| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.17395832G>T | CA218408131 | ABCC8 | c.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 |
| 11 | g.17395834G>A | CA5902539 | ABCC8 | c.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 |
| 11 | g.17395837C>T | CA5902540 | ABCC8 | c.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 |
| 11 | g.17395838G>A | CA5902541 | ABCC8 | c.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 |
| 11 | g.17395838G>T | CA597904428 | ABCC8 | c.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 |
| 11 | g.17395840C>T | CA935525150 | ABCC8 | c.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 | |
| 11 | g.17395845_17395847dup | CA674175792 | ABCC8 | c.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 |
| 11 | g.17395847C>T | CA597904429 | ABCC8 | c.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 |
| 11 | g.17395850A>C | CA379787632 | ABCC8 | c.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 | |
| 11 | g.17395850A>G | CA379787635 | ABCC8 | c.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 | |
| 11 | g.17395850A>T | CA379787639 | ABCC8 | c.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 | |
| 11 | g.17395851C>A | CA379787653 | ABCC8 | c.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 | |
| 11 | g.17395851C>G | CA379787646 | ABCC8 | c.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 | |
| 11 | g.17395851C>T | CA379787649 | ABCC8 | c.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 |
| 11 | g.17395852C>A | CA218408148 | ABCC8 | c.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 |
| 11 | g.17395852C>G | CA379787674 | ABCC8 | c.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 | |
| 11 | g.17395852C>T | CA260102 | ABCC8 | c.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 |
| 11 | g.17395853T>A | CA379787684 | ABCC8 | c.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 | |
| 11 | g.17395853T>C | CA473298277 | ABCC8 | c.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 | |
| 11 | g.17395853T>G | CA379787698 | ABCC8 | c.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 | |
| 11 | g.17395854T>A | CA379787707 | ABCC8 | c.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 | |
| 11 | g.17395854T>C | CA379787714 | ABCC8 | c.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 | |
| 11 | g.17395854T>G | CA379787717 | ABCC8 | c.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 | |
| 11 | g.17395855C>A | CA379787724 | ABCC8 | c.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 | |
| 11 | g.17395855C>G | CA379787729 | ABCC8 | c.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 | |
| 11 | g.17395855C>T | CA5902542 | ABCC8 | c.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 |
| 11 | g.17395856G>A | CA5902543 | ABCC8 | c.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 |
| 11 | g.17395856G>C | CA379787735 | ABCC8 | c.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 | |
| 11 | g.17395856G>T | CA379787734 | ABCC8 | c.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 | |
| 11 | g.17395857A>C | CA379787743 | ABCC8 | c.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 | |
| 11 | g.17395857A>G | CA379787746 | ABCC8 | c.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 | |
| 11 | g.17395857A>T | CA379787747 | ABCC8 | c.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 | |
| 11 | g.17395858A>C | CA379787748 | ABCC8 | c.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 | |
| 11 | g.17395858A>G | CA379787749 | ABCC8 | c.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 | |
| 11 | g.17395858A>T | CA379787751 | ABCC8 | c.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 | |
| 11 | g.17395859C>A | CA473298278 | ABCC8 | c.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 | |
| 11 | g.17395859C>G | CA473298279 | ABCC8 | c.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 | |
| 11 | g.17395859C>T | CA5902544 | ABCC8 | c.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 |
| 11 | g.17395860G>A | CA218408157 | ABCC8 | c.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 |
| 11 | g.17395860G>C | CA5902545 | ABCC8 | c.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 |
| 11 | g.17395860G>T | CA379787772 | ABCC8 | c.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 |
| 11 | g.17395861T>A | CA379787776 | ABCC8 | c.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 | |
| 11 | g.17395861T>C | CA379787778 | ABCC8 | c.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 | |
| 11 | g.17395861T>G | CA379787779 | ABCC8 | c.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 | |
| 11 | g.17395862G>A | CA473298280 | ABCC8 | c.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 |
| 11 | g.17395862G>C | CA379787791 | ABCC8 | c.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 | |
| 11 | g.17395862G>T | CA379787783 | ABCC8 | c.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 | |
| 11 | g.17395863T>A | CA379787795 | ABCC8 | c.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 | |
| 11 | g.17395863T>C | CA379787796 | ABCC8 | c.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 | |
| 11 | g.17395863T>G | CA379787797 | ABCC8 | c.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 |