| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.56555740C>A | CA364519775 | DST | c.7850G>T (p.Arg2617Leu) c.8384G>T (p.Arg2795Leu) c.7970G>T (p.Arg2657Leu) n.712G>T c.14741G>T (p.Arg4914Leu) c.6872G>T (p.Arg2291Leu) c.14108G>T (p.Arg4703Leu) n.450G>T c.14642G>T (p.Arg4881Leu) c.14456G>T (p.Arg4819Leu) c.14327G>T (p.Arg4776Leu) c.14228G>T (p.Arg4743Leu) c.14207G>T (p.Arg4736Leu) c.14186G>T (p.Arg4729Leu) c.13130G>T (p.Arg4377Leu) c.14669G>T (p.Arg4890Leu) c.8411G>T (p.Arg2804Leu) c.14768G>T (p.Arg4923Leu) c.14705G>T (p.Arg4902Leu) c.14534G>T (p.Arg4845Leu) c.14144G>T (p.Arg4715Leu) c.9335G>T (p.Arg3112Leu) c.8510G>T (p.Arg2837Leu) c.8276G>T (p.Arg2759Leu) c.8198G>T (p.Arg2733Leu) c.14087G>T (p.Arg4696Leu) | |
| 6 | g.56555740C= | CA1630147875 | DST | c.7850G= (p.Arg2617=) c.8384G= (p.Arg2795=) c.7970G= (p.Arg2657=) n.712G= c.14741G= (p.Arg4914=) c.6872G= (p.Arg2291=) c.14108G= (p.Arg4703=) n.450G= c.14642G= (p.Arg4881=) c.14456G= (p.Arg4819=) c.14327G= (p.Arg4776=) c.14228G= (p.Arg4743=) c.14207G= (p.Arg4736=) c.14186G= (p.Arg4729=) c.13130G= (p.Arg4377=) c.14669G= (p.Arg4890=) c.8411G= (p.Arg2804=) c.14768G= (p.Arg4923=) c.14705G= (p.Arg4902=) c.14534G= (p.Arg4845=) c.14144G= (p.Arg4715=) c.9335G= (p.Arg3112=) c.8510G= (p.Arg2837=) c.8276G= (p.Arg2759=) c.8198G= (p.Arg2733=) c.14087G= (p.Arg4696=) | |
| 6 | g.56555740C>G | CA364519776 | DST | c.7850G>C (p.Arg2617Pro) c.8384G>C (p.Arg2795Pro) c.7970G>C (p.Arg2657Pro) n.712G>C c.14741G>C (p.Arg4914Pro) c.6872G>C (p.Arg2291Pro) c.14108G>C (p.Arg4703Pro) n.450G>C c.14642G>C (p.Arg4881Pro) c.14456G>C (p.Arg4819Pro) c.14327G>C (p.Arg4776Pro) c.14228G>C (p.Arg4743Pro) c.14207G>C (p.Arg4736Pro) c.14186G>C (p.Arg4729Pro) c.13130G>C (p.Arg4377Pro) c.14669G>C (p.Arg4890Pro) c.8411G>C (p.Arg2804Pro) c.14768G>C (p.Arg4923Pro) c.14705G>C (p.Arg4902Pro) c.14534G>C (p.Arg4845Pro) c.14144G>C (p.Arg4715Pro) c.9335G>C (p.Arg3112Pro) c.8510G>C (p.Arg2837Pro) c.8276G>C (p.Arg2759Pro) c.8198G>C (p.Arg2733Pro) c.14087G>C (p.Arg4696Pro) | |
| 6 | g.56555740C>T | CA3867934 | DST | c.7850G>A (p.Arg2617His) c.8384G>A (p.Arg2795His) c.7970G>A (p.Arg2657His) n.712G>A c.14741G>A (p.Arg4914His) c.6872G>A (p.Arg2291His) c.14108G>A (p.Arg4703His) n.450G>A c.14642G>A (p.Arg4881His) c.14456G>A (p.Arg4819His) c.14327G>A (p.Arg4776His) c.14228G>A (p.Arg4743His) c.14207G>A (p.Arg4736His) c.14186G>A (p.Arg4729His) c.13130G>A (p.Arg4377His) c.14669G>A (p.Arg4890His) c.8411G>A (p.Arg2804His) c.14768G>A (p.Arg4923His) c.14705G>A (p.Arg4902His) c.14534G>A (p.Arg4845His) c.14144G>A (p.Arg4715His) c.9335G>A (p.Arg3112His) c.8510G>A (p.Arg2837His) c.8276G>A (p.Arg2759His) c.8198G>A (p.Arg2733His) c.14087G>A (p.Arg4696His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.56555741G>A | CA364519777 | DST | c.7849C>T (p.Arg2617Cys) c.8383C>T (p.Arg2795Cys) c.7969C>T (p.Arg2657Cys) n.711C>T c.14740C>T (p.Arg4914Cys) c.6871C>T (p.Arg2291Cys) c.14107C>T (p.Arg4703Cys) n.449C>T c.14641C>T (p.Arg4881Cys) c.14455C>T (p.Arg4819Cys) c.14326C>T (p.Arg4776Cys) c.14227C>T (p.Arg4743Cys) c.14206C>T (p.Arg4736Cys) c.14185C>T (p.Arg4729Cys) c.13129C>T (p.Arg4377Cys) c.14668C>T (p.Arg4890Cys) c.8410C>T (p.Arg2804Cys) c.14767C>T (p.Arg4923Cys) c.14704C>T (p.Arg4902Cys) c.14533C>T (p.Arg4845Cys) c.14143C>T (p.Arg4715Cys) c.9334C>T (p.Arg3112Cys) c.8509C>T (p.Arg2837Cys) c.8275C>T (p.Arg2759Cys) c.8197C>T (p.Arg2733Cys) c.14086C>T (p.Arg4696Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.56555741G>C | CA364519778 | DST | c.7849C>G (p.Arg2617Gly) c.8383C>G (p.Arg2795Gly) c.7969C>G (p.Arg2657Gly) n.711C>G c.14740C>G (p.Arg4914Gly) c.6871C>G (p.Arg2291Gly) c.14107C>G (p.Arg4703Gly) n.449C>G c.14641C>G (p.Arg4881Gly) c.14455C>G (p.Arg4819Gly) c.14326C>G (p.Arg4776Gly) c.14227C>G (p.Arg4743Gly) c.14206C>G (p.Arg4736Gly) c.14185C>G (p.Arg4729Gly) c.13129C>G (p.Arg4377Gly) c.14668C>G (p.Arg4890Gly) c.8410C>G (p.Arg2804Gly) c.14767C>G (p.Arg4923Gly) c.14704C>G (p.Arg4902Gly) c.14533C>G (p.Arg4845Gly) c.14143C>G (p.Arg4715Gly) c.9334C>G (p.Arg3112Gly) c.8509C>G (p.Arg2837Gly) c.8275C>G (p.Arg2759Gly) c.8197C>G (p.Arg2733Gly) c.14086C>G (p.Arg4696Gly) | |
| 6 | g.56555741G>T | CA364519779 | DST | c.7849C>A (p.Arg2617Ser) c.8383C>A (p.Arg2795Ser) c.7969C>A (p.Arg2657Ser) n.711C>A c.14740C>A (p.Arg4914Ser) c.6871C>A (p.Arg2291Ser) c.14107C>A (p.Arg4703Ser) n.449C>A c.14641C>A (p.Arg4881Ser) c.14455C>A (p.Arg4819Ser) c.14326C>A (p.Arg4776Ser) c.14227C>A (p.Arg4743Ser) c.14206C>A (p.Arg4736Ser) c.14185C>A (p.Arg4729Ser) c.13129C>A (p.Arg4377Ser) c.14668C>A (p.Arg4890Ser) c.8410C>A (p.Arg2804Ser) c.14767C>A (p.Arg4923Ser) c.14704C>A (p.Arg4902Ser) c.14533C>A (p.Arg4845Ser) c.14143C>A (p.Arg4715Ser) c.9334C>A (p.Arg3112Ser) c.8509C>A (p.Arg2837Ser) c.8275C>A (p.Arg2759Ser) c.8197C>A (p.Arg2733Ser) c.14086C>A (p.Arg4696Ser) | |
| 6 | g.56555742T>A | CA364519780 | DST | c.7848A>T (p.Leu2616Phe) c.8382A>T (p.Leu2794Phe) c.7968A>T (p.Leu2656Phe) n.710A>T c.14739A>T (p.Leu4913Phe) c.6870A>T (p.Leu2290Phe) c.14106A>T (p.Leu4702Phe) n.448A>T c.14640A>T (p.Leu4880Phe) c.14454A>T (p.Leu4818Phe) c.14325A>T (p.Leu4775Phe) c.14226A>T (p.Leu4742Phe) c.14205A>T (p.Leu4735Phe) c.14184A>T (p.Leu4728Phe) c.13128A>T (p.Leu4376Phe) c.14667A>T (p.Leu4889Phe) c.8409A>T (p.Leu2803Phe) c.14766A>T (p.Leu4922Phe) c.14703A>T (p.Leu4901Phe) c.14532A>T (p.Leu4844Phe) c.14142A>T (p.Leu4714Phe) c.9333A>T (p.Leu3111Phe) c.8508A>T (p.Leu2836Phe) c.8274A>T (p.Leu2758Phe) c.8196A>T (p.Leu2732Phe) c.14085A>T (p.Leu4695Phe) | |
| 6 | g.56555742T>C | CA450620019 | DST | c.7848A>G (p.Leu2616=) c.8382A>G (p.Leu2794=) c.7968A>G (p.Leu2656=) n.710A>G c.14739A>G (p.Leu4913=) c.6870A>G (p.Leu2290=) c.14106A>G (p.Leu4702=) n.448A>G c.14640A>G (p.Leu4880=) c.14454A>G (p.Leu4818=) c.14325A>G (p.Leu4775=) c.14226A>G (p.Leu4742=) c.14205A>G (p.Leu4735=) c.14184A>G (p.Leu4728=) c.13128A>G (p.Leu4376=) c.14667A>G (p.Leu4889=) c.8409A>G (p.Leu2803=) c.14766A>G (p.Leu4922=) c.14703A>G (p.Leu4901=) c.14532A>G (p.Leu4844=) c.14142A>G (p.Leu4714=) c.9333A>G (p.Leu3111=) c.8508A>G (p.Leu2836=) c.8274A>G (p.Leu2758=) c.8196A>G (p.Leu2732=) c.14085A>G (p.Leu4695=) | |
| 6 | g.56555742T>G | CA364519781 | DST | c.7848A>C (p.Leu2616Phe) c.8382A>C (p.Leu2794Phe) c.7968A>C (p.Leu2656Phe) n.710A>C c.14739A>C (p.Leu4913Phe) c.6870A>C (p.Leu2290Phe) c.14106A>C (p.Leu4702Phe) n.448A>C c.14640A>C (p.Leu4880Phe) c.14454A>C (p.Leu4818Phe) c.14325A>C (p.Leu4775Phe) c.14226A>C (p.Leu4742Phe) c.14205A>C (p.Leu4735Phe) c.14184A>C (p.Leu4728Phe) c.13128A>C (p.Leu4376Phe) c.14667A>C (p.Leu4889Phe) c.8409A>C (p.Leu2803Phe) c.14766A>C (p.Leu4922Phe) c.14703A>C (p.Leu4901Phe) c.14532A>C (p.Leu4844Phe) c.14142A>C (p.Leu4714Phe) c.9333A>C (p.Leu3111Phe) c.8508A>C (p.Leu2836Phe) c.8274A>C (p.Leu2758Phe) c.8196A>C (p.Leu2732Phe) c.14085A>C (p.Leu4695Phe) | |
| 6 | g.56555743A>C | CA364519782 | DST | c.7847T>G (p.Leu2616Ter) c.8381T>G (p.Leu2794Ter) c.7967T>G (p.Leu2656Ter) n.709T>G c.14738T>G (p.Leu4913Ter) c.6869T>G (p.Leu2290Ter) c.14105T>G (p.Leu4702Ter) n.447T>G c.14639T>G (p.Leu4880Ter) c.14453T>G (p.Leu4818Ter) c.14324T>G (p.Leu4775Ter) c.14225T>G (p.Leu4742Ter) c.14204T>G (p.Leu4735Ter) c.14183T>G (p.Leu4728Ter) c.13127T>G (p.Leu4376Ter) c.14666T>G (p.Leu4889Ter) c.8408T>G (p.Leu2803Ter) c.14765T>G (p.Leu4922Ter) c.14702T>G (p.Leu4901Ter) c.14531T>G (p.Leu4844Ter) c.14141T>G (p.Leu4714Ter) c.9332T>G (p.Leu3111Ter) c.8507T>G (p.Leu2836Ter) c.8273T>G (p.Leu2758Ter) c.8195T>G (p.Leu2732Ter) c.14084T>G (p.Leu4695Ter) | |
| 6 | g.56555743A>G | CA364519783 | DST | c.7847T>C (p.Leu2616Ser) c.8381T>C (p.Leu2794Ser) c.7967T>C (p.Leu2656Ser) n.709T>C c.14738T>C (p.Leu4913Ser) c.6869T>C (p.Leu2290Ser) c.14105T>C (p.Leu4702Ser) n.447T>C c.14639T>C (p.Leu4880Ser) c.14453T>C (p.Leu4818Ser) c.14324T>C (p.Leu4775Ser) c.14225T>C (p.Leu4742Ser) c.14204T>C (p.Leu4735Ser) c.14183T>C (p.Leu4728Ser) c.13127T>C (p.Leu4376Ser) c.14666T>C (p.Leu4889Ser) c.8408T>C (p.Leu2803Ser) c.14765T>C (p.Leu4922Ser) c.14702T>C (p.Leu4901Ser) c.14531T>C (p.Leu4844Ser) c.14141T>C (p.Leu4714Ser) c.9332T>C (p.Leu3111Ser) c.8507T>C (p.Leu2836Ser) c.8273T>C (p.Leu2758Ser) c.8195T>C (p.Leu2732Ser) c.14084T>C (p.Leu4695Ser) | |
| 6 | g.56555743A>T | CA364519784 | DST | c.7847T>A (p.Leu2616Ter) c.8381T>A (p.Leu2794Ter) c.7967T>A (p.Leu2656Ter) n.709T>A c.14738T>A (p.Leu4913Ter) c.6869T>A (p.Leu2290Ter) c.14105T>A (p.Leu4702Ter) n.447T>A c.14639T>A (p.Leu4880Ter) c.14453T>A (p.Leu4818Ter) c.14324T>A (p.Leu4775Ter) c.14225T>A (p.Leu4742Ter) c.14204T>A (p.Leu4735Ter) c.14183T>A (p.Leu4728Ter) c.13127T>A (p.Leu4376Ter) c.14666T>A (p.Leu4889Ter) c.8408T>A (p.Leu2803Ter) c.14765T>A (p.Leu4922Ter) c.14702T>A (p.Leu4901Ter) c.14531T>A (p.Leu4844Ter) c.14141T>A (p.Leu4714Ter) c.9332T>A (p.Leu3111Ter) c.8507T>A (p.Leu2836Ter) c.8273T>A (p.Leu2758Ter) c.8195T>A (p.Leu2732Ter) c.14084T>A (p.Leu4695Ter) | |
| 6 | g.56555744A>C | CA364519785 | DST | c.7846T>G (p.Leu2616Val) c.8380T>G (p.Leu2794Val) c.7966T>G (p.Leu2656Val) n.708T>G c.14737T>G (p.Leu4913Val) c.6868T>G (p.Leu2290Val) c.14104T>G (p.Leu4702Val) n.446T>G c.14638T>G (p.Leu4880Val) c.14452T>G (p.Leu4818Val) c.14323T>G (p.Leu4775Val) c.14224T>G (p.Leu4742Val) c.14203T>G (p.Leu4735Val) c.14182T>G (p.Leu4728Val) c.13126T>G (p.Leu4376Val) c.14665T>G (p.Leu4889Val) c.8407T>G (p.Leu2803Val) c.14764T>G (p.Leu4922Val) c.14701T>G (p.Leu4901Val) c.14530T>G (p.Leu4844Val) c.14140T>G (p.Leu4714Val) c.9331T>G (p.Leu3111Val) c.8506T>G (p.Leu2836Val) c.8272T>G (p.Leu2758Val) c.8194T>G (p.Leu2732Val) c.14083T>G (p.Leu4695Val) | |
| 6 | g.56555744A>G | CA450620028 | DST | c.7846T>C (p.Leu2616=) c.8380T>C (p.Leu2794=) c.7966T>C (p.Leu2656=) n.708T>C c.14737T>C (p.Leu4913=) c.6868T>C (p.Leu2290=) c.14104T>C (p.Leu4702=) n.446T>C c.14638T>C (p.Leu4880=) c.14452T>C (p.Leu4818=) c.14323T>C (p.Leu4775=) c.14224T>C (p.Leu4742=) c.14203T>C (p.Leu4735=) c.14182T>C (p.Leu4728=) c.13126T>C (p.Leu4376=) c.14665T>C (p.Leu4889=) c.8407T>C (p.Leu2803=) c.14764T>C (p.Leu4922=) c.14701T>C (p.Leu4901=) c.14530T>C (p.Leu4844=) c.14140T>C (p.Leu4714=) c.9331T>C (p.Leu3111=) c.8506T>C (p.Leu2836=) c.8272T>C (p.Leu2758=) c.8194T>C (p.Leu2732=) c.14083T>C (p.Leu4695=) | |
| 6 | g.56555744A>T | CA364519786 | DST | c.7846T>A (p.Leu2616Ile) c.8380T>A (p.Leu2794Ile) c.7966T>A (p.Leu2656Ile) n.708T>A c.14737T>A (p.Leu4913Ile) c.6868T>A (p.Leu2290Ile) c.14104T>A (p.Leu4702Ile) n.446T>A c.14638T>A (p.Leu4880Ile) c.14452T>A (p.Leu4818Ile) c.14323T>A (p.Leu4775Ile) c.14224T>A (p.Leu4742Ile) c.14203T>A (p.Leu4735Ile) c.14182T>A (p.Leu4728Ile) c.13126T>A (p.Leu4376Ile) c.14665T>A (p.Leu4889Ile) c.8407T>A (p.Leu2803Ile) c.14764T>A (p.Leu4922Ile) c.14701T>A (p.Leu4901Ile) c.14530T>A (p.Leu4844Ile) c.14140T>A (p.Leu4714Ile) c.9331T>A (p.Leu3111Ile) c.8506T>A (p.Leu2836Ile) c.8272T>A (p.Leu2758Ile) c.8194T>A (p.Leu2732Ile) c.14083T>A (p.Leu4695Ile) | |
| 6 | g.56555745A= | CA1630147876 | DST | c.7845T= (p.Ser2615=) c.8379T= (p.Ser2793=) c.7965T= (p.Ser2655=) n.707T= c.14736T= (p.Ser4912=) c.6867T= (p.Ser2289=) c.14103T= (p.Ser4701=) n.445T= c.14637T= (p.Ser4879=) c.14451T= (p.Ser4817=) c.14322T= (p.Ser4774=) c.14223T= (p.Ser4741=) c.14202T= (p.Ser4734=) c.14181T= (p.Ser4727=) c.13125T= (p.Ser4375=) c.14664T= (p.Ser4888=) c.8406T= (p.Ser2802=) c.14763T= (p.Ser4921=) c.14700T= (p.Ser4900=) c.14529T= (p.Ser4843=) c.14139T= (p.Ser4713=) c.9330T= (p.Ser3110=) c.8505T= (p.Ser2835=) c.8271T= (p.Ser2757=) c.8193T= (p.Ser2731=) c.14082T= (p.Ser4694=) | |
| 6 | g.56555745A>C | CA3867935 | DST | c.7845T>G (p.Ser2615=) c.8379T>G (p.Ser2793=) c.7965T>G (p.Ser2655=) n.707T>G c.14736T>G (p.Ser4912=) c.6867T>G (p.Ser2289=) c.14103T>G (p.Ser4701=) n.445T>G c.14637T>G (p.Ser4879=) c.14451T>G (p.Ser4817=) c.14322T>G (p.Ser4774=) c.14223T>G (p.Ser4741=) c.14202T>G (p.Ser4734=) c.14181T>G (p.Ser4727=) c.13125T>G (p.Ser4375=) c.14664T>G (p.Ser4888=) c.8406T>G (p.Ser2802=) c.14763T>G (p.Ser4921=) c.14700T>G (p.Ser4900=) c.14529T>G (p.Ser4843=) c.14139T>G (p.Ser4713=) c.9330T>G (p.Ser3110=) c.8505T>G (p.Ser2835=) c.8271T>G (p.Ser2757=) c.8193T>G (p.Ser2731=) c.14082T>G (p.Ser4694=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.56555745A>G | CA450620030 | DST | c.7845T>C (p.Ser2615=) c.8379T>C (p.Ser2793=) c.7965T>C (p.Ser2655=) n.707T>C c.14736T>C (p.Ser4912=) c.6867T>C (p.Ser2289=) c.14103T>C (p.Ser4701=) n.445T>C c.14637T>C (p.Ser4879=) c.14451T>C (p.Ser4817=) c.14322T>C (p.Ser4774=) c.14223T>C (p.Ser4741=) c.14202T>C (p.Ser4734=) c.14181T>C (p.Ser4727=) c.13125T>C (p.Ser4375=) c.14664T>C (p.Ser4888=) c.8406T>C (p.Ser2802=) c.14763T>C (p.Ser4921=) c.14700T>C (p.Ser4900=) c.14529T>C (p.Ser4843=) c.14139T>C (p.Ser4713=) c.9330T>C (p.Ser3110=) c.8505T>C (p.Ser2835=) c.8271T>C (p.Ser2757=) c.8193T>C (p.Ser2731=) c.14082T>C (p.Ser4694=) | |
| 6 | g.56555745A>T | CA450620033 | DST | c.7845T>A (p.Ser2615=) c.8379T>A (p.Ser2793=) c.7965T>A (p.Ser2655=) n.707T>A c.14736T>A (p.Ser4912=) c.6867T>A (p.Ser2289=) c.14103T>A (p.Ser4701=) n.445T>A c.14637T>A (p.Ser4879=) c.14451T>A (p.Ser4817=) c.14322T>A (p.Ser4774=) c.14223T>A (p.Ser4741=) c.14202T>A (p.Ser4734=) c.14181T>A (p.Ser4727=) c.13125T>A (p.Ser4375=) c.14664T>A (p.Ser4888=) c.8406T>A (p.Ser2802=) c.14763T>A (p.Ser4921=) c.14700T>A (p.Ser4900=) c.14529T>A (p.Ser4843=) c.14139T>A (p.Ser4713=) c.9330T>A (p.Ser3110=) c.8505T>A (p.Ser2835=) c.8271T>A (p.Ser2757=) c.8193T>A (p.Ser2731=) c.14082T>A (p.Ser4694=) | |
| 6 | g.56555746G>A | CA3867936 | DST | c.7844C>T (p.Ser2615Phe) c.8378C>T (p.Ser2793Phe) c.7964C>T (p.Ser2655Phe) n.706C>T c.14735C>T (p.Ser4912Phe) c.6866C>T (p.Ser2289Phe) c.14102C>T (p.Ser4701Phe) n.444C>T c.14636C>T (p.Ser4879Phe) c.14450C>T (p.Ser4817Phe) c.14321C>T (p.Ser4774Phe) c.14222C>T (p.Ser4741Phe) c.14201C>T (p.Ser4734Phe) c.14180C>T (p.Ser4727Phe) c.13124C>T (p.Ser4375Phe) c.14663C>T (p.Ser4888Phe) c.8405C>T (p.Ser2802Phe) c.14762C>T (p.Ser4921Phe) c.14699C>T (p.Ser4900Phe) c.14528C>T (p.Ser4843Phe) c.14138C>T (p.Ser4713Phe) c.9329C>T (p.Ser3110Phe) c.8504C>T (p.Ser2835Phe) c.8270C>T (p.Ser2757Phe) c.8192C>T (p.Ser2731Phe) c.14081C>T (p.Ser4694Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.56555746G>C | CA364519787 | DST | c.7844C>G (p.Ser2615Cys) c.8378C>G (p.Ser2793Cys) c.7964C>G (p.Ser2655Cys) n.706C>G c.14735C>G (p.Ser4912Cys) c.6866C>G (p.Ser2289Cys) c.14102C>G (p.Ser4701Cys) n.444C>G c.14636C>G (p.Ser4879Cys) c.14450C>G (p.Ser4817Cys) c.14321C>G (p.Ser4774Cys) c.14222C>G (p.Ser4741Cys) c.14201C>G (p.Ser4734Cys) c.14180C>G (p.Ser4727Cys) c.13124C>G (p.Ser4375Cys) c.14663C>G (p.Ser4888Cys) c.8405C>G (p.Ser2802Cys) c.14762C>G (p.Ser4921Cys) c.14699C>G (p.Ser4900Cys) c.14528C>G (p.Ser4843Cys) c.14138C>G (p.Ser4713Cys) c.9329C>G (p.Ser3110Cys) c.8504C>G (p.Ser2835Cys) c.8270C>G (p.Ser2757Cys) c.8192C>G (p.Ser2731Cys) c.14081C>G (p.Ser4694Cys) | gnomAD v4 |
| 6 | g.56555746G= | CA1630147877 | DST | c.7844C= (p.Ser2615=) c.8378C= (p.Ser2793=) c.7964C= (p.Ser2655=) n.706C= c.14735C= (p.Ser4912=) c.6866C= (p.Ser2289=) c.14102C= (p.Ser4701=) n.444C= c.14636C= (p.Ser4879=) c.14450C= (p.Ser4817=) c.14321C= (p.Ser4774=) c.14222C= (p.Ser4741=) c.14201C= (p.Ser4734=) c.14180C= (p.Ser4727=) c.13124C= (p.Ser4375=) c.14663C= (p.Ser4888=) c.8405C= (p.Ser2802=) c.14762C= (p.Ser4921=) c.14699C= (p.Ser4900=) c.14528C= (p.Ser4843=) c.14138C= (p.Ser4713=) c.9329C= (p.Ser3110=) c.8504C= (p.Ser2835=) c.8270C= (p.Ser2757=) c.8192C= (p.Ser2731=) c.14081C= (p.Ser4694=) | |
| 6 | g.56555746G>T | CA364519788 | DST | c.7844C>A (p.Ser2615Tyr) c.8378C>A (p.Ser2793Tyr) c.7964C>A (p.Ser2655Tyr) n.706C>A c.14735C>A (p.Ser4912Tyr) c.6866C>A (p.Ser2289Tyr) c.14102C>A (p.Ser4701Tyr) n.444C>A c.14636C>A (p.Ser4879Tyr) c.14450C>A (p.Ser4817Tyr) c.14321C>A (p.Ser4774Tyr) c.14222C>A (p.Ser4741Tyr) c.14201C>A (p.Ser4734Tyr) c.14180C>A (p.Ser4727Tyr) c.13124C>A (p.Ser4375Tyr) c.14663C>A (p.Ser4888Tyr) c.8405C>A (p.Ser2802Tyr) c.14762C>A (p.Ser4921Tyr) c.14699C>A (p.Ser4900Tyr) c.14528C>A (p.Ser4843Tyr) c.14138C>A (p.Ser4713Tyr) c.9329C>A (p.Ser3110Tyr) c.8504C>A (p.Ser2835Tyr) c.8270C>A (p.Ser2757Tyr) c.8192C>A (p.Ser2731Tyr) c.14081C>A (p.Ser4694Tyr) | |
| 6 | g.56555747A>C | CA364519789 | DST | c.7843T>G (p.Ser2615Ala) c.8377T>G (p.Ser2793Ala) c.7963T>G (p.Ser2655Ala) n.705T>G c.14734T>G (p.Ser4912Ala) c.6865T>G (p.Ser2289Ala) c.14101T>G (p.Ser4701Ala) n.443T>G c.14635T>G (p.Ser4879Ala) c.14449T>G (p.Ser4817Ala) c.14320T>G (p.Ser4774Ala) c.14221T>G (p.Ser4741Ala) c.14200T>G (p.Ser4734Ala) c.14179T>G (p.Ser4727Ala) c.13123T>G (p.Ser4375Ala) c.14662T>G (p.Ser4888Ala) c.8404T>G (p.Ser2802Ala) c.14761T>G (p.Ser4921Ala) c.14698T>G (p.Ser4900Ala) c.14527T>G (p.Ser4843Ala) c.14137T>G (p.Ser4713Ala) c.9328T>G (p.Ser3110Ala) c.8503T>G (p.Ser2835Ala) c.8269T>G (p.Ser2757Ala) c.8191T>G (p.Ser2731Ala) c.14080T>G (p.Ser4694Ala) | |
| 6 | g.56555747A>G | CA364519790 | DST | c.7843T>C (p.Ser2615Pro) c.8377T>C (p.Ser2793Pro) c.7963T>C (p.Ser2655Pro) n.705T>C c.14734T>C (p.Ser4912Pro) c.6865T>C (p.Ser2289Pro) c.14101T>C (p.Ser4701Pro) n.443T>C c.14635T>C (p.Ser4879Pro) c.14449T>C (p.Ser4817Pro) c.14320T>C (p.Ser4774Pro) c.14221T>C (p.Ser4741Pro) c.14200T>C (p.Ser4734Pro) c.14179T>C (p.Ser4727Pro) c.13123T>C (p.Ser4375Pro) c.14662T>C (p.Ser4888Pro) c.8404T>C (p.Ser2802Pro) c.14761T>C (p.Ser4921Pro) c.14698T>C (p.Ser4900Pro) c.14527T>C (p.Ser4843Pro) c.14137T>C (p.Ser4713Pro) c.9328T>C (p.Ser3110Pro) c.8503T>C (p.Ser2835Pro) c.8269T>C (p.Ser2757Pro) c.8191T>C (p.Ser2731Pro) c.14080T>C (p.Ser4694Pro) | |
| 6 | g.56555747A>T | CA364519791 | DST | c.7843T>A (p.Ser2615Thr) c.8377T>A (p.Ser2793Thr) c.7963T>A (p.Ser2655Thr) n.705T>A c.14734T>A (p.Ser4912Thr) c.6865T>A (p.Ser2289Thr) c.14101T>A (p.Ser4701Thr) n.443T>A c.14635T>A (p.Ser4879Thr) c.14449T>A (p.Ser4817Thr) c.14320T>A (p.Ser4774Thr) c.14221T>A (p.Ser4741Thr) c.14200T>A (p.Ser4734Thr) c.14179T>A (p.Ser4727Thr) c.13123T>A (p.Ser4375Thr) c.14662T>A (p.Ser4888Thr) c.8404T>A (p.Ser2802Thr) c.14761T>A (p.Ser4921Thr) c.14698T>A (p.Ser4900Thr) c.14527T>A (p.Ser4843Thr) c.14137T>A (p.Ser4713Thr) c.9328T>A (p.Ser3110Thr) c.8503T>A (p.Ser2835Thr) c.8269T>A (p.Ser2757Thr) c.8191T>A (p.Ser2731Thr) c.14080T>A (p.Ser4694Thr) | |
| 6 | g.56555748A>C | CA450620044 | DST | c.7842T>G (p.Pro2614=) c.8376T>G (p.Pro2792=) c.7962T>G (p.Pro2654=) n.704T>G c.14733T>G (p.Pro4911=) c.6864T>G (p.Pro2288=) c.14100T>G (p.Pro4700=) n.442T>G c.14634T>G (p.Pro4878=) c.14448T>G (p.Pro4816=) c.14319T>G (p.Pro4773=) c.14220T>G (p.Pro4740=) c.14199T>G (p.Pro4733=) c.14178T>G (p.Pro4726=) c.13122T>G (p.Pro4374=) c.14661T>G (p.Pro4887=) c.8403T>G (p.Pro2801=) c.14760T>G (p.Pro4920=) c.14697T>G (p.Pro4899=) c.14526T>G (p.Pro4842=) c.14136T>G (p.Pro4712=) c.9327T>G (p.Pro3109=) c.8502T>G (p.Pro2834=) c.8268T>G (p.Pro2756=) c.8190T>G (p.Pro2730=) c.14079T>G (p.Pro4693=) | |
| 6 | g.56555748A>G | CA450620041 | DST | c.7842T>C (p.Pro2614=) c.8376T>C (p.Pro2792=) c.7962T>C (p.Pro2654=) n.704T>C c.14733T>C (p.Pro4911=) c.6864T>C (p.Pro2288=) c.14100T>C (p.Pro4700=) n.442T>C c.14634T>C (p.Pro4878=) c.14448T>C (p.Pro4816=) c.14319T>C (p.Pro4773=) c.14220T>C (p.Pro4740=) c.14199T>C (p.Pro4733=) c.14178T>C (p.Pro4726=) c.13122T>C (p.Pro4374=) c.14661T>C (p.Pro4887=) c.8403T>C (p.Pro2801=) c.14760T>C (p.Pro4920=) c.14697T>C (p.Pro4899=) c.14526T>C (p.Pro4842=) c.14136T>C (p.Pro4712=) c.9327T>C (p.Pro3109=) c.8502T>C (p.Pro2834=) c.8268T>C (p.Pro2756=) c.8190T>C (p.Pro2730=) c.14079T>C (p.Pro4693=) | |
| 6 | g.56555748A>T | CA450620043 | DST | c.7842T>A (p.Pro2614=) c.8376T>A (p.Pro2792=) c.7962T>A (p.Pro2654=) n.704T>A c.14733T>A (p.Pro4911=) c.6864T>A (p.Pro2288=) c.14100T>A (p.Pro4700=) n.442T>A c.14634T>A (p.Pro4878=) c.14448T>A (p.Pro4816=) c.14319T>A (p.Pro4773=) c.14220T>A (p.Pro4740=) c.14199T>A (p.Pro4733=) c.14178T>A (p.Pro4726=) c.13122T>A (p.Pro4374=) c.14661T>A (p.Pro4887=) c.8403T>A (p.Pro2801=) c.14760T>A (p.Pro4920=) c.14697T>A (p.Pro4899=) c.14526T>A (p.Pro4842=) c.14136T>A (p.Pro4712=) c.9327T>A (p.Pro3109=) c.8502T>A (p.Pro2834=) c.8268T>A (p.Pro2756=) c.8190T>A (p.Pro2730=) c.14079T>A (p.Pro4693=) | |
| 6 | g.56555749G>A | CA364519792 | DST | c.7841C>T (p.Pro2614Leu) c.8375C>T (p.Pro2792Leu) c.7961C>T (p.Pro2654Leu) n.703C>T c.14732C>T (p.Pro4911Leu) c.6863C>T (p.Pro2288Leu) c.14099C>T (p.Pro4700Leu) n.441C>T c.14633C>T (p.Pro4878Leu) c.14447C>T (p.Pro4816Leu) c.14318C>T (p.Pro4773Leu) c.14219C>T (p.Pro4740Leu) c.14198C>T (p.Pro4733Leu) c.14177C>T (p.Pro4726Leu) c.13121C>T (p.Pro4374Leu) c.14660C>T (p.Pro4887Leu) c.8402C>T (p.Pro2801Leu) c.14759C>T (p.Pro4920Leu) c.14696C>T (p.Pro4899Leu) c.14525C>T (p.Pro4842Leu) c.14135C>T (p.Pro4712Leu) c.9326C>T (p.Pro3109Leu) c.8501C>T (p.Pro2834Leu) c.8267C>T (p.Pro2756Leu) c.8189C>T (p.Pro2730Leu) c.14078C>T (p.Pro4693Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.56555749G>C | CA364519793 | DST | c.7841C>G (p.Pro2614Arg) c.8375C>G (p.Pro2792Arg) c.7961C>G (p.Pro2654Arg) n.703C>G c.14732C>G (p.Pro4911Arg) c.6863C>G (p.Pro2288Arg) c.14099C>G (p.Pro4700Arg) n.441C>G c.14633C>G (p.Pro4878Arg) c.14447C>G (p.Pro4816Arg) c.14318C>G (p.Pro4773Arg) c.14219C>G (p.Pro4740Arg) c.14198C>G (p.Pro4733Arg) c.14177C>G (p.Pro4726Arg) c.13121C>G (p.Pro4374Arg) c.14660C>G (p.Pro4887Arg) c.8402C>G (p.Pro2801Arg) c.14759C>G (p.Pro4920Arg) c.14696C>G (p.Pro4899Arg) c.14525C>G (p.Pro4842Arg) c.14135C>G (p.Pro4712Arg) c.9326C>G (p.Pro3109Arg) c.8501C>G (p.Pro2834Arg) c.8267C>G (p.Pro2756Arg) c.8189C>G (p.Pro2730Arg) c.14078C>G (p.Pro4693Arg) | |
| 6 | g.56555749G= | CA1630147878 | DST | c.7841C= (p.Pro2614=) c.8375C= (p.Pro2792=) c.7961C= (p.Pro2654=) n.703C= c.14732C= (p.Pro4911=) c.6863C= (p.Pro2288=) c.14099C= (p.Pro4700=) n.441C= c.14633C= (p.Pro4878=) c.14447C= (p.Pro4816=) c.14318C= (p.Pro4773=) c.14219C= (p.Pro4740=) c.14198C= (p.Pro4733=) c.14177C= (p.Pro4726=) c.13121C= (p.Pro4374=) c.14660C= (p.Pro4887=) c.8402C= (p.Pro2801=) c.14759C= (p.Pro4920=) c.14696C= (p.Pro4899=) c.14525C= (p.Pro4842=) c.14135C= (p.Pro4712=) c.9326C= (p.Pro3109=) c.8501C= (p.Pro2834=) c.8267C= (p.Pro2756=) c.8189C= (p.Pro2730=) c.14078C= (p.Pro4693=) | |
| 6 | g.56555749G>T | CA364519794 | DST | c.7841C>A (p.Pro2614His) c.8375C>A (p.Pro2792His) c.7961C>A (p.Pro2654His) n.703C>A c.14732C>A (p.Pro4911His) c.6863C>A (p.Pro2288His) c.14099C>A (p.Pro4700His) n.441C>A c.14633C>A (p.Pro4878His) c.14447C>A (p.Pro4816His) c.14318C>A (p.Pro4773His) c.14219C>A (p.Pro4740His) c.14198C>A (p.Pro4733His) c.14177C>A (p.Pro4726His) c.13121C>A (p.Pro4374His) c.14660C>A (p.Pro4887His) c.8402C>A (p.Pro2801His) c.14759C>A (p.Pro4920His) c.14696C>A (p.Pro4899His) c.14525C>A (p.Pro4842His) c.14135C>A (p.Pro4712His) c.9326C>A (p.Pro3109His) c.8501C>A (p.Pro2834His) c.8267C>A (p.Pro2756His) c.8189C>A (p.Pro2730His) c.14078C>A (p.Pro4693His) | |
| 6 | g.56555750G>A | CA364519795 | DST | c.7840C>T (p.Pro2614Ser) c.8374C>T (p.Pro2792Ser) c.7960C>T (p.Pro2654Ser) n.702C>T c.14731C>T (p.Pro4911Ser) c.6862C>T (p.Pro2288Ser) c.14098C>T (p.Pro4700Ser) n.440C>T c.14632C>T (p.Pro4878Ser) c.14446C>T (p.Pro4816Ser) c.14317C>T (p.Pro4773Ser) c.14218C>T (p.Pro4740Ser) c.14197C>T (p.Pro4733Ser) c.14176C>T (p.Pro4726Ser) c.13120C>T (p.Pro4374Ser) c.14659C>T (p.Pro4887Ser) c.8401C>T (p.Pro2801Ser) c.14758C>T (p.Pro4920Ser) c.14695C>T (p.Pro4899Ser) c.14524C>T (p.Pro4842Ser) c.14134C>T (p.Pro4712Ser) c.9325C>T (p.Pro3109Ser) c.8500C>T (p.Pro2834Ser) c.8266C>T (p.Pro2756Ser) c.8188C>T (p.Pro2730Ser) c.14077C>T (p.Pro4693Ser) | gnomAD v4 |
| 6 | g.56555750G>C | CA364519796 | DST | c.7840C>G (p.Pro2614Ala) c.8374C>G (p.Pro2792Ala) c.7960C>G (p.Pro2654Ala) n.702C>G c.14731C>G (p.Pro4911Ala) c.6862C>G (p.Pro2288Ala) c.14098C>G (p.Pro4700Ala) n.440C>G c.14632C>G (p.Pro4878Ala) c.14446C>G (p.Pro4816Ala) c.14317C>G (p.Pro4773Ala) c.14218C>G (p.Pro4740Ala) c.14197C>G (p.Pro4733Ala) c.14176C>G (p.Pro4726Ala) c.13120C>G (p.Pro4374Ala) c.14659C>G (p.Pro4887Ala) c.8401C>G (p.Pro2801Ala) c.14758C>G (p.Pro4920Ala) c.14695C>G (p.Pro4899Ala) c.14524C>G (p.Pro4842Ala) c.14134C>G (p.Pro4712Ala) c.9325C>G (p.Pro3109Ala) c.8500C>G (p.Pro2834Ala) c.8266C>G (p.Pro2756Ala) c.8188C>G (p.Pro2730Ala) c.14077C>G (p.Pro4693Ala) | |
| 6 | g.56555750G= | CA1630147879 | DST | c.7840C= (p.Pro2614=) c.8374C= (p.Pro2792=) c.7960C= (p.Pro2654=) n.702C= c.14731C= (p.Pro4911=) c.6862C= (p.Pro2288=) c.14098C= (p.Pro4700=) n.440C= c.14632C= (p.Pro4878=) c.14446C= (p.Pro4816=) c.14317C= (p.Pro4773=) c.14218C= (p.Pro4740=) c.14197C= (p.Pro4733=) c.14176C= (p.Pro4726=) c.13120C= (p.Pro4374=) c.14659C= (p.Pro4887=) c.8401C= (p.Pro2801=) c.14758C= (p.Pro4920=) c.14695C= (p.Pro4899=) c.14524C= (p.Pro4842=) c.14134C= (p.Pro4712=) c.9325C= (p.Pro3109=) c.8500C= (p.Pro2834=) c.8266C= (p.Pro2756=) c.8188C= (p.Pro2730=) c.14077C= (p.Pro4693=) | |
| 6 | g.56555750G>T | CA3867937 | DST | c.7840C>A (p.Pro2614Thr) c.8374C>A (p.Pro2792Thr) c.7960C>A (p.Pro2654Thr) n.702C>A c.14731C>A (p.Pro4911Thr) c.6862C>A (p.Pro2288Thr) c.14098C>A (p.Pro4700Thr) n.440C>A c.14632C>A (p.Pro4878Thr) c.14446C>A (p.Pro4816Thr) c.14317C>A (p.Pro4773Thr) c.14218C>A (p.Pro4740Thr) c.14197C>A (p.Pro4733Thr) c.14176C>A (p.Pro4726Thr) c.13120C>A (p.Pro4374Thr) c.14659C>A (p.Pro4887Thr) c.8401C>A (p.Pro2801Thr) c.14758C>A (p.Pro4920Thr) c.14695C>A (p.Pro4899Thr) c.14524C>A (p.Pro4842Thr) c.14134C>A (p.Pro4712Thr) c.9325C>A (p.Pro3109Thr) c.8500C>A (p.Pro2834Thr) c.8266C>A (p.Pro2756Thr) c.8188C>A (p.Pro2730Thr) c.14077C>A (p.Pro4693Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.56555751G>A | CA450620048 | DST | c.7839C>T (p.Asp2613=) c.8373C>T (p.Asp2791=) c.7959C>T (p.Asp2653=) n.701C>T c.14730C>T (p.Asp4910=) c.6861C>T (p.Asp2287=) c.14097C>T (p.Asp4699=) n.439C>T c.14631C>T (p.Asp4877=) c.14445C>T (p.Asp4815=) c.14316C>T (p.Asp4772=) c.14217C>T (p.Asp4739=) c.14196C>T (p.Asp4732=) c.14175C>T (p.Asp4725=) c.13119C>T (p.Asp4373=) c.14658C>T (p.Asp4886=) c.8400C>T (p.Asp2800=) c.14757C>T (p.Asp4919=) c.14694C>T (p.Asp4898=) c.14523C>T (p.Asp4841=) c.14133C>T (p.Asp4711=) c.9324C>T (p.Asp3108=) c.8499C>T (p.Asp2833=) c.8265C>T (p.Asp2755=) c.8187C>T (p.Asp2729=) c.14076C>T (p.Asp4692=) | COSMIC COSMIC |
| 6 | g.56555751G>C | CA364519797 | DST | c.7839C>G (p.Asp2613Glu) c.8373C>G (p.Asp2791Glu) c.7959C>G (p.Asp2653Glu) n.701C>G c.14730C>G (p.Asp4910Glu) c.6861C>G (p.Asp2287Glu) c.14097C>G (p.Asp4699Glu) n.439C>G c.14631C>G (p.Asp4877Glu) c.14445C>G (p.Asp4815Glu) c.14316C>G (p.Asp4772Glu) c.14217C>G (p.Asp4739Glu) c.14196C>G (p.Asp4732Glu) c.14175C>G (p.Asp4725Glu) c.13119C>G (p.Asp4373Glu) c.14658C>G (p.Asp4886Glu) c.8400C>G (p.Asp2800Glu) c.14757C>G (p.Asp4919Glu) c.14694C>G (p.Asp4898Glu) c.14523C>G (p.Asp4841Glu) c.14133C>G (p.Asp4711Glu) c.9324C>G (p.Asp3108Glu) c.8499C>G (p.Asp2833Glu) c.8265C>G (p.Asp2755Glu) c.8187C>G (p.Asp2729Glu) c.14076C>G (p.Asp4692Glu) | |
| 6 | g.56555751G>T | CA364519798 | DST | c.7839C>A (p.Asp2613Glu) c.8373C>A (p.Asp2791Glu) c.7959C>A (p.Asp2653Glu) n.701C>A c.14730C>A (p.Asp4910Glu) c.6861C>A (p.Asp2287Glu) c.14097C>A (p.Asp4699Glu) n.439C>A c.14631C>A (p.Asp4877Glu) c.14445C>A (p.Asp4815Glu) c.14316C>A (p.Asp4772Glu) c.14217C>A (p.Asp4739Glu) c.14196C>A (p.Asp4732Glu) c.14175C>A (p.Asp4725Glu) c.13119C>A (p.Asp4373Glu) c.14658C>A (p.Asp4886Glu) c.8400C>A (p.Asp2800Glu) c.14757C>A (p.Asp4919Glu) c.14694C>A (p.Asp4898Glu) c.14523C>A (p.Asp4841Glu) c.14133C>A (p.Asp4711Glu) c.9324C>A (p.Asp3108Glu) c.8499C>A (p.Asp2833Glu) c.8265C>A (p.Asp2755Glu) c.8187C>A (p.Asp2729Glu) c.14076C>A (p.Asp4692Glu) | |
| 6 | g.56555752T>A | CA364519799 | DST | c.7838A>T (p.Asp2613Val) c.8372A>T (p.Asp2791Val) c.7958A>T (p.Asp2653Val) n.700A>T c.14729A>T (p.Asp4910Val) c.6860A>T (p.Asp2287Val) c.14096A>T (p.Asp4699Val) n.438A>T c.14630A>T (p.Asp4877Val) c.14444A>T (p.Asp4815Val) c.14315A>T (p.Asp4772Val) c.14216A>T (p.Asp4739Val) c.14195A>T (p.Asp4732Val) c.14174A>T (p.Asp4725Val) c.13118A>T (p.Asp4373Val) c.14657A>T (p.Asp4886Val) c.8399A>T (p.Asp2800Val) c.14756A>T (p.Asp4919Val) c.14693A>T (p.Asp4898Val) c.14522A>T (p.Asp4841Val) c.14132A>T (p.Asp4711Val) c.9323A>T (p.Asp3108Val) c.8498A>T (p.Asp2833Val) c.8264A>T (p.Asp2755Val) c.8186A>T (p.Asp2729Val) c.14075A>T (p.Asp4692Val) | |
| 6 | g.56555752T>C | CA364519800 | DST | c.7838A>G (p.Asp2613Gly) c.8372A>G (p.Asp2791Gly) c.7958A>G (p.Asp2653Gly) n.700A>G c.14729A>G (p.Asp4910Gly) c.6860A>G (p.Asp2287Gly) c.14096A>G (p.Asp4699Gly) n.438A>G c.14630A>G (p.Asp4877Gly) c.14444A>G (p.Asp4815Gly) c.14315A>G (p.Asp4772Gly) c.14216A>G (p.Asp4739Gly) c.14195A>G (p.Asp4732Gly) c.14174A>G (p.Asp4725Gly) c.13118A>G (p.Asp4373Gly) c.14657A>G (p.Asp4886Gly) c.8399A>G (p.Asp2800Gly) c.14756A>G (p.Asp4919Gly) c.14693A>G (p.Asp4898Gly) c.14522A>G (p.Asp4841Gly) c.14132A>G (p.Asp4711Gly) c.9323A>G (p.Asp3108Gly) c.8498A>G (p.Asp2833Gly) c.8264A>G (p.Asp2755Gly) c.8186A>G (p.Asp2729Gly) c.14075A>G (p.Asp4692Gly) | |
| 6 | g.56555752T>G | CA364519801 | DST | c.7838A>C (p.Asp2613Ala) c.8372A>C (p.Asp2791Ala) c.7958A>C (p.Asp2653Ala) n.700A>C c.14729A>C (p.Asp4910Ala) c.6860A>C (p.Asp2287Ala) c.14096A>C (p.Asp4699Ala) n.438A>C c.14630A>C (p.Asp4877Ala) c.14444A>C (p.Asp4815Ala) c.14315A>C (p.Asp4772Ala) c.14216A>C (p.Asp4739Ala) c.14195A>C (p.Asp4732Ala) c.14174A>C (p.Asp4725Ala) c.13118A>C (p.Asp4373Ala) c.14657A>C (p.Asp4886Ala) c.8399A>C (p.Asp2800Ala) c.14756A>C (p.Asp4919Ala) c.14693A>C (p.Asp4898Ala) c.14522A>C (p.Asp4841Ala) c.14132A>C (p.Asp4711Ala) c.9323A>C (p.Asp3108Ala) c.8498A>C (p.Asp2833Ala) c.8264A>C (p.Asp2755Ala) c.8186A>C (p.Asp2729Ala) c.14075A>C (p.Asp4692Ala) | |
| 6 | g.56555753C>A | CA364519802 | DST | c.7837G>T (p.Asp2613Tyr) c.8371G>T (p.Asp2791Tyr) c.7957G>T (p.Asp2653Tyr) n.699G>T c.14728G>T (p.Asp4910Tyr) c.6859G>T (p.Asp2287Tyr) c.14095G>T (p.Asp4699Tyr) n.437G>T c.14629G>T (p.Asp4877Tyr) c.14443G>T (p.Asp4815Tyr) c.14314G>T (p.Asp4772Tyr) c.14215G>T (p.Asp4739Tyr) c.14194G>T (p.Asp4732Tyr) c.14173G>T (p.Asp4725Tyr) c.13117G>T (p.Asp4373Tyr) c.14656G>T (p.Asp4886Tyr) c.8398G>T (p.Asp2800Tyr) c.14755G>T (p.Asp4919Tyr) c.14692G>T (p.Asp4898Tyr) c.14521G>T (p.Asp4841Tyr) c.14131G>T (p.Asp4711Tyr) c.9322G>T (p.Asp3108Tyr) c.8497G>T (p.Asp2833Tyr) c.8263G>T (p.Asp2755Tyr) c.8185G>T (p.Asp2729Tyr) c.14074G>T (p.Asp4692Tyr) | |
| 6 | g.56555753C>G | CA364519803 | DST | c.7837G>C (p.Asp2613His) c.8371G>C (p.Asp2791His) c.7957G>C (p.Asp2653His) n.699G>C c.14728G>C (p.Asp4910His) c.6859G>C (p.Asp2287His) c.14095G>C (p.Asp4699His) n.437G>C c.14629G>C (p.Asp4877His) c.14443G>C (p.Asp4815His) c.14314G>C (p.Asp4772His) c.14215G>C (p.Asp4739His) c.14194G>C (p.Asp4732His) c.14173G>C (p.Asp4725His) c.13117G>C (p.Asp4373His) c.14656G>C (p.Asp4886His) c.8398G>C (p.Asp2800His) c.14755G>C (p.Asp4919His) c.14692G>C (p.Asp4898His) c.14521G>C (p.Asp4841His) c.14131G>C (p.Asp4711His) c.9322G>C (p.Asp3108His) c.8497G>C (p.Asp2833His) c.8263G>C (p.Asp2755His) c.8185G>C (p.Asp2729His) c.14074G>C (p.Asp4692His) | |
| 6 | g.56555753C>T | CA364519804 | DST | c.7837G>A (p.Asp2613Asn) c.8371G>A (p.Asp2791Asn) c.7957G>A (p.Asp2653Asn) n.699G>A c.14728G>A (p.Asp4910Asn) c.6859G>A (p.Asp2287Asn) c.14095G>A (p.Asp4699Asn) n.437G>A c.14629G>A (p.Asp4877Asn) c.14443G>A (p.Asp4815Asn) c.14314G>A (p.Asp4772Asn) c.14215G>A (p.Asp4739Asn) c.14194G>A (p.Asp4732Asn) c.14173G>A (p.Asp4725Asn) c.13117G>A (p.Asp4373Asn) c.14656G>A (p.Asp4886Asn) c.8398G>A (p.Asp2800Asn) c.14755G>A (p.Asp4919Asn) c.14692G>A (p.Asp4898Asn) c.14521G>A (p.Asp4841Asn) c.14131G>A (p.Asp4711Asn) c.9322G>A (p.Asp3108Asn) c.8497G>A (p.Asp2833Asn) c.8263G>A (p.Asp2755Asn) c.8185G>A (p.Asp2729Asn) c.14074G>A (p.Asp4692Asn) | |
| 6 | g.56555754T>A | CA364519805 | DST | c.7836A>T (p.Glu2612Asp) c.8370A>T (p.Glu2790Asp) c.7956A>T (p.Glu2652Asp) n.698A>T c.14727A>T (p.Glu4909Asp) c.6858A>T (p.Glu2286Asp) c.14094A>T (p.Glu4698Asp) n.436A>T c.14628A>T (p.Glu4876Asp) c.14442A>T (p.Glu4814Asp) c.14313A>T (p.Glu4771Asp) c.14214A>T (p.Glu4738Asp) c.14193A>T (p.Glu4731Asp) c.14172A>T (p.Glu4724Asp) c.13116A>T (p.Glu4372Asp) c.14655A>T (p.Glu4885Asp) c.8397A>T (p.Glu2799Asp) c.14754A>T (p.Glu4918Asp) c.14691A>T (p.Glu4897Asp) c.14520A>T (p.Glu4840Asp) c.14130A>T (p.Glu4710Asp) c.9321A>T (p.Glu3107Asp) c.8496A>T (p.Glu2832Asp) c.8262A>T (p.Glu2754Asp) c.8184A>T (p.Glu2728Asp) c.14073A>T (p.Glu4691Asp) | |
| 6 | g.56555754T>C | CA450620054 | DST | c.7836A>G (p.Glu2612=) c.8370A>G (p.Glu2790=) c.7956A>G (p.Glu2652=) n.698A>G c.14727A>G (p.Glu4909=) c.6858A>G (p.Glu2286=) c.14094A>G (p.Glu4698=) n.436A>G c.14628A>G (p.Glu4876=) c.14442A>G (p.Glu4814=) c.14313A>G (p.Glu4771=) c.14214A>G (p.Glu4738=) c.14193A>G (p.Glu4731=) c.14172A>G (p.Glu4724=) c.13116A>G (p.Glu4372=) c.14655A>G (p.Glu4885=) c.8397A>G (p.Glu2799=) c.14754A>G (p.Glu4918=) c.14691A>G (p.Glu4897=) c.14520A>G (p.Glu4840=) c.14130A>G (p.Glu4710=) c.9321A>G (p.Glu3107=) c.8496A>G (p.Glu2832=) c.8262A>G (p.Glu2754=) c.8184A>G (p.Glu2728=) c.14073A>G (p.Glu4691=) | gnomAD v4 |
| 6 | g.56555754T>G | CA364519806 | DST | c.7836A>C (p.Glu2612Asp) c.8370A>C (p.Glu2790Asp) c.7956A>C (p.Glu2652Asp) n.698A>C c.14727A>C (p.Glu4909Asp) c.6858A>C (p.Glu2286Asp) c.14094A>C (p.Glu4698Asp) n.436A>C c.14628A>C (p.Glu4876Asp) c.14442A>C (p.Glu4814Asp) c.14313A>C (p.Glu4771Asp) c.14214A>C (p.Glu4738Asp) c.14193A>C (p.Glu4731Asp) c.14172A>C (p.Glu4724Asp) c.13116A>C (p.Glu4372Asp) c.14655A>C (p.Glu4885Asp) c.8397A>C (p.Glu2799Asp) c.14754A>C (p.Glu4918Asp) c.14691A>C (p.Glu4897Asp) c.14520A>C (p.Glu4840Asp) c.14130A>C (p.Glu4710Asp) c.9321A>C (p.Glu3107Asp) c.8496A>C (p.Glu2832Asp) c.8262A>C (p.Glu2754Asp) c.8184A>C (p.Glu2728Asp) c.14073A>C (p.Glu4691Asp) |