MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like

Canonical transcript: NM_015440

253 unique variant annotations were identified in 215 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
6-151187140-G-T c.182G>T p.Cys61Phe Missense 1/28 - 1
6-151187142-CAGCCCCGGCGGCCGAACGCCCGCGGC-C c.184_209del p.Ser62Alafs*37 Frameshift 1/28 - 1
6-151188691-T-C c.227+1506T>C - IntronicSNV - 1/27 4
6-151193451-A-G c.228-3775A>G - IntronicSNV - 1/27 1
6-151194535-A-T c.228-2691A>T - IntronicSNV - 1/27 2
6-151196670-T-C c.228-556T>C - IntronicSNV - 1/27 1
6-151196754-G-A c.228-472G>A - IntronicSNV - 1/27 2
6-151197152-C-G c.228-74C>G - IntronicSNV - 1/27 5
6-151197501-T-A c.312+191T>A - IntronicSNV - 2/27 1
6-151197501-T-C c.312+191T>C - IntronicSNV - 2/27 1
6-151197731-A-G c.312+421A>G - IntronicSNV - 2/27 4
6-151198895-T-C c.364-14T>C - IntronicSNV - 3/27 3
6-151198895-T-G c.364-14T>G - IntronicSNV - 3/27 3
6-151199071-A-G c.417+109A>G - IntronicSNV - 4/27 4
6-151203181-T-C c.418-717T>C - IntronicSNV - 4/27 1
6-151204543-A-G c.542+521A>G - IntronicSNV - 5/27 1
6-151206166-C-T c.543-604C>T - IntronicSNV - 5/27 2
6-151207078-G-A c.643+208G>A - IntronicSNV - 6/27 23
6-151207078-G-T c.643+208G>T - IntronicSNV - 6/27 23
6-151209997-A-G c.780+880A>G - IntronicSNV - 7/27 2
6-151211007-A-G c.780+1890A>G - IntronicSNV - 7/27 1
6-151213211-T-C c.780+4094T>C - IntronicSNV - 7/27 4
6-151215594-A-C c.780+6477A>C - IntronicSNV - 7/27 7
6-151215594-A-G c.780+6477A>G - IntronicSNV - 7/27 7
6-151217919-C-T c.780+8802C>T - IntronicSNV - 7/27 2
6-151219984-T-TA c.781-6802_781-6801insA - IntronicInsertion - 7/27 5
6-151219984-T-TATA c.781-6802_781-6801insATA - IntronicInsertion - 7/27 5
6-151219984-T-TATTATG c.781-6802_781-6801insATTATG - IntronicInsertion - 7/27 5
6-151220245-A-G c.781-6541A>G - IntronicSNV - 7/27 5
6-151220788-A-G c.781-5998A>G - IntronicSNV - 7/27 1
6-151223680-G-A c.781-3106G>A - IntronicSNV - 7/27 1
6-151225565-G-A c.781-1221G>A - IntronicSNV - 7/27 4
6-151225768-A-G c.781-1018A>G - IntronicSNV - 7/27 1
6-151227464-G-T c.892+567G>T - IntronicSNV - 8/27 1
6-151227709-T-C c.892+812T>C - IntronicSNV - 8/27 1
6-151228071-T-C c.892+1174T>C - IntronicSNV - 8/27 1
6-151228287-G-A c.892+1390G>A - IntronicSNV - 8/27 2
6-151229012-G-A c.892+2115G>A - IntronicSNV - 8/27 2
6-151229997-A-G c.892+3100A>G - IntronicSNV - 8/27 4
6-151229997-A-T c.892+3100A>T - IntronicSNV - 8/27 4
6-151230837-G-A c.892+3940G>A - IntronicSNV - 8/27 2
6-151230837-G-C c.892+3940G>C - IntronicSNV - 8/27 2
6-151232070-G-A c.892+5173G>A - IntronicSNV - 8/27 2
6-151236180-C-T c.893-3533C>T - IntronicSNV - 8/27 3
6-151236287-T-G c.893-3426T>G - IntronicSNV - 8/27 1
6-151243234-C-G c.985-107C>G - IntronicSNV - 9/27 2
6-151243234-C-T c.985-107C>T - IntronicSNV - 9/27 2
6-151244261-A-G c.1082+823A>G - IntronicSNV - 10/27 2
6-151244261-A-T c.1082+823A>T - IntronicSNV - 10/27 2
6-151245314-A-C c.1082+1876A>C - IntronicSNV - 10/27 2
6-151245314-A-G c.1082+1876A>G - IntronicSNV - 10/27 2
6-151245988-A-G c.1083-1270A>G - IntronicSNV - 10/27 2
6-151247439-A-G c.1256+8A>G - IntronicSNV - 11/27 3
6-151247439-A-T c.1256+8A>T - IntronicSNV - 11/27 3
6-151247694-T-A c.1256+263T>A - IntronicSNV - 11/27 3
6-151247694-T-C c.1256+263T>C - IntronicSNV - 11/27 3
6-151247867-C-T c.1256+436C>T - IntronicSNV - 11/27 3
6-151250567-T-C c.1256+3136T>C - IntronicSNV - 11/27 1
6-151252917-A-G c.1257-5023A>G - IntronicSNV - 11/27 1
6-151252985-G-A c.1257-4955G>A - IntronicSNV - 11/27 65
6-151252999-T-A c.1257-4941T>A - IntronicSNV - 11/27 1
6-151253382-C-A c.1257-4558C>A - IntronicSNV - 11/27 2
6-151253382-C-G c.1257-4558C>G - IntronicSNV - 11/27 2
6-151253382-C-T c.1257-4558C>T - IntronicSNV - 11/27 2
6-151254714-A-T c.1257-3226A>T - IntronicSNV - 11/27 3
6-151255053-G-A c.1257-2887G>A - IntronicSNV - 11/27 1
6-151255053-G-T c.1257-2887G>T - IntronicSNV - 11/27 1
6-151255075-G-A c.1257-2865G>A - IntronicSNV - 11/27 1
6-151255075-G-T c.1257-2865G>T - IntronicSNV - 11/27 1
6-151255129-T-G c.1257-2811T>G - IntronicSNV - 11/27 1
6-151255434-A-G c.1257-2506A>G - IntronicSNV - 11/27 2
6-151255434-A-T c.1257-2506A>T - IntronicSNV - 11/27 2
6-151255774-T-C c.1257-2166T>C - IntronicSNV - 11/27 1
6-151257985-C-T c.1302C>T p.Ile434Ile Synonymous 12/28 - 1
6-151258110-G-T c.1393+34G>T - IntronicSNV - 12/27 1
6-151258311-G-A c.1393+235G>A - IntronicSNV - 12/27 1
6-151258770-T-C c.1393+694T>C - IntronicSNV - 12/27 3
6-151259770-C-G c.1394-65C>G - IntronicSNV - 12/27 2
6-151260063-G-A c.1440+182G>A - IntronicSNV - 13/27 1
6-151260229-A-G c.1440+348A>G - IntronicSNV - 13/27 1
6-151260229-A-T c.1440+348A>T - IntronicSNV - 13/27 1
6-151260346-A-G c.1440+465A>G - IntronicSNV - 13/27 1
6-151260473-C-A c.1440+592C>A - IntronicSNV - 13/27 1
6-151260473-C-T c.1440+592C>T - IntronicSNV - 13/27 1
6-151261539-G-A c.1440+1658G>A - IntronicSNV - 13/27 1
6-151261637-C-T c.1440+1756C>T - IntronicSNV - 13/27 2
6-151263456-A-G c.1441-2166A>G - IntronicSNV - 13/27 1
6-151263534-A-G c.1441-2088A>G - IntronicSNV - 13/27 2
6-151264132-T-C c.1441-1490T>C - IntronicSNV - 13/27 1
6-151264778-A-G c.1441-844A>G - IntronicSNV - 13/27 1
6-151265214-G-A c.1441-408G>A - IntronicSNV - 13/27 4
6-151265695-C-T c.1514C>T p.Thr505Met Missense 14/28 - 1
6-151266564-T-C c.1549-39T>C - IntronicSNV - 14/27 3
6-151269289-A-G c.1624-878A>G - IntronicSNV - 15/27 1
6-151270231-G-A c.1688G>A p.Arg563His Missense 16/28 - 2
6-151270231-G-T c.1688G>T p.Arg563Leu Missense 16/28 - 2
6-151270495-T-A c.1726+226T>A - IntronicSNV - 16/27 3
6-151270495-T-C c.1726+226T>C - IntronicSNV - 16/27 3
6-151270495-T-G c.1726+226T>G - IntronicSNV - 16/27 3
6-151271130-T-C c.1726+861T>C - IntronicSNV - 16/27 1
6-151271356-G-A c.1726+1087G>A - IntronicSNV - 16/27 3
6-151272796-C-T c.1726+2527C>T - IntronicSNV - 16/27 2
6-151272921-T-C c.1726+2652T>C - IntronicSNV - 16/27 1
6-151275373-T-A c.1727-1758T>A - IntronicSNV - 16/27 1
6-151275373-T-C c.1727-1758T>C - IntronicSNV - 16/27 1
6-151278172-G-A c.1803+965G>A - IntronicSNV - 17/27 1
6-151278724-C-T c.1803+1517C>T - IntronicSNV - 17/27 1
6-151279026-G-A c.1803+1819G>A - IntronicSNV - 17/27 1
6-151280388-T-C c.1804-1023T>C - IntronicSNV - 17/27 1
6-151280919-T-C c.1804-492T>C - IntronicSNV - 17/27 3
6-151281448-C-T c.1841C>T p.Ala614Val Missense 18/28 - 2
6-151281567-T-C c.1944+16T>C - IntronicSNV - 18/27 2
6-151281567-T-G c.1944+16T>G - IntronicSNV - 18/27 2
6-151281668-T-C c.1944+117T>C - IntronicSNV - 18/27 1
6-151281707-A-G c.1944+156A>G - IntronicSNV - 18/27 1
6-151282026-T-C c.1944+475T>C - IntronicSNV - 18/27 1
6-151282731-G-A c.1944+1180G>A - IntronicSNV - 18/27 1
6-151285564-C-G c.1945-541C>G - IntronicSNV - 18/27 1
6-151285564-C-T c.1945-541C>T - IntronicSNV - 18/27 1
6-151286224-A-C c.2013+51A>C - IntronicSNV - 19/27 1
6-151286970-A-G c.2013+797A>G - IntronicSNV - 19/27 1
6-151288991-T-C c.2013+2818T>C - IntronicSNV - 19/27 3
6-151289176-C-A c.2013+3003C>A - IntronicSNV - 19/27 1
6-151289442-T-C c.2013+3269T>C - IntronicSNV - 19/27 2
6-151291193-G-T c.2014-1890G>T - IntronicSNV - 19/27 2
6-151294893-C-T c.2125+1699C>T - IntronicSNV - 20/27 1
6-151297910-T-C c.2125+4716T>C - IntronicSNV - 20/27 1
6-151298201-T-G c.2125+5007T>G - IntronicSNV - 20/27 1
6-151298909-A-G c.2125+5715A>G - IntronicSNV - 20/27 1
6-151299407-A-G c.2125+6213A>G - IntronicSNV - 20/27 1
6-151299724-T-A c.2125+6530T>A - IntronicSNV - 20/27 1
6-151299796-C-T c.2125+6602C>T - IntronicSNV - 20/27 1
6-151300032-C-A c.2125+6838C>A - IntronicSNV - 20/27 2
6-151301951-T-C c.2125+8757T>C - IntronicSNV - 20/27 1
6-151303497-A-G c.2125+10303A>G - IntronicSNV - 20/27 1
6-151306321-G-T c.2125+13127G>T - IntronicSNV - 20/27 1
6-151306454-G-A c.2125+13260G>A - IntronicSNV - 20/27 1
6-151306916-A-G c.2125+13722A>G - IntronicSNV - 20/27 1
6-151308395-G-A c.2125+15201G>A - IntronicSNV - 20/27 2
6-151308395-G-C c.2125+15201G>C - IntronicSNV - 20/27 2
6-151310274-G-A c.2125+17080G>A - IntronicSNV - 20/27 2
6-151311055-C-A c.2125+17861C>A - IntronicSNV - 20/27 3
6-151311055-C-G c.2125+17861C>G - IntronicSNV - 20/27 3
6-151311055-C-T c.2125+17861C>T - IntronicSNV - 20/27 3
6-151312648-A-T c.2126-18307A>T - IntronicSNV - 20/27 1
6-151313367-A-G c.2126-17588A>G - IntronicSNV - 20/27 2
6-151314841-G-A c.2126-16114G>A - IntronicSNV - 20/27 2
6-151314841-G-C c.2126-16114G>C - IntronicSNV - 20/27 2
6-151314841-G-T c.2126-16114G>T - IntronicSNV - 20/27 2
6-151315581-G-C c.2126-15374G>C - IntronicSNV - 20/27 2
6-151317192-A-G c.2126-13763A>G - IntronicSNV - 20/27 3
6-151317192-A-T c.2126-13763A>T - IntronicSNV - 20/27 3
6-151318079-C-T c.2126-12876C>T - IntronicSNV - 20/27 2
6-151318445-T-C c.2126-12510T>C - IntronicSNV - 20/27 1
6-151319827-C-G c.2126-11128C>G - IntronicSNV - 20/27 1
6-151319827-C-T c.2126-11128C>T - IntronicSNV - 20/27 1
6-151321865-G-T c.2126-9090G>T - IntronicSNV - 20/27 1
6-151322175-C-T c.2126-8780C>T - IntronicSNV - 20/27 2
6-151322448-A-G c.2126-8507A>G - IntronicSNV - 20/27 2
6-151327033-A-G c.2126-3922A>G - IntronicSNV - 20/27 2
6-151327559-G-A c.2126-3396G>A - IntronicSNV - 20/27 2
6-151327692-G-A c.2126-3263G>A - IntronicSNV - 20/27 1
6-151327692-G-C c.2126-3263G>C - IntronicSNV - 20/27 1
6-151327692-G-T c.2126-3263G>T - IntronicSNV - 20/27 1
6-151327848-G-A c.2126-3107G>A - IntronicSNV - 20/27 3
6-151327946-A-C c.2126-3009A>C - IntronicSNV - 20/27 3
6-151332723-A-C c.2265+1629A>C - IntronicSNV - 21/27 2
6-151332723-A-G c.2265+1629A>G - IntronicSNV - 21/27 2
6-151333835-T-C c.2266-1080T>C - IntronicSNV - 21/27 2
6-151335695-T-A c.2308-321T>A - IntronicSNV - 22/27 1
6-151336313-T-G c.2408+197T>G - IntronicSNV - 23/27 1
6-151336663-G-A c.2420G>A p.Arg807His Missense 24/28 - 1
6-151336739-C-A c.2496C>A p.Ser832Ser Synonymous 24/28 - 4
6-151336739-C-G c.2496C>G p.Ser832Ser Synonymous 24/28 - 4
6-151336739-C-T c.2496C>T p.Ser832Ser Synonymous 24/28 - 4
6-151336773-G-T c.2530G>T p.Ala844Ser Missense 24/28 - 1
6-151339442-C-A c.2586+2613C>A - IntronicSNV - 24/27 3
6-151339442-C-T c.2586+2613C>T - IntronicSNV - 24/27 3
6-151340454-C-T c.2586+3625C>T - IntronicSNV - 24/27 1
6-151341298-T-C c.2586+4469T>C - IntronicSNV - 24/27 2
6-151343395-C-G c.2586+6566C>G - IntronicSNV - 24/27 2
6-151351540-G-A c.2587-4089G>A - IntronicSNV - 24/27 1
6-151357273-A-C c.2695-828A>C - IntronicSNV - 25/27 2
6-151357273-A-G c.2695-828A>G - IntronicSNV - 25/27 2
6-151357966-G-A c.2695-135G>A - IntronicSNV - 25/27 1
6-151358299-T-C c.2847+46T>C - IntronicSNV - 26/27 3
6-151358325-G-A c.2847+72G>A - IntronicSNV - 26/27 1
6-151358325-G-T c.2847+72G>T - IntronicSNV - 26/27 1
6-151360058-G-T c.2847+1805G>T - IntronicSNV - 26/27 3
6-151361393-G-A c.2847+3140G>A - IntronicSNV - 26/27 1
6-151362079-T-C c.2847+3826T>C - IntronicSNV - 26/27 1
6-151364186-A-G c.2847+5933A>G - IntronicSNV - 26/27 1
6-151364186-A-T c.2847+5933A>T - IntronicSNV - 26/27 1
6-151364808-G-A c.2847+6555G>A - IntronicSNV - 26/27 1
6-151368916-T-A c.2847+10663T>A - IntronicSNV - 26/27 3
6-151369668-A-G c.2847+11415A>G - IntronicSNV - 26/27 1
6-151373655-A-T c.2847+15402A>T - IntronicSNV - 26/27 3
6-151379322-T-A c.2847+21069T>A - IntronicSNV - 26/27 1
6-151379664-A-G c.2847+21411A>G - IntronicSNV - 26/27 1
6-151381877-G-A c.2847+23624G>A - IntronicSNV - 26/27 1
6-151383586-T-C c.2847+25333T>C - IntronicSNV - 26/27 1
6-151385332-C-T c.2847+27079C>T - IntronicSNV - 26/27 2
6-151386957-A-G c.2848-26646A>G - IntronicSNV - 26/27 1
6-151387215-T-C c.2848-26388T>C - IntronicSNV - 26/27 1
6-151388060-A-G c.2848-25543A>G - IntronicSNV - 26/27 1
6-151388060-A-T c.2848-25543A>T - IntronicSNV - 26/27 1
6-151388867-C-T c.2848-24736C>T - IntronicSNV - 26/27 3
6-151389129-G-T c.2848-24474G>T - IntronicSNV - 26/27 2
6-151391321-T-C c.2848-22282T>C - IntronicSNV - 26/27 2
6-151391661-A-C c.2848-21942A>C - IntronicSNV - 26/27 1
6-151392033-G-C c.2848-21570G>C - IntronicSNV - 26/27 2
6-151392209-A-G c.2848-21394A>G - IntronicSNV - 26/27 5
6-151392273-A-G c.2848-21330A>G - IntronicSNV - 26/27 2
6-151392703-G-A c.2848-20900G>A - IntronicSNV - 26/27 1
6-151392703-G-C c.2848-20900G>C - IntronicSNV - 26/27 1
6-151392703-G-T c.2848-20900G>T - IntronicSNV - 26/27 1
6-151392963-G-A c.2848-20640G>A - IntronicSNV - 26/27 1
6-151392963-G-T c.2848-20640G>T - IntronicSNV - 26/27 1
6-151393024-A-C c.2848-20579A>C - IntronicSNV - 26/27 1
6-151393024-A-G c.2848-20579A>G - IntronicSNV - 26/27 1
6-151394114-G-A c.2848-19489G>A - IntronicSNV - 26/27 2
6-151394388-G-A c.2848-19215G>A - IntronicSNV - 26/27 1
6-151394388-G-C c.2848-19215G>C - IntronicSNV - 26/27 1
6-151394562-G-T c.2848-19041G>T - IntronicSNV - 26/27 2
6-151395408-G-C c.2848-18195G>C - IntronicSNV - 26/27 2
6-151396028-T-C c.2848-17575T>C - IntronicSNV - 26/27 1
6-151396028-T-G c.2848-17575T>G - IntronicSNV - 26/27 1
6-151396691-T-G c.2848-16912T>G - IntronicSNV - 26/27 2
6-151397186-G-A c.2848-16417G>A - IntronicSNV - 26/27 1
6-151399891-A-G c.2848-13712A>G - IntronicSNV - 26/27 2
6-151399891-A-T c.2848-13712A>T - IntronicSNV - 26/27 2
6-151400154-G-A c.2848-13449G>A - IntronicSNV - 26/27 1
6-151403148-G-A c.2848-10455G>A - IntronicSNV - 26/27 3
6-151403148-G-C c.2848-10455G>C - IntronicSNV - 26/27 3
6-151403924-C-T c.2848-9679C>T - IntronicSNV - 26/27 2
6-151404303-G-A c.2848-9300G>A - IntronicSNV - 26/27 1
6-151404303-G-C c.2848-9300G>C - IntronicSNV - 26/27 1
6-151405377-A-T c.2848-8226A>T - IntronicSNV - 26/27 4
6-151407136-G-A c.2848-6467G>A - IntronicSNV - 26/27 2
6-151412754-C-G c.2848-849C>G - IntronicSNV - 26/27 1
6-151412754-C-T c.2848-849C>T - IntronicSNV - 26/27 1
6-151413812-A-G c.*120A>G - IntronicSNV 28/28 - 6
6-151413812-A-T c.*120A>T - IntronicSNV 28/28 - 6
6-151414017-A-G c.*325A>G - IntronicSNV 28/28 - 2
6-151415092-T-A c.*31+1369T>A - IntronicSNV - 27/27 3
6-151418320-A-G c.*32-4342A>G - intron_variant - 27/27 1
6-151419806-T-G c.*32-2856T>G - intron_variant - 27/27 1
6-151421592-T-C c.*32-1070T>C - intron_variant - 27/27 1
6-151421592-T-G c.*32-1070T>G - intron_variant - 27/27 1
6-151422414-T-C c.*32-248T>C - intron_variant - 27/27 1
6-151422835-C-G c.*205C>G - 3_prime_UTR_variant 28/28 - 3
6-151422835-C-T c.*205C>T - 3_prime_UTR_variant 28/28 - 3
6-151422936-G-A c.*306G>A - 3_prime_UTR_variant 28/28 - 2