Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.74493141_74493177delCA2615095437LIPT2c.466+65_466+101del (n.466+65_466+101del)
c.116+27_116+63del
c.181+294_181+330del
c.504+27_504+63del (n.504+27_504+63del)
c.237+294_237+330del (n.237+294_237+330del)
 gnomAD v4
11g.74493144_74493187delCA2615095441LIPT2c.466+55_466+98del (n.466+55_466+98del)
c.116+17_116+60del
c.181+284_181+327del
c.504+17_504+60del (n.504+17_504+60del)
c.237+284_237+327del (n.237+284_237+327del)
 gnomAD v4
11g.74493145_74493181delCA2615095447LIPT2c.466+60_466+96del (n.466+60_466+96del)
c.116+22_116+58del
c.181+289_181+325del
c.504+22_504+58del (n.504+22_504+58del)
c.237+289_237+325del (n.237+289_237+325del)
 gnomAD v4
11g.74493148_74493210delCA2615095452LIPT2c.466+32_466+94del (n.466+32_466+94del)
c.110_116+56del
c.181+261_181+323del
c.498_504+56del
c.237+261_237+323del (n.237+261_237+323del)
 gnomAD v4
11g.74493170A>CCA2615095490LIPT2c.466+68T>G (n.466+68T>G)
c.116+30T>G
c.181+297T>G
c.504+30T>G (n.504+30T>G)
c.237+297T>G (n.237+297T>G)
 gnomAD v4
11g.74493170A>GCA2615095491LIPT2c.466+68T>C (n.466+68T>C)
c.116+30T>C
c.181+297T>C
c.504+30T>C (n.504+30T>C)
c.237+297T>C (n.237+297T>C)
 gnomAD v4
11g.74493170A>TCA2574923165LIPT2c.466+68T>A (n.466+68T>A)
c.116+30T>A
c.181+297T>A
c.504+30T>A (n.504+30T>A)
c.237+297T>A (n.237+297T>A)
 gnomAD v4
11g.74493171G>ACA2615095492LIPT2c.466+67C>T (n.466+67C>T)
c.116+29C>T
c.181+296C>T
c.504+29C>T (n.504+29C>T)
c.237+296C>T (n.237+296C>T)
 gnomAD v4
11g.74493171G>CCA1982908628LIPT2c.466+67C>G (n.466+67C>G)
c.116+29C>G
c.181+296C>G
c.504+29C>G (n.504+29C>G)
c.237+296C>G (n.237+296C>G)
 dbSNP
11g.74493171G=CA1982908627LIPT2c.466+67C= (n.466+67C=)
c.116+29C=
c.181+296C=
c.504+29C= (n.504+29C=)
c.237+296C= (n.237+296C=)
11g.74493171G>TCA2615095493LIPT2c.466+67C>A (n.466+67C>A)
c.116+29C>A
c.181+296C>A
c.504+29C>A (n.504+29C>A)
c.237+296C>A (n.237+296C>A)
 gnomAD v4
11g.74493172A=CA1982908629LIPT2c.466+66T= (n.466+66T=)
c.116+28T=
c.181+295T=
c.504+28T= (n.504+28T=)
c.237+295T= (n.237+295T=)
11g.74493172A>CCA2615095494LIPT2c.466+66T>G (n.466+66T>G)
c.116+28T>G
c.181+295T>G
c.504+28T>G (n.504+28T>G)
c.237+295T>G (n.237+295T>G)
 gnomAD v4
11g.74493172A>GCA224979260LIPT2c.466+66T>C (n.466+66T>C)
c.116+28T>C
c.181+295T>C
c.504+28T>C (n.504+28T>C)
c.237+295T>C (n.237+295T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.74493172A>TCA2615095495LIPT2c.466+66T>A (n.466+66T>A)
c.116+28T>A
c.181+295T>A
c.504+28T>A (n.504+28T>A)
c.237+295T>A (n.237+295T>A)
 gnomAD v4
11g.74493173C>ACA2615095497LIPT2c.466+65G>T (n.466+65G>T)
c.116+27G>T
c.181+294G>T
c.504+27G>T (n.504+27G>T)
c.237+294G>T (n.237+294G>T)
 gnomAD v4
11g.74493173C>TCA2549497997LIPT2c.466+65G>A (n.466+65G>A)
c.116+27G>A
c.181+294G>A
c.504+27G>A (n.504+27G>A)
c.237+294G>A (n.237+294G>A)
 gnomAD v4
11g.74493174_74493176dupCA2615095496LIPT2c.466+63_466+65dup (n.466+63_466+65dup)
c.116+25_116+27dup
c.181+292_181+294dup
c.504+25_504+27dup (n.504+25_504+27dup)
c.237+292_237+294dup (n.237+292_237+294dup)
 gnomAD v4
11g.74493174C>ACA2615095499LIPT2c.466+64G>T (n.466+64G>T)
c.116+26G>T
c.181+293G>T
c.504+26G>T (n.504+26G>T)
c.237+293G>T (n.237+293G>T)
 gnomAD v4
11g.74493174C>TCA2615095498LIPT2c.466+64G>A (n.466+64G>A)
c.116+26G>A
c.181+293G>A
c.504+26G>A (n.504+26G>A)
c.237+293G>A (n.237+293G>A)
 gnomAD v4
11g.74493175C>ACA2615095500LIPT2c.466+63G>T (n.466+63G>T)
c.116+25G>T
c.181+292G>T
c.504+25G>T (n.504+25G>T)
c.237+292G>T (n.237+292G>T)
 gnomAD v4
11g.74493175C>GCA2615095501LIPT2c.466+63G>C (n.466+63G>C)
c.116+25G>C
c.181+292G>C
c.504+25G>C (n.504+25G>C)
c.237+292G>C (n.237+292G>C)
 gnomAD v4
11g.74493175C>TCA2615095502LIPT2c.466+63G>A (n.466+63G>A)
c.116+25G>A
c.181+292G>A
c.504+25G>A (n.504+25G>A)
c.237+292G>A (n.237+292G>A)
 gnomAD v4
11g.74493176C>ACA2615095503LIPT2c.466+62G>T (n.466+62G>T)
c.116+24G>T
c.181+291G>T
c.504+24G>T (n.504+24G>T)
c.237+291G>T (n.237+291G>T)
 gnomAD v4
11g.74493176C>TCA2615095504LIPT2c.466+62G>A (n.466+62G>A)
c.116+24G>A
c.181+291G>A
c.504+24G>A (n.504+24G>A)
c.237+291G>A (n.237+291G>A)
 gnomAD v4
11g.74493177G>ACA600712340LIPT2c.466+61C>T (n.466+61C>T)
c.116+23C>T
c.181+290C>T
c.504+23C>T (n.504+23C>T)
c.237+290C>T (n.237+290C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.74493177G>CCA2615095505LIPT2c.466+61C>G (n.466+61C>G)
c.116+23C>G
c.181+290C>G
c.504+23C>G (n.504+23C>G)
c.237+290C>G (n.237+290C>G)
 gnomAD v4
11g.74493177G=CA1982908630LIPT2c.466+61C= (n.466+61C=)
c.116+23C=
c.181+290C=
c.504+23C= (n.504+23C=)
c.237+290C= (n.237+290C=)
11g.74493177G>TCA2615095506LIPT2c.466+61C>A (n.466+61C>A)
c.116+23C>A
c.181+290C>A
c.504+23C>A (n.504+23C>A)
c.237+290C>A (n.237+290C>A)
 gnomAD v4
11g.74493177_74493178delinsGCCA1982908631LIPT2c.466+60_466+61delinsGC (n.466+60_466+61delinsGC)
c.116+22_116+23delinsGC
c.181+289_181+290delinsGC
c.504+22_504+23delinsGC (n.504+22_504+23delinsGC)
c.237+289_237+290delinsGC (n.237+289_237+290delinsGC)
11g.74493178C>ACA2615095508LIPT2c.466+60G>T (n.466+60G>T)
c.116+22G>T
c.181+289G>T
c.504+22G>T (n.504+22G>T)
c.237+289G>T (n.237+289G>T)
 gnomAD v4
11g.74493178C>GCA2615095509LIPT2c.466+60G>C (n.466+60G>C)
c.116+22G>C
c.181+289G>C
c.504+22G>C (n.504+22G>C)
c.237+289G>C (n.237+289G>C)
 gnomAD v4
11g.74493178C>TCA2615095510LIPT2c.466+60G>A (n.466+60G>A)
c.116+22G>A
c.181+289G>A
c.504+22G>A (n.504+22G>A)
c.237+289G>A (n.237+289G>A)
 gnomAD v4
11g.74493182dupCA2615095507LIPT2c.466+60dup (n.466+60dup)
c.116+22dup
c.181+289dup
c.504+22dup (n.504+22dup)
c.237+289dup (n.237+289dup)
 gnomAD v4
11g.74493182delCA600712341LIPT2c.466+60del (n.466+60del)
c.116+22del
c.181+289del
c.504+22del (n.504+22del)
c.237+289del (n.237+289del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.74493179C>ACA2615095512LIPT2c.466+59G>T (n.466+59G>T)
c.116+21G>T
c.181+288G>T
c.504+21G>T (n.504+21G>T)
c.237+288G>T (n.237+288G>T)
 gnomAD v4
11g.74493179C>GCA2615095511LIPT2c.466+59G>C (n.466+59G>C)
c.116+21G>C
c.181+288G>C
c.504+21G>C (n.504+21G>C)
c.237+288G>C (n.237+288G>C)
 gnomAD v4
11g.74493180C>ACA2615095513LIPT2c.466+58G>T (n.466+58G>T)
c.116+20G>T
c.181+287G>T
c.504+20G>T (n.504+20G>T)
c.237+287G>T (n.237+287G>T)
 gnomAD v4
11g.74493180C=CA1982908632LIPT2c.466+58G= (n.466+58G=)
c.116+20G=
c.181+287G=
c.504+20G= (n.504+20G=)
c.237+287G= (n.237+287G=)
11g.74493180C>TCA1982908633LIPT2c.466+58G>A (n.466+58G>A)
c.116+20G>A
c.181+287G>A
c.504+20G>A (n.504+20G>A)
c.237+287G>A (n.237+287G>A)
 dbSNP
11g.74493181C>ACA2615095514LIPT2c.466+57G>T (n.466+57G>T)
c.116+19G>T
c.181+286G>T
c.504+19G>T (n.504+19G>T)
c.237+286G>T (n.237+286G>T)
 gnomAD v4
11g.74493181C>TCA2574923166LIPT2c.466+57G>A (n.466+57G>A)
c.116+19G>A
c.181+286G>A
c.504+19G>A (n.504+19G>A)
c.237+286G>A (n.237+286G>A)
 gnomAD v4
11g.74493182C>ACA2574923167LIPT2c.466+56G>T (n.466+56G>T)
c.116+18G>T
c.181+285G>T
c.504+18G>T (n.504+18G>T)
c.237+285G>T (n.237+285G>T)
 gnomAD v4
11g.74493182C=CA1982908634LIPT2c.466+56G= (n.466+56G=)
c.116+18G=
c.181+285G=
c.504+18G= (n.504+18G=)
c.237+285G= (n.237+285G=)
11g.74493182C>TCA2615095515LIPT2c.466+56G>A (n.466+56G>A)
c.116+18G>A
c.181+285G>A
c.504+18G>A (n.504+18G>A)
c.237+285G>A (n.237+285G>A)
 gnomAD v4
11g.74493183A>CCA2615095516LIPT2c.466+55T>G (n.466+55T>G)
c.116+17T>G
c.181+284T>G
c.504+17T>G (n.504+17T>G)
c.237+284T>G (n.237+284T>G)
 gnomAD v4
11g.74493183A>GCA2615095517LIPT2c.466+55T>C (n.466+55T>C)
c.116+17T>C
c.181+284T>C
c.504+17T>C (n.504+17T>C)
c.237+284T>C (n.237+284T>C)
 gnomAD v4
11g.74493183A>TCA2615095518LIPT2c.466+55T>A (n.466+55T>A)
c.116+17T>A
c.181+284T>A
c.504+17T>A (n.504+17T>A)
c.237+284T>A (n.237+284T>A)
 gnomAD v4
11g.74493183dupCA1982908635LIPT2c.466+55dup (n.466+55dup)
c.116+17dup
c.181+284dup
c.504+17dup (n.504+17dup)
c.237+284dup (n.237+284dup)
 dbSNP
11g.74493184G>ACA224979261LIPT2c.466+54C>T (n.466+54C>T)
c.116+16C>T
c.181+283C>T
c.504+16C>T (n.504+16C>T)
c.237+283C>T (n.237+283C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.74493184G=CA1982908636LIPT2c.466+54C= (n.466+54C=)
c.116+16C=
c.181+283C=
c.504+16C= (n.504+16C=)
c.237+283C= (n.237+283C=)
11g.74493184G>TCA939597098LIPT2c.466+54C>A (n.466+54C>A)
c.116+16C>A
c.181+283C>A
c.504+16C>A (n.504+16C>A)
c.237+283C>A (n.237+283C>A)
 dbSNP gnomAD v3 gnomAD v4
11g.74493185G>ACA2615095519LIPT2c.466+53C>T (n.466+53C>T)
c.116+15C>T
c.181+282C>T
c.504+15C>T (n.504+15C>T)
c.237+282C>T (n.237+282C>T)
 gnomAD v4
11g.74493185G>CCA2615095520LIPT2c.466+53C>G (n.466+53C>G)
c.116+15C>G
c.181+282C>G
c.504+15C>G (n.504+15C>G)
c.237+282C>G (n.237+282C>G)
 gnomAD v4
11g.74493185G>TCA2615095521LIPT2c.466+53C>A (n.466+53C>A)
c.116+15C>A
c.181+282C>A
c.504+15C>A (n.504+15C>A)
c.237+282C>A (n.237+282C>A)
 gnomAD v4
11g.74493186C>ACA2615095523LIPT2c.466+52G>T (n.466+52G>T)
c.116+14G>T
c.181+281G>T
c.504+14G>T (n.504+14G>T)
c.237+281G>T (n.237+281G>T)
 gnomAD v4
11g.74493186C>TCA2615095522LIPT2c.466+52G>A (n.466+52G>A)
c.116+14G>A
c.181+281G>A
c.504+14G>A (n.504+14G>A)
c.237+281G>A (n.237+281G>A)
 gnomAD v4
11g.74493187C>ACA2615095524LIPT2c.466+51G>T (n.466+51G>T)
c.116+13G>T
c.181+280G>T
c.504+13G>T (n.504+13G>T)
c.237+280G>T (n.237+280G>T)
 gnomAD v4
11g.74493187C>TCA2615095525LIPT2c.466+51G>A (n.466+51G>A)
c.116+13G>A
c.181+280G>A
c.504+13G>A (n.504+13G>A)
c.237+280G>A (n.237+280G>A)
 gnomAD v4
11g.74493188T>ACA2615095526LIPT2c.466+50A>T (n.466+50A>T)
c.116+12A>T
c.181+279A>T
c.504+12A>T (n.504+12A>T)
c.237+279A>T (n.237+279A>T)
 gnomAD v4
11g.74493188T>CCA600712342LIPT2c.466+50A>G (n.466+50A>G)
c.116+12A>G
c.181+279A>G
c.504+12A>G (n.504+12A>G)
c.237+279A>G (n.237+279A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.74493188T>GCA939597101LIPT2c.466+50A>C (n.466+50A>C)
c.116+12A>C
c.181+279A>C
c.504+12A>C (n.504+12A>C)
c.237+279A>C (n.237+279A>C)
 dbSNP gnomAD v3 gnomAD v4
11g.74493188T=CA1982908637LIPT2c.466+50A= (n.466+50A=)
c.116+12A=
c.181+279A=
c.504+12A= (n.504+12A=)
c.237+279A= (n.237+279A=)
11g.74493189C>ACA2615095527LIPT2c.466+49G>T (n.466+49G>T)
c.116+11G>T
c.181+278G>T
c.504+11G>T (n.504+11G>T)
c.237+278G>T (n.237+278G>T)
 gnomAD v4
11g.74493190A>GCA2615095528LIPT2c.466+48T>C (n.466+48T>C)
c.116+10T>C
c.181+277T>C
c.504+10T>C (n.504+10T>C)
c.237+277T>C (n.237+277T>C)
 gnomAD v4
11g.74493191A=CA1982908638LIPT2c.466+47T= (n.466+47T=)
c.116+9T=
c.181+276T=
c.504+9T= (n.504+9T=)
c.237+276T= (n.237+276T=)
11g.74493191A>CCA2615095529LIPT2c.466+47T>G (n.466+47T>G)
c.116+9T>G
c.181+276T>G
c.504+9T>G (n.504+9T>G)
c.237+276T>G (n.237+276T>G)
 gnomAD v4
11g.74493191A>GCA224979262LIPT2c.466+47T>C (n.466+47T>C)
c.116+9T>C
c.181+276T>C
c.504+9T>C (n.504+9T>C)
c.237+276T>C (n.237+276T>C)
 dbSNP gnomAD v4
11g.74493192G>ACA2615095530LIPT2c.466+46C>T (n.466+46C>T)
c.116+8C>T
c.181+275C>T
c.504+8C>T (n.504+8C>T)
c.237+275C>T (n.237+275C>T)
 gnomAD v4
11g.74493192G>TCA2574923168LIPT2c.466+46C>A (n.466+46C>A)
c.116+8C>A
c.181+275C>A
c.504+8C>A (n.504+8C>A)
c.237+275C>A (n.237+275C>A)
 gnomAD v4
11g.74493193C>ACA2574923169LIPT2c.466+45G>T (n.466+45G>T)
c.116+7G>T
c.181+274G>T
c.504+7G>T (n.504+7G>T)
c.237+274G>T (n.237+274G>T)
 gnomAD v4
11g.74493193C=CA1982908639LIPT2c.466+45G= (n.466+45G=)
c.116+7G=
c.181+274G=
c.504+7G= (n.504+7G=)
c.237+274G= (n.237+274G=)
11g.74493193C>TCA224979263LIPT2c.466+45G>A (n.466+45G>A)
c.116+7G>A
c.181+274G>A
c.504+7G>A (n.504+7G>A)
c.237+274G>A (n.237+274G>A)
 dbSNP gnomAD v3 gnomAD v4
11g.74493194T>ACA2615095531LIPT2c.466+44A>T (n.466+44A>T)
c.116+6A>T
c.181+273A>T
c.504+6A>T (n.504+6A>T)
c.237+273A>T (n.237+273A>T)
 gnomAD v4
11g.74493194T>CCA2570254840LIPT2c.466+44A>G (n.466+44A>G)
c.116+6A>G
c.181+273A>G
c.504+6A>G (n.504+6A>G)
c.237+273A>G (n.237+273A>G)
 gnomAD v4
11g.74493195C>ACA224979264LIPT2c.466+43G>T (n.466+43G>T)
c.116+5G>T
c.181+272G>T
c.504+5G>T (n.504+5G>T)
c.237+272G>T (n.237+272G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.74493195C=CA1982908640LIPT2c.466+43G= (n.466+43G=)
c.116+5G=
c.181+272G=
c.504+5G= (n.504+5G=)
c.237+272G= (n.237+272G=)
11g.74493195C>TCA2615095532LIPT2c.466+43G>A (n.466+43G>A)
c.116+5G>A
c.181+272G>A
c.504+5G>A (n.504+5G>A)
c.237+272G>A (n.237+272G>A)
 gnomAD v4
11g.74493196C>ACA600712343LIPT2c.466+42G>T (n.466+42G>T)
c.116+4G>T
c.181+271G>T
c.504+4G>T (n.504+4G>T)
c.237+271G>T (n.237+271G>T)
 dbSNP gnomAD v2 gnomAD v4
11g.74493196C=CA1982908641LIPT2c.466+42G= (n.466+42G=)
c.116+4G=
c.181+271G=
c.504+4G= (n.504+4G=)
c.237+271G= (n.237+271G=)
11g.74493196C>GCA2574923170LIPT2c.466+42G>C (n.466+42G>C)
c.116+4G>C
c.181+271G>C
c.504+4G>C (n.504+4G>C)
c.237+271G>C (n.237+271G>C)
 gnomAD v4
11g.74493196C>TCA2574923171LIPT2c.466+42G>A (n.466+42G>A)
c.116+4G>A
c.181+271G>A
c.504+4G>A (n.504+4G>A)
c.237+271G>A (n.237+271G>A)
 gnomAD v4
11g.74493197G>ACA939597102LIPT2c.466+41C>T (n.466+41C>T)
c.116+3C>T
c.181+270C>T
c.504+3C>T (n.504+3C>T)
c.237+270C>T (n.237+270C>T)
 dbSNP gnomAD v3 gnomAD v4
11g.74493197G>CCA2615095533LIPT2c.466+41C>G (n.466+41C>G)
c.116+3C>G
c.181+270C>G
c.504+3C>G (n.504+3C>G)
c.237+270C>G (n.237+270C>G)
 gnomAD v4
11g.74493197G=CA1982908642LIPT2c.466+41C= (n.466+41C=)
c.116+3C=
c.181+270C=
c.504+3C= (n.504+3C=)
c.237+270C= (n.237+270C=)
11g.74493197G>TCA2615095534LIPT2c.466+41C>A (n.466+41C>A)
c.116+3C>A
c.181+270C>A
c.504+3C>A (n.504+3C>A)
c.237+270C>A (n.237+270C>A)
 gnomAD v4
11g.74493198A=CA1982908643LIPT2c.466+40T= (n.466+40T=)
c.116+2T=
c.181+269T=
c.504+2T= (n.504+2T=)
c.237+269T= (n.237+269T=)
11g.74493198A>CCA2615095535LIPT2c.466+40T>G (n.466+40T>G)
c.116+2T>G
c.181+269T>G
c.504+2T>G (n.504+2T>G)
c.237+269T>G (n.237+269T>G)
 gnomAD v4
11g.74493198A>GCA680150457LIPT2c.466+40T>C (n.466+40T>C)
c.116+2T>C
c.181+269T>C
c.504+2T>C (n.504+2T>C)
c.237+269T>C (n.237+269T>C)
 dbSNP
11g.74493199C>ACA1982908645LIPT2c.466+39G>T (n.466+39G>T)
c.116+1G>T
c.181+268G>T
c.504+1G>T (n.504+1G>T)
c.237+268G>T (n.237+268G>T)
 dbSNP gnomAD v4
11g.74493199C=CA1982908644LIPT2c.466+39G= (n.466+39G=)
c.116+1G=
c.181+268G=
c.504+1G= (n.504+1G=)
c.237+268G= (n.237+268G=)
11g.74493199C>GCA2615095536LIPT2c.466+39G>C (n.466+39G>C)
c.116+1G>C
c.181+268G>C
c.504+1G>C (n.504+1G>C)
c.237+268G>C (n.237+268G>C)
 gnomAD v4
11g.74493199C>TCA1982908646LIPT2c.466+39G>A (n.466+39G>A)
c.116+1G>A
c.181+268G>A
c.504+1G>A (n.504+1G>A)
c.237+268G>A (n.237+268G>A)
 dbSNP gnomAD v4
11g.74493200C>ACA2615095538LIPT2c.466+38G>T (n.466+38G>T)
c.116G>T
c.181+267G>T
c.504G>T (p.Glu168Asp)
c.237+267G>T (n.237+267G>T)
 gnomAD v4
11g.74493200C>GCA2739376363LIPT2c.466+38G>C (n.466+38G>C)
c.116G>C
c.181+267G>C
c.504G>C (p.Glu168Asp)
c.237+267G>C (n.237+267G>C)
11g.74493200C>TCA2615095539LIPT2c.466+38G>A (n.466+38G>A)
c.116G>A
c.181+267G>A
c.504G>A (p.Glu168=)
c.237+267G>A (n.237+267G>A)
 gnomAD v4
11g.74493201_74493228delCA2615095537LIPT2c.466+11_466+38del (n.466+11_466+38del)
c.89_116del
c.181+240_181+267del
c.477_504del (p.Gly160SerfsTer24)
c.237+240_237+267del (n.237+240_237+267del)
 gnomAD v4
11g.74493201T>ACA2615095540LIPT2c.466+37A>T (n.466+37A>T)
c.115A>T
c.181+266A>T
c.503A>T (p.Glu168Val)
c.237+266A>T (n.237+266A>T)
 gnomAD v4
11g.74493201T>CCA2615095541LIPT2c.466+37A>G (n.466+37A>G)
c.115A>G
c.181+266A>G
c.503A>G (p.Glu168Gly)
c.237+266A>G (n.237+266A>G)
 gnomAD v4
11g.74493201T>GCA2615095542LIPT2c.466+37A>C (n.466+37A>C)
c.115A>C
c.181+266A>C
c.503A>C (p.Glu168Ala)
c.237+266A>C (n.237+266A>C)
 gnomAD v4
11g.74493202C>ACA2615095543LIPT2c.466+36G>T (n.466+36G>T)
c.114G>T
c.181+265G>T
c.502G>T (p.Glu168Ter)
c.237+265G>T (n.237+265G>T)
 gnomAD v4
11g.74493202C>TCA2574923172LIPT2c.466+36G>A (n.466+36G>A)
c.114G>A
c.181+265G>A
c.502G>A (p.Glu168Lys)
c.237+265G>A (n.237+265G>A)
 gnomAD v4
11g.74493203G>ACA2615095544LIPT2c.466+35C>T (n.466+35C>T)
c.113C>T
c.181+264C>T
c.501C>T (p.Ala167=)
c.237+264C>T (n.237+264C>T)
 gnomAD v4
11g.74493203G>CCA2615095545LIPT2c.466+35C>G (n.466+35C>G)
c.113C>G
c.181+264C>G
c.501C>G (p.Ala167=)
c.237+264C>G (n.237+264C>G)
 gnomAD v4
11g.74493203G=CA1982908647LIPT2c.466+35C= (n.466+35C=)
c.113C=
c.181+264C=
c.501C= (p.Ala167=)
c.237+264C= (n.237+264C=)
11g.74493203G>TCA1982908648LIPT2c.466+35C>A (n.466+35C>A)
c.113C>A
c.181+264C>A
c.501C>A (p.Ala167=)
c.237+264C>A (n.237+264C>A)
 dbSNP gnomAD v4
11g.74493204G>ACA680150461LIPT2c.466+34C>T (n.466+34C>T)
c.112C>T
c.181+263C>T
c.500C>T (p.Ala167Val)
c.237+263C>T (n.237+263C>T)
 dbSNP gnomAD v4
11g.74493204G>CCA2739376364LIPT2c.466+34C>G (n.466+34C>G)
c.112C>G
c.181+263C>G
c.500C>G (p.Ala167Gly)
c.237+263C>G (n.237+263C>G)
11g.74493204G=CA1982908649LIPT2c.466+34C= (n.466+34C=)
c.112C=
c.181+263C=
c.500C= (p.Ala167=)
c.237+263C= (n.237+263C=)
11g.74493204G>TCA2615095546LIPT2c.466+34C>A (n.466+34C>A)
c.112C>A
c.181+263C>A
c.500C>A (p.Ala167Asp)
c.237+263C>A (n.237+263C>A)
 gnomAD v4
11g.74493205C>ACA2615095548LIPT2c.466+33G>T (n.466+33G>T)
c.111G>T
c.181+262G>T
c.499G>T (p.Ala167Ser)
c.237+262G>T (n.237+262G>T)
 gnomAD v4
11g.74493205C>GCA2739376365LIPT2c.466+33G>C (n.466+33G>C)
c.111G>C
c.181+262G>C
c.499G>C (p.Ala167Pro)
c.237+262G>C (n.237+262G>C)
11g.74493205C>TCA2615095549LIPT2c.466+33G>A (n.466+33G>A)
c.111G>A
c.181+262G>A
c.499G>A (p.Ala167Thr)
c.237+262G>A (n.237+262G>A)
 gnomAD v4
11g.74493208_74493209delCA2615095547LIPT2c.466+32_466+33del (n.466+32_466+33del)
c.110_111del
c.181+261_181+262del
c.498_499del (p.Arg166SerfsTer?)
c.237+261_237+262del (n.237+261_237+262del)
 gnomAD v4
11g.74493206T>ACA2739376366LIPT2c.466+32A>T (n.466+32A>T)
c.110A>T
c.181+261A>T
c.498A>T (p.Arg166Ser)
c.237+261A>T (n.237+261A>T)
11g.74493206T>CCA2615095550LIPT2c.466+32A>G (n.466+32A>G)
c.110A>G
c.181+261A>G
c.498A>G (p.Arg166=)
c.237+261A>G (n.237+261A>G)
 gnomAD v4
11g.74493206T>GCA2615095551LIPT2c.466+32A>C (n.466+32A>C)
c.110A>C
c.181+261A>C
c.498A>C (p.Arg166Ser)
c.237+261A>C (n.237+261A>C)
 gnomAD v4
11g.74493207C>ACA2615095552LIPT2c.466+31G>T (n.466+31G>T)
c.109G>T
c.181+260G>T
c.497G>T (p.Arg166Ile)
c.237+260G>T (n.237+260G>T)
 gnomAD v4
11g.74493207C>GCA2739376367LIPT2c.466+31G>C (n.466+31G>C)
c.109G>C
c.181+260G>C
c.497G>C (p.Arg166Thr)
c.237+260G>C (n.237+260G>C)
11g.74493207C>TCA2574923173LIPT2c.466+31G>A (n.466+31G>A)
c.109G>A
c.181+260G>A
c.497G>A (p.Arg166Lys)
c.237+260G>A (n.237+260G>A)
11g.74493208T>ACA2615095553LIPT2c.466+30A>T (n.466+30A>T)
c.108A>T
c.181+259A>T
c.496A>T (p.Arg166Ter)
c.237+259A>T (n.237+259A>T)
 gnomAD v4
11g.74493208T>CCA2574923174LIPT2c.466+30A>G (n.466+30A>G)
c.108A>G
c.181+259A>G
c.496A>G (p.Arg166Gly)
c.237+259A>G (n.237+259A>G)
 gnomAD v4
11g.74493208_74493209delinsTCCA1982908650LIPT2c.466+29_466+30delinsGA (n.466+29_466+30delinsGA)
c.107_108delinsGA
c.181+258_181+259delinsGA
c.495_496delinsGA (p.Leu165=)
c.237+258_237+259delinsGA (n.237+258_237+259delinsGA)
11g.74493209delCA1982908651LIPT2c.466+29del (n.466+29del)
c.107del
c.181+258del
c.495del (p.Arg166GlufsTer27)
c.237+258del (n.237+258del)
 dbSNP
11g.74493209C>ACA2615095554LIPT2c.466+29G>T (n.466+29G>T)
c.107G>T
c.181+258G>T
c.495G>T (p.Leu165=)
c.237+258G>T (n.237+258G>T)
 gnomAD v4
11g.74493209C=CA1982908652LIPT2c.466+29G= (n.466+29G=)
c.107G=
c.181+258G=
c.495G= (p.Leu165=)
c.237+258G= (n.237+258G=)
11g.74493209C>GCA2615095555LIPT2c.466+29G>C (n.466+29G>C)
c.107G>C
c.181+258G>C
c.495G>C (p.Leu165=)
c.237+258G>C (n.237+258G>C)
 gnomAD v4
11g.74493209C>TCA600712344LIPT2c.466+29G>A (n.466+29G>A)
c.107G>A
c.181+258G>A
c.495G>A (p.Leu165=)
c.237+258G>A (n.237+258G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.74493210A=CA1982908653LIPT2c.466+28T= (n.466+28T=)
c.106T=
c.181+257T=
c.494T= (p.Leu165=)
c.237+257T= (n.237+257T=)
11g.74493210A>CCA224979265LIPT2c.466+28T>G (n.466+28T>G)
c.106T>G
c.181+257T>G
c.494T>G (p.Leu165Arg)
c.237+257T>G (n.237+257T>G)
 dbSNP gnomAD v3 gnomAD v4
11g.74493210A>GCA1982908654LIPT2c.466+28T>C (n.466+28T>C)
c.106T>C
c.181+257T>C
c.494T>C (p.Leu165Pro)
c.237+257T>C (n.237+257T>C)
 dbSNP gnomAD v4
11g.74493210A>TCA2615095556LIPT2c.466+28T>A (n.466+28T>A)
c.106T>A
c.181+257T>A
c.494T>A (p.Leu165Gln)
c.237+257T>A (n.237+257T>A)
 gnomAD v4
11g.74493211G>ACA680150464LIPT2c.466+27C>T (n.466+27C>T)
c.105C>T
c.181+256C>T
c.493C>T (p.Leu165=)
c.237+256C>T (n.237+256C>T)
 dbSNP gnomAD v3 gnomAD v4
11g.74493211G=CA1982908655LIPT2c.466+27C= (n.466+27C=)
c.105C=
c.181+256C=
c.493C= (p.Leu165=)
c.237+256C= (n.237+256C=)
11g.74493211G>TCA2615095557LIPT2c.466+27C>A (n.466+27C>A)
c.105C>A
c.181+256C>A
c.493C>A (p.Leu165Met)
c.237+256C>A (n.237+256C>A)
 gnomAD v4
11g.74493212G>ACA2574923175LIPT2c.466+26C>T (n.466+26C>T)
c.104C>T
c.181+255C>T
c.492C>T (p.Tyr164=)
c.237+255C>T (n.237+255C>T)
 gnomAD v4
11g.74493212G>CCA2739376368LIPT2c.466+26C>G (n.466+26C>G)
c.104C>G
c.181+255C>G
c.492C>G (p.Tyr164Ter)
c.237+255C>G (n.237+255C>G)
11g.74493212G>TCA2615095558LIPT2c.466+26C>A (n.466+26C>A)
c.104C>A
c.181+255C>A
c.492C>A (p.Tyr164Ter)
c.237+255C>A (n.237+255C>A)
 gnomAD v4
11g.74493213T>ACA2615095559LIPT2c.466+25A>T (n.466+25A>T)
c.103A>T
c.181+254A>T
c.491A>T (p.Tyr164Phe)
c.237+254A>T (n.237+254A>T)
 gnomAD v4
11g.74493213T>CCA2526630534LIPT2c.466+25A>G (n.466+25A>G)
c.103A>G
c.181+254A>G
c.491A>G (p.Tyr164Cys)
c.237+254A>G (n.237+254A>G)
 gnomAD v4
11g.74493213T>GCA2615095560LIPT2c.466+25A>C (n.466+25A>C)
c.103A>C
c.181+254A>C
c.491A>C (p.Tyr164Ser)
c.237+254A>C (n.237+254A>C)
 gnomAD v4
11g.74493214A=CA1982908656LIPT2c.466+24T= (n.466+24T=)
c.102T=
c.181+253T=
c.490T= (p.Tyr164=)
c.237+253T= (n.237+253T=)
11g.74493214A>CCA2574923176LIPT2c.466+24T>G (n.466+24T>G)
c.102T>G
c.181+253T>G
c.490T>G (p.Tyr164Asp)
c.237+253T>G (n.237+253T>G)
 gnomAD v4
11g.74493214A>GCA600712345LIPT2c.466+24T>C (n.466+24T>C)
c.102T>C
c.181+253T>C
c.490T>C (p.Tyr164His)
c.237+253T>C (n.237+253T>C)
 dbSNP gnomAD v2 gnomAD v4
11g.74493214A>TCA1982908657LIPT2c.466+24T>A (n.466+24T>A)
c.102T>A
c.181+253T>A
c.490T>A (p.Tyr164Asn)
c.237+253T>A (n.237+253T>A)
 dbSNP
11g.74493215C>ACA475888273LIPT2c.466+23G>T (n.466+23G>T)
c.101G>T
c.181+252G>T
c.489G>T (p.Arg163=)
c.237+252G>T (n.237+252G>T)
 gnomAD v4
11g.74493215C=CA1982908658LIPT2c.466+23G= (n.466+23G=)
c.101G=
c.181+252G=
c.489G= (p.Arg163=)
c.237+252G= (n.237+252G=)
11g.74493215C>GCA600712346LIPT2c.466+23G>C (n.466+23G>C)
c.101G>C
c.181+252G>C
c.489G>C (p.Arg163=)
c.237+252G>C (n.237+252G>C)
 dbSNP gnomAD v2 gnomAD v4
11g.74493215C>TCA2615095561LIPT2c.466+23G>A (n.466+23G>A)
c.101G>A
c.181+252G>A
c.489G>A (p.Arg163=)
c.237+252G>A (n.237+252G>A)
 gnomAD v4
11g.74493216C>ACA600712347LIPT2c.466+22G>T (n.466+22G>T)
c.100G>T
c.181+251G>T
c.488G>T (p.Arg163Leu)
c.237+251G>T (n.237+251G>T)
 dbSNP gnomAD v2 gnomAD v4
11g.74493216C=CA1982908659LIPT2c.466+22G= (n.466+22G=)
c.100G=
c.181+251G=
c.488G= (p.Arg163=)
c.237+251G= (n.237+251G=)
11g.74493216C>GCA2739376369LIPT2c.466+22G>C (n.466+22G>C)
c.100G>C
c.181+251G>C
c.488G>C (p.Arg163Pro)
c.237+251G>C (n.237+251G>C)
11g.74493216C>TCA600712348LIPT2c.466+22G>A (n.466+22G>A)
c.100G>A
c.181+251G>A
c.488G>A (p.Arg163Gln)
c.237+251G>A (n.237+251G>A)
 dbSNP gnomAD v2 gnomAD v4
11g.74493217G>ACA224979266LIPT2c.466+21C>T (n.466+21C>T)
c.99C>T
c.181+250C>T
c.487C>T (p.Arg163Trp)
c.237+250C>T (n.237+250C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.74493217G>CCA2615095562LIPT2c.466+21C>G (n.466+21C>G)
c.99C>G
c.181+250C>G
c.487C>G (p.Arg163Gly)
c.237+250C>G (n.237+250C>G)
 gnomAD v4
11g.74493217G=CA1982908660LIPT2c.466+21C= (n.466+21C=)
c.99C=
c.181+250C=
c.487C= (p.Arg163=)
c.237+250C= (n.237+250C=)
11g.74493217G>TCA600712349LIPT2c.466+21C>A (n.466+21C>A)
c.99C>A
c.181+250C>A
c.487C>A (p.Arg163=)
c.237+250C>A (n.237+250C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.74493218C>ACA2615095563LIPT2c.466+20G>T (n.466+20G>T)
c.98G>T
c.181+249G>T
c.486G>T (p.Gly162=)
c.237+249G>T (n.237+249G>T)
 gnomAD v4
11g.74493218C=CA1982908661LIPT2c.466+20G= (n.466+20G=)
c.98G=
c.181+249G=
c.486G= (p.Gly162=)
c.237+249G= (n.237+249G=)
11g.74493218C>GCA2739376370LIPT2c.466+20G>C (n.466+20G>C)
c.98G>C
c.181+249G>C
c.486G>C (p.Gly162=)
c.237+249G>C (n.237+249G>C)
11g.74493218C>TCA600712350LIPT2c.466+20G>A (n.466+20G>A)
c.98G>A
c.181+249G>A
c.486G>A (p.Gly162=)
c.237+249G>A (n.237+249G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.74493220delCA2615095564LIPT2c.466+20del (n.466+20del)
c.98del
c.181+249del
c.486del (p.Arg163GlyfsTer3)
c.237+249del (n.237+249del)
 gnomAD v4
11g.74493219C>ACA600712351LIPT2c.466+19G>T (n.466+19G>T)
c.97G>T
c.181+248G>T
c.485G>T (p.Gly162Val)
c.237+248G>T (n.237+248G>T)
 dbSNP gnomAD v2 gnomAD v4
11g.74493219C=CA1982908662LIPT2c.466+19G= (n.466+19G=)
c.97G=
c.181+248G=
c.485G= (p.Gly162=)
c.237+248G= (n.237+248G=)
11g.74493219C>GCA680150477LIPT2c.466+19G>C (n.466+19G>C)
c.97G>C
c.181+248G>C
c.485G>C (p.Gly162Ala)
c.237+248G>C (n.237+248G>C)
 dbSNP
11g.74493219C>TCA2615095565LIPT2c.466+19G>A (n.466+19G>A)
c.97G>A
c.181+248G>A
c.485G>A (p.Gly162Glu)
c.237+248G>A (n.237+248G>A)
 gnomAD v4
11g.74493220C>ACA2615095566LIPT2c.466+18G>T (n.466+18G>T)
c.96G>T
c.181+247G>T
c.484G>T (p.Gly162Trp)
c.237+247G>T (n.237+247G>T)
 gnomAD v4
11g.74493220C>GCA2615095567LIPT2c.466+18G>C (n.466+18G>C)
c.96G>C
c.181+247G>C
c.484G>C (p.Gly162Arg)
c.237+247G>C (n.237+247G>C)
 gnomAD v4
11g.74493220C>TCA2615095568LIPT2c.466+18G>A (n.466+18G>A)
c.96G>A
c.181+247G>A
c.484G>A (p.Gly162Arg)
c.237+247G>A (n.237+247G>A)
 gnomAD v4
11g.74493221delCA2615095569LIPT2c.466+17del (n.466+17del)
c.95del
c.181+246del
c.483del (p.Arg163GlyfsTer3)
c.237+246del (n.237+246del)
 gnomAD v4
11g.74493221T>ACA2615095571LIPT2c.466+17A>T (n.466+17A>T)
c.95A>T
c.181+246A>T
c.483A>T (p.Ala161=)
c.237+246A>T (n.237+246A>T)
 gnomAD v4
11g.74493221T>CCA6184916LIPT2c.466+17A>G (n.466+17A>G)
c.95A>G
c.181+246A>G
c.483A>G (p.Ala161=)
c.237+246A>G (n.237+246A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.74493221T>GCA2615095570LIPT2c.466+17A>C (n.466+17A>C)
c.95A>C
c.181+246A>C
c.483A>C (p.Ala161=)
c.237+246A>C (n.237+246A>C)
 gnomAD v4
11g.74493221T=CA1982908663LIPT2c.466+17A= (n.466+17A=)
c.95A=
c.181+246A=
c.483A= (p.Ala161=)
c.237+246A= (n.237+246A=)
11g.74493222G>ACA2615095573LIPT2c.466+16C>T (n.466+16C>T)
c.94C>T
c.181+245C>T
c.482C>T (p.Ala161Val)
c.237+245C>T (n.237+245C>T)
 gnomAD v4
11g.74493222G>CCA2739376371LIPT2c.466+16C>G (n.466+16C>G)
c.94C>G
c.181+245C>G
c.482C>G (p.Ala161Gly)
c.237+245C>G (n.237+245C>G)
11g.74493222G>TCA2615095572LIPT2c.466+16C>A (n.466+16C>A)
c.94C>A
c.181+245C>A
c.482C>A (p.Ala161Glu)
c.237+245C>A (n.237+245C>A)
 gnomAD v4
11g.74493223C>ACA600712352LIPT2c.466+15G>T (n.466+15G>T)
c.93G>T
c.181+244G>T
c.481G>T (p.Ala161Ser)
c.237+244G>T (n.237+244G>T)
 dbSNP gnomAD v2 gnomAD v4
11g.74493223C=CA1982908664LIPT2c.466+15G= (n.466+15G=)
c.93G=
c.181+244G=
c.481G= (p.Ala161=)
c.237+244G= (n.237+244G=)
11g.74493223C>GCA2739376372LIPT2c.466+15G>C (n.466+15G>C)
c.93G>C
c.181+244G>C
c.481G>C (p.Ala161Pro)
c.237+244G>C (n.237+244G>C)
11g.74493223C>TCA600712353LIPT2c.466+15G>A (n.466+15G>A)
c.93G>A
c.181+244G>A
c.481G>A (p.Ala161Thr)
c.237+244G>A (n.237+244G>A)
 dbSNP gnomAD v2 gnomAD v4
11g.74493224T>ACA939597109LIPT2c.466+14A>T (n.466+14A>T)
c.92A>T
c.181+243A>T
c.480A>T (p.Gly160=)
c.237+243A>T (n.237+243A>T)
 dbSNP gnomAD v3 gnomAD v4
11g.74493224T>CCA2581037094LIPT2c.466+14A>G (n.466+14A>G)
c.92A>G
c.181+243A>G
c.480A>G (p.Gly160=)
c.237+243A>G (n.237+243A>G)
 gnomAD v4
11g.74493224T>GCA6184917LIPT2c.466+14A>C (n.466+14A>C)
c.92A>C
c.181+243A>C
c.480A>C (p.Gly160=)
c.237+243A>C (n.237+243A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.74493224T=CA1982908665LIPT2c.466+14A= (n.466+14A=)
c.92A=
c.181+243A=
c.480A= (p.Gly160=)
c.237+243A= (n.237+243A=)
11g.74493225C>ACA600712354LIPT2c.466+13G>T (n.466+13G>T)
c.91G>T
c.181+242G>T
c.479G>T (p.Gly160Val)
c.237+242G>T (n.237+242G>T)
 dbSNP gnomAD v2 gnomAD v4
11g.74493225C=CA1982908666LIPT2c.466+13G= (n.466+13G=)
c.91G=
c.181+242G=
c.479G= (p.Gly160=)
c.237+242G= (n.237+242G=)
11g.74493225C>GCA2739376373LIPT2c.466+13G>C (n.466+13G>C)
c.91G>C
c.181+242G>C
c.479G>C (p.Gly160Ala)
c.237+242G>C (n.237+242G>C)
11g.74493225C>TCA2615095574LIPT2c.466+13G>A (n.466+13G>A)
c.91G>A
c.181+242G>A
c.479G>A (p.Gly160Glu)
c.237+242G>A (n.237+242G>A)
 gnomAD v4
11g.74493226C>ACA2615095575LIPT2c.466+12G>T (n.466+12G>T)
c.90G>T
c.181+241G>T
c.478G>T (p.Gly160Ter)
c.237+241G>T (n.237+241G>T)
 gnomAD v4
11g.74493226C=CA1982908667LIPT2c.466+12G= (n.466+12G=)
c.90G=
c.181+241G=
c.478G= (p.Gly160=)
c.237+241G= (n.237+241G=)
11g.74493226C>GCA600712355LIPT2c.466+12G>C (n.466+12G>C)
c.90G>C
c.181+241G>C
c.478G>C (p.Gly160Arg)
c.237+241G>C (n.237+241G>C)
 dbSNP gnomAD v2 gnomAD v4
11g.74493226C>TCA2615095576LIPT2c.466+12G>A (n.466+12G>A)
c.90G>A
c.181+241G>A
c.478G>A (p.Gly160Arg)
c.237+241G>A (n.237+241G>A)
 gnomAD v4
11g.74493227G>ACA600712356LIPT2c.466+11C>T (n.466+11C>T)
c.89C>T
c.181+240C>T
c.477C>T (p.Arg159=)
c.237+240C>T (n.237+240C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.74493227G>CCA2615095577LIPT2c.466+11C>G (n.466+11C>G)
c.89C>G
c.181+240C>G
c.477C>G (p.Arg159=)
c.237+240C>G (n.237+240C>G)
 gnomAD v4
11g.74493227G=CA1982908668LIPT2c.466+11C= (n.466+11C=)
c.89C=
c.181+240C=
c.477C= (p.Arg159=)
c.237+240C= (n.237+240C=)
11g.74493227G>TCA600712357LIPT2c.466+11C>A (n.466+11C>A)
c.89C>A
c.181+240C>A
c.477C>A (p.Arg159=)
c.237+240C>A (n.237+240C>A)
 dbSNP gnomAD v2 gnomAD v4
11g.74493228C>ACA2615095578LIPT2c.466+10G>T (n.466+10G>T)
c.88G>T
c.181+239G>T
c.476G>T (p.Arg159Leu)
c.237+239G>T (n.237+239G>T)
 gnomAD v4
11g.74493228C>GCA2574923177LIPT2c.466+10G>C (n.466+10G>C)
c.88G>C
c.181+239G>C
c.476G>C (p.Arg159Pro)
c.237+239G>C (n.237+239G>C)
 gnomAD v4
11g.74493228C>TCA2615095579LIPT2c.466+10G>A (n.466+10G>A)
c.88G>A
c.181+239G>A
c.476G>A (p.Arg159His)
c.237+239G>A (n.237+239G>A)
 gnomAD v4
11g.74493229G>ACA1982908670LIPT2c.466+9C>T (n.466+9C>T)
c.87C>T
c.181+238C>T
c.475C>T (p.Arg159Cys)
c.237+238C>T (n.237+238C>T)
 dbSNP gnomAD v4
11g.74493229G>CCA2615095580LIPT2c.466+9C>G (n.466+9C>G)
c.87C>G
c.181+238C>G
c.475C>G (p.Arg159Gly)
c.237+238C>G (n.237+238C>G)
 gnomAD v4
11g.74493229G=CA1982908669LIPT2c.466+9C= (n.466+9C=)
c.87C=
c.181+238C=
c.475C= (p.Arg159=)
c.237+238C= (n.237+238C=)
11g.74493229G>TCA600712358LIPT2c.466+9C>A (n.466+9C>A)
c.87C>A
c.181+238C>A
c.475C>A (p.Arg159Ser)
c.237+238C>A (n.237+238C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.74493230G>ACA600712359LIPT2c.466+8C>T (n.466+8C>T)
c.86C>T
c.181+237C>T
c.474C>T (p.Arg158=)
c.237+237C>T (n.237+237C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.74493230G>CCA2739376374LIPT2c.466+8C>G (n.466+8C>G)
c.86C>G
c.181+237C>G
c.474C>G (p.Arg158=)
c.237+237C>G (n.237+237C>G)
11g.74493230G=CA1982908671LIPT2c.466+8C= (n.466+8C=)
c.86C=
c.181+237C=
c.474C= (p.Arg158=)
c.237+237C= (n.237+237C=)
11g.74493230G>TCA2615095582LIPT2c.466+8C>A (n.466+8C>A)
c.86C>A
c.181+237C>A
c.474C>A (p.Arg158=)
c.237+237C>A (n.237+237C>A)
 gnomAD v4
11g.74493234_74493246delCA2615095581LIPT2c.462_466+8del
c.74_86del
c.181+225_181+237del
c.462_474del (p.Ile155AlafsTer7)
c.237+225_237+237del (n.237+225_237+237del)
 gnomAD v4
11g.74493231C>ACA600712360LIPT2c.466+7G>T (n.466+7G>T)
c.85G>T
c.181+236G>T
c.473G>T (p.Arg158Leu)
c.237+236G>T (n.237+236G>T)
 dbSNP gnomAD v2 gnomAD v4
11g.74493231C=CA1982908672LIPT2c.466+7G= (n.466+7G=)
c.85G=
c.181+236G=
c.473G= (p.Arg158=)
c.237+236G= (n.237+236G=)
11g.74493231C>GCA2574923178LIPT2c.466+7G>C (n.466+7G>C)
c.85G>C
c.181+236G>C
c.473G>C (p.Arg158Pro)
c.237+236G>C (n.237+236G>C)
 gnomAD v4
11g.74493231C>TCA600712361LIPT2c.466+7G>A (n.466+7G>A)
c.85G>A
c.181+236G>A
c.473G>A (p.Arg158His)
c.237+236G>A (n.237+236G>A)
 dbSNP gnomAD v2 gnomAD v4
11g.74493232G>ACA600712362LIPT2c.466+6C>T (n.466+6C>T)
c.84C>T
c.181+235C>T
c.472C>T (p.Arg158Cys)
c.237+235C>T (n.237+235C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.74493232G>CCA2739376375LIPT2c.466+6C>G (n.466+6C>G)
c.84C>G
c.181+235C>G
c.472C>G (p.Arg158Gly)
c.237+235C>G (n.237+235C>G)
11g.74493232G=CA1982908673LIPT2c.466+6C= (n.466+6C=)
c.84C=
c.181+235C=
c.472C= (p.Arg158=)
c.237+235C= (n.237+235C=)
11g.74493232G>TCA600712363LIPT2c.466+6C>A (n.466+6C>A)
c.84C>A
c.181+235C>A
c.472C>A (p.Arg158Ser)
c.237+235C>A (n.237+235C>A)
 dbSNP gnomAD v2 gnomAD v4
11g.74493233C>ACA2615095583LIPT2c.466+5G>T (n.466+5G>T)
c.83G>T
c.181+234G>T
c.471G>T (p.Glu157Asp)
c.237+234G>T (n.237+234G>T)
 gnomAD v4
11g.74493233C=CA1982908674LIPT2c.466+5G= (n.466+5G=)
c.83G=
c.181+234G=
c.471G= (p.Glu157=)
c.237+234G= (n.237+234G=)
11g.74493233C>GCA2739376376LIPT2c.466+5G>C (n.466+5G>C)
c.83G>C
c.181+234G>C
c.471G>C (p.Glu157Asp)
c.237+234G>C (n.237+234G>C)
11g.74493233C>TCA939597110LIPT2c.466+5G>A (n.466+5G>A)
c.83G>A
c.181+234G>A
c.471G>A (p.Glu157=)
c.237+234G>A (n.237+234G>A)
 dbSNP gnomAD v3 gnomAD v4
11g.74493234T>ACA2739280751LIPT2c.466+4A>T (n.466+4A>T)
c.82A>T
c.181+233A>T
c.470A>T (p.Glu157Val)
c.237+233A>T (n.237+233A>T)
11g.74493234T>CCA2615095584LIPT2c.466+4A>G (n.466+4A>G)
c.82A>G
c.181+233A>G
c.470A>G (p.Glu157Gly)
c.237+233A>G (n.237+233A>G)
 dbSNP gnomAD v4
11g.74493234T>GCA2739376377LIPT2c.466+4A>C (n.466+4A>C)
c.82A>C
c.181+233A>C
c.470A>C (p.Glu157Ala)
c.237+233A>C (n.237+233A>C)
11g.74493235C>ACA2615095585LIPT2c.466+3G>T (n.466+3G>T)
c.81G>T
c.181+232G>T
c.469G>T (p.Glu157Ter)
c.237+232G>T (n.237+232G>T)
 gnomAD v4
11g.74493235C>GCA2615095586LIPT2c.466+3G>C (n.466+3G>C)
c.81G>C
c.181+232G>C
c.469G>C (p.Glu157Gln)
c.237+232G>C (n.237+232G>C)
 gnomAD v4
11g.74493235C>TCA2538565861LIPT2c.466+3G>A (n.466+3G>A)
c.81G>A
c.181+232G>A
c.469G>A (p.Glu157Lys)
c.237+232G>A (n.237+232G>A)
 gnomAD v4
11g.74493236A>CCA381976326LIPT2c.466+2T>G (n.466+2T>G)
c.80T>G
c.181+231T>G
c.468T>G (p.Gly156=)
c.237+231T>G (n.237+231T>G)
 gnomAD v4
11g.74493236A>GCA381976327LIPT2c.466+2T>C (n.466+2T>C)
c.80T>C
c.181+231T>C
c.468T>C (p.Gly156=)
c.237+231T>C (n.237+231T>C)
 gnomAD v4
11g.74493236A>TCA381976328LIPT2c.466+2T>A (n.466+2T>A)
c.80T>A
c.181+231T>A
c.468T>A (p.Gly156=)
c.237+231T>A (n.237+231T>A)
11g.74493237C>ACA381976329LIPT2c.466+1G>T (n.466+1G>T)
c.79G>T
c.181+230G>T
c.467G>T (p.Gly156Val)
c.237+230G>T (n.237+230G>T)
 gnomAD v4
11g.74493237C>GCA381976330LIPT2c.466+1G>C (n.466+1G>C)
c.79G>C
c.181+230G>C
c.467G>C (p.Gly156Ala)
c.237+230G>C (n.237+230G>C)
11g.74493237C>TCA381976331LIPT2c.466+1G>A (n.466+1G>A)
c.79G>A
c.181+230G>A
c.467G>A (p.Gly156Asp)
c.237+230G>A (n.237+230G>A)
 gnomAD v4
11g.74493238C>ACA381976332LIPT2c.466G>T (p.Gly156Ter)
c.78G>T
c.181+229G>T
c.466G>T (p.Gly156Cys)
c.237+229G>T (n.237+229G>T)
 dbSNP gnomAD v4
11g.74493238C=CA1982908675LIPT2c.466G= (p.Gly156=)
c.78G=
c.181+229G=
c.237+229G= (n.237+229G=)
11g.74493238C>GCA381976333LIPT2c.466G>C (p.Gly156Arg)
c.78G>C
c.181+229G>C
c.237+229G>C (n.237+229G>C)
 ClinVar dbSNP gnomAD v4
11g.74493238C>TCA381976334LIPT2c.466G>A (p.Gly156Arg)
c.78G>A
c.181+229G>A
c.466G>A (p.Gly156Ser)
c.237+229G>A (n.237+229G>A)
 gnomAD v4
11g.74493239G>ACA475888275LIPT2c.465C>T (p.Ile155=)
c.77C>T
c.181+228C>T
c.237+228C>T (n.237+228C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.74493239G>CCA381976335LIPT2c.465C>G (p.Ile155Met)
c.77C>G
c.181+228C>G
c.237+228C>G (n.237+228C>G)
 gnomAD v4
11g.74493239G=CA1982908676LIPT2c.465C= (p.Ile155=)
c.77C=
c.181+228C=
c.237+228C= (n.237+228C=)
11g.74493239G>TCA475888274LIPT2c.465C>A (p.Ile155=)
c.77C>A
c.181+228C>A
c.237+228C>A (n.237+228C>A)
 dbSNP gnomAD v4 COSMIC
11g.74493240A>CCA381976337LIPT2c.464T>G (p.Ile155Ser)
c.76T>G
c.181+227T>G
c.237+227T>G (n.237+227T>G)
11g.74493240A>GCA381976338LIPT2c.464T>C (p.Ile155Thr)
c.76T>C
c.181+227T>C
c.237+227T>C (n.237+227T>C)
 gnomAD v4
11g.74493240A>TCA381976336LIPT2c.464T>A (p.Ile155Asn)
c.76T>A
c.181+227T>A
c.237+227T>A (n.237+227T>A)
11g.74493240_74493241delinsATCA1982908677LIPT2c.463_464delinsAT (p.Ile155=)
c.75_76delinsAT
c.181+226_181+227delinsAT
c.237+226_237+227delinsAT (n.237+226_237+227delinsAT)
11g.74493241delCA680150522LIPT2c.463del (p.Ile155SerfsTer?)
c.75del
c.181+226del
c.463del (p.Ile155SerfsTer11)
c.237+226del (n.237+226del)
 dbSNP gnomAD v4
11g.74493241T>ACA381976339LIPT2c.463A>T (p.Ile155Phe)
c.75A>T
c.181+226A>T
c.237+226A>T (n.237+226A>T)
11g.74493241T>CCA381976340LIPT2c.463A>G (p.Ile155Val)
c.75A>G
c.181+226A>G
c.237+226A>G (n.237+226A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.74493241T>GCA381976341LIPT2c.463A>C (p.Ile155Leu)
c.75A>C
c.181+226A>C
c.237+226A>C (n.237+226A>C)
11g.74493241T=CA1982908678LIPT2c.463A= (p.Ile155=)
c.75A=
c.181+226A=
c.237+226A= (n.237+226A=)
11g.74493242C>ACA475888276LIPT2c.462G>T (p.Ala154=)
c.74G>T
c.181+225G>T
c.237+225G>T (n.237+225G>T)
 gnomAD v4
11g.74493242C=CA1982908679LIPT2c.462G= (p.Ala154=)
c.74G=
c.181+225G=
c.237+225G= (n.237+225G=)
11g.74493242C>GCA475888277LIPT2c.462G>C (p.Ala154=)
c.74G>C
c.181+225G>C
c.237+225G>C (n.237+225G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.74493242C>TCA475888278LIPT2c.462G>A (p.Ala154=)
c.74G>A
c.181+225G>A
c.237+225G>A (n.237+225G>A)
 gnomAD v4
11g.74493243G>ACA381976342LIPT2c.461C>T (p.Ala154Val)
c.73C>T
c.181+224C>T
c.237+224C>T (n.237+224C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.74493243G>CCA381976343LIPT2c.461C>G (p.Ala154Gly)
c.73C>G
c.181+224C>G
c.237+224C>G (n.237+224C>G)
 gnomAD v4
11g.74493243G=CA1982908680LIPT2c.461C= (p.Ala154=)
c.73C=
c.181+224C=
c.237+224C= (n.237+224C=)
11g.74493243G>TCA381976344LIPT2c.461C>A (p.Ala154Glu)
c.73C>A
c.181+224C>A
c.237+224C>A (n.237+224C>A)
 gnomAD v4
11g.74493244delCA2615095587LIPT2c.460del (p.Ala154ArgfsTer?)
c.72del
c.181+223del
c.460del (p.Ala154ArgfsTer12)
c.237+223del (n.237+223del)
 gnomAD v4
11g.74493244C>ACA381976347LIPT2c.460G>T (p.Ala154Ser)
c.72G>T
c.181+223G>T
c.237+223G>T (n.237+223G>T)
 gnomAD v4
11g.74493244C=CA1982908681LIPT2c.460G= (p.Ala154=)
c.72G=
c.181+223G=
c.237+223G= (n.237+223G=)
11g.74493244C>GCA381976345LIPT2c.460G>C (p.Ala154Pro)
c.72G>C
c.181+223G>C
c.237+223G>C (n.237+223G>C)
11g.74493244C>TCA381976346LIPT2c.460G>A (p.Ala154Thr)
c.72G>A
c.181+223G>A
c.237+223G>A (n.237+223G>A)
 dbSNP gnomAD v4
11g.74493245G>ACA475888279LIPT2c.459C>T (p.Cys153=)
c.71C>T
c.181+222C>T
c.237+222C>T (n.237+222C>T)
 gnomAD v4
11g.74493245G>CCA381976348LIPT2c.459C>G (p.Cys153Trp)
c.71C>G
c.181+222C>G
c.237+222C>G (n.237+222C>G)
11g.74493245G>TCA381976349LIPT2c.459C>A (p.Cys153Ter)
c.71C>A
c.181+222C>A
c.237+222C>A (n.237+222C>A)
 gnomAD v4
11g.74493246C>ACA381976350LIPT2c.458G>T (p.Cys153Phe)
c.70G>T
c.181+221G>T
c.237+221G>T (n.237+221G>T)
 gnomAD v4
11g.74493246C>GCA381976351LIPT2c.458G>C (p.Cys153Ser)
c.70G>C
c.181+221G>C
c.237+221G>C (n.237+221G>C)
11g.74493246C>TCA381976352LIPT2c.458G>A (p.Cys153Tyr)
c.70G>A
c.181+221G>A
c.237+221G>A (n.237+221G>A)
11g.74493247A=CA1982908682LIPT2c.457T= (p.Cys153=)
c.69T=
c.181+220T=
c.237+220T= (n.237+220T=)
11g.74493247A>CCA381976353LIPT2c.457T>G (p.Cys153Gly)
c.69T>G
c.181+220T>G
c.237+220T>G (n.237+220T>G)
 dbSNP gnomAD v4
11g.74493247A>GCA381976355LIPT2c.457T>C (p.Cys153Arg)
c.69T>C
c.181+220T>C
c.237+220T>C (n.237+220T>C)
 gnomAD v4
11g.74493247A>TCA381976354LIPT2c.457T>A (p.Cys153Ser)
c.69T>A
c.181+220T>A
c.237+220T>A (n.237+220T>A)
11g.74493248G>ACA475888280LIPT2c.456C>T (p.Ile152=)
c.68C>T
c.181+219C>T
c.237+219C>T (n.237+219C>T)
 dbSNP
11g.74493248G>CCA381976356LIPT2c.456C>G (p.Ile152Met)
c.68C>G
c.181+219C>G
c.237+219C>G (n.237+219C>G)
 gnomAD v4
11g.74493248G=CA1982908683LIPT2c.456C= (p.Ile152=)
c.68C=
c.181+219C=
c.237+219C= (n.237+219C=)
11g.74493248G>TCA224979267LIPT2c.456C>A (p.Ile152=)
c.68C>A
c.181+219C>A
c.237+219C>A (n.237+219C>A)
 dbSNP gnomAD v4
11g.74493249A>CCA381976357LIPT2c.455T>G (p.Ile152Ser)
c.67T>G
c.181+218T>G
c.237+218T>G (n.237+218T>G)
11g.74493249A>GCA381976358LIPT2c.455T>C (p.Ile152Thr)
c.67T>C
c.181+218T>C
c.237+218T>C (n.237+218T>C)
 gnomAD v4
11g.74493249A>TCA381976359LIPT2c.455T>A (p.Ile152Asn)
c.67T>A
c.181+218T>A
c.237+218T>A (n.237+218T>A)
11g.74493250T>ACA381976360LIPT2c.454A>T (p.Ile152Phe)
c.66A>T
c.181+217A>T
c.237+217A>T (n.237+217A>T)
11g.74493250T>CCA381976361LIPT2c.454A>G (p.Ile152Val)
c.66A>G
c.181+217A>G
c.237+217A>G (n.237+217A>G)
 gnomAD v4
11g.74493250T>GCA381976362LIPT2c.454A>C (p.Ile152Leu)
c.66A>C
c.181+217A>C
c.237+217A>C (n.237+217A>C)
11g.74493251delCA2574923179LIPT2c.453del (p.Ile152SerfsTer?)
c.65del
c.181+216del
c.453del (p.Ile152SerfsTer14)
c.237+216del (n.237+216del)
11g.74493251C>ACA381976363LIPT2c.453G>T (p.Lys151Asn)
c.65G>T
c.181+216G>T
c.237+216G>T (n.237+216G>T)
 gnomAD v4
11g.74493251C=CA1982908684LIPT2c.453G= (p.Lys151=)
c.65G=
c.181+216G=
c.237+216G= (n.237+216G=)
11g.74493251C>GCA381976364LIPT2c.453G>C (p.Lys151Asn)
c.65G>C
c.181+216G>C
c.237+216G>C (n.237+216G>C)
 gnomAD v4
11g.74493251C>TCA475888281LIPT2c.453G>A (p.Lys151=)
c.65G>A
c.181+216G>A
c.237+216G>A (n.237+216G>A)
 dbSNP gnomAD v4
11g.74493252T>ACA381976365LIPT2c.452A>T (p.Lys151Met)
c.64A>T
c.181+215A>T
c.237+215A>T (n.237+215A>T)
11g.74493252T>CCA381976366LIPT2c.452A>G (p.Lys151Arg)
c.64A>G
c.181+215A>G
c.237+215A>G (n.237+215A>G)
 gnomAD v4
11g.74493252T>GCA381976367LIPT2c.452A>C (p.Lys151Thr)
c.64A>C
c.181+215A>C
c.237+215A>C (n.237+215A>C)
11g.74493253T>ACA381976368LIPT2c.451A>T (p.Lys151Ter)
c.63A>T
c.181+214A>T
c.237+214A>T (n.237+214A>T)
 gnomAD v4
11g.74493253T>CCA381976370LIPT2c.451A>G (p.Lys151Glu)
c.63A>G
c.181+214A>G
c.237+214A>G (n.237+214A>G)
 gnomAD v4
11g.74493253T>GCA381976369LIPT2c.451A>C (p.Lys151Gln)
c.63A>C
c.181+214A>C
c.237+214A>C (n.237+214A>C)
11g.74493253T=CA1982908685LIPT2c.451A= (p.Lys151=)
c.63A=
c.181+214A=
c.237+214A= (n.237+214A=)
11g.74493254G>ACA475888282LIPT2c.450C>T (p.Arg150=)
c.62C>T
c.181+213C>T
c.237+213C>T (n.237+213C>T)
 gnomAD v4
11g.74493254G>CCA475888283LIPT2c.450C>G (p.Arg150=)
c.62C>G
c.181+213C>G
c.237+213C>G (n.237+213C>G)
 dbSNP gnomAD v2 gnomAD v4
11g.74493254G=CA1982908686LIPT2c.450C= (p.Arg150=)
c.62C=
c.181+213C=
c.237+213C= (n.237+213C=)
11g.74493254G>TCA475888284LIPT2c.450C>A (p.Arg150=)
c.62C>A
c.181+213C>A
c.237+213C>A (n.237+213C>A)
 gnomAD v4
11g.74493254dupCA224979268LIPT2c.450dup (p.Lys151GlnfsTer30)
c.62dup
c.181+213dup
c.450dup (p.Lys151GlnfsTer7)
c.237+213dup (n.237+213dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.74493255C>ACA381976371LIPT2c.449G>T (p.Arg150Leu)
c.61G>T
c.181+212G>T
c.237+212G>T (n.237+212G>T)
 gnomAD v4
11g.74493255C=CA1982908687LIPT2c.449G= (p.Arg150=)
c.61G=
c.181+212G=
c.237+212G= (n.237+212G=)
11g.74493255C>GCA381976372LIPT2c.449G>C (p.Arg150Pro)
c.61G>C
c.181+212G>C
c.237+212G>C (n.237+212G>C)
 dbSNP gnomAD v4
11g.74493255C>TCA381976373LIPT2c.449G>A (p.Arg150His)
c.61G>A
c.181+212G>A
c.237+212G>A (n.237+212G>A)
 gnomAD v4
11g.74493256G>ACA381976374LIPT2c.448C>T (p.Arg150Cys)
c.60C>T
c.181+211C>T
c.237+211C>T (n.237+211C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.74493256G>CCA381976375LIPT2c.448C>G (p.Arg150Gly)
c.60C>G
c.181+211C>G
c.237+211C>G (n.237+211C>G)
11g.74493256G=CA1982908688LIPT2c.448C= (p.Arg150=)
c.60C=
c.181+211C=
c.237+211C= (n.237+211C=)
11g.74493256G>TCA381976376LIPT2c.448C>A (p.Arg150Ser)
c.60C>A
c.181+211C>A
c.237+211C>A (n.237+211C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.74493257A=CA1982908689LIPT2c.447T= (p.Asp149=)
c.59T=
c.181+210T=
c.237+210T= (n.237+210T=)
11g.74493257A>CCA381976378LIPT2c.447T>G (p.Asp149Glu)
c.59T>G
c.181+210T>G
c.237+210T>G (n.237+210T>G)
 gnomAD v4
11g.74493257A>GCA475888285LIPT2c.447T>C (p.Asp149=)
c.59T>C
c.181+210T>C
c.237+210T>C (n.237+210T>C)
 dbSNP gnomAD v4
11g.74493257A>TCA381976377LIPT2c.447T>A (p.Asp149Glu)
c.59T>A
c.181+210T>A
c.237+210T>A (n.237+210T>A)
11g.74493258T>ACA381976379LIPT2c.446A>T (p.Asp149Val)
c.58A>T
c.181+209A>T
c.237+209A>T (n.237+209A>T)
 gnomAD v4
11g.74493258T>CCA381976380LIPT2c.446A>G (p.Asp149Gly)
c.58A>G
c.181+209A>G
c.237+209A>G (n.237+209A>G)
 dbSNP gnomAD v4
11g.74493258T>GCA381976381LIPT2c.446A>C (p.Asp149Ala)
c.58A>C
c.181+209A>C
c.237+209A>C (n.237+209A>C)
11g.74493258T=CA1982908690LIPT2c.446A= (p.Asp149=)
c.58A=
c.181+209A=
c.237+209A= (n.237+209A=)
11g.74493259C>ACA381976382LIPT2c.445G>T (p.Asp149Tyr)
c.57G>T
c.181+208G>T
c.237+208G>T (n.237+208G>T)
 gnomAD v4
11g.74493259C=CA1982908691LIPT2c.445G= (p.Asp149=)
c.57G=
c.181+208G=
c.237+208G= (n.237+208G=)
11g.74493259C>GCA381976383LIPT2c.445G>C (p.Asp149His)
c.57G>C
c.181+208G>C
c.237+208G>C (n.237+208G>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.74493259C>TCA381976384LIPT2c.445G>A (p.Asp149Asn)
c.57G>A
c.181+208G>A
c.237+208G>A (n.237+208G>A)
 dbSNP gnomAD v4
11g.74493260G>ACA224979269LIPT2c.444C>T (p.Asp148=)
c.56C>T
c.181+207C>T
c.237+207C>T (n.237+207C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.74493260G>CCA381976386LIPT2c.444C>G (p.Asp148Glu)
c.56C>G
c.181+207C>G
c.237+207C>G (n.237+207C>G)
 gnomAD v4 COSMIC
11g.74493260G=CA1982908692LIPT2c.444C= (p.Asp148=)
c.56C=
c.181+207C=
c.237+207C= (n.237+207C=)
11g.74493260G>TCA381976385LIPT2c.444C>A (p.Asp148Glu)
c.56C>A
c.181+207C>A
c.237+207C>A (n.237+207C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.74493261T>ACA381976387LIPT2c.443A>T (p.Asp148Val)
c.55A>T
c.181+206A>T
c.237+206A>T (n.237+206A>T)
11g.74493261T>CCA381976388LIPT2c.443A>G (p.Asp148Gly)
c.55A>G
c.181+206A>G
c.237+206A>G (n.237+206A>G)
 gnomAD v4
11g.74493261T>GCA381976389LIPT2c.443A>C (p.Asp148Ala)
c.55A>C
c.181+206A>C
c.237+206A>C (n.237+206A>C)
11g.74493262C>ACA381976390LIPT2c.442G>T (p.Asp148Tyr)
c.54G>T
c.181+205G>T
c.237+205G>T (n.237+205G>T)
 dbSNP gnomAD v2 gnomAD v4
11g.74493262C=CA1982908693LIPT2c.442G= (p.Asp148=)
c.54G=
c.181+205G=
c.237+205G= (n.237+205G=)
11g.74493262C>GCA381976391LIPT2c.442G>C (p.Asp148His)
c.54G>C
c.181+205G>C
c.237+205G>C (n.237+205G>C)
11g.74493262C>TCA381976392LIPT2c.442G>A (p.Asp148Asn)
c.54G>A
c.181+205G>A
c.237+205G>A (n.237+205G>A)
 dbSNP
11g.74493263T>ACA475888286LIPT2c.441A>T (p.Leu147=)
c.53A>T
c.181+204A>T
c.237+204A>T (n.237+204A>T)
11g.74493263T>CCA475888287LIPT2c.441A>G (p.Leu147=)
c.53A>G
c.181+204A>G
c.237+204A>G (n.237+204A>G)
 gnomAD v4
11g.74493263T>GCA475888288LIPT2c.441A>C (p.Leu147=)
c.53A>C
c.181+204A>C
c.237+204A>C (n.237+204A>C)
11g.74493264A>CCA381976393LIPT2c.440T>G (p.Leu147Arg)
c.52T>G
c.181+203T>G
c.237+203T>G (n.237+203T>G)
 gnomAD v4
11g.74493264A>GCA381976394LIPT2c.440T>C (p.Leu147Pro)
c.52T>C
c.181+203T>C
c.237+203T>C (n.237+203T>C)
 gnomAD v4
11g.74493264A>TCA381976395LIPT2c.440T>A (p.Leu147Gln)
c.52T>A
c.181+203T>A
c.237+203T>A (n.237+203T>A)
11g.74493265G>ACA475888289LIPT2c.439C>T (p.Leu147=)
c.51C>T
c.181+202C>T
c.237+202C>T (n.237+202C>T)
 gnomAD v4
11g.74493265G>CCA381976396LIPT2c.439C>G (p.Leu147Val)
c.51C>G
c.181+202C>G
c.237+202C>G (n.237+202C>G)
 gnomAD v4
11g.74493265G>TCA381976397LIPT2c.439C>A (p.Leu147Ile)
c.51C>A
c.181+202C>A
c.237+202C>A (n.237+202C>A)
 gnomAD v4
11g.74493266C>ACA381976399LIPT2c.438G>T (p.Trp146Cys)
c.50G>T
c.181+201G>T
c.237+201G>T (n.237+201G>T)
 gnomAD v4
11g.74493266C=CA1982908694LIPT2c.438G= (p.Trp146=)
c.50G=
c.181+201G=
c.237+201G= (n.237+201G=)
11g.74493266C>GCA224979270LIPT2c.438G>C (p.Trp146Cys)
c.50G>C
c.181+201G>C
c.237+201G>C (n.237+201G>C)
 dbSNP
11g.74493266C>TCA381976398LIPT2c.438G>A (p.Trp146Ter)
c.50G>A
c.181+201G>A
c.237+201G>A (n.237+201G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.74493267C>ACA381976402LIPT2c.437G>T (p.Trp146Leu)
c.49G>T
c.181+200G>T
c.237+200G>T (n.237+200G>T)
 gnomAD v4
11g.74493267C>GCA381976400LIPT2c.437G>C (p.Trp146Ser)
c.49G>C
c.181+200G>C
c.237+200G>C (n.237+200G>C)
11g.74493267C>TCA381976401LIPT2c.437G>A (p.Trp146Ter)
c.49G>A
c.181+200G>A
c.237+200G>A (n.237+200G>A)
 gnomAD v4
11g.74493268A=CA1982908695LIPT2c.436T= (p.Trp146=)
c.48T=
c.181+199T=
c.237+199T= (n.237+199T=)
11g.74493268A>CCA381976403LIPT2c.436T>G (p.Trp146Gly)
c.48T>G
c.181+199T>G
c.237+199T>G (n.237+199T>G)
11g.74493268A>GCA381976404LIPT2c.436T>C (p.Trp146Arg)
c.48T>C
c.181+199T>C
c.237+199T>C (n.237+199T>C)
 dbSNP gnomAD v3 gnomAD v4
11g.74493268A>TCA381976405LIPT2c.436T>A (p.Trp146Arg)
c.48T>A
c.181+199T>A
c.237+199T>A (n.237+199T>A)
11g.74493269G>ACA475888290LIPT2c.435C>T (p.Val145=)
c.47C>T
c.181+198C>T
c.237+198C>T (n.237+198C>T)
 gnomAD v4
11g.74493269G>CCA224979271LIPT2c.435C>G (p.Val145=)
c.47C>G
c.181+198C>G
c.237+198C>G (n.237+198C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.74493269G=CA1982908696LIPT2c.435C= (p.Val145=)
c.47C=
c.181+198C=
c.237+198C= (n.237+198C=)
11g.74493269G>TCA475888291LIPT2c.435C>A (p.Val145=)
c.47C>A
c.181+198C>A
c.237+198C>A (n.237+198C>A)
 gnomAD v4
11g.74493270A=CA1982908697LIPT2c.434T= (p.Val145=)
c.46T=
c.181+197T=
c.237+197T= (n.237+197T=)
11g.74493270A>CCA381976407LIPT2c.434T>G (p.Val145Gly)
c.46T>G
c.181+197T>G
c.237+197T>G (n.237+197T>G)
11g.74493270A>GCA224979272LIPT2c.434T>C (p.Val145Ala)
c.46T>C
c.181+197T>C
c.237+197T>C (n.237+197T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.74493270A>TCA381976406LIPT2c.434T>A (p.Val145Asp)
c.46T>A
c.181+197T>A
c.237+197T>A (n.237+197T>A)

Number of alleles fetched