3359A>C
 dbSNP
16g.83915041A>GCA396919898MLYCDc.1034A>G (p.Gln345Arg)
c.301+2674A>G
c.258+2674A>G (n.258+2674A>G)
n.3359A>G
16g.83915041A>TCA396919899MLYCDc.1034A>T (p.Gln345Leu)
c.301+2674A>T
c.258+2674A>T (n.258+2674A>T)
n.3359A>T
16g.83915042A=CA2238289880MLYCDc.1035A= (p.Gln345=)
c.301+2675A=
c.258+2675A= (n.258+2675A=)
n.3360A=
16g.83915042A>CCA396919900MLYCDc.1035A>C (p.Gln345His)
c.301+2675A>C
c.258+2675A>C (n.258+2675A>C)
n.3360A>C
16g.83915042A>GCA497001159MLYCDc.1035A>G (p.Gln345=)
c.301+2675A>G
c.258+2675A>G (n.258+2675A>G)
n.3360A>G
 dbSNP gnomAD v2 gnomAD v4
16g.83915042A>TCA396919901MLYCDc.1035A>T (p.Gln345His)
c.301+2675A>T
c.258+2675A>T (n.258+2675A>T)
n.3360A>T
16g.83915043A>CCA396919904MLYCDc.1036A>C (p.Thr346Pro)
c.301+2676A>C
c.258+2676A>C (n.258+2676A>C)
n.3361A>C
16g.83915043A>GCA396919903MLYCDc.1036A>G (p.Thr346Ala)
c.301+2676A>G
c.258+2676A>G (n.258+2676A>G)
n.3361A>G
16g.83915043A>TCA396919902MLYCDc.1036A>T (p.Thr346Ser)
c.301+2676A>T
c.258+2676A>T (n.258+2676A>T)
n.3361A>T
16g.83915044C>ACA396919905MLYCDc.1037C>A (p.Thr346Lys)
c.301+2677C>A
c.258+2677C>A (n.258+2677C>A)
n.3362C>A
16g.83915044C=CA2238289884MLYCDc.1037C= (p.Thr346=)
c.301+2677C=
c.258+2677C= (n.258+2677C=)
n.3362C=
16g.83915044C>GCA396919906MLYCDc.1037C>G (p.Thr346Arg)
c.301+2677C>G
c.258+2677C>G (n.258+2677C>G)
n.3362C>G
 dbSNP gnomAD v2 gnomAD v4
16g.83915044C>TCA8197487MLYCDc.1037C>T (p.Thr346Met)
c.301+2677C>T
c.258+2677C>T (n.258+2677C>T)
n.3362C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.83915044_83915047delinsCGAACA2238289887MLYCDc.1037_1040delinsCGAA (p.Thr346=)
c.301+2677_301+2680delinsCGAA
c.258+2677_258+2680delinsCGAA (n.258+2677_258+2680delinsCGAA)
n.3362_3365delinsCGAA
16g.83915045G>ACA497001162MLYCDc.1038G>A (p.Thr346=)
c.301+2678G>A
c.258+2678G>A (n.258+2678G>A)
n.3363G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.83915045G>CCA497001163MLYCDc.1038G>C (p.Thr346=)
c.301+2678G>C
c.258+2678G>C (n.258+2678G>C)
n.3363G>C
16g.83915045G=CA2238289891MLYCDc.1038G= (p.Thr346=)
c.301+2678G=
c.258+2678G= (n.258+2678G=)
n.3363G=
16g.83915045G>TCA497001164MLYCDc.1038G>T (p.Thr346=)
c.301+2678G>T
c.258+2678G>T (n.258+2678G>T)
n.3363G>T
16g.83915046_83915048delCA624017912MLYCDc.1039_1041del (p.Lys347del)
c.301+2679_301+2681del
c.258+2679_258+2681del (n.258+2679_258+2681del)
n.3364_3366del
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.83915046A>CCA396919907MLYCDc.1039A>C (p.Lys347Gln)
c.301+2679A>C
c.258+2679A>C (n.258+2679A>C)
n.3364A>C
16g.83915046A>GCA396919908MLYCDc.1039A>G (p.Lys347Glu)
c.301+2679A>G
c.258+2679A>G (n.258+2679A>G)
n.3364A>G
16g.83915046A>TCA396919909MLYCDc.1039A>T (p.Lys347Ter)
c.301+2679A>T
c.258+2679A>T (n.258+2679A>T)
n.3364A>T
16g.83915047A=CA2238289896MLYCDc.1040A= (p.Lys347=)
c.301+2680A=
c.258+2680A= (n.258+2680A=)
n.3365A=
16g.83915047A>CCA8197488MLYCDc.1040A>C (p.Lys347Thr)
c.301+2680A>C
c.258+2680A>C (n.258+2680A>C)
n.3365A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.83915047A>GCA396919910MLYCDc.1040A>G (p.Lys347Arg)
c.301+2680A>G
c.258+2680A>G (n.258+2680A>G)
n.3365A>G
16g.83915047A>TCA396919911MLYCDc.1040A>T (p.Lys347Met)
c.301+2680A>T
c.258+2680A>T (n.258+2680A>T)
n.3365A>T
16g.83915048G>ACA497001168MLYCDc.1041G>A (p.Lys347=)
c.301+2681G>A
c.258+2681G>A (n.258+2681G>A)
n.3366G>A
16g.83915048G>CCA396919912MLYCDc.1041G>C (p.Lys347Asn)
c.301+2681G>C
c.258+2681G>C (n.258+2681G>C)
n.3366G>C
 dbSNP gnomAD v2 gnomAD v4
16g.83915048G=CA2238289902MLYCDc.1041G= (p.Lys347=)
c.301+2681G=
c.258+2681G= (n.258+2681G=)
n.3366G=
16g.83915048G>TCA396919913MLYCDc.1041G>T (p.Lys347Asn)
c.301+2681G>T
c.258+2681G>T (n.258+2681G>T)
n.3366G>T
16g.83915049G>ACA396919914MLYCDc.1042G>A (p.Glu348Lys)
c.301+2682G>A
c.258+2682G>A (n.258+2682G>A)
n.3367G>A
16g.83915049G>CCA396919915MLYCDc.1042G>C (p.Glu348Gln)
c.301+2682G>C
c.258+2682G>C (n.258+2682G>C)
n.3367G>C
16g.83915049G>TCA396919916MLYCDc.1042G>T (p.Glu348Ter)
c.301+2682G>T
c.258+2682G>T (n.258+2682G>T)
n.3367G>T
16g.83915050A=CA2238289906MLYCDc.1043A= (p.Glu348=)
c.301+2683A=
c.258+2683A= (n.258+2683A=)
n.3368A=
16g.83915050A>CCA396919917MLYCDc.1043A>C (p.Glu348Ala)
c.301+2683A>C
c.258+2683A>C (n.258+2683A>C)
n.3368A>C
16g.83915050A>GCA396919918MLYCDc.1043A>G (p.Glu348Gly)
c.301+2683A>G
c.258+2683A>G (n.258+2683A>G)
n.3368A>G
16g.83915050A>TCA8197489MLYCDc.1043A>T (p.Glu348Val)
c.301+2683A>T
c.258+2683A>T (n.258+2683A>T)
n.3368A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.83915051G>ACA8197491MLYCDc.1044G>A (p.Glu348=)
c.301+2684G>A
c.258+2684G>A (n.258+2684G>A)
n.3369G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.83915051G>CCA396919919MLYCDc.1044G>C (p.Glu348Asp)
c.301+2684G>C
c.258+2684G>C (n.258+2684G>C)
n.3369G>C
16g.83915051G=CA2238289917MLYCDc.1044G= (p.Glu348=)
c.301+2684G=
c.258+2684G= (n.258+2684G=)
n.3369G=
16g.83915051G>TCA8197490MLYCDc.1044G>T (p.Glu348Asp)
c.301+2684G>T
c.258+2684G>T (n.258+2684G>T)
n.3369G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.83915052C>ACA396919920MLYCDc.1045C>A (p.His349Asn)
c.301+2685C>A
c.258+2685C>A (n.258+2685C>A)
n.3370C>A
 dbSNP gnomAD v4
16g.83915052C=CA2238289924MLYCDc.1045C= (p.His349=)
c.301+2685C=
c.258+2685C= (n.258+2685C=)
n.3370C=
16g.83915052C>GCA396919921MLYCDc.1045C>G (p.His349Asp)
c.301+2685C>G
c.258+2685C>G (n.258+2685C>G)
n.3370C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.83915052C>TCA396919922MLYCDc.1045C>T (p.His349Tyr)
c.301+2685C>T
c.258+2685C>T (n.258+2685C>T)
n.3370C>T
16g.83915053A=CA2238289929MLYCDc.1046A= (p.His349=)
c.301+2686A=
c.258+2686A= (n.258+2686A=)
n.3371A=
16g.83915053A>CCA396919924MLYCDc.1046A>C (p.His349Pro)
c.301+2686A>C
c.258+2686A>C (n.258+2686A>C)
n.3371A>C
16g.83915053A>GCA8197492MLYCDc.1046A>G (p.His349Arg)
c.301+2686A>G
c.258+2686A>G (n.258+2686A>G)
n.3371A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.83915053A>TCA396919923MLYCDc.1046A>T (p.His349Leu)
c.301+2686A>T
c.258+2686A>T (n.258+2686A>T)
n.3371A>T
16g.83915054T>ACA396919925MLYCDc.1047T>A (p.His349Gln)
c.301+2687T>A
c.258+2687T>A (n.258+2687T>A)
n.3372T>A
 gnomAD v4
16g.83915054T>CCA497001175MLYCDc.1047T>C (p.His349=)
c.301+2687T>C
c.258+2687T>C (n.258+2687T>C)
n.3372T>C
 dbSNP gnomAD v3 gnomAD v4
16g.83915054T>GCA396919926MLYCDc.1047T>G (p.His349Gln)
c.301+2687T>G
c.258+2687T>G (n.258+2687T>G)
n.3372T>G
 ClinVar gnomAD v4
16g.83915055G>ACA396919927MLYCDc.1048G>A (p.Gly350Arg)
c.301+2688G>A
c.258+2688G>A (n.258+2688G>A)
n.3373G>A
 gnomAD v4
16g.83915055G>CCA396919928MLYCDc.1048G>C (p.Gly350Arg)
c.301+2688G>C
c.258+2688G>C (n.258+2688G>C)
n.3373G>C
 dbSNP gnomAD v3 gnomAD v4
16g.83915055G=CA2238289934MLYCDc.1048G= (p.Gly350=)
c.301+2688G=
c.258+2688G= (n.258+2688G=)
n.3373G=
16g.83915055G>TCA396919929MLYCDc.1048G>T (p.Gly350Trp)
c.301+2688G>T
c.258+2688G>T (n.258+2688G>T)
n.3373G>T
 gnomAD v4
16g.83915056G>ACA396919930MLYCDc.1049G>A (p.Gly350Glu)
c.301+2689G>A
c.258+2689G>A (n.258+2689G>A)
n.3374G>A
 dbSNP
16g.83915056G>CCA396919932MLYCDc.1049G>C (p.Gly350Ala)
c.301+2689G>C
c.258+2689G>C (n.258+2689G>C)
n.3374G>C
16g.83915056G>TCA396919931MLYCDc.1049G>T (p.Gly350Val)
c.301+2689G>T
c.258+2689G>T (n.258+2689G>T)
n.3374G>T
16g.83915057G>ACA497001180MLYCDc.1050G>A (p.Gly350=)
c.301+2690G>A
c.258+2690G>A (n.258+2690G>A)
n.3375G>A
16g.83915057G>CCA497001181MLYCDc.1050G>C (p.Gly350=)
c.301+2690G>C
c.258+2690G>C (n.258+2690G>C)
n.3375G>C
16g.83915057G>TCA497001182MLYCDc.1050G>T (p.Gly350=)
c.301+2690G>T
c.258+2690G>T (n.258+2690G>T)
n.3375G>T
16g.83915058A>CCA497001183MLYCDc.1051A>C (p.Arg351=)
c.301+2691A>C
c.258+2691A>C (n.258+2691A>C)
n.3376A>C
16g.83915058A>GCA396919933MLYCDc.1051A>G (p.Arg351Gly)
c.301+2691A>G
c.258+2691A>G (n.258+2691A>G)
n.3376A>G
16g.83915058A>TCA396919934MLYCDc.1051A>T (p.Arg351Trp)
c.301+2691A>T
c.258+2691A>T (n.258+2691A>T)
n.3376A>T
16g.83915059G>ACA396919935MLYCDc.1052G>A (p.Arg351Lys)
c.301+2692G>A
c.258+2692G>A (n.258+2692G>A)
n.3377G>A
 gnomAD v4
16g.83915059G>CCA396919936MLYCDc.1052G>C (p.Arg351Thr)
c.301+2692G>C
c.258+2692G>C (n.258+2692G>C)
n.3377G>C
16g.83915059G>TCA396919937MLYCDc.1052G>T (p.Arg351Met)
c.301+2692G>T
c.258+2692G>T (n.258+2692G>T)
n.3377G>T
16g.83915060G>ACA497001185MLYCDc.1053G>A (p.Arg351=)
c.301+2693G>A
c.258+2693G>A (n.258+2693G>A)
n.3378G>A
16g.83915060G>CCA396919938MLYCDc.1053G>C (p.Arg351Ser)
c.301+2693G>C
c.258+2693G>C (n.258+2693G>C)
n.3378G>C
16g.83915060G>TCA396919939MLYCDc.1053G>T (p.Arg351Ser)
c.301+2693G>T
c.258+2693G>T (n.258+2693G>T)
n.3378G>T
16g.83915061A>CCA396919940MLYCDc.1054A>C (p.Asn352His)
c.301+2694A>C
c.258+2694A>C (n.258+2694A>C)
n.3379A>C
16g.83915061A>GCA396919941MLYCDc.1054A>G (p.Asn352Asp)
c.301+2694A>G
c.258+2694A>G (n.258+2694A>G)
n.3379A>G
 gnomAD v4
16g.83915061A>TCA396919942MLYCDc.1054A>T (p.Asn352Tyr)
c.301+2694A>T
c.258+2694A>T (n.258+2694A>T)
n.3379A>T
16g.83915062A>CCA396919943MLYCDc.1055A>C (p.Asn352Thr)
c.301+2695A>C
c.258+2695A>C (n.258+2695A>C)
n.3380A>C
16g.83915062A>GCA396919945MLYCDc.1055A>G (p.Asn352Ser)
c.301+2695A>G
c.258+2695A>G (n.258+2695A>G)
n.3380A>G
 gnomAD v4
16g.83915062A>TCA396919944MLYCDc.1055A>T (p.Asn352Ile)
c.301+2695A>T
c.258+2695A>T (n.258+2695A>T)
n.3380A>T
16g.83915063T>ACA396919946MLYCDc.1056T>A (p.Asn352Lys)
c.301+2696T>A
c.258+2696T>A (n.258+2696T>A)
n.3381T>A
16g.83915063T>CCA497001186MLYCDc.1056T>C (p.Asn352=)
c.301+2696T>C
c.258+2696T>C (n.258+2696T>C)
n.3381T>C
16g.83915063T>GCA396919947MLYCDc.1056T>G (p.Asn352Lys)
c.301+2696T>G
c.258+2696T>G (n.258+2696T>G)
n.3381T>G
 gnomAD v4
16g.83915064G>ACA396919948MLYCDc.1057G>A (p.Glu353Lys)
c.301+2697G>A
c.258+2697G>A (n.258+2697G>A)
n.3382G>A
16g.83915064G>CCA396919949MLYCDc.1057G>C (p.Glu353Gln)
c.301+2697G>C
c.258+2697G>C (n.258+2697G>C)
n.3382G>C
16g.83915064G=CA2238289939MLYCDc.1057G= (p.Glu353=)
c.301+2697G=
c.258+2697G= (n.258+2697G=)
n.3382G=
16g.83915064G>TCA396919950MLYCDc.1057G>T (p.Glu353Ter)
c.301+2697G>T
c.258+2697G>T (n.258+2697G>T)
n.3382G>T
 gnomAD v4
16g.83915065A=CA2238289941MLYCDc.1058A= (p.Glu353=)
c.301+2698A=
c.258+2698A= (n.258+2698A=)
n.3383A=
16g.83915065A>CCA285430268MLYCDc.1058A>C (p.Glu353Ala)
c.301+2698A>C
c.258+2698A>C (n.258+2698A>C)
n.3383A>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.83915065A>GCA396919951MLYCDc.1058A>G (p.Glu353Gly)
c.301+2698A>G
c.258+2698A>G (n.258+2698A>G)
n.3383A>G
16g.83915065A>TCA396919952MLYCDc.1058A>T (p.Glu353Val)
c.301+2698A>T
c.258+2698A>T (n.258+2698A>T)
n.3383A>T
16g.83915066dupCA497001191MLYCDc.1059dup (p.Leu354ThrfsTer8)
c.301+2699dup
c.258+2699dup (n.258+2699dup)
n.3384dup
 ClinVar dbSNP
16g.83915066A=CA2238289943MLYCDc.1059A= (p.Glu353=)
c.301+2699A=
c.258+2699A= (n.258+2699A=)
n.3384A=
16g.83915066A>CCA396919953MLYCDc.1059A>C (p.Glu353Asp)
c.301+2699A>C
c.258+2699A>C (n.258+2699A>C)
n.3384A>C
 dbSNP gnomAD v2 gnomAD v4
16g.83915066A>GCA497001195MLYCDc.1059A>G (p.Glu353=)
c.301+2699A>G
c.258+2699A>G (n.258+2699A>G)
n.3384A>G
 dbSNP gnomAD v2 gnomAD v4
16g.83915066A>TCA396919954MLYCDc.1059A>T (p.Glu353Asp)
c.301+2699A>T
c.258+2699A>T (n.258+2699A>T)
n.3384A>T
16g.83915067C>ACA396919955MLYCDc.1060C>A (p.Leu354Ile)
c.301+2700C>A
c.258+2700C>A (n.258+2700C>A)
n.3385C>A
16g.83915067C>GCA396919956MLYCDc.1060C>G (p.Leu354Val)
c.301+2700C>G
c.258+2700C>G (n.258+2700C>G)
n.3385C>G
16g.83915067C>TCA396919957MLYCDc.1060C>T (p.Leu354Phe)
c.301+2700C>T
c.258+2700C>T (n.258+2700C>T)
n.3385C>T
16g.83915068T>ACA396919960MLYCDc.1061T>A (p.Leu354His)
c.301+2701T>A
c.258+2701T>A (n.258+2701T>A)
n.3386T>A
16g.83915068T>CCA396919959MLYCDc.1061T>C (p.Leu354Pro)
c.301+2701T>C
c.258+2701T>C (n.258+2701T>C)
n.3386T>C
16g.83915068T>GCA396919958MLYCDc.1061T>G (p.Leu354Arg)
c.301+2701T>G
c.258+2701T>G (n.258+2701T>G)
n.3386T>G
16g.83915069C>ACA497001200MLYCDc.1062C>A (p.Leu354=)
c.301+2702C>A
c.258+2702C>A (n.258+2702C>A)
n.3387C>A
 dbSNP
16g.83915069C=CA2238289947MLYCDc.1062C= (p.Leu354=)
c.301+2702C=
c.258+2702C= (n.258+2702C=)
n.3387C=
16g.83915069C>GCA497001199MLYCDc.1062C>G (p.Leu354=)
c.301+2702C>G
c.258+2702C>G (n.258+2702C>G)
n.3387C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.83915069C>TCA285430272MLYCDc.1062C>T (p.Leu354=)
c.301+2702C>T
c.258+2702C>T (n.258+2702C>T)
n.3387C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.83915069_83915071delinsCTTCA2238289948MLYCDc.1062_1064delinsCTT (p.Leu354=)
c.301+2702_301+2704delinsCTT
c.258+2702_258+2704delinsCTT (n.258+2702_258+2704delinsCTT)
n.3387_3389delinsCTT
16g.83915070T>ACA396919961MLYCDc.1063T>A (p.Phe355Ile)
c.301+2703T>A
c.258+2703T>A (n.258+2703T>A)
n.3388T>A
16g.83915070T>CCA396919962MLYCDc.1063T>C (p.Phe355Leu)
c.301+2703T>C
c.258+2703T>C (n.258+2703T>C)
n.3388T>C
16g.83915070T>GCA396919963MLYCDc.1063T>G (p.Phe355Val)
c.301+2703T>G
c.258+2703T>G (n.258+2703T>G)
n.3388T>G
16g.83915071_83915072delCA891843537MLYCDc.1064_1065del (p.Phe355TyrfsTer6)
c.301+2704_301+2705del
c.258+2704_258+2705del (n.258+2704_258+2705del)
n.3389_3390del
 ClinVar dbSNP gnomAD v4
16g.83915071T>ACA396919964MLYCDc.1064T>A (p.Phe355Tyr)
c.301+2704T>A
c.258+2704T>A (n.258+2704T>A)
n.3389T>A
16g.83915071T>CCA396919965MLYCDc.1064T>C (p.Phe355Ser)
c.301+2704T>C
c.258+2704T>C (n.258+2704T>C)
n.3389T>C
16g.83915071T>GCA396919966MLYCDc.1064T>G (p.Phe355Cys)
c.301+2704T>G
c.258+2704T>G (n.258+2704T>G)
n.3389T>G
16g.83915072T>ACA396919967MLYCDc.1065T>A (p.Phe355Leu)
c.301+2705T>A
c.258+2705T>A (n.258+2705T>A)
n.3390T>A
16g.83915072T>CCA8197493MLYCDc.1065T>C (p.Phe355=)
c.301+2705T>C
c.258+2705T>C (n.258+2705T>C)
n.3390T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.83915072T>GCA396919968MLYCDc.1065T>G (p.Phe355Leu)
c.301+2705T>G
c.258+2705T>G (n.258+2705T>G)
n.3390T>G
16g.83915072T=CA2238289957MLYCDc.1065T= (p.Phe355=)
c.301+2705T=
c.258+2705T= (n.258+2705T=)
n.3390T=
16g.83915073A=CA2238289964MLYCDc.1066A= (p.Thr356=)
c.301+2706A=
c.258+2706A= (n.258+2706A=)
n.3391A=
16g.83915073A>CCA396919969MLYCDc.1066A>C (p.Thr356Pro)
c.301+2706A>C
c.258+2706A>C (n.258+2706A>C)
n.3391A>C
 dbSNP gnomAD v2 gnomAD v4
16g.83915073A>GCA396919970MLYCDc.1066A>G (p.Thr356Ala)
c.301+2706A>G
c.258+2706A>G (n.258+2706A>G)
n.3391A>G
 gnomAD v4
16g.83915073A>TCA396919971MLYCDc.1066A>T (p.Thr356Ser)
c.301+2706A>T
c.258+2706A>T (n.258+2706A>T)
n.3391A>T
16g.83915074C>ACA8197494MLYCDc.1067C>A (p.Thr356Lys)
c.301+2707C>A
c.258+2707C>A (n.258+2707C>A)
n.3392C>A
 dbSNP ExAC gnomAD v2
16g.83915074C=CA2238289971MLYCDc.1067C= (p.Thr356=)
c.301+2707C=
c.258+2707C= (n.258+2707C=)
n.3392C=
16g.83915074C>GCA396919973MLYCDc.1067C>G (p.Thr356Arg)
c.301+2707C>G
c.258+2707C>G (n.258+2707C>G)
n.3392C>G
16g.83915074C>TCA396919972MLYCDc.1067C>T (p.Thr356Ile)
c.301+2707C>T
c.258+2707C>T (n.258+2707C>T)
n.3392C>T
 gnomAD v4
16g.83915075A=CA2238289977MLYCDc.1068A= (p.Thr356=)
c.301+2708A=
c.258+2708A= (n.258+2708A=)
n.3393A=
16g.83915075A>CCA497001211MLYCDc.1068A>C (p.Thr356=)
c.301+2708A>C
c.258+2708A>C (n.258+2708A>C)
n.3393A>C
16g.83915075A>GCA497001208MLYCDc.1068A>G (p.Thr356=)
c.301+2708A>G
c.258+2708A>G (n.258+2708A>G)
n.3393A>G
 dbSNP gnomAD v4
16g.83915075A>TCA497001209MLYCDc.1068A>T (p.Thr356=)
c.301+2708A>T
c.258+2708A>T (n.258+2708A>T)
n.3393A>T
16g.83915076G>ACA396919974MLYCDc.1069G>A (p.Asp357Asn)
c.301+2709G>A
c.258+2709G>A (n.258+2709G>A)
n.3394G>A
16g.83915076G>CCA396919975MLYCDc.1069G>C (p.Asp357His)
c.301+2709G>C
c.258+2709G>C (n.258+2709G>C)
n.3394G>C
 gnomAD v4
16g.83915076G>TCA396919976MLYCDc.1069G>T (p.Asp357Tyr)
c.301+2709G>T
c.258+2709G>T (n.258+2709G>T)
n.3394G>T
16g.83915077A=CA2238289982MLYCDc.1070A= (p.Asp357=)
c.301+2710A=
c.258+2710A= (n.258+2710A=)
n.3395A=
16g.83915077A>CCA396919977MLYCDc.1070A>C (p.Asp357Ala)
c.301+2710A>C
c.258+2710A>C (n.258+2710A>C)
n.3395A>C
16g.83915077A>GCA8197495MLYCDc.1070A>G (p.Asp357Gly)
c.301+2710A>G
c.258+2710A>G (n.258+2710A>G)
n.3395A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.83915077A>TCA396919978MLYCDc.1070A>T (p.Asp357Val)
c.301+2710A>T
c.258+2710A>T (n.258+2710A>T)
n.3395A>T
 gnomAD v4
16g.83915078T>ACA396919979MLYCDc.1071T>A (p.Asp357Glu)
c.301+2711T>A
c.258+2711T>A (n.258+2711T>A)
n.3396T>A
16g.83915078T>CCA497001213MLYCDc.1071T>C (p.Asp357=)
c.301+2711T>C
c.258+2711T>C (n.258+2711T>C)
n.3396T>C
16g.83915078T>GCA396919980MLYCDc.1071T>G (p.Asp357Glu)
c.301+2711T>G
c.258+2711T>G (n.258+2711T>G)
n.3396T>G
16g.83915079T>ACA396919981MLYCDc.1072T>A (p.Ser358Thr)
c.301+2712T>A
c.258+2712T>A (n.258+2712T>A)
n.3397T>A
16g.83915079T>CCA396919982MLYCDc.1072T>C (p.Ser358Pro)
c.301+2712T>C
c.258+2712T>C (n.258+2712T>C)
n.3397T>C
16g.83915079T>GCA396919983MLYCDc.1072T>G (p.Ser358Ala)
c.301+2712T>G
c.258+2712T>G (n.258+2712T>G)
n.3397T>G
16g.83915080C>ACA396919984MLYCDc.1073C>A (p.Ser358Ter)
c.301+2713C>A
c.258+2713C>A (n.258+2713C>A)
n.3398C>A
 gnomAD v4
16g.83915080C=CA2238289992MLYCDc.1073C= (p.Ser358=)
c.301+2713C=
c.258+2713C= (n.258+2713C=)
n.3398C=
16g.83915080C>GCA8197496MLYCDc.1073C>G (p.Ser358Trp)
c.301+2713C>G
c.258+2713C>G (n.258+2713C>G)
n.3398C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.83915080C>TCA8197497MLYCDc.1073C>T (p.Ser358Leu)
c.301+2713C>T
c.258+2713C>T (n.258+2713C>T)
n.3398C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.83915081G>ACA8197498MLYCDc.1074G>A (p.Ser358=)
c.301+2714G>A
c.258+2714G>A (n.258+2714G>A)
n.3399G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.83915081G>CCA497001219MLYCDc.1074G>C (p.Ser358=)
c.301+2714G>C
c.258+2714G>C (n.258+2714G>C)
n.3399G>C
16g.83915081G=CA2238290000MLYCDc.1074G= (p.Ser358=)
c.301+2714G=
c.258+2714G= (n.258+2714G=)
n.3399G=
16g.83915081G>TCA8197499MLYCDc.1074G>T (p.Ser358=)
c.301+2714G>T
c.258+2714G>T (n.258+2714G>T)
n.3399G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.83915082G>ACA396919985MLYCDc.1075G>A (p.Glu359Lys)
c.301+2715G>A
c.258+2715G>A (n.258+2715G>A)
n.3400G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.83915082G>CCA396919986MLYCDc.1075G>C (p.Glu359Gln)
c.301+2715G>C
c.258+2715G>C (n.258+2715G>C)
n.3400G>C
16g.83915082G=CA2238290006MLYCDc.1075G= (p.Glu359=)
c.301+2715G=
c.258+2715G= (n.258+2715G=)
n.3400G=
16g.83915082G>TCA396919987MLYCDc.1075G>T (p.Glu359Ter)
c.301+2715G>T
c.258+2715G>T (n.258+2715G>T)
n.3400G>T
16g.83915083A>CCA396919988MLYCDc.1076A>C (p.Glu359Ala)
c.301+2716A>C
c.258+2716A>C (n.258+2716A>C)
n.3401A>C
16g.83915083A>GCA396919989MLYCDc.1076A>G (p.Glu359Gly)
c.301+2716A>G
c.258+2716A>G (n.258+2716A>G)
n.3401A>G
 gnomAD v4
16g.83915083A>TCA396919990MLYCDc.1076A>T (p.Glu359Val)
c.301+2716A>T
c.258+2716A>T (n.258+2716A>T)
n.3401A>T
16g.83915084A>CCA396919991MLYCDc.1077A>C (p.Glu359Asp)
c.301+2717A>C
c.258+2717A>C (n.258+2717A>C)
n.3402A>C
 ClinVar dbSNP
16g.83915084A>GCA497001225MLYCDc.1077A>G (p.Glu359=)
c.301+2717A>G
c.258+2717A>G (n.258+2717A>G)
n.3402A>G
16g.83915084A>TCA396919992MLYCDc.1077A>T (p.Glu359Asp)
c.301+2717A>T
c.258+2717A>T (n.258+2717A>T)
n.3402A>T
16g.83915085T>ACA396919993MLYCDc.1078T>A (p.Cys360Ser)
c.301+2718T>A
c.258+2718T>A (n.258+2718T>A)
n.3403T>A
16g.83915085T>CCA396919994MLYCDc.1078T>C (p.Cys360Arg)
c.301+2718T>C
c.258+2718T>C (n.258+2718T>C)
n.3403T>C
 dbSNP
16g.83915085T>GCA285430288MLYCDc.1078T>G (p.Cys360Gly)
c.301+2718T>G
c.258+2718T>G (n.258+2718T>G)
n.3403T>G
 dbSNP
16g.83915085T=CA2238290011MLYCDc.1078T= (p.Cys360=)
c.301+2718T=
c.258+2718T= (n.258+2718T=)
n.3403T=
16g.83915086G>ACA396919996MLYCDc.1079G>A (p.Cys360Tyr)
c.301+2719G>A
c.258+2719G>A (n.258+2719G>A)
n.3404G>A
 gnomAD v4
16g.83915086G>CCA396919997MLYCDc.1079G>C (p.Cys360Ser)
c.301+2719G>C
c.258+2719G>C (n.258+2719G>C)
n.3404G>C
16g.83915086G=CA2238290015MLYCDc.1079G= (p.Cys360=)
c.301+2719G=
c.258+2719G= (n.258+2719G=)
n.3404G=
16g.83915086G>TCA396919995MLYCDc.1079G>T (p.Cys360Phe)
c.301+2719G>T
c.258+2719G>T (n.258+2719G>T)
n.3404G>T
 ClinVar dbSNP gnomAD v4
16g.83915087T>ACA396919999MLYCDc.1080T>A (p.Cys360Ter)
c.301+2720T>A
c.258+2720T>A (n.258+2720T>A)
n.3405T>A
16g.83915087T>CCA497001227MLYCDc.1080T>C (p.Cys360=)
c.301+2720T>C
c.258+2720T>C (n.258+2720T>C)
n.3405T>C
16g.83915087T>GCA396919998MLYCDc.1080T>G (p.Cys360Trp)
c.301+2720T>G
c.258+2720T>G (n.258+2720T>G)
n.3405T>G
16g.83915088A=CA2238290022MLYCDc.1081A= (p.Lys361=)
c.301+2721A=
c.258+2721A= (n.258+2721A=)
n.3406A=
16g.83915088A>CCA396920001MLYCDc.1081A>C (p.Lys361Gln)
c.301+2721A>C
c.258+2721A>C (n.258+2721A>C)
n.3406A>C
 gnomAD v4
16g.83915088A>GCA396920000MLYCDc.1081A>G (p.Lys361Glu)
c.301+2721A>G
c.258+2721A>G (n.258+2721A>G)
n.3406A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.83915088A>TCA396920002MLYCDc.1081A>T (p.Lys361Ter)
c.301+2721A>T
c.258+2721A>T (n.258+2721A>T)
n.3406A>T

Number of alleles fetched