Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.17395832G>TCA218408131ABCC8c.4198+20C>A (p.=)
c.4201+20C>A (p.=)
c.2698+20C>A (p.=)
n.4264+20C>A
c.4264+20C>A (p.=)
c.4195+20C>A (p.=)
n.4493+20C>A
c.4267+20C>A (p.=)
c.2764+20C>A (p.=)
c.2155+20C>A (p.=)
c.2566+20C>A (p.=)
n.4339+20C>A
n.4270+20C>A
n.5940C>A
n.84C>A
n.66+20C>A
n.34+20C>A
dbSNP
11g.17395834G>ACA5902539ABCC8c.4198+18C>T (p.=)
c.4201+18C>T (p.=)
c.2698+18C>T (p.=)
n.4264+18C>T
c.4264+18C>T (p.=)
c.4195+18C>T (p.=)
n.4493+18C>T
c.4267+18C>T (p.=)
c.2764+18C>T (p.=)
c.2155+18C>T (p.=)
c.2566+18C>T (p.=)
n.4339+18C>T
n.4270+18C>T
n.5938C>T
n.82C>T
n.66+18C>T
n.34+18C>T
ClinVar dbSNP ExAC gnomAD
11g.17395837C>TCA5902540ABCC8c.4198+15G>A (p.=)
c.4201+15G>A (p.=)
c.2698+15G>A (p.=)
n.4264+15G>A
c.4264+15G>A (p.=)
c.4195+15G>A (p.=)
n.4493+15G>A
c.4267+15G>A (p.=)
c.2764+15G>A (p.=)
c.2155+15G>A (p.=)
c.2566+15G>A (p.=)
n.4339+15G>A
n.4270+15G>A
n.5935G>A
n.79G>A
n.66+15G>A
n.34+15G>A
dbSNP ExAC gnomAD
11g.17395838G>ACA5902541ABCC8c.4198+14C>T (p.=)
c.4201+14C>T (p.=)
c.2698+14C>T (p.=)
n.4264+14C>T
c.4264+14C>T (p.=)
c.4195+14C>T (p.=)
n.4493+14C>T
c.4267+14C>T (p.=)
c.2764+14C>T (p.=)
c.2155+14C>T (p.=)
c.2566+14C>T (p.=)
n.4339+14C>T
n.4270+14C>T
n.5934C>T
n.78C>T
n.66+14C>T
n.34+14C>T
dbSNP ExAC gnomAD
11g.17395838G>TCA597904428ABCC8c.4198+14C>A (p.=)
c.4201+14C>A (p.=)
c.2698+14C>A (p.=)
n.4264+14C>A
c.4264+14C>A (p.=)
c.4195+14C>A (p.=)
n.4493+14C>A
c.4267+14C>A (p.=)
c.2764+14C>A (p.=)
c.2155+14C>A (p.=)
c.2566+14C>A (p.=)
n.4339+14C>A
n.4270+14C>A
n.5934C>A
n.78C>A
n.66+14C>A
n.34+14C>A
gnomAD
11g.17395840C>TCA935525150ABCC8c.4198+12G>A (p.=)
c.4201+12G>A (p.=)
c.2698+12G>A (p.=)
n.4264+12G>A
c.4264+12G>A (p.=)
c.4195+12G>A (p.=)
n.4493+12G>A
c.4267+12G>A (p.=)
c.2764+12G>A (p.=)
c.2155+12G>A (p.=)
c.2566+12G>A (p.=)
n.4339+12G>A
n.4270+12G>A
n.5932G>A
n.76G>A
n.66+12G>A
n.34+12G>A
11g.17395845_17395847dupCA674175792ABCC8c.4198+7_4198+9dup (p.=)
c.4201+7_4201+9dup (p.=)
c.2698+7_2698+9dup (p.=)
n.4264+7_4264+9dup
c.4264+7_4264+9dup (p.=)
c.4195+7_4195+9dup (p.=)
n.4493+7_4493+9dup
c.4267+7_4267+9dup (p.=)
c.2764+7_2764+9dup (p.=)
c.2155+7_2155+9dup (p.=)
c.2566+7_2566+9dup (p.=)
n.4339+7_4339+9dup
n.4270+7_4270+9dup
n.5927_5929dup
n.71_73dup
n.66+7_66+9dup
n.34+7_34+9dup
dbSNP
11g.17395847C>TCA597904429ABCC8c.4198+5G>A (p.=)
c.4201+5G>A (p.=)
c.2698+5G>A (p.=)
n.4264+5G>A
c.4264+5G>A (p.=)
c.4195+5G>A (p.=)
n.4493+5G>A
c.4267+5G>A (p.=)
c.2764+5G>A (p.=)
c.2155+5G>A (p.=)
c.2566+5G>A (p.=)
n.4339+5G>A
n.4270+5G>A
n.5925G>A
n.69G>A
n.66+5G>A
n.34+5G>A
gnomAD
11g.17395850A>CCA379787632ABCC8c.4198+2T>G (p.=)
c.4201+2T>G (p.=)
c.2698+2T>G (p.=)
n.4264+2T>G
c.4264+2T>G (p.=)
c.4195+2T>G (p.=)
n.4493+2T>G
c.4267+2T>G (p.=)
c.2764+2T>G (p.=)
c.2155+2T>G (p.=)
c.2566+2T>G (p.=)
n.4339+2T>G
n.4270+2T>G
n.5922T>G
n.66T>G
n.66+2T>G
n.34+2T>G
11g.17395850A>GCA379787635ABCC8c.4198+2T>C (p.=)
c.4201+2T>C (p.=)
c.2698+2T>C (p.=)
n.4264+2T>C
c.4264+2T>C (p.=)
c.4195+2T>C (p.=)
n.4493+2T>C
c.4267+2T>C (p.=)
c.2764+2T>C (p.=)
c.2155+2T>C (p.=)
c.2566+2T>C (p.=)
n.4339+2T>C
n.4270+2T>C
n.5922T>C
n.66T>C
n.66+2T>C
n.34+2T>C
11g.17395850A>TCA379787639ABCC8c.4198+2T>A (p.=)
c.4201+2T>A (p.=)
c.2698+2T>A (p.=)
n.4264+2T>A
c.4264+2T>A (p.=)
c.4195+2T>A (p.=)
n.4493+2T>A
c.4267+2T>A (p.=)
c.2764+2T>A (p.=)
c.2155+2T>A (p.=)
c.2566+2T>A (p.=)
n.4339+2T>A
n.4270+2T>A
n.5922T>A
n.66T>A
n.66+2T>A
n.34+2T>A
11g.17395851C>ACA379787653ABCC8c.4198+1G>T (p.=)
c.4201+1G>T (p.=)
c.2698+1G>T (p.=)
n.4264+1G>T
c.4264+1G>T (p.=)
c.4195+1G>T (p.=)
n.4493+1G>T
c.4267+1G>T (p.=)
c.2764+1G>T (p.=)
c.2155+1G>T (p.=)
c.2566+1G>T (p.=)
n.4339+1G>T
n.4270+1G>T
n.5921G>T
n.65G>T
n.66+1G>T
n.34+1G>T
11g.17395851C>GCA379787646ABCC8c.4198+1G>C (p.=)
c.4201+1G>C (p.=)
c.2698+1G>C (p.=)
n.4264+1G>C
c.4264+1G>C (p.=)
c.4195+1G>C (p.=)
n.4493+1G>C
c.4267+1G>C (p.=)
c.2764+1G>C (p.=)
c.2155+1G>C (p.=)
c.2566+1G>C (p.=)
n.4339+1G>C
n.4270+1G>C
n.5921G>C
n.65G>C
n.66+1G>C
n.34+1G>C
11g.17395851C>TCA379787649ABCC8c.4198+1G>A (p.=)
c.4201+1G>A (p.=)
c.2698+1G>A (p.=)
n.4264+1G>A
c.4264+1G>A (p.=)
c.4195+1G>A (p.=)
n.4493+1G>A
c.4267+1G>A (p.=)
c.2764+1G>A (p.=)
c.2155+1G>A (p.=)
c.2566+1G>A (p.=)
n.4339+1G>A
n.4270+1G>A
n.5921G>A
n.65G>A
n.66+1G>A
n.34+1G>A
COSMIC
11g.17395852C>ACA218408148ABCC8c.4198G>T (p.Gly1400Trp)
c.4201G>T (p.Gly1401Trp)
c.2698G>T (p.Gly900Trp)
n.4264G>T
c.4264G>T (p.Gly1422Trp)
c.4195G>T (p.Gly1399Trp)
n.4493G>T
c.4267G>T (p.Gly1423Trp)
c.2764G>T (p.Gly922Trp)
c.2155G>T (p.Gly719Trp)
c.2566G>T (p.Gly856Trp)
n.4339G>T
n.4270G>T
n.5920G>T
n.64G>T
n.66G>T
n.34G>T
dbSNP
11g.17395852C>GCA379787674ABCC8c.4198G>C (p.Gly1400Arg)
c.4201G>C (p.Gly1401Arg)
c.2698G>C (p.Gly900Arg)
n.4264G>C
c.4264G>C (p.Gly1422Arg)
c.4195G>C (p.Gly1399Arg)
n.4493G>C
c.4267G>C (p.Gly1423Arg)
c.2764G>C (p.Gly922Arg)
c.2155G>C (p.Gly719Arg)
c.2566G>C (p.Gly856Arg)
n.4339G>C
n.4270G>C
n.5920G>C
n.64G>C
n.66G>C
n.34G>C
11g.17395852C>TCA260102ABCC8c.4198G>A (p.Gly1400Arg)
c.4201G>A (p.Gly1401Arg)
c.2698G>A (p.Gly900Arg)
n.4264G>A
c.4264G>A (p.Gly1422Arg)
c.4195G>A (p.Gly1399Arg)
n.4493G>A
c.4267G>A (p.Gly1423Arg)
c.2764G>A (p.Gly922Arg)
c.2155G>A (p.Gly719Arg)
c.2566G>A (p.Gly856Arg)
n.4339G>A
n.4270G>A
n.5920G>A
n.64G>A
n.66G>A
n.34G>A
ClinVar dbSNP ExAC gnomAD
11g.17395853T>ACA379787684ABCC8c.4197A>T (p.Glu1399Asp)
c.4200A>T (p.Glu1400Asp)
c.2697A>T (p.Glu899Asp)
n.4263A>T
c.4263A>T (p.Glu1421Asp)
c.4194A>T (p.Glu1398Asp)
n.4492A>T
c.4266A>T (p.Glu1422Asp)
c.2763A>T (p.Glu921Asp)
c.2154A>T (p.Glu718Asp)
c.2565A>T (p.Glu855Asp)
n.4338A>T
n.4269A>T
n.5919A>T
n.63A>T
n.65A>T
n.33A>T
11g.17395853T>CCA473298277ABCC8c.4197A>G (p.Glu1399=)
c.4200A>G (p.Glu1400=)
c.2697A>G (p.Glu899=)
n.4263A>G
c.4263A>G (p.Glu1421=)
c.4194A>G (p.Glu1398=)
n.4492A>G
c.4266A>G (p.Glu1422=)
c.2763A>G (p.Glu921=)
c.2154A>G (p.Glu718=)
c.2565A>G (p.Glu855=)
n.4338A>G
n.4269A>G
n.5919A>G
n.63A>G
n.65A>G
n.33A>G
11g.17395853T>GCA379787698ABCC8c.4197A>C (p.Glu1399Asp)
c.4200A>C (p.Glu1400Asp)
c.2697A>C (p.Glu899Asp)
n.4263A>C
c.4263A>C (p.Glu1421Asp)
c.4194A>C (p.Glu1398Asp)
n.4492A>C
c.4266A>C (p.Glu1422Asp)
c.2763A>C (p.Glu921Asp)
c.2154A>C (p.Glu718Asp)
c.2565A>C (p.Glu855Asp)
n.4338A>C
n.4269A>C
n.5919A>C
n.63A>C
n.65A>C
n.33A>C
11g.17395854T>ACA379787707ABCC8c.4196A>T (p.Glu1399Val)
c.4199A>T (p.Glu1400Val)
c.2696A>T (p.Glu899Val)
n.4262A>T
c.4262A>T (p.Glu1421Val)
c.4193A>T (p.Glu1398Val)
n.4491A>T
c.4265A>T (p.Glu1422Val)
c.2762A>T (p.Glu921Val)
c.2153A>T (p.Glu718Val)
c.2564A>T (p.Glu855Val)
n.4337A>T
n.4268A>T
n.5918A>T
n.62A>T
n.64A>T
n.32A>T
11g.17395854T>CCA379787714ABCC8c.4196A>G (p.Glu1399Gly)
c.4199A>G (p.Glu1400Gly)
c.2696A>G (p.Glu899Gly)
n.4262A>G
c.4262A>G (p.Glu1421Gly)
c.4193A>G (p.Glu1398Gly)
n.4491A>G
c.4265A>G (p.Glu1422Gly)
c.2762A>G (p.Glu921Gly)
c.2153A>G (p.Glu718Gly)
c.2564A>G (p.Glu855Gly)
n.4337A>G
n.4268A>G
n.5918A>G
n.62A>G
n.64A>G
n.32A>G
11g.17395854T>GCA379787717ABCC8c.4196A>C (p.Glu1399Ala)
c.4199A>C (p.Glu1400Ala)
c.2696A>C (p.Glu899Ala)
n.4262A>C
c.4262A>C (p.Glu1421Ala)
c.4193A>C (p.Glu1398Ala)
n.4491A>C
c.4265A>C (p.Glu1422Ala)
c.2762A>C (p.Glu921Ala)
c.2153A>C (p.Glu718Ala)
c.2564A>C (p.Glu855Ala)
n.4337A>C
n.4268A>C
n.5918A>C
n.62A>C
n.64A>C
n.32A>C
11g.17395855C>ACA379787724ABCC8c.4195G>T (p.Glu1399Ter)
c.4198G>T (p.Glu1400Ter)
c.2695G>T (p.Glu899Ter)
n.4261G>T
c.4261G>T (p.Glu1421Ter)
c.4192G>T (p.Glu1398Ter)
n.4490G>T
c.4264G>T (p.Glu1422Ter)
c.2761G>T (p.Glu921Ter)
c.2152G>T (p.Glu718Ter)
c.2563G>T (p.Glu855Ter)
n.4336G>T
n.4267G>T
n.5917G>T
n.61G>T
n.63G>T
n.31G>T
11g.17395855C>GCA379787729ABCC8c.4195G>C (p.Glu1399Gln)
c.4198G>C (p.Glu1400Gln)
c.2695G>C (p.Glu899Gln)
n.4261G>C
c.4261G>C (p.Glu1421Gln)
c.4192G>C (p.Glu1398Gln)
n.4490G>C
c.4264G>C (p.Glu1422Gln)
c.2761G>C (p.Glu921Gln)
c.2152G>C (p.Glu718Gln)
c.2563G>C (p.Glu855Gln)
n.4336G>C
n.4267G>C
n.5917G>C
n.61G>C
n.63G>C
n.31G>C
11g.17395855C>TCA5902542ABCC8c.4195G>A (p.Glu1399Lys)
c.4198G>A (p.Glu1400Lys)
c.2695G>A (p.Glu899Lys)
n.4261G>A
c.4261G>A (p.Glu1421Lys)
c.4192G>A (p.Glu1398Lys)
n.4490G>A
c.4264G>A (p.Glu1422Lys)
c.2761G>A (p.Glu921Lys)
c.2152G>A (p.Glu718Lys)
c.2563G>A (p.Glu855Lys)
n.4336G>A
n.4267G>A
n.5917G>A
n.61G>A
n.63G>A
n.31G>A
dbSNP ExAC gnomAD COSMIC
11g.17395856G>ACA5902543ABCC8c.4194C>T (p.Phe1398=)
c.4197C>T (p.Phe1399=)
c.2694C>T (p.Phe898=)
n.4260C>T
c.4260C>T (p.Phe1420=)
c.4191C>T (p.Phe1397=)
n.4489C>T
c.4263C>T (p.Phe1421=)
c.2760C>T (p.Phe920=)
c.2151C>T (p.Phe717=)
c.2562C>T (p.Phe854=)
n.4335C>T
n.4266C>T
n.5916C>T
n.60C>T
n.62C>T
n.30C>T
ClinVar dbSNP ExAC gnomAD
11g.17395856G>CCA379787735ABCC8c.4194C>G (p.Phe1398Leu)
c.4197C>G (p.Phe1399Leu)
c.2694C>G (p.Phe898Leu)
n.4260C>G
c.4260C>G (p.Phe1420Leu)
c.4191C>G (p.Phe1397Leu)
n.4489C>G
c.4263C>G (p.Phe1421Leu)
c.2760C>G (p.Phe920Leu)
c.2151C>G (p.Phe717Leu)
c.2562C>G (p.Phe854Leu)
n.4335C>G
n.4266C>G
n.5916C>G
n.60C>G
n.62C>G
n.30C>G
11g.17395856G>TCA379787734ABCC8c.4194C>A (p.Phe1398Leu)
c.4197C>A (p.Phe1399Leu)
c.2694C>A (p.Phe898Leu)
n.4260C>A
c.4260C>A (p.Phe1420Leu)
c.4191C>A (p.Phe1397Leu)
n.4489C>A
c.4263C>A (p.Phe1421Leu)
c.2760C>A (p.Phe920Leu)
c.2151C>A (p.Phe717Leu)
c.2562C>A (p.Phe854Leu)
n.4335C>A
n.4266C>A
n.5916C>A
n.60C>A
n.62C>A
n.30C>A
11g.17395857A>CCA379787743ABCC8c.4193T>G (p.Phe1398Cys)
c.4196T>G (p.Phe1399Cys)
c.2693T>G (p.Phe898Cys)
n.4259T>G
c.4259T>G (p.Phe1420Cys)
c.4190T>G (p.Phe1397Cys)
n.4488T>G
c.4262T>G (p.Phe1421Cys)
c.2759T>G (p.Phe920Cys)
c.2150T>G (p.Phe717Cys)
c.2561T>G (p.Phe854Cys)
n.4334T>G
n.4265T>G
n.5915T>G
n.59T>G
n.61T>G
n.29T>G
11g.17395857A>GCA379787746ABCC8c.4193T>C (p.Phe1398Ser)
c.4196T>C (p.Phe1399Ser)
c.2693T>C (p.Phe898Ser)
n.4259T>C
c.4259T>C (p.Phe1420Ser)
c.4190T>C (p.Phe1397Ser)
n.4488T>C
c.4262T>C (p.Phe1421Ser)
c.2759T>C (p.Phe920Ser)
c.2150T>C (p.Phe717Ser)
c.2561T>C (p.Phe854Ser)
n.4334T>C
n.4265T>C
n.5915T>C
n.59T>C
n.61T>C
n.29T>C
11g.17395857A>TCA379787747ABCC8c.4193T>A (p.Phe1398Tyr)
c.4196T>A (p.Phe1399Tyr)
c.2693T>A (p.Phe898Tyr)
n.4259T>A
c.4259T>A (p.Phe1420Tyr)
c.4190T>A (p.Phe1397Tyr)
n.4488T>A
c.4262T>A (p.Phe1421Tyr)
c.2759T>A (p.Phe920Tyr)
c.2150T>A (p.Phe717Tyr)
c.2561T>A (p.Phe854Tyr)
n.4334T>A
n.4265T>A
n.5915T>A
n.59T>A
n.61T>A
n.29T>A
11g.17395858A>CCA379787748ABCC8c.4192T>G (p.Phe1398Val)
c.4195T>G (p.Phe1399Val)
c.2692T>G (p.Phe898Val)
n.4258T>G
c.4258T>G (p.Phe1420Val)
c.4189T>G (p.Phe1397Val)
n.4487T>G
c.4261T>G (p.Phe1421Val)
c.2758T>G (p.Phe920Val)
c.2149T>G (p.Phe717Val)
c.2560T>G (p.Phe854Val)
n.4333T>G
n.4264T>G
n.5914T>G
n.58T>G
n.60T>G
n.28T>G
11g.17395858A>GCA379787749ABCC8c.4192T>C (p.Phe1398Leu)
c.4195T>C (p.Phe1399Leu)
c.2692T>C (p.Phe898Leu)
n.4258T>C
c.4258T>C (p.Phe1420Leu)
c.4189T>C (p.Phe1397Leu)
n.4487T>C
c.4261T>C (p.Phe1421Leu)
c.2758T>C (p.Phe920Leu)
c.2149T>C (p.Phe717Leu)
c.2560T>C (p.Phe854Leu)
n.4333T>C
n.4264T>C
n.5914T>C
n.58T>C
n.60T>C
n.28T>C
11g.17395858A>TCA379787751ABCC8c.4192T>A (p.Phe1398Ile)
c.4195T>A (p.Phe1399Ile)
c.2692T>A (p.Phe898Ile)
n.4258T>A
c.4258T>A (p.Phe1420Ile)
c.4189T>A (p.Phe1397Ile)
n.4487T>A
c.4261T>A (p.Phe1421Ile)
c.2758T>A (p.Phe920Ile)
c.2149T>A (p.Phe717Ile)
c.2560T>A (p.Phe854Ile)
n.4333T>A
n.4264T>A
n.5914T>A
n.58T>A
n.60T>A
n.28T>A
11g.17395859C>ACA473298278ABCC8c.4191G>T (p.Thr1397=)
c.4194G>T (p.Thr1398=)
c.2691G>T (p.Thr897=)
n.4257G>T
c.4257G>T (p.Thr1419=)
c.4188G>T (p.Thr1396=)
n.4486G>T
c.4260G>T (p.Thr1420=)
c.2757G>T (p.Thr919=)
c.2148G>T (p.Thr716=)
c.2559G>T (p.Thr853=)
n.4332G>T
n.4263G>T
n.5913G>T
n.57G>T
n.59G>T
n.27G>T
11g.17395859C>GCA473298279ABCC8c.4191G>C (p.Thr1397=)
c.4194G>C (p.Thr1398=)
c.2691G>C (p.Thr897=)
n.4257G>C
c.4257G>C (p.Thr1419=)
c.4188G>C (p.Thr1396=)
n.4486G>C
c.4260G>C (p.Thr1420=)
c.2757G>C (p.Thr919=)
c.2148G>C (p.Thr716=)
c.2559G>C (p.Thr853=)
n.4332G>C
n.4263G>C
n.5913G>C
n.57G>C
n.59G>C
n.27G>C
11g.17395859C>TCA5902544ABCC8c.4191G>A (p.Thr1397=)
c.4194G>A (p.Thr1398=)
c.2691G>A (p.Thr897=)
n.4257G>A
c.4257G>A (p.Thr1419=)
c.4188G>A (p.Thr1396=)
n.4486G>A
c.4260G>A (p.Thr1420=)
c.2757G>A (p.Thr919=)
c.2148G>A (p.Thr716=)
c.2559G>A (p.Thr853=)
n.4332G>A
n.4263G>A
n.5913G>A
n.57G>A
n.59G>A
n.27G>A
dbSNP ExAC gnomAD
11g.17395860G>ACA218408157ABCC8c.4190C>T (p.Thr1397Met)
c.4193C>T (p.Thr1398Met)
c.2690C>T (p.Thr897Met)
n.4256C>T
c.4256C>T (p.Thr1419Met)
c.4187C>T (p.Thr1396Met)
n.4485C>T
c.4259C>T (p.Thr1420Met)
c.2756C>T (p.Thr919Met)
c.2147C>T (p.Thr716Met)
c.2558C>T (p.Thr853Met)
n.4331C>T
n.4262C>T
n.5912C>T
n.56C>T
n.58C>T
n.26C>T
dbSNP gnomAD
11g.17395860G>CCA5902545ABCC8c.4190C>G (p.Thr1397Arg)
c.4193C>G (p.Thr1398Arg)
c.2690C>G (p.Thr897Arg)
n.4256C>G
c.4256C>G (p.Thr1419Arg)
c.4187C>G (p.Thr1396Arg)
n.4485C>G
c.4259C>G (p.Thr1420Arg)
c.2756C>G (p.Thr919Arg)
c.2147C>G (p.Thr716Arg)
c.2558C>G (p.Thr853Arg)
n.4331C>G
n.4262C>G
n.5912C>G
n.56C>G
n.58C>G
n.26C>G
dbSNP ExAC gnomAD
11g.17395860G>TCA379787772ABCC8c.4190C>A (p.Thr1397Lys)
c.4193C>A (p.Thr1398Lys)
c.2690C>A (p.Thr897Lys)
n.4256C>A
c.4256C>A (p.Thr1419Lys)
c.4187C>A (p.Thr1396Lys)
n.4485C>A
c.4259C>A (p.Thr1420Lys)
c.2756C>A (p.Thr919Lys)
c.2147C>A (p.Thr716Lys)
c.2558C>A (p.Thr853Lys)
n.4331C>A
n.4262C>A
n.5912C>A
n.56C>A
n.58C>A
n.26C>A
gnomAD
11g.17395861T>ACA379787776ABCC8c.4189A>T (p.Thr1397Ser)
c.4192A>T (p.Thr1398Ser)
c.2689A>T (p.Thr897Ser)
n.4255A>T
c.4255A>T (p.Thr1419Ser)
c.4186A>T (p.Thr1396Ser)
n.4484A>T
c.4258A>T (p.Thr1420Ser)
c.2755A>T (p.Thr919Ser)
c.2146A>T (p.Thr716Ser)
c.2557A>T (p.Thr853Ser)
n.4330A>T
n.4261A>T
n.5911A>T
n.55A>T
n.57A>T
n.25A>T
11g.17395861T>CCA379787778ABCC8c.4189A>G (p.Thr1397Ala)
c.4192A>G (p.Thr1398Ala)
c.2689A>G (p.Thr897Ala)
n.4255A>G
c.4255A>G (p.Thr1419Ala)
c.4186A>G (p.Thr1396Ala)
n.4484A>G
c.4258A>G (p.Thr1420Ala)
c.2755A>G (p.Thr919Ala)
c.2146A>G (p.Thr716Ala)
c.2557A>G (p.Thr853Ala)
n.4330A>G
n.4261A>G
n.5911A>G
n.55A>G
n.57A>G
n.25A>G
11g.17395861T>GCA379787779ABCC8c.4189A>C (p.Thr1397Pro)
c.4192A>C (p.Thr1398Pro)
c.2689A>C (p.Thr897Pro)
n.4255A>C
c.4255A>C (p.Thr1419Pro)
c.4186A>C (p.Thr1396Pro)
n.4484A>C
c.4258A>C (p.Thr1420Pro)
c.2755A>C (p.Thr919Pro)
c.2146A>C (p.Thr716Pro)
c.2557A>C (p.Thr853Pro)
n.4330A>C
n.4261A>C
n.5911A>C
n.55A>C
n.57A>C
n.25A>C
11g.17395862G>ACA473298280ABCC8c.4188C>T (p.Asp1396=)
c.4191C>T (p.Asp1397=)
c.2688C>T (p.Asp896=)
n.4254C>T
c.4254C>T (p.Asp1418=)
c.4185C>T (p.Asp1395=)
n.4483C>T
c.4257C>T (p.Asp1419=)
c.2754C>T (p.Asp918=)
c.2145C>T (p.Asp715=)
c.2556C>T (p.Asp852=)
n.4329C>T
n.4260C>T
n.5910C>T
n.54C>T
n.56C>T
n.24C>T
gnomAD
11g.17395862G>CCA379787791ABCC8c.4188C>G (p.Asp1396Glu)
c.4191C>G (p.Asp1397Glu)
c.2688C>G (p.Asp896Glu)
n.4254C>G
c.4254C>G (p.Asp1418Glu)
c.4185C>G (p.Asp1395Glu)
n.4483C>G
c.4257C>G (p.Asp1419Glu)
c.2754C>G (p.Asp918Glu)
c.2145C>G (p.Asp715Glu)
c.2556C>G (p.Asp852Glu)
n.4329C>G
n.4260C>G
n.5910C>G
n.54C>G
n.56C>G
n.24C>G
11g.17395862G>TCA379787783ABCC8c.4188C>A (p.Asp1396Glu)
c.4191C>A (p.Asp1397Glu)
c.2688C>A (p.Asp896Glu)
n.4254C>A
c.4254C>A (p.Asp1418Glu)
c.4185C>A (p.Asp1395Glu)
n.4483C>A
c.4257C>A (p.Asp1419Glu)
c.2754C>A (p.Asp918Glu)
c.2145C>A (p.Asp715Glu)
c.2556C>A (p.Asp852Glu)
n.4329C>A
n.4260C>A
n.5910C>A
n.54C>A
n.56C>A
n.24C>A
11g.17395863T>ACA379787795ABCC8c.4187A>T (p.Asp1396Val)
c.4190A>T (p.Asp1397Val)
c.2687A>T (p.Asp896Val)
n.4253A>T
c.4253A>T (p.Asp1418Val)
c.4184A>T (p.Asp1395Val)
n.4482A>T
c.4256A>T (p.Asp1419Val)
c.2753A>T (p.Asp918Val)
c.2144A>T (p.Asp715Val)
c.2555A>T (p.Asp852Val)
n.4328A>T
n.4259A>T
n.5909A>T
n.53A>T
n.55A>T
n.23A>T
11g.17395863T>CCA379787796ABCC8c.4187A>G (p.Asp1396Gly)
c.4190A>G (p.Asp1397Gly)
c.2687A>G (p.Asp896Gly)
n.4253A>G
c.4253A>G (p.Asp1418Gly)
c.4184A>G (p.Asp1395Gly)
n.4482A>G
c.4256A>G (p.Asp1419Gly)
c.2753A>G (p.Asp918Gly)
c.2144A>G (p.Asp715Gly)
c.2555A>G (p.Asp852Gly)
n.4328A>G
n.4259A>G
n.5909A>G
n.53A>G
n.55A>G
n.23A>G
11g.17395863T>GCA379787797ABCC8c.4187A>C (p.Asp1396Ala)
c.4190A>C (p.Asp1397Ala)
c.2687A>C (p.Asp896Ala)
n.4253A>C
c.4253A>C (p.Asp1418Ala)
c.4184A>C (p.Asp1395Ala)
n.4482A>C
c.4256A>C (p.Asp1419Ala)
c.2753A>C (p.Asp918Ala)
c.2144A>C (p.Asp715Ala)
c.2555A>C (p.Asp852Ala)
n.4328A>C
n.4259A>C
n.5909A>C
n.53A>C
n.55A>C
n.23A>C

Number of alleles fetched