Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.153636279T>CCA3110569TMEM131Lc.4558-22T>C (n.4558-22T>C)
c.3889-22T>C (n.3889-22T>C)
c.4555-22T>C (n.4555-22T>C)
c.2680-22T>C (n.2680-22T>C)
c.4645-22T>C (n.4645-22T>C)
c.4642-22T>C (n.4642-22T>C)
c.4615-22T>C (n.4615-22T>C)
c.4393-22T>C (n.4393-22T>C)
c.4552-22T>C (n.4552-22T>C)
c.4612-22T>C (n.4612-22T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.153636279T=CA1504512121TMEM131Lc.4558-22T= (n.4558-22T=)
c.3889-22T= (n.3889-22T=)
c.4555-22T= (n.4555-22T=)
c.2680-22T= (n.2680-22T=)
c.4645-22T= (n.4645-22T=)
c.4642-22T= (n.4642-22T=)
c.4615-22T= (n.4615-22T=)
c.4393-22T= (n.4393-22T=)
c.4552-22T= (n.4552-22T=)
c.4612-22T= (n.4612-22T=)
4g.153636280C>ACA2672415812TMEM131Lc.4558-21C>A (n.4558-21C>A)
c.3889-21C>A (n.3889-21C>A)
c.4555-21C>A (n.4555-21C>A)
c.2680-21C>A (n.2680-21C>A)
c.4645-21C>A (n.4645-21C>A)
c.4642-21C>A (n.4642-21C>A)
c.4615-21C>A (n.4615-21C>A)
c.4393-21C>A (n.4393-21C>A)
c.4552-21C>A (n.4552-21C>A)
c.4612-21C>A (n.4612-21C>A)
 gnomAD v4
4g.153636280C=CA1504512122TMEM131Lc.4558-21C= (n.4558-21C=)
c.3889-21C= (n.3889-21C=)
c.4555-21C= (n.4555-21C=)
c.2680-21C= (n.2680-21C=)
c.4645-21C= (n.4645-21C=)
c.4642-21C= (n.4642-21C=)
c.4615-21C= (n.4615-21C=)
c.4393-21C= (n.4393-21C=)
c.4552-21C= (n.4552-21C=)
c.4612-21C= (n.4612-21C=)
4g.153636280C>TCA555971117TMEM131Lc.4558-21C>T (n.4558-21C>T)
c.3889-21C>T (n.3889-21C>T)
c.4555-21C>T (n.4555-21C>T)
c.2680-21C>T (n.2680-21C>T)
c.4645-21C>T (n.4645-21C>T)
c.4642-21C>T (n.4642-21C>T)
c.4615-21C>T (n.4615-21C>T)
c.4393-21C>T (n.4393-21C>T)
c.4552-21C>T (n.4552-21C>T)
c.4612-21C>T (n.4612-21C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.153636281C>ACA2672415813TMEM131Lc.4558-20C>A (n.4558-20C>A)
c.3889-20C>A (n.3889-20C>A)
c.4555-20C>A (n.4555-20C>A)
c.2680-20C>A (n.2680-20C>A)
c.4645-20C>A (n.4645-20C>A)
c.4642-20C>A (n.4642-20C>A)
c.4615-20C>A (n.4615-20C>A)
c.4393-20C>A (n.4393-20C>A)
c.4552-20C>A (n.4552-20C>A)
c.4612-20C>A (n.4612-20C>A)
 gnomAD v4
4g.153636281C=CA1504512123TMEM131Lc.4558-20C= (n.4558-20C=)
c.3889-20C= (n.3889-20C=)
c.4555-20C= (n.4555-20C=)
c.2680-20C= (n.2680-20C=)
c.4645-20C= (n.4645-20C=)
c.4642-20C= (n.4642-20C=)
c.4615-20C= (n.4615-20C=)
c.4393-20C= (n.4393-20C=)
c.4552-20C= (n.4552-20C=)
c.4612-20C= (n.4612-20C=)
4g.153636281C>TCA3110570TMEM131Lc.4558-20C>T (n.4558-20C>T)
c.3889-20C>T (n.3889-20C>T)
c.4555-20C>T (n.4555-20C>T)
c.2680-20C>T (n.2680-20C>T)
c.4645-20C>T (n.4645-20C>T)
c.4642-20C>T (n.4642-20C>T)
c.4615-20C>T (n.4615-20C>T)
c.4393-20C>T (n.4393-20C>T)
c.4552-20C>T (n.4552-20C>T)
c.4612-20C>T (n.4612-20C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.153636282T>CCA2672415814TMEM131Lc.4558-19T>C (n.4558-19T>C)
c.3889-19T>C (n.3889-19T>C)
c.4555-19T>C (n.4555-19T>C)
c.2680-19T>C (n.2680-19T>C)
c.4645-19T>C (n.4645-19T>C)
c.4642-19T>C (n.4642-19T>C)
c.4615-19T>C (n.4615-19T>C)
c.4393-19T>C (n.4393-19T>C)
c.4552-19T>C (n.4552-19T>C)
c.4612-19T>C (n.4612-19T>C)
 gnomAD v4
4g.153636284C=CA1504512124TMEM131Lc.4558-17C= (n.4558-17C=)
c.3889-17C= (n.3889-17C=)
c.4555-17C= (n.4555-17C=)
c.2680-17C= (n.2680-17C=)
c.4645-17C= (n.4645-17C=)
c.4642-17C= (n.4642-17C=)
c.4615-17C= (n.4615-17C=)
c.4393-17C= (n.4393-17C=)
c.4552-17C= (n.4552-17C=)
c.4612-17C= (n.4612-17C=)
4g.153636284C>TCA3110571TMEM131Lc.4558-17C>T (n.4558-17C>T)
c.3889-17C>T (n.3889-17C>T)
c.4555-17C>T (n.4555-17C>T)
c.2680-17C>T (n.2680-17C>T)
c.4645-17C>T (n.4645-17C>T)
c.4642-17C>T (n.4642-17C>T)
c.4615-17C>T (n.4615-17C>T)
c.4393-17C>T (n.4393-17C>T)
c.4552-17C>T (n.4552-17C>T)
c.4612-17C>T (n.4612-17C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.153636284_153636287delCA2672415815TMEM131Lc.4558-17_4558-14del (n.4558-17_4558-14del)
c.3889-17_3889-14del (n.3889-17_3889-14del)
c.4555-17_4555-14del (n.4555-17_4555-14del)
c.2680-17_2680-14del (n.2680-17_2680-14del)
c.4645-17_4645-14del (n.4645-17_4645-14del)
c.4642-17_4642-14del (n.4642-17_4642-14del)
c.4615-17_4615-14del (n.4615-17_4615-14del)
c.4393-17_4393-14del (n.4393-17_4393-14del)
c.4552-17_4552-14del (n.4552-17_4552-14del)
c.4612-17_4612-14del (n.4612-17_4612-14del)
 gnomAD v4
4g.153636285C>ACA2672415816TMEM131Lc.4558-16C>A (n.4558-16C>A)
c.3889-16C>A (n.3889-16C>A)
c.4555-16C>A (n.4555-16C>A)
c.2680-16C>A (n.2680-16C>A)
c.4645-16C>A (n.4645-16C>A)
c.4642-16C>A (n.4642-16C>A)
c.4615-16C>A (n.4615-16C>A)
c.4393-16C>A (n.4393-16C>A)
c.4552-16C>A (n.4552-16C>A)
c.4612-16C>A (n.4612-16C>A)
 gnomAD v4
4g.153636285C=CA1504512125TMEM131Lc.4558-16C= (n.4558-16C=)
c.3889-16C= (n.3889-16C=)
c.4555-16C= (n.4555-16C=)
c.2680-16C= (n.2680-16C=)
c.4645-16C= (n.4645-16C=)
c.4642-16C= (n.4642-16C=)
c.4615-16C= (n.4615-16C=)
c.4393-16C= (n.4393-16C=)
c.4552-16C= (n.4552-16C=)
c.4612-16C= (n.4612-16C=)
4g.153636285C>TCA1069678789TMEM131Lc.4558-16C>T (n.4558-16C>T)
c.3889-16C>T (n.3889-16C>T)
c.4555-16C>T (n.4555-16C>T)
c.2680-16C>T (n.2680-16C>T)
c.4645-16C>T (n.4645-16C>T)
c.4642-16C>T (n.4642-16C>T)
c.4615-16C>T (n.4615-16C>T)
c.4393-16C>T (n.4393-16C>T)
c.4552-16C>T (n.4552-16C>T)
c.4612-16C>T (n.4612-16C>T)
 dbSNP gnomAD v3 gnomAD v4
4g.153636287C>ACA2672415817TMEM131Lc.4558-14C>A (n.4558-14C>A)
c.3889-14C>A (n.3889-14C>A)
c.4555-14C>A (n.4555-14C>A)
c.2680-14C>A (n.2680-14C>A)
c.4645-14C>A (n.4645-14C>A)
c.4642-14C>A (n.4642-14C>A)
c.4615-14C>A (n.4615-14C>A)
c.4393-14C>A (n.4393-14C>A)
c.4552-14C>A (n.4552-14C>A)
c.4612-14C>A (n.4612-14C>A)
 gnomAD v4
4g.153636287C=CA1504512126TMEM131Lc.4558-14C= (n.4558-14C=)
c.3889-14C= (n.3889-14C=)
c.4555-14C= (n.4555-14C=)
c.2680-14C= (n.2680-14C=)
c.4645-14C= (n.4645-14C=)
c.4642-14C= (n.4642-14C=)
c.4615-14C= (n.4615-14C=)
c.4393-14C= (n.4393-14C=)
c.4552-14C= (n.4552-14C=)
c.4612-14C= (n.4612-14C=)
4g.153636287C>TCA789324503TMEM131Lc.4558-14C>T (n.4558-14C>T)
c.3889-14C>T (n.3889-14C>T)
c.4555-14C>T (n.4555-14C>T)
c.2680-14C>T (n.2680-14C>T)
c.4645-14C>T (n.4645-14C>T)
c.4642-14C>T (n.4642-14C>T)
c.4615-14C>T (n.4615-14C>T)
c.4393-14C>T (n.4393-14C>T)
c.4552-14C>T (n.4552-14C>T)
c.4612-14C>T (n.4612-14C>T)
 dbSNP gnomAD v3 gnomAD v4
4g.153636287_153636291delinsCATTTCA1504512127TMEM131Lc.4558-14_4558-10delinsCATTT (n.4558-14_4558-10delinsCATTT)
c.3889-14_3889-10delinsCATTT (n.3889-14_3889-10delinsCATTT)
c.4555-14_4555-10delinsCATTT (n.4555-14_4555-10delinsCATTT)
c.2680-14_2680-10delinsCATTT (n.2680-14_2680-10delinsCATTT)
c.4645-14_4645-10delinsCATTT (n.4645-14_4645-10delinsCATTT)
c.4642-14_4642-10delinsCATTT (n.4642-14_4642-10delinsCATTT)
c.4615-14_4615-10delinsCATTT (n.4615-14_4615-10delinsCATTT)
c.4393-14_4393-10delinsCATTT (n.4393-14_4393-10delinsCATTT)
c.4552-14_4552-10delinsCATTT (n.4552-14_4552-10delinsCATTT)
c.4612-14_4612-10delinsCATTT (n.4612-14_4612-10delinsCATTT)
4g.153636288A>CCA2672415818TMEM131Lc.4558-13A>C (n.4558-13A>C)
c.3889-13A>C (n.3889-13A>C)
c.4555-13A>C (n.4555-13A>C)
c.2680-13A>C (n.2680-13A>C)
c.4645-13A>C (n.4645-13A>C)
c.4642-13A>C (n.4642-13A>C)
c.4615-13A>C (n.4615-13A>C)
c.4393-13A>C (n.4393-13A>C)
c.4552-13A>C (n.4552-13A>C)
c.4612-13A>C (n.4612-13A>C)
 gnomAD v4
4g.153636288A>GCA2672415819TMEM131Lc.4558-13A>G (n.4558-13A>G)
c.3889-13A>G (n.3889-13A>G)
c.4555-13A>G (n.4555-13A>G)
c.2680-13A>G (n.2680-13A>G)
c.4645-13A>G (n.4645-13A>G)
c.4642-13A>G (n.4642-13A>G)
c.4615-13A>G (n.4615-13A>G)
c.4393-13A>G (n.4393-13A>G)
c.4552-13A>G (n.4552-13A>G)
c.4612-13A>G (n.4612-13A>G)
 gnomAD v4
4g.153636288A>TCA1069678791TMEM131Lc.4558-13A>T (n.4558-13A>T)
c.3889-13A>T (n.3889-13A>T)
c.4555-13A>T (n.4555-13A>T)
c.2680-13A>T (n.2680-13A>T)
c.4645-13A>T (n.4645-13A>T)
c.4642-13A>T (n.4642-13A>T)
c.4615-13A>T (n.4615-13A>T)
c.4393-13A>T (n.4393-13A>T)
c.4552-13A>T (n.4552-13A>T)
c.4612-13A>T (n.4612-13A>T)
 gnomAD v3 gnomAD v4
4g.153636290_153636293delCA1504512128TMEM131Lc.4558-11_4558-8del (n.4558-11_4558-8del)
c.3889-11_3889-8del (n.3889-11_3889-8del)
c.4555-11_4555-8del (n.4555-11_4555-8del)
c.2680-11_2680-8del (n.2680-11_2680-8del)
c.4645-11_4645-8del (n.4645-11_4645-8del)
c.4642-11_4642-8del (n.4642-11_4642-8del)
c.4615-11_4615-8del (n.4615-11_4615-8del)
c.4393-11_4393-8del (n.4393-11_4393-8del)
c.4552-11_4552-8del (n.4552-11_4552-8del)
c.4612-11_4612-8del (n.4612-11_4612-8del)
 dbSNP
4g.153636292A=CA1504512129TMEM131Lc.4558-9A= (n.4558-9A=)
c.3889-9A= (n.3889-9A=)
c.4555-9A= (n.4555-9A=)
c.2680-9A= (n.2680-9A=)
c.4645-9A= (n.4645-9A=)
c.4642-9A= (n.4642-9A=)
c.4615-9A= (n.4615-9A=)
c.4393-9A= (n.4393-9A=)
c.4552-9A= (n.4552-9A=)
c.4612-9A= (n.4612-9A=)
4g.153636292A>GCA2578215975TMEM131Lc.4558-9A>G (n.4558-9A>G)
c.3889-9A>G (n.3889-9A>G)
c.4555-9A>G (n.4555-9A>G)
c.2680-9A>G (n.2680-9A>G)
c.4645-9A>G (n.4645-9A>G)
c.4642-9A>G (n.4642-9A>G)
c.4615-9A>G (n.4615-9A>G)
c.4393-9A>G (n.4393-9A>G)
c.4552-9A>G (n.4552-9A>G)
c.4612-9A>G (n.4612-9A>G)
 gnomAD v4
4g.153636292A>TCA3110572TMEM131Lc.4558-9A>T (n.4558-9A>T)
c.3889-9A>T (n.3889-9A>T)
c.4555-9A>T (n.4555-9A>T)
c.2680-9A>T (n.2680-9A>T)
c.4645-9A>T (n.4645-9A>T)
c.4642-9A>T (n.4642-9A>T)
c.4615-9A>T (n.4615-9A>T)
c.4393-9A>T (n.4393-9A>T)
c.4552-9A>T (n.4552-9A>T)
c.4612-9A>T (n.4612-9A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.153636293T>CCA3110573TMEM131Lc.4558-8T>C (n.4558-8T>C)
c.3889-8T>C (n.3889-8T>C)
c.4555-8T>C (n.4555-8T>C)
c.2680-8T>C (n.2680-8T>C)
c.4645-8T>C (n.4645-8T>C)
c.4642-8T>C (n.4642-8T>C)
c.4615-8T>C (n.4615-8T>C)
c.4393-8T>C (n.4393-8T>C)
c.4552-8T>C (n.4552-8T>C)
c.4612-8T>C (n.4612-8T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.153636293T=CA1504512130TMEM131Lc.4558-8T= (n.4558-8T=)
c.3889-8T= (n.3889-8T=)
c.4555-8T= (n.4555-8T=)
c.2680-8T= (n.2680-8T=)
c.4645-8T= (n.4645-8T=)
c.4642-8T= (n.4642-8T=)
c.4615-8T= (n.4615-8T=)
c.4393-8T= (n.4393-8T=)
c.4552-8T= (n.4552-8T=)
c.4612-8T= (n.4612-8T=)
4g.153636295C>TCA2672415820TMEM131Lc.4558-6C>T (n.4558-6C>T)
c.3889-6C>T (n.3889-6C>T)
c.4555-6C>T (n.4555-6C>T)
c.2680-6C>T (n.2680-6C>T)
c.4645-6C>T (n.4645-6C>T)
c.4642-6C>T (n.4642-6C>T)
c.4615-6C>T (n.4615-6C>T)
c.4393-6C>T (n.4393-6C>T)
c.4552-6C>T (n.4552-6C>T)
c.4612-6C>T (n.4612-6C>T)
 gnomAD v4
4g.153636297T>CCA1504512132TMEM131Lc.4558-4T>C (n.4558-4T>C)
c.3889-4T>C (n.3889-4T>C)
c.4555-4T>C (n.4555-4T>C)
c.2680-4T>C (n.2680-4T>C)
c.4645-4T>C (n.4645-4T>C)
c.4642-4T>C (n.4642-4T>C)
c.4615-4T>C (n.4615-4T>C)
c.4393-4T>C (n.4393-4T>C)
c.4552-4T>C (n.4552-4T>C)
c.4612-4T>C (n.4612-4T>C)
 dbSNP
4g.153636297T=CA1504512131TMEM131Lc.4558-4T= (n.4558-4T=)
c.3889-4T= (n.3889-4T=)
c.4555-4T= (n.4555-4T=)
c.2680-4T= (n.2680-4T=)
c.4645-4T= (n.4645-4T=)
c.4642-4T= (n.4642-4T=)
c.4615-4T= (n.4615-4T=)
c.4393-4T= (n.4393-4T=)
c.4552-4T= (n.4552-4T=)
c.4612-4T= (n.4612-4T=)
4g.153636299A>CCA358505831TMEM131Lc.4558-2A>C (n.4558-2A>C)
c.3889-2A>C (n.3889-2A>C)
c.4555-2A>C (n.4555-2A>C)
c.2680-2A>C (n.2680-2A>C)
c.4645-2A>C (n.4645-2A>C)
c.4642-2A>C (n.4642-2A>C)
c.4615-2A>C (n.4615-2A>C)
c.4393-2A>C (n.4393-2A>C)
c.4552-2A>C (n.4552-2A>C)
c.4612-2A>C (n.4612-2A>C)
4g.153636299A>GCA358505832TMEM131Lc.4558-2A>G (n.4558-2A>G)
c.3889-2A>G (n.3889-2A>G)
c.4555-2A>G (n.4555-2A>G)
c.2680-2A>G (n.2680-2A>G)
c.4645-2A>G (n.4645-2A>G)
c.4642-2A>G (n.4642-2A>G)
c.4615-2A>G (n.4615-2A>G)
c.4393-2A>G (n.4393-2A>G)
c.4552-2A>G (n.4552-2A>G)
c.4612-2A>G (n.4612-2A>G)
4g.153636299A>TCA358505834TMEM131Lc.4558-2A>T (n.4558-2A>T)
c.3889-2A>T (n.3889-2A>T)
c.4555-2A>T (n.4555-2A>T)
c.2680-2A>T (n.2680-2A>T)
c.4645-2A>T (n.4645-2A>T)
c.4642-2A>T (n.4642-2A>T)
c.4615-2A>T (n.4615-2A>T)
c.4393-2A>T (n.4393-2A>T)
c.4552-2A>T (n.4552-2A>T)
c.4612-2A>T (n.4612-2A>T)
4g.153636300G>ACA358505836TMEM131Lc.4558-1G>A (n.4558-1G>A)
c.3889-1G>A (n.3889-1G>A)
c.4555-1G>A (n.4555-1G>A)
c.2680-1G>A (n.2680-1G>A)
c.4645-1G>A (n.4645-1G>A)
c.4642-1G>A (n.4642-1G>A)
c.4615-1G>A (n.4615-1G>A)
c.4393-1G>A (n.4393-1G>A)
c.4552-1G>A (n.4552-1G>A)
c.4612-1G>A (n.4612-1G>A)
4g.153636300G>CCA358505837TMEM131Lc.4558-1G>C (n.4558-1G>C)
c.3889-1G>C (n.3889-1G>C)
c.4555-1G>C (n.4555-1G>C)
c.2680-1G>C (n.2680-1G>C)
c.4645-1G>C (n.4645-1G>C)
c.4642-1G>C (n.4642-1G>C)
c.4615-1G>C (n.4615-1G>C)
c.4393-1G>C (n.4393-1G>C)
c.4552-1G>C (n.4552-1G>C)
c.4612-1G>C (n.4612-1G>C)
4g.153636300G>TCA358505838TMEM131Lc.4558-1G>T (n.4558-1G>T)
c.3889-1G>T (n.3889-1G>T)
c.4555-1G>T (n.4555-1G>T)
c.2680-1G>T (n.2680-1G>T)
c.4645-1G>T (n.4645-1G>T)
c.4642-1G>T (n.4642-1G>T)
c.4615-1G>T (n.4615-1G>T)
c.4393-1G>T (n.4393-1G>T)
c.4552-1G>T (n.4552-1G>T)
c.4612-1G>T (n.4612-1G>T)
4g.153636301C>ACA358505841TMEM131Lc.4558C>A (p.Pro1520Thr)
c.3889C>A (p.Pro1297Thr)
c.4555C>A (p.Pro1519Thr)
c.2680C>A (p.Pro894Thr)
c.4645C>A (p.Pro1549Thr)
c.4642C>A (p.Pro1548Thr)
c.4615C>A (p.Pro1539Thr)
c.4393C>A (p.Pro1465Thr)
c.4552C>A (p.Pro1518Thr)
c.4612C>A (p.Pro1538Thr)
4g.153636301C>GCA358505844TMEM131Lc.4558C>G (p.Pro1520Ala)
c.3889C>G (p.Pro1297Ala)
c.4555C>G (p.Pro1519Ala)
c.2680C>G (p.Pro894Ala)
c.4645C>G (p.Pro1549Ala)
c.4642C>G (p.Pro1548Ala)
c.4615C>G (p.Pro1539Ala)
c.4393C>G (p.Pro1465Ala)
c.4552C>G (p.Pro1518Ala)
c.4612C>G (p.Pro1538Ala)
 gnomAD v4
4g.153636301C>TCA358505842TMEM131Lc.4558C>T (p.Pro1520Ser)
c.3889C>T (p.Pro1297Ser)
c.4555C>T (p.Pro1519Ser)
c.2680C>T (p.Pro894Ser)
c.4645C>T (p.Pro1549Ser)
c.4642C>T (p.Pro1548Ser)
c.4615C>T (p.Pro1539Ser)
c.4393C>T (p.Pro1465Ser)
c.4552C>T (p.Pro1518Ser)
c.4612C>T (p.Pro1538Ser)
4g.153636302C>ACA358505847TMEM131Lc.4559C>A (p.Pro1520His)
c.3890C>A (p.Pro1297His)
c.4556C>A (p.Pro1519His)
c.2681C>A (p.Pro894His)
c.4646C>A (p.Pro1549His)
c.4643C>A (p.Pro1548His)
c.4616C>A (p.Pro1539His)
c.4394C>A (p.Pro1465His)
c.4553C>A (p.Pro1518His)
c.4613C>A (p.Pro1538His)
4g.153636302C=CA1504512133TMEM131Lc.4559C= (p.Pro1520=)
c.3890C= (p.Pro1297=)
c.4556C= (p.Pro1519=)
c.2681C= (p.Pro894=)
c.4646C= (p.Pro1549=)
c.4643C= (p.Pro1548=)
c.4616C= (p.Pro1539=)
c.4394C= (p.Pro1465=)
c.4553C= (p.Pro1518=)
c.4613C= (p.Pro1538=)
4g.153636302C>GCA358505848TMEM131Lc.4559C>G (p.Pro1520Arg)
c.3890C>G (p.Pro1297Arg)
c.4556C>G (p.Pro1519Arg)
c.2681C>G (p.Pro894Arg)
c.4646C>G (p.Pro1549Arg)
c.4643C>G (p.Pro1548Arg)
c.4616C>G (p.Pro1539Arg)
c.4394C>G (p.Pro1465Arg)
c.4553C>G (p.Pro1518Arg)
c.4613C>G (p.Pro1538Arg)
4g.153636302C>TCA107951312TMEM131Lc.4559C>T (p.Pro1520Leu)
c.3890C>T (p.Pro1297Leu)
c.4556C>T (p.Pro1519Leu)
c.2681C>T (p.Pro894Leu)
c.4646C>T (p.Pro1549Leu)
c.4643C>T (p.Pro1548Leu)
c.4616C>T (p.Pro1539Leu)
c.4394C>T (p.Pro1465Leu)
c.4553C>T (p.Pro1518Leu)
c.4613C>T (p.Pro1538Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.153636303C>ACA441799759TMEM131Lc.4560C>A (p.Pro1520=)
c.3891C>A (p.Pro1297=)
c.4557C>A (p.Pro1519=)
c.2682C>A (p.Pro894=)
c.4647C>A (p.Pro1549=)
c.4644C>A (p.Pro1548=)
c.4617C>A (p.Pro1539=)
c.4395C>A (p.Pro1465=)
c.4554C>A (p.Pro1518=)
c.4614C>A (p.Pro1538=)
4g.153636303C=CA1504512134TMEM131Lc.4560C= (p.Pro1520=)
c.3891C= (p.Pro1297=)
c.4557C= (p.Pro1519=)
c.2682C= (p.Pro894=)
c.4647C= (p.Pro1549=)
c.4644C= (p.Pro1548=)
c.4617C= (p.Pro1539=)
c.4395C= (p.Pro1465=)
c.4554C= (p.Pro1518=)
c.4614C= (p.Pro1538=)
4g.153636303C>GCA441799760TMEM131Lc.4560C>G (p.Pro1520=)
c.3891C>G (p.Pro1297=)
c.4557C>G (p.Pro1519=)
c.2682C>G (p.Pro894=)
c.4647C>G (p.Pro1549=)
c.4644C>G (p.Pro1548=)
c.4617C>G (p.Pro1539=)
c.4395C>G (p.Pro1465=)
c.4554C>G (p.Pro1518=)
c.4614C>G (p.Pro1538=)
 dbSNP gnomAD v4
4g.153636303C>TCA441799761TMEM131Lc.4560C>T (p.Pro1520=)
c.3891C>T (p.Pro1297=)
c.4557C>T (p.Pro1519=)
c.2682C>T (p.Pro894=)
c.4647C>T (p.Pro1549=)
c.4644C>T (p.Pro1548=)
c.4617C>T (p.Pro1539=)
c.4395C>T (p.Pro1465=)
c.4554C>T (p.Pro1518=)
c.4614C>T (p.Pro1538=)
4g.153636304T>ACA358505851TMEM131Lc.4561T>A (p.Tyr1521Asn)
c.3892T>A (p.Tyr1298Asn)
c.4558T>A (p.Tyr1520Asn)
c.2683T>A (p.Tyr895Asn)
c.4648T>A (p.Tyr1550Asn)
c.4645T>A (p.Tyr1549Asn)
c.4618T>A (p.Tyr1540Asn)
c.4396T>A (p.Tyr1466Asn)
c.4555T>A (p.Tyr1519Asn)
c.4615T>A (p.Tyr1539Asn)
4g.153636304T>CCA358505853TMEM131Lc.4561T>C (p.Tyr1521His)
c.3892T>C (p.Tyr1298His)
c.4558T>C (p.Tyr1520His)
c.2683T>C (p.Tyr895His)
c.4648T>C (p.Tyr1550His)
c.4645T>C (p.Tyr1549His)
c.4618T>C (p.Tyr1540His)
c.4396T>C (p.Tyr1466His)
c.4555T>C (p.Tyr1519His)
c.4615T>C (p.Tyr1539His)
 dbSNP gnomAD v2 gnomAD v4
4g.153636304T>GCA358505855TMEM131Lc.4561T>G (p.Tyr1521Asp)
c.3892T>G (p.Tyr1298Asp)
c.4558T>G (p.Tyr1520Asp)
c.2683T>G (p.Tyr895Asp)
c.4648T>G (p.Tyr1550Asp)
c.4645T>G (p.Tyr1549Asp)
c.4618T>G (p.Tyr1540Asp)
c.4396T>G (p.Tyr1466Asp)
c.4555T>G (p.Tyr1519Asp)
c.4615T>G (p.Tyr1539Asp)
4g.153636304T=CA1504512135TMEM131Lc.4561T= (p.Tyr1521=)
c.3892T= (p.Tyr1298=)
c.4558T= (p.Tyr1520=)
c.2683T= (p.Tyr895=)
c.4648T= (p.Tyr1550=)
c.4645T= (p.Tyr1549=)
c.4618T= (p.Tyr1540=)
c.4396T= (p.Tyr1466=)
c.4555T= (p.Tyr1519=)
c.4615T= (p.Tyr1539=)
4g.153636305A=CA1504512136TMEM131Lc.4562A= (p.Tyr1521=)
c.3893A= (p.Tyr1298=)
c.4559A= (p.Tyr1520=)
c.2684A= (p.Tyr895=)
c.4649A= (p.Tyr1550=)
c.4646A= (p.Tyr1549=)
c.4619A= (p.Tyr1540=)
c.4397A= (p.Tyr1466=)
c.4556A= (p.Tyr1519=)
c.4616A= (p.Tyr1539=)
4g.153636305A>CCA358505857TMEM131Lc.4562A>C (p.Tyr1521Ser)
c.3893A>C (p.Tyr1298Ser)
c.4559A>C (p.Tyr1520Ser)
c.2684A>C (p.Tyr895Ser)
c.4649A>C (p.Tyr1550Ser)
c.4646A>C (p.Tyr1549Ser)
c.4619A>C (p.Tyr1540Ser)
c.4397A>C (p.Tyr1466Ser)
c.4556A>C (p.Tyr1519Ser)
c.4616A>C (p.Tyr1539Ser)
4g.153636305A>GCA3110574TMEM131Lc.4562A>G (p.Tyr1521Cys)
c.3893A>G (p.Tyr1298Cys)
c.4559A>G (p.Tyr1520Cys)
c.2684A>G (p.Tyr895Cys)
c.4649A>G (p.Tyr1550Cys)
c.4646A>G (p.Tyr1549Cys)
c.4619A>G (p.Tyr1540Cys)
c.4397A>G (p.Tyr1466Cys)
c.4556A>G (p.Tyr1519Cys)
c.4616A>G (p.Tyr1539Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3
4g.153636305A>TCA358505860TMEM131Lc.4562A>T (p.Tyr1521Phe)
c.3893A>T (p.Tyr1298Phe)
c.4559A>T (p.Tyr1520Phe)
c.2684A>T (p.Tyr895Phe)
c.4649A>T (p.Tyr1550Phe)
c.4646A>T (p.Tyr1549Phe)
c.4619A>T (p.Tyr1540Phe)
c.4397A>T (p.Tyr1466Phe)
c.4556A>T (p.Tyr1519Phe)
c.4616A>T (p.Tyr1539Phe)
4g.153636306C>ACA358505862TMEM131Lc.4563C>A (p.Tyr1521Ter)
c.3894C>A (p.Tyr1298Ter)
c.4560C>A (p.Tyr1520Ter)
c.2685C>A (p.Tyr895Ter)
c.4650C>A (p.Tyr1550Ter)
c.4647C>A (p.Tyr1549Ter)
c.4620C>A (p.Tyr1540Ter)
c.4398C>A (p.Tyr1466Ter)
c.4557C>A (p.Tyr1519Ter)
c.4617C>A (p.Tyr1539Ter)
4g.153636306C>GCA358505864TMEM131Lc.4563C>G (p.Tyr1521Ter)
c.3894C>G (p.Tyr1298Ter)
c.4560C>G (p.Tyr1520Ter)
c.2685C>G (p.Tyr895Ter)
c.4650C>G (p.Tyr1550Ter)
c.4647C>G (p.Tyr1549Ter)
c.4620C>G (p.Tyr1540Ter)
c.4398C>G (p.Tyr1466Ter)
c.4557C>G (p.Tyr1519Ter)
c.4617C>G (p.Tyr1539Ter)
4g.153636306C>TCA441799762TMEM131Lc.4563C>T (p.Tyr1521=)
c.3894C>T (p.Tyr1298=)
c.4560C>T (p.Tyr1520=)
c.2685C>T (p.Tyr895=)
c.4650C>T (p.Tyr1550=)
c.4647C>T (p.Tyr1549=)
c.4620C>T (p.Tyr1540=)
c.4398C>T (p.Tyr1466=)
c.4557C>T (p.Tyr1519=)
c.4617C>T (p.Tyr1539=)
4g.153636307C>ACA358505869TMEM131Lc.4564C>A (p.Leu1522Ile)
c.3895C>A (p.Leu1299Ile)
c.4561C>A (p.Leu1521Ile)
c.2686C>A (p.Leu896Ile)
c.4651C>A (p.Leu1551Ile)
c.4648C>A (p.Leu1550Ile)
c.4621C>A (p.Leu1541Ile)
c.4399C>A (p.Leu1467Ile)
c.4558C>A (p.Leu1520Ile)
c.4618C>A (p.Leu1540Ile)
4g.153636307C>GCA358505867TMEM131Lc.4564C>G (p.Leu1522Val)
c.3895C>G (p.Leu1299Val)
c.4561C>G (p.Leu1521Val)
c.2686C>G (p.Leu896Val)
c.4651C>G (p.Leu1551Val)
c.4648C>G (p.Leu1550Val)
c.4621C>G (p.Leu1541Val)
c.4399C>G (p.Leu1467Val)
c.4558C>G (p.Leu1520Val)
c.4618C>G (p.Leu1540Val)
4g.153636307C>TCA358505868TMEM131Lc.4564C>T (p.Leu1522Phe)
c.3895C>T (p.Leu1299Phe)
c.4561C>T (p.Leu1521Phe)
c.2686C>T (p.Leu896Phe)
c.4651C>T (p.Leu1551Phe)
c.4648C>T (p.Leu1550Phe)
c.4621C>T (p.Leu1541Phe)
c.4399C>T (p.Leu1467Phe)
c.4558C>T (p.Leu1520Phe)
c.4618C>T (p.Leu1540Phe)
 gnomAD v4
4g.153636308T>ACA358505871TMEM131Lc.4565T>A (p.Leu1522His)
c.3896T>A (p.Leu1299His)
c.4562T>A (p.Leu1521His)
c.2687T>A (p.Leu896His)
c.4652T>A (p.Leu1551His)
c.4649T>A (p.Leu1550His)
c.4622T>A (p.Leu1541His)
c.4400T>A (p.Leu1467His)
c.4559T>A (p.Leu1520His)
c.4619T>A (p.Leu1540His)
 gnomAD v4
4g.153636308T>CCA358505874TMEM131Lc.4565T>C (p.Leu1522Pro)
c.3896T>C (p.Leu1299Pro)
c.4562T>C (p.Leu1521Pro)
c.2687T>C (p.Leu896Pro)
c.4652T>C (p.Leu1551Pro)
c.4649T>C (p.Leu1550Pro)
c.4622T>C (p.Leu1541Pro)
c.4400T>C (p.Leu1467Pro)
c.4559T>C (p.Leu1520Pro)
c.4619T>C (p.Leu1540Pro)
4g.153636308T>GCA358505872TMEM131Lc.4565T>G (p.Leu1522Arg)
c.3896T>G (p.Leu1299Arg)
c.4562T>G (p.Leu1521Arg)
c.2687T>G (p.Leu896Arg)
c.4652T>G (p.Leu1551Arg)
c.4649T>G (p.Leu1550Arg)
c.4622T>G (p.Leu1541Arg)
c.4400T>G (p.Leu1467Arg)
c.4559T>G (p.Leu1520Arg)
c.4619T>G (p.Leu1540Arg)
4g.153636309C>ACA441799763TMEM131Lc.4566C>A (p.Leu1522=)
c.3897C>A (p.Leu1299=)
c.4563C>A (p.Leu1521=)
c.2688C>A (p.Leu896=)
c.4653C>A (p.Leu1551=)
c.4650C>A (p.Leu1550=)
c.4623C>A (p.Leu1541=)
c.4401C>A (p.Leu1467=)
c.4560C>A (p.Leu1520=)
c.4620C>A (p.Leu1540=)
4g.153636309C=CA1504512137TMEM131Lc.4566C= (p.Leu1522=)
c.3897C= (p.Leu1299=)
c.4563C= (p.Leu1521=)
c.2688C= (p.Leu896=)
c.4653C= (p.Leu1551=)
c.4650C= (p.Leu1550=)
c.4623C= (p.Leu1541=)
c.4401C= (p.Leu1467=)
c.4560C= (p.Leu1520=)
c.4620C= (p.Leu1540=)
4g.153636309C>GCA441799764TMEM131Lc.4566C>G (p.Leu1522=)
c.3897C>G (p.Leu1299=)
c.4563C>G (p.Leu1521=)
c.2688C>G (p.Leu896=)
c.4653C>G (p.Leu1551=)
c.4650C>G (p.Leu1550=)
c.4623C>G (p.Leu1541=)
c.4401C>G (p.Leu1467=)
c.4560C>G (p.Leu1520=)
c.4620C>G (p.Leu1540=)
 gnomAD v4
4g.153636309C>TCA441799765TMEM131Lc.4566C>T (p.Leu1522=)
c.3897C>T (p.Leu1299=)
c.4563C>T (p.Leu1521=)
c.2688C>T (p.Leu896=)
c.4653C>T (p.Leu1551=)
c.4650C>T (p.Leu1550=)
c.4623C>T (p.Leu1541=)
c.4401C>T (p.Leu1467=)
c.4560C>T (p.Leu1520=)
c.4620C>T (p.Leu1540=)
 dbSNP
4g.153636310A>CCA358505876TMEM131Lc.4567A>C (p.Thr1523Pro)
c.3898A>C (p.Thr1300Pro)
c.4564A>C (p.Thr1522Pro)
c.2689A>C (p.Thr897Pro)
c.4654A>C (p.Thr1552Pro)
c.4651A>C (p.Thr1551Pro)
c.4624A>C (p.Thr1542Pro)
c.4402A>C (p.Thr1468Pro)
c.4561A>C (p.Thr1521Pro)
c.4621A>C (p.Thr1541Pro)
4g.153636310A>GCA358505878TMEM131Lc.4567A>G (p.Thr1523Ala)
c.3898A>G (p.Thr1300Ala)
c.4564A>G (p.Thr1522Ala)
c.2689A>G (p.Thr897Ala)
c.4654A>G (p.Thr1552Ala)
c.4651A>G (p.Thr1551Ala)
c.4624A>G (p.Thr1542Ala)
c.4402A>G (p.Thr1468Ala)
c.4561A>G (p.Thr1521Ala)
c.4621A>G (p.Thr1541Ala)
4g.153636310A>TCA358505880TMEM131Lc.4567A>T (p.Thr1523Ser)
c.3898A>T (p.Thr1300Ser)
c.4564A>T (p.Thr1522Ser)
c.2689A>T (p.Thr897Ser)
c.4654A>T (p.Thr1552Ser)
c.4651A>T (p.Thr1551Ser)
c.4624A>T (p.Thr1542Ser)
c.4402A>T (p.Thr1468Ser)
c.4561A>T (p.Thr1521Ser)
c.4621A>T (p.Thr1541Ser)
4g.153636311C>ACA358505882TMEM131Lc.4568C>A (p.Thr1523Lys)
c.3899C>A (p.Thr1300Lys)
c.4565C>A (p.Thr1522Lys)
c.2690C>A (p.Thr897Lys)
c.4655C>A (p.Thr1552Lys)
c.4652C>A (p.Thr1551Lys)
c.4625C>A (p.Thr1542Lys)
c.4403C>A (p.Thr1468Lys)
c.4562C>A (p.Thr1521Lys)
c.4622C>A (p.Thr1541Lys)
 gnomAD v4
4g.153636311C=CA1504512138TMEM131Lc.4568C= (p.Thr1523=)
c.3899C= (p.Thr1300=)
c.4565C= (p.Thr1522=)
c.2690C= (p.Thr897=)
c.4655C= (p.Thr1552=)
c.4652C= (p.Thr1551=)
c.4625C= (p.Thr1542=)
c.4403C= (p.Thr1468=)
c.4562C= (p.Thr1521=)
c.4622C= (p.Thr1541=)
4g.153636311C>GCA358505884TMEM131Lc.4568C>G (p.Thr1523Arg)
c.3899C>G (p.Thr1300Arg)
c.4565C>G (p.Thr1522Arg)
c.2690C>G (p.Thr897Arg)
c.4655C>G (p.Thr1552Arg)
c.4652C>G (p.Thr1551Arg)
c.4625C>G (p.Thr1542Arg)
c.4403C>G (p.Thr1468Arg)
c.4562C>G (p.Thr1521Arg)
c.4622C>G (p.Thr1541Arg)
4g.153636311C>TCA358505886TMEM131Lc.4568C>T (p.Thr1523Ile)
c.3899C>T (p.Thr1300Ile)
c.4565C>T (p.Thr1522Ile)
c.2690C>T (p.Thr897Ile)
c.4655C>T (p.Thr1552Ile)
c.4652C>T (p.Thr1551Ile)
c.4625C>T (p.Thr1542Ile)
c.4403C>T (p.Thr1468Ile)
c.4562C>T (p.Thr1521Ile)
c.4622C>T (p.Thr1541Ile)
 dbSNP gnomAD v4
4g.153636312A>CCA441799766TMEM131Lc.4569A>C (p.Thr1523=)
c.3900A>C (p.Thr1300=)
c.4566A>C (p.Thr1522=)
c.2691A>C (p.Thr897=)
c.4656A>C (p.Thr1552=)
c.4653A>C (p.Thr1551=)
c.4626A>C (p.Thr1542=)
c.4404A>C (p.Thr1468=)
c.4563A>C (p.Thr1521=)
c.4623A>C (p.Thr1541=)
4g.153636312A>GCA441799768TMEM131Lc.4569A>G (p.Thr1523=)
c.3900A>G (p.Thr1300=)
c.4566A>G (p.Thr1522=)
c.2691A>G (p.Thr897=)
c.4656A>G (p.Thr1552=)
c.4653A>G (p.Thr1551=)
c.4626A>G (p.Thr1542=)
c.4404A>G (p.Thr1468=)
c.4563A>G (p.Thr1521=)
c.4623A>G (p.Thr1541=)
 gnomAD v4
4g.153636312A>TCA441799767TMEM131Lc.4569A>T (p.Thr1523=)
c.3900A>T (p.Thr1300=)
c.4566A>T (p.Thr1522=)
c.2691A>T (p.Thr897=)
c.4656A>T (p.Thr1552=)
c.4653A>T (p.Thr1551=)
c.4626A>T (p.Thr1542=)
c.4404A>T (p.Thr1468=)
c.4563A>T (p.Thr1521=)
c.4623A>T (p.Thr1541=)
 gnomAD v4
4g.153636313A=CA1504512139TMEM131Lc.4570A= (p.Ser1524=)
c.3901A= (p.Ser1301=)
c.4567A= (p.Ser1523=)
c.2692A= (p.Ser898=)
c.4657A= (p.Ser1553=)
c.4654A= (p.Ser1552=)
c.4627A= (p.Ser1543=)
c.4405A= (p.Ser1469=)
c.4564A= (p.Ser1522=)
c.4624A= (p.Ser1542=)
4g.153636313A>CCA358505888TMEM131Lc.4570A>C (p.Ser1524Arg)
c.3901A>C (p.Ser1301Arg)
c.4567A>C (p.Ser1523Arg)
c.2692A>C (p.Ser898Arg)
c.4657A>C (p.Ser1553Arg)
c.4654A>C (p.Ser1552Arg)
c.4627A>C (p.Ser1543Arg)
c.4405A>C (p.Ser1469Arg)
c.4564A>C (p.Ser1522Arg)
c.4624A>C (p.Ser1542Arg)
4g.153636313A>GCA3110575TMEM131Lc.4570A>G (p.Ser1524Gly)
c.3901A>G (p.Ser1301Gly)
c.4567A>G (p.Ser1523Gly)
c.2692A>G (p.Ser898Gly)
c.4657A>G (p.Ser1553Gly)
c.4654A>G (p.Ser1552Gly)
c.4627A>G (p.Ser1543Gly)
c.4405A>G (p.Ser1469Gly)
c.4564A>G (p.Ser1522Gly)
c.4624A>G (p.Ser1542Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.153636313A>TCA358505891TMEM131Lc.4570A>T (p.Ser1524Cys)
c.3901A>T (p.Ser1301Cys)
c.4567A>T (p.Ser1523Cys)
c.2692A>T (p.Ser898Cys)
c.4657A>T (p.Ser1553Cys)
c.4654A>T (p.Ser1552Cys)
c.4627A>T (p.Ser1543Cys)
c.4405A>T (p.Ser1469Cys)
c.4564A>T (p.Ser1522Cys)
c.4624A>T (p.Ser1542Cys)
4g.153636314G>ACA358505893TMEM131Lc.4571G>A (p.Ser1524Asn)
c.3902G>A (p.Ser1301Asn)
c.4568G>A (p.Ser1523Asn)
c.2693G>A (p.Ser898Asn)
c.4658G>A (p.Ser1553Asn)
c.4655G>A (p.Ser1552Asn)
c.4628G>A (p.Ser1543Asn)
c.4406G>A (p.Ser1469Asn)
c.4565G>A (p.Ser1522Asn)
c.4625G>A (p.Ser1542Asn)
 COSMIC COSMIC
4g.153636314G>CCA358505895TMEM131Lc.4571G>C (p.Ser1524Thr)
c.3902G>C (p.Ser1301Thr)
c.4568G>C (p.Ser1523Thr)
c.2693G>C (p.Ser898Thr)
c.4658G>C (p.Ser1553Thr)
c.4655G>C (p.Ser1552Thr)
c.4628G>C (p.Ser1543Thr)
c.4406G>C (p.Ser1469Thr)
c.4565G>C (p.Ser1522Thr)
c.4625G>C (p.Ser1542Thr)
4g.153636314G>TCA358505896TMEM131Lc.4571G>T (p.Ser1524Ile)
c.3902G>T (p.Ser1301Ile)
c.4568G>T (p.Ser1523Ile)
c.2693G>T (p.Ser898Ile)
c.4658G>T (p.Ser1553Ile)
c.4655G>T (p.Ser1552Ile)
c.4628G>T (p.Ser1543Ile)
c.4406G>T (p.Ser1469Ile)
c.4565G>T (p.Ser1522Ile)
c.4625G>T (p.Ser1542Ile)
4g.153636315C>ACA358505899TMEM131Lc.4572C>A (p.Ser1524Arg)
c.3903C>A (p.Ser1301Arg)
c.4569C>A (p.Ser1523Arg)
c.2694C>A (p.Ser898Arg)
c.4659C>A (p.Ser1553Arg)
c.4656C>A (p.Ser1552Arg)
c.4629C>A (p.Ser1543Arg)
c.4407C>A (p.Ser1469Arg)
c.4566C>A (p.Ser1522Arg)
c.4626C>A (p.Ser1542Arg)
4g.153636315C=CA1504512140TMEM131Lc.4572C= (p.Ser1524=)
c.3903C= (p.Ser1301=)
c.4569C= (p.Ser1523=)
c.2694C= (p.Ser898=)
c.4659C= (p.Ser1553=)
c.4656C= (p.Ser1552=)
c.4629C= (p.Ser1543=)
c.4407C= (p.Ser1469=)
c.4566C= (p.Ser1522=)
c.4626C= (p.Ser1542=)
4g.153636315C>GCA358505898TMEM131Lc.4572C>G (p.Ser1524Arg)
c.3903C>G (p.Ser1301Arg)
c.4569C>G (p.Ser1523Arg)
c.2694C>G (p.Ser898Arg)
c.4659C>G (p.Ser1553Arg)
c.4656C>G (p.Ser1552Arg)
c.4629C>G (p.Ser1543Arg)
c.4407C>G (p.Ser1469Arg)
c.4566C>G (p.Ser1522Arg)
c.4626C>G (p.Ser1542Arg)
 dbSNP gnomAD v4
4g.153636315C>TCA441799769TMEM131Lc.4572C>T (p.Ser1524=)
c.3903C>T (p.Ser1301=)
c.4569C>T (p.Ser1523=)
c.2694C>T (p.Ser898=)
c.4659C>T (p.Ser1553=)
c.4656C>T (p.Ser1552=)
c.4629C>T (p.Ser1543=)
c.4407C>T (p.Ser1469=)
c.4566C>T (p.Ser1522=)
c.4626C>T (p.Ser1542=)
4g.153636316A=CA1504512141TMEM131Lc.4573A= (p.Thr1525=)
c.3904A= (p.Thr1302=)
c.4570A= (p.Thr1524=)
c.2695A= (p.Thr899=)
c.4660A= (p.Thr1554=)
c.4657A= (p.Thr1553=)
c.4630A= (p.Thr1544=)
c.4408A= (p.Thr1470=)
c.4567A= (p.Thr1523=)
c.4627A= (p.Thr1543=)
4g.153636316A>CCA3110576TMEM131Lc.4573A>C (p.Thr1525Pro)
c.3904A>C (p.Thr1302Pro)
c.4570A>C (p.Thr1524Pro)
c.2695A>C (p.Thr899Pro)
c.4660A>C (p.Thr1554Pro)
c.4657A>C (p.Thr1553Pro)
c.4630A>C (p.Thr1544Pro)
c.4408A>C (p.Thr1470Pro)
c.4567A>C (p.Thr1523Pro)
c.4627A>C (p.Thr1543Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.153636316A>GCA358505902TMEM131Lc.4573A>G (p.Thr1525Ala)
c.3904A>G (p.Thr1302Ala)
c.4570A>G (p.Thr1524Ala)
c.2695A>G (p.Thr899Ala)
c.4660A>G (p.Thr1554Ala)
c.4657A>G (p.Thr1553Ala)
c.4630A>G (p.Thr1544Ala)
c.4408A>G (p.Thr1470Ala)
c.4567A>G (p.Thr1523Ala)
c.4627A>G (p.Thr1543Ala)
4g.153636316A>TCA358505904TMEM131Lc.4573A>T (p.Thr1525Ser)
c.3904A>T (p.Thr1302Ser)
c.4570A>T (p.Thr1524Ser)
c.2695A>T (p.Thr899Ser)
c.4660A>T (p.Thr1554Ser)
c.4657A>T (p.Thr1553Ser)
c.4630A>T (p.Thr1544Ser)
c.4408A>T (p.Thr1470Ser)
c.4567A>T (p.Thr1523Ser)
c.4627A>T (p.Thr1543Ser)
4g.153636317C>ACA358505906TMEM131Lc.4574C>A (p.Thr1525Asn)
c.3905C>A (p.Thr1302Asn)
c.4571C>A (p.Thr1524Asn)
c.2696C>A (p.Thr899Asn)
c.4661C>A (p.Thr1554Asn)
c.4658C>A (p.Thr1553Asn)
c.4631C>A (p.Thr1544Asn)
c.4409C>A (p.Thr1470Asn)
c.4568C>A (p.Thr1523Asn)
c.4628C>A (p.Thr1543Asn)
4g.153636317C>GCA358505907TMEM131Lc.4574C>G (p.Thr1525Ser)
c.3905C>G (p.Thr1302Ser)
c.4571C>G (p.Thr1524Ser)
c.2696C>G (p.Thr899Ser)
c.4661C>G (p.Thr1554Ser)
c.4658C>G (p.Thr1553Ser)
c.4631C>G (p.Thr1544Ser)
c.4409C>G (p.Thr1470Ser)
c.4568C>G (p.Thr1523Ser)
c.4628C>G (p.Thr1543Ser)
4g.153636317C>TCA358505909TMEM131Lc.4574C>T (p.Thr1525Ile)
c.3905C>T (p.Thr1302Ile)
c.4571C>T (p.Thr1524Ile)
c.2696C>T (p.Thr899Ile)
c.4661C>T (p.Thr1554Ile)
c.4658C>T (p.Thr1553Ile)
c.4631C>T (p.Thr1544Ile)
c.4409C>T (p.Thr1470Ile)
c.4568C>T (p.Thr1523Ile)
c.4628C>T (p.Thr1543Ile)
4g.153636318C>ACA441799770TMEM131Lc.4575C>A (p.Thr1525=)
c.3906C>A (p.Thr1302=)
c.4572C>A (p.Thr1524=)
c.2697C>A (p.Thr899=)
c.4662C>A (p.Thr1554=)
c.4659C>A (p.Thr1553=)
c.4632C>A (p.Thr1544=)
c.4410C>A (p.Thr1470=)
c.4569C>A (p.Thr1523=)
c.4629C>A (p.Thr1543=)
4g.153636318C>GCA441799772TMEM131Lc.4575C>G (p.Thr1525=)
c.3906C>G (p.Thr1302=)
c.4572C>G (p.Thr1524=)
c.2697C>G (p.Thr899=)
c.4662C>G (p.Thr1554=)
c.4659C>G (p.Thr1553=)
c.4632C>G (p.Thr1544=)
c.4410C>G (p.Thr1470=)
c.4569C>G (p.Thr1523=)
c.4629C>G (p.Thr1543=)
4g.153636318C>TCA441799771TMEM131Lc.4575C>T (p.Thr1525=)
c.3906C>T (p.Thr1302=)
c.4572C>T (p.Thr1524=)
c.2697C>T (p.Thr899=)
c.4662C>T (p.Thr1554=)
c.4659C>T (p.Thr1553=)
c.4632C>T (p.Thr1544=)
c.4410C>T (p.Thr1470=)
c.4569C>T (p.Thr1523=)
c.4629C>T (p.Thr1543=)
4g.153636319C>ACA441799773TMEM131Lc.4576C>A (p.Arg1526=)
c.3907C>A (p.Arg1303=)
c.4573C>A (p.Arg1525=)
c.2698C>A (p.Arg900=)
c.4663C>A (p.Arg1555=)
c.4660C>A (p.Arg1554=)
c.4633C>A (p.Arg1545=)
c.4411C>A (p.Arg1471=)
c.4570C>A (p.Arg1524=)
c.4630C>A (p.Arg1544=)
4g.153636319C=CA1504512142TMEM131Lc.4576C= (p.Arg1526=)
c.3907C= (p.Arg1303=)
c.4573C= (p.Arg1525=)
c.2698C= (p.Arg900=)
c.4663C= (p.Arg1555=)
c.4660C= (p.Arg1554=)
c.4633C= (p.Arg1545=)
c.4411C= (p.Arg1471=)
c.4570C= (p.Arg1524=)
c.4630C= (p.Arg1544=)
4g.153636319C>GCA358505912TMEM131Lc.4576C>G (p.Arg1526Gly)
c.3907C>G (p.Arg1303Gly)
c.4573C>G (p.Arg1525Gly)
c.2698C>G (p.Arg900Gly)
c.4663C>G (p.Arg1555Gly)
c.4660C>G (p.Arg1554Gly)
c.4633C>G (p.Arg1545Gly)
c.4411C>G (p.Arg1471Gly)
c.4570C>G (p.Arg1524Gly)
c.4630C>G (p.Arg1544Gly)
 dbSNP gnomAD v2 gnomAD v4
4g.153636319C>TCA358505910TMEM131Lc.4576C>T (p.Arg1526Ter)
c.3907C>T (p.Arg1303Ter)
c.4573C>T (p.Arg1525Ter)
c.2698C>T (p.Arg900Ter)
c.4663C>T (p.Arg1555Ter)
c.4660C>T (p.Arg1554Ter)
c.4633C>T (p.Arg1545Ter)
c.4411C>T (p.Arg1471Ter)
c.4570C>T (p.Arg1524Ter)
c.4630C>T (p.Arg1544Ter)
 gnomAD v4
4g.153636320G>ACA3110577TMEM131Lc.4577G>A (p.Arg1526Gln)
c.3908G>A (p.Arg1303Gln)
c.4574G>A (p.Arg1525Gln)
c.2699G>A (p.Arg900Gln)
c.4664G>A (p.Arg1555Gln)
c.4661G>A (p.Arg1554Gln)
c.4634G>A (p.Arg1545Gln)
c.4412G>A (p.Arg1471Gln)
c.4571G>A (p.Arg1524Gln)
c.4631G>A (p.Arg1544Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.153636320G>CCA358505915TMEM131Lc.4577G>C (p.Arg1526Pro)
c.3908G>C (p.Arg1303Pro)
c.4574G>C (p.Arg1525Pro)
c.2699G>C (p.Arg900Pro)
c.4664G>C (p.Arg1555Pro)
c.4661G>C (p.Arg1554Pro)
c.4634G>C (p.Arg1545Pro)
c.4412G>C (p.Arg1471Pro)
c.4571G>C (p.Arg1524Pro)
c.4631G>C (p.Arg1544Pro)
4g.153636320G=CA1504512143TMEM131Lc.4577G= (p.Arg1526=)
c.3908G= (p.Arg1303=)
c.4574G= (p.Arg1525=)
c.2699G= (p.Arg900=)
c.4664G= (p.Arg1555=)
c.4661G= (p.Arg1554=)
c.4634G= (p.Arg1545=)
c.4412G= (p.Arg1471=)
c.4571G= (p.Arg1524=)
c.4631G= (p.Arg1544=)
4g.153636320G>TCA358505916TMEM131Lc.4577G>T (p.Arg1526Leu)
c.3908G>T (p.Arg1303Leu)
c.4574G>T (p.Arg1525Leu)
c.2699G>T (p.Arg900Leu)
c.4664G>T (p.Arg1555Leu)
c.4661G>T (p.Arg1554Leu)
c.4634G>T (p.Arg1545Leu)
c.4412G>T (p.Arg1471Leu)
c.4571G>T (p.Arg1524Leu)
c.4631G>T (p.Arg1544Leu)
4g.153636321A>CCA441799774TMEM131Lc.4578A>C (p.Arg1526=)
c.3909A>C (p.Arg1303=)
c.4575A>C (p.Arg1525=)
c.2700A>C (p.Arg900=)
c.4665A>C (p.Arg1555=)
c.4662A>C (p.Arg1554=)
c.4635A>C (p.Arg1545=)
c.4413A>C (p.Arg1471=)
c.4572A>C (p.Arg1524=)
c.4632A>C (p.Arg1544=)
4g.153636321A>GCA441799775TMEM131Lc.4578A>G (p.Arg1526=)
c.3909A>G (p.Arg1303=)
c.4575A>G (p.Arg1525=)
c.2700A>G (p.Arg900=)
c.4665A>G (p.Arg1555=)
c.4662A>G (p.Arg1554=)
c.4635A>G (p.Arg1545=)
c.4413A>G (p.Arg1471=)
c.4572A>G (p.Arg1524=)
c.4632A>G (p.Arg1544=)
4g.153636321A>TCA441799776TMEM131Lc.4578A>T (p.Arg1526=)
c.3909A>T (p.Arg1303=)
c.4575A>T (p.Arg1525=)
c.2700A>T (p.Arg900=)
c.4665A>T (p.Arg1555=)
c.4662A>T (p.Arg1554=)
c.4635A>T (p.Arg1545=)
c.4413A>T (p.Arg1471=)
c.4572A>T (p.Arg1524=)
c.4632A>T (p.Arg1544=)
4g.153636322A>CCA358505918TMEM131Lc.4579A>C (p.Ser1527Arg)
c.3910A>C (p.Ser1304Arg)
c.4576A>C (p.Ser1526Arg)
c.2701A>C (p.Ser901Arg)
c.4666A>C (p.Ser1556Arg)
c.4663A>C (p.Ser1555Arg)
c.4636A>C (p.Ser1546Arg)
c.4414A>C (p.Ser1472Arg)
c.4573A>C (p.Ser1525Arg)
c.4633A>C (p.Ser1545Arg)
4g.153636322A>GCA358505920TMEM131Lc.4579A>G (p.Ser1527Gly)
c.3910A>G (p.Ser1304Gly)
c.4576A>G (p.Ser1526Gly)
c.2701A>G (p.Ser901Gly)
c.4666A>G (p.Ser1556Gly)
c.4663A>G (p.Ser1555Gly)
c.4636A>G (p.Ser1546Gly)
c.4414A>G (p.Ser1472Gly)
c.4573A>G (p.Ser1525Gly)
c.4633A>G (p.Ser1545Gly)
4g.153636322A>TCA358505922TMEM131Lc.4579A>T (p.Ser1527Cys)
c.3910A>T (p.Ser1304Cys)
c.4576A>T (p.Ser1526Cys)
c.2701A>T (p.Ser901Cys)
c.4666A>T (p.Ser1556Cys)
c.4663A>T (p.Ser1555Cys)
c.4636A>T (p.Ser1546Cys)
c.4414A>T (p.Ser1472Cys)
c.4573A>T (p.Ser1525Cys)
c.4633A>T (p.Ser1545Cys)
4g.153636323G>ACA358505928TMEM131Lc.4580G>A (p.Ser1527Asn)
c.3911G>A (p.Ser1304Asn)
c.4577G>A (p.Ser1526Asn)
c.2702G>A (p.Ser901Asn)
c.4667G>A (p.Ser1556Asn)
c.4664G>A (p.Ser1555Asn)
c.4637G>A (p.Ser1546Asn)
c.4415G>A (p.Ser1472Asn)
c.4574G>A (p.Ser1525Asn)
c.4634G>A (p.Ser1545Asn)
4g.153636323G>CCA358505924TMEM131Lc.4580G>C (p.Ser1527Thr)
c.3911G>C (p.Ser1304Thr)
c.4577G>C (p.Ser1526Thr)
c.2702G>C (p.Ser901Thr)
c.4667G>C (p.Ser1556Thr)
c.4664G>C (p.Ser1555Thr)
c.4637G>C (p.Ser1546Thr)
c.4415G>C (p.Ser1472Thr)
c.4574G>C (p.Ser1525Thr)
c.4634G>C (p.Ser1545Thr)
4g.153636323G>TCA358505926TMEM131Lc.4580G>T (p.Ser1527Ile)
c.3911G>T (p.Ser1304Ile)
c.4577G>T (p.Ser1526Ile)
c.2702G>T (p.Ser901Ile)
c.4667G>T (p.Ser1556Ile)
c.4664G>T (p.Ser1555Ile)
c.4637G>T (p.Ser1546Ile)
c.4415G>T (p.Ser1472Ile)
c.4574G>T (p.Ser1525Ile)
c.4634G>T (p.Ser1545Ile)
4g.153636324C>ACA358505929TMEM131Lc.4581C>A (p.Ser1527Arg)
c.3912C>A (p.Ser1304Arg)
c.4578C>A (p.Ser1526Arg)
c.2703C>A (p.Ser901Arg)
c.4668C>A (p.Ser1556Arg)
c.4665C>A (p.Ser1555Arg)
c.4638C>A (p.Ser1546Arg)
c.4416C>A (p.Ser1472Arg)
c.4575C>A (p.Ser1525Arg)
c.4635C>A (p.Ser1545Arg)
4g.153636324C=CA1504512144TMEM131Lc.4581C= (p.Ser1527=)
c.3912C= (p.Ser1304=)
c.4578C= (p.Ser1526=)
c.2703C= (p.Ser901=)
c.4668C= (p.Ser1556=)
c.4665C= (p.Ser1555=)
c.4638C= (p.Ser1546=)
c.4416C= (p.Ser1472=)
c.4575C= (p.Ser1525=)
c.4635C= (p.Ser1545=)
4g.153636324C>GCA358505930TMEM131Lc.4581C>G (p.Ser1527Arg)
c.3912C>G (p.Ser1304Arg)
c.4578C>G (p.Ser1526Arg)
c.2703C>G (p.Ser901Arg)
c.4668C>G (p.Ser1556Arg)
c.4665C>G (p.Ser1555Arg)
c.4638C>G (p.Ser1546Arg)
c.4416C>G (p.Ser1472Arg)
c.4575C>G (p.Ser1525Arg)
c.4635C>G (p.Ser1545Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.153636324C>TCA441799777TMEM131Lc.4581C>T (p.Ser1527=)
c.3912C>T (p.Ser1304=)
c.4578C>T (p.Ser1526=)
c.2703C>T (p.Ser901=)
c.4668C>T (p.Ser1556=)
c.4665C>T (p.Ser1555=)
c.4638C>T (p.Ser1546=)
c.4416C>T (p.Ser1472=)
c.4575C>T (p.Ser1525=)
c.4635C>T (p.Ser1545=)
 gnomAD v4
4g.153636325T>ACA358505932TMEM131Lc.4582T>A (p.Leu1528Met)
c.3913T>A (p.Leu1305Met)
c.4579T>A (p.Leu1527Met)
c.2704T>A (p.Leu902Met)
c.4669T>A (p.Leu1557Met)
c.4666T>A (p.Leu1556Met)
c.4639T>A (p.Leu1547Met)
c.4417T>A (p.Leu1473Met)
c.4576T>A (p.Leu1526Met)
c.4636T>A (p.Leu1546Met)
4g.153636325T>CCA441799778TMEM131Lc.4582T>C (p.Leu1528=)
c.3913T>C (p.Leu1305=)
c.4579T>C (p.Leu1527=)
c.2704T>C (p.Leu902=)
c.4669T>C (p.Leu1557=)
c.4666T>C (p.Leu1556=)
c.4639T>C (p.Leu1547=)
c.4417T>C (p.Leu1473=)
c.4576T>C (p.Leu1526=)
c.4636T>C (p.Leu1546=)
4g.153636325T>GCA358505933TMEM131Lc.4582T>G (p.Leu1528Val)
c.3913T>G (p.Leu1305Val)
c.4579T>G (p.Leu1527Val)
c.2704T>G (p.Leu902Val)
c.4669T>G (p.Leu1557Val)
c.4666T>G (p.Leu1556Val)
c.4639T>G (p.Leu1547Val)
c.4417T>G (p.Leu1473Val)
c.4576T>G (p.Leu1526Val)
c.4636T>G (p.Leu1546Val)
4g.153636326T>ACA358505935TMEM131Lc.4583T>A (p.Leu1528Ter)
c.3914T>A (p.Leu1305Ter)
c.4580T>A (p.Leu1527Ter)
c.2705T>A (p.Leu902Ter)
c.4670T>A (p.Leu1557Ter)
c.4667T>A (p.Leu1556Ter)
c.4640T>A (p.Leu1547Ter)
c.4418T>A (p.Leu1473Ter)
c.4577T>A (p.Leu1526Ter)
c.4637T>A (p.Leu1546Ter)
4g.153636326T>CCA358505937TMEM131Lc.4583T>C (p.Leu1528Ser)
c.3914T>C (p.Leu1305Ser)
c.4580T>C (p.Leu1527Ser)
c.2705T>C (p.Leu902Ser)
c.4670T>C (p.Leu1557Ser)
c.4667T>C (p.Leu1556Ser)
c.4640T>C (p.Leu1547Ser)
c.4418T>C (p.Leu1473Ser)
c.4577T>C (p.Leu1526Ser)
c.4637T>C (p.Leu1546Ser)
4g.153636326T>GCA358505939TMEM131Lc.4583T>G (p.Leu1528Trp)
c.3914T>G (p.Leu1305Trp)
c.4580T>G (p.Leu1527Trp)
c.2705T>G (p.Leu902Trp)
c.4670T>G (p.Leu1557Trp)
c.4667T>G (p.Leu1556Trp)
c.4640T>G (p.Leu1547Trp)
c.4418T>G (p.Leu1473Trp)
c.4577T>G (p.Leu1526Trp)
c.4637T>G (p.Leu1546Trp)
4g.153636327G>ACA441799779TMEM131Lc.4584G>A (p.Leu1528=)
c.3915G>A (p.Leu1305=)
c.4581G>A (p.Leu1527=)
c.2706G>A (p.Leu902=)
c.4671G>A (p.Leu1557=)
c.4668G>A (p.Leu1556=)
c.4641G>A (p.Leu1547=)
c.4419G>A (p.Leu1473=)
c.4578G>A (p.Leu1526=)
c.4638G>A (p.Leu1546=)
4g.153636327G>CCA358505940TMEM131Lc.4584G>C (p.Leu1528Phe)
c.3915G>C (p.Leu1305Phe)
c.4581G>C (p.Leu1527Phe)
c.2706G>C (p.Leu902Phe)
c.4671G>C (p.Leu1557Phe)
c.4668G>C (p.Leu1556Phe)
c.4641G>C (p.Leu1547Phe)
c.4419G>C (p.Leu1473Phe)
c.4578G>C (p.Leu1526Phe)
c.4638G>C (p.Leu1546Phe)
4g.153636327G>TCA358505942TMEM131Lc.4584G>T (p.Leu1528Phe)
c.3915G>T (p.Leu1305Phe)
c.4581G>T (p.Leu1527Phe)
c.2706G>T (p.Leu902Phe)
c.4671G>T (p.Leu1557Phe)
c.4668G>T (p.Leu1556Phe)
c.4641G>T (p.Leu1547Phe)
c.4419G>T (p.Leu1473Phe)
c.4578G>T (p.Leu1526Phe)
c.4638G>T (p.Leu1546Phe)
4g.153636328T>ACA358505944TMEM131Lc.4585T>A (p.Ser1529Thr)
c.3916T>A (p.Ser1306Thr)
c.4582T>A (p.Ser1528Thr)
c.2707T>A (p.Ser903Thr)
c.4672T>A (p.Ser1558Thr)
c.4669T>A (p.Ser1557Thr)
c.4642T>A (p.Ser1548Thr)
c.4420T>A (p.Ser1474Thr)
c.4579T>A (p.Ser1527Thr)
c.4639T>A (p.Ser1547Thr)
4g.153636328T>CCA358505945TMEM131Lc.4585T>C (p.Ser1529Pro)
c.3916T>C (p.Ser1306Pro)
c.4582T>C (p.Ser1528Pro)
c.2707T>C (p.Ser903Pro)
c.4672T>C (p.Ser1558Pro)
c.4669T>C (p.Ser1557Pro)
c.4642T>C (p.Ser1548Pro)
c.4420T>C (p.Ser1474Pro)
c.4579T>C (p.Ser1527Pro)
c.4639T>C (p.Ser1547Pro)
4g.153636328T>GCA358505947TMEM131Lc.4585T>G (p.Ser1529Ala)
c.3916T>G (p.Ser1306Ala)
c.4582T>G (p.Ser1528Ala)
c.2707T>G (p.Ser903Ala)
c.4672T>G (p.Ser1558Ala)
c.4669T>G (p.Ser1557Ala)
c.4642T>G (p.Ser1548Ala)
c.4420T>G (p.Ser1474Ala)
c.4579T>G (p.Ser1527Ala)
c.4639T>G (p.Ser1547Ala)
4g.153636329C>ACA358505950TMEM131Lc.4586C>A (p.Ser1529Tyr)
c.3917C>A (p.Ser1306Tyr)
c.4583C>A (p.Ser1528Tyr)
c.2708C>A (p.Ser903Tyr)
c.4673C>A (p.Ser1558Tyr)
c.4670C>A (p.Ser1557Tyr)
c.4643C>A (p.Ser1548Tyr)
c.4421C>A (p.Ser1474Tyr)
c.4580C>A (p.Ser1527Tyr)
c.4640C>A (p.Ser1547Tyr)
4g.153636329C>GCA358505951TMEM131Lc.4586C>G (p.Ser1529Cys)
c.3917C>G (p.Ser1306Cys)
c.4583C>G (p.Ser1528Cys)
c.2708C>G (p.Ser903Cys)
c.4673C>G (p.Ser1558Cys)
c.4670C>G (p.Ser1557Cys)
c.4643C>G (p.Ser1548Cys)
c.4421C>G (p.Ser1474Cys)
c.4580C>G (p.Ser1527Cys)
c.4640C>G (p.Ser1547Cys)
4g.153636329C>TCA358505953TMEM131Lc.4586C>T (p.Ser1529Phe)
c.3917C>T (p.Ser1306Phe)
c.4583C>T (p.Ser1528Phe)
c.2708C>T (p.Ser903Phe)
c.4673C>T (p.Ser1558Phe)
c.4670C>T (p.Ser1557Phe)
c.4643C>T (p.Ser1548Phe)
c.4421C>T (p.Ser1474Phe)
c.4580C>T (p.Ser1527Phe)
c.4640C>T (p.Ser1547Phe)
4g.153636330T>ACA441799780TMEM131Lc.4587T>A (p.Ser1529=)
c.3918T>A (p.Ser1306=)
c.4584T>A (p.Ser1528=)
c.2709T>A (p.Ser903=)
c.4674T>A (p.Ser1558=)
c.4671T>A (p.Ser1557=)
c.4644T>A (p.Ser1548=)
c.4422T>A (p.Ser1474=)
c.4581T>A (p.Ser1527=)
c.4641T>A (p.Ser1547=)
4g.153636330T>CCA3110578TMEM131Lc.4587T>C (p.Ser1529=)
c.3918T>C (p.Ser1306=)
c.4584T>C (p.Ser1528=)
c.2709T>C (p.Ser903=)
c.4674T>C (p.Ser1558=)
c.4671T>C (p.Ser1557=)
c.4644T>C (p.Ser1548=)
c.4422T>C (p.Ser1474=)
c.4581T>C (p.Ser1527=)
c.4641T>C (p.Ser1547=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.153636330T>GCA441799781TMEM131Lc.4587T>G (p.Ser1529=)
c.3918T>G (p.Ser1306=)
c.4584T>G (p.Ser1528=)
c.2709T>G (p.Ser903=)
c.4674T>G (p.Ser1558=)
c.4671T>G (p.Ser1557=)
c.4644T>G (p.Ser1548=)
c.4422T>G (p.Ser1474=)
c.4581T>G (p.Ser1527=)
c.4641T>G (p.Ser1547=)
4g.153636330T=CA1504512145TMEM131Lc.4587T= (p.Ser1529=)
c.3918T= (p.Ser1306=)
c.4584T= (p.Ser1528=)
c.2709T= (p.Ser903=)
c.4674T= (p.Ser1558=)
c.4671T= (p.Ser1557=)
c.4644T= (p.Ser1548=)
c.4422T= (p.Ser1474=)
c.4581T= (p.Ser1527=)
c.4641T= (p.Ser1547=)
4g.153636331C>ACA358505956TMEM131Lc.4588C>A (p.Pro1530Thr)
c.3919C>A (p.Pro1307Thr)
c.4585C>A (p.Pro1529Thr)
c.2710C>A (p.Pro904Thr)
c.4675C>A (p.Pro1559Thr)
c.4672C>A (p.Pro1558Thr)
c.4645C>A (p.Pro1549Thr)
c.4423C>A (p.Pro1475Thr)
c.4582C>A (p.Pro1528Thr)
c.4642C>A (p.Pro1548Thr)
4g.153636331C>GCA358505958TMEM131Lc.4588C>G (p.Pro1530Ala)
c.3919C>G (p.Pro1307Ala)
c.4585C>G (p.Pro1529Ala)
c.2710C>G (p.Pro904Ala)
c.4675C>G (p.Pro1559Ala)
c.4672C>G (p.Pro1558Ala)
c.4645C>G (p.Pro1549Ala)
c.4423C>G (p.Pro1475Ala)
c.4582C>G (p.Pro1528Ala)
c.4642C>G (p.Pro1548Ala)
4g.153636331C>TCA358505960TMEM131Lc.4588C>T (p.Pro1530Ser)
c.3919C>T (p.Pro1307Ser)
c.4585C>T (p.Pro1529Ser)
c.2710C>T (p.Pro904Ser)
c.4675C>T (p.Pro1559Ser)
c.4672C>T (p.Pro1558Ser)
c.4645C>T (p.Pro1549Ser)
c.4423C>T (p.Pro1475Ser)
c.4582C>T (p.Pro1528Ser)
c.4642C>T (p.Pro1548Ser)
4g.153636332C>ACA358505962TMEM131Lc.4589C>A (p.Pro1530Gln)
c.3920C>A (p.Pro1307Gln)
c.4586C>A (p.Pro1529Gln)
c.2711C>A (p.Pro904Gln)
c.4676C>A (p.Pro1559Gln)
c.4673C>A (p.Pro1558Gln)
c.4646C>A (p.Pro1549Gln)
c.4424C>A (p.Pro1475Gln)
c.4583C>A (p.Pro1528Gln)
c.4643C>A (p.Pro1548Gln)
4g.153636332C>GCA358505964TMEM131Lc.4589C>G (p.Pro1530Arg)
c.3920C>G (p.Pro1307Arg)
c.4586C>G (p.Pro1529Arg)
c.2711C>G (p.Pro904Arg)
c.4676C>G (p.Pro1559Arg)
c.4673C>G (p.Pro1558Arg)
c.4646C>G (p.Pro1549Arg)
c.4424C>G (p.Pro1475Arg)
c.4583C>G (p.Pro1528Arg)
c.4643C>G (p.Pro1548Arg)
4g.153636332C>TCA358505966TMEM131Lc.4589C>T (p.Pro1530Leu)
c.3920C>T (p.Pro1307Leu)
c.4586C>T (p.Pro1529Leu)
c.2711C>T (p.Pro904Leu)
c.4676C>T (p.Pro1559Leu)
c.4673C>T (p.Pro1558Leu)
c.4646C>T (p.Pro1549Leu)
c.4424C>T (p.Pro1475Leu)
c.4583C>T (p.Pro1528Leu)
c.4643C>T (p.Pro1548Leu)
4g.153636333A=CA1504512146TMEM131Lc.4590A= (p.Pro1530=)
c.3921A= (p.Pro1307=)
c.4587A= (p.Pro1529=)
c.2712A= (p.Pro904=)
c.4677A= (p.Pro1559=)
c.4674A= (p.Pro1558=)
c.4647A= (p.Pro1549=)
c.4425A= (p.Pro1475=)
c.4584A= (p.Pro1528=)
c.4644A= (p.Pro1548=)
4g.153636333A>CCA441799782TMEM131Lc.4590A>C (p.Pro1530=)
c.3921A>C (p.Pro1307=)
c.4587A>C (p.Pro1529=)
c.2712A>C (p.Pro904=)
c.4677A>C (p.Pro1559=)
c.4674A>C (p.Pro1558=)
c.4647A>C (p.Pro1549=)
c.4425A>C (p.Pro1475=)
c.4584A>C (p.Pro1528=)
c.4644A>C (p.Pro1548=)
4g.153636333A>GCA3110579TMEM131Lc.4590A>G (p.Pro1530=)
c.3921A>G (p.Pro1307=)
c.4587A>G (p.Pro1529=)
c.2712A>G (p.Pro904=)
c.4677A>G (p.Pro1559=)
c.4674A>G (p.Pro1558=)
c.4647A>G (p.Pro1549=)
c.4425A>G (p.Pro1475=)
c.4584A>G (p.Pro1528=)
c.4644A>G (p.Pro1548=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.153636333A>TCA441799783TMEM131Lc.4590A>T (p.Pro1530=)
c.3921A>T (p.Pro1307=)
c.4587A>T (p.Pro1529=)
c.2712A>T (p.Pro904=)
c.4677A>T (p.Pro1559=)
c.4674A>T (p.Pro1558=)
c.4647A>T (p.Pro1549=)
c.4425A>T (p.Pro1475=)
c.4584A>T (p.Pro1528=)
c.4644A>T (p.Pro1548=)
4g.153636334A=CA1504512147TMEM131Lc.4591A= (p.Met1531=)
c.3922A= (p.Met1308=)
c.4588A= (p.Met1530=)
c.2713A= (p.Met905=)
c.4678A= (p.Met1560=)
c.4675A= (p.Met1559=)
c.4648A= (p.Met1550=)
c.4426A= (p.Met1476=)
c.4585A= (p.Met1529=)
c.4645A= (p.Met1549=)
4g.153636334A>CCA358505968TMEM131Lc.4591A>C (p.Met1531Leu)
c.3922A>C (p.Met1308Leu)
c.4588A>C (p.Met1530Leu)
c.2713A>C (p.Met905Leu)
c.4678A>C (p.Met1560Leu)
c.4675A>C (p.Met1559Leu)
c.4648A>C (p.Met1550Leu)
c.4426A>C (p.Met1476Leu)
c.4585A>C (p.Met1529Leu)
c.4645A>C (p.Met1549Leu)
4g.153636334A>GCA107951329TMEM131Lc.4591A>G (p.Met1531Val)
c.3922A>G (p.Met1308Val)
c.4588A>G (p.Met1530Val)
c.2713A>G (p.Met905Val)
c.4678A>G (p.Met1560Val)
c.4675A>G (p.Met1559Val)
c.4648A>G (p.Met1550Val)
c.4426A>G (p.Met1476Val)
c.4585A>G (p.Met1529Val)
c.4645A>G (p.Met1549Val)
 dbSNP gnomAD v2 gnomAD v4
4g.153636334A>TCA358505970TMEM131Lc.4591A>T (p.Met1531Leu)
c.3922A>T (p.Met1308Leu)
c.4588A>T (p.Met1530Leu)
c.2713A>T (p.Met905Leu)
c.4678A>T (p.Met1560Leu)
c.4675A>T (p.Met1559Leu)
c.4648A>T (p.Met1550Leu)
c.4426A>T (p.Met1476Leu)
c.4585A>T (p.Met1529Leu)
c.4645A>T (p.Met1549Leu)
 gnomAD v4
4g.153636335T>ACA358505973TMEM131Lc.4592T>A (p.Met1531Lys)
c.3923T>A (p.Met1308Lys)
c.4589T>A (p.Met1530Lys)
c.2714T>A (p.Met905Lys)
c.4679T>A (p.Met1560Lys)
c.4676T>A (p.Met1559Lys)
c.4649T>A (p.Met1550Lys)
c.4427T>A (p.Met1476Lys)
c.4586T>A (p.Met1529Lys)
c.4646T>A (p.Met1549Lys)
4g.153636335T>CCA358505974TMEM131Lc.4592T>C (p.Met1531Thr)
c.3923T>C (p.Met1308Thr)
c.4589T>C (p.Met1530Thr)
c.2714T>C (p.Met905Thr)
c.4679T>C (p.Met1560Thr)
c.4676T>C (p.Met1559Thr)
c.4649T>C (p.Met1550Thr)
c.4427T>C (p.Met1476Thr)
c.4586T>C (p.Met1529Thr)
c.4646T>C (p.Met1549Thr)
4g.153636335T>GCA358505975TMEM131Lc.4592T>G (p.Met1531Arg)
c.3923T>G (p.Met1308Arg)
c.4589T>G (p.Met1530Arg)
c.2714T>G (p.Met905Arg)
c.4679T>G (p.Met1560Arg)
c.4676T>G (p.Met1559Arg)
c.4649T>G (p.Met1550Arg)
c.4427T>G (p.Met1476Arg)
c.4586T>G (p.Met1529Arg)
c.4646T>G (p.Met1549Arg)
4g.153636336G>ACA358505978TMEM131Lc.4593G>A (p.Met1531Ile)
c.3924G>A (p.Met1308Ile)
c.4590G>A (p.Met1530Ile)
c.2715G>A (p.Met905Ile)
c.4680G>A (p.Met1560Ile)
c.4677G>A (p.Met1559Ile)
c.4650G>A (p.Met1550Ile)
c.4428G>A (p.Met1476Ile)
c.4587G>A (p.Met1529Ile)
c.4647G>A (p.Met1549Ile)
 COSMIC COSMIC
4g.153636336G>CCA358505981TMEM131Lc.4593G>C (p.Met1531Ile)
c.3924G>C (p.Met1308Ile)
c.4590G>C (p.Met1530Ile)
c.2715G>C (p.Met905Ile)
c.4680G>C (p.Met1560Ile)
c.4677G>C (p.Met1559Ile)
c.4650G>C (p.Met1550Ile)
c.4428G>C (p.Met1476Ile)
c.4587G>C (p.Met1529Ile)
c.4647G>C (p.Met1549Ile)
4g.153636336G>TCA358505980TMEM131Lc.4593G>T (p.Met1531Ile)
c.3924G>T (p.Met1308Ile)
c.4590G>T (p.Met1530Ile)
c.2715G>T (p.Met905Ile)
c.4680G>T (p.Met1560Ile)
c.4677G>T (p.Met1559Ile)
c.4650G>T (p.Met1550Ile)
c.4428G>T (p.Met1476Ile)
c.4587G>T (p.Met1529Ile)
c.4647G>T (p.Met1549Ile)
4g.153636337T>ACA358505985TMEM131Lc.4594T>A (p.Ser1532Thr)
c.3925T>A (p.Ser1309Thr)
c.4591T>A (p.Ser1531Thr)
c.2716T>A (p.Ser906Thr)
c.4681T>A (p.Ser1561Thr)
c.4678T>A (p.Ser1560Thr)
c.4651T>A (p.Ser1551Thr)
c.4429T>A (p.Ser1477Thr)
c.4588T>A (p.Ser1530Thr)
c.4648T>A (p.Ser1550Thr)
4g.153636337T>CCA358505986TMEM131Lc.4594T>C (p.Ser1532Pro)
c.3925T>C (p.Ser1309Pro)
c.4591T>C (p.Ser1531Pro)
c.2716T>C (p.Ser906Pro)
c.4681T>C (p.Ser1561Pro)
c.4678T>C (p.Ser1560Pro)
c.4651T>C (p.Ser1551Pro)
c.4429T>C (p.Ser1477Pro)
c.4588T>C (p.Ser1530Pro)
c.4648T>C (p.Ser1550Pro)
4g.153636337T>GCA358505988TMEM131Lc.4594T>G (p.Ser1532Ala)
c.3925T>G (p.Ser1309Ala)
c.4591T>G (p.Ser1531Ala)
c.2716T>G (p.Ser906Ala)
c.4681T>G (p.Ser1561Ala)
c.4678T>G (p.Ser1560Ala)
c.4651T>G (p.Ser1551Ala)
c.4429T>G (p.Ser1477Ala)
c.4588T>G (p.Ser1530Ala)
c.4648T>G (p.Ser1550Ala)
4g.153636338C>ACA358505990TMEM131Lc.4595C>A (p.Ser1532Tyr)
c.3926C>A (p.Ser1309Tyr)
c.4592C>A (p.Ser1531Tyr)
c.2717C>A (p.Ser906Tyr)
c.4682C>A (p.Ser1561Tyr)
c.4679C>A (p.Ser1560Tyr)
c.4652C>A (p.Ser1551Tyr)
c.4430C>A (p.Ser1477Tyr)
c.4589C>A (p.Ser1530Tyr)
c.4649C>A (p.Ser1550Tyr)
4g.153636338C>GCA358505992TMEM131Lc.4595C>G (p.Ser1532Cys)
c.3926C>G (p.Ser1309Cys)
c.4592C>G (p.Ser1531Cys)
c.2717C>G (p.Ser906Cys)
c.4682C>G (p.Ser1561Cys)
c.4679C>G (p.Ser1560Cys)
c.4652C>G (p.Ser1551Cys)
c.4430C>G (p.Ser1477Cys)
c.4589C>G (p.Ser1530Cys)
c.4649C>G (p.Ser1550Cys)
4g.153636338C>TCA358505993TMEM131Lc.4595C>T (p.Ser1532Phe)
c.3926C>T (p.Ser1309Phe)
c.4592C>T (p.Ser1531Phe)
c.2717C>T (p.Ser906Phe)
c.4682C>T (p.Ser1561Phe)
c.4679C>T (p.Ser1560Phe)
c.4652C>T (p.Ser1551Phe)
c.4430C>T (p.Ser1477Phe)
c.4589C>T (p.Ser1530Phe)
c.4649C>T (p.Ser1550Phe)
4g.153636339T>ACA441799784TMEM131Lc.4596T>A (p.Ser1532=)
c.3927T>A (p.Ser1309=)
c.4593T>A (p.Ser1531=)
c.2718T>A (p.Ser906=)
c.4683T>A (p.Ser1561=)
c.4680T>A (p.Ser1560=)
c.4653T>A (p.Ser1551=)
c.4431T>A (p.Ser1477=)
c.4590T>A (p.Ser1530=)
c.4650T>A (p.Ser1550=)
4g.153636339T>CCA441799785TMEM131Lc.4596T>C (p.Ser1532=)
c.3927T>C (p.Ser1309=)
c.4593T>C (p.Ser1531=)
c.2718T>C (p.Ser906=)
c.4683T>C (p.Ser1561=)
c.4680T>C (p.Ser1560=)
c.4653T>C (p.Ser1551=)
c.4431T>C (p.Ser1477=)
c.4590T>C (p.Ser1530=)
c.4650T>C (p.Ser1550=)
4g.153636339T>GCA441799786TMEM131Lc.4596T>G (p.Ser1532=)
c.3927T>G (p.Ser1309=)
c.4593T>G (p.Ser1531=)
c.2718T>G (p.Ser906=)
c.4683T>G (p.Ser1561=)
c.4680T>G (p.Ser1560=)
c.4653T>G (p.Ser1551=)
c.4431T>G (p.Ser1477=)
c.4590T>G (p.Ser1530=)
c.4650T>G (p.Ser1550=)
4g.153636340G>ACA358505999TMEM131Lc.4597G>A (p.Gly1533Arg)
c.3928G>A (p.Gly1310Arg)
c.4594G>A (p.Gly1532Arg)
c.2719G>A (p.Gly907Arg)
c.4684G>A (p.Gly1562Arg)
c.4681G>A (p.Gly1561Arg)
c.4654G>A (p.Gly1552Arg)
c.4432G>A (p.Gly1478Arg)
c.4591G>A (p.Gly1531Arg)
c.4651G>A (p.Gly1551Arg)
4g.153636340G>CCA358505998TMEM131Lc.4597G>C (p.Gly1533Arg)
c.3928G>C (p.Gly1310Arg)
c.4594G>C (p.Gly1532Arg)
c.2719G>C (p.Gly907Arg)
c.4684G>C (p.Gly1562Arg)
c.4681G>C (p.Gly1561Arg)
c.4654G>C (p.Gly1552Arg)
c.4432G>C (p.Gly1478Arg)
c.4591G>C (p.Gly1531Arg)
c.4651G>C (p.Gly1551Arg)
4g.153636340G>TCA358505996TMEM131Lc.4597G>T (p.Gly1533Ter)
c.3928G>T (p.Gly1310Ter)
c.4594G>T (p.Gly1532Ter)
c.2719G>T (p.Gly907Ter)
c.4684G>T (p.Gly1562Ter)
c.4681G>T (p.Gly1561Ter)
c.4654G>T (p.Gly1552Ter)
c.4432G>T (p.Gly1478Ter)
c.4591G>T (p.Gly1531Ter)
c.4651G>T (p.Gly1551Ter)
4g.153636341G>ACA358506002TMEM131Lc.4598G>A (p.Gly1533Glu)
c.3929G>A (p.Gly1310Glu)
c.4595G>A (p.Gly1532Glu)
c.2720G>A (p.Gly907Glu)
c.4685G>A (p.Gly1562Glu)
c.4682G>A (p.Gly1561Glu)
c.4655G>A (p.Gly1552Glu)
c.4433G>A (p.Gly1478Glu)
c.4592G>A (p.Gly1531Glu)
c.4652G>A (p.Gly1551Glu)
 COSMIC COSMIC
4g.153636341G>CCA358506003TMEM131Lc.4598G>C (p.Gly1533Ala)
c.3929G>C (p.Gly1310Ala)
c.4595G>C (p.Gly1532Ala)
c.2720G>C (p.Gly907Ala)
c.4685G>C (p.Gly1562Ala)
c.4682G>C (p.Gly1561Ala)
c.4655G>C (p.Gly1552Ala)
c.4433G>C (p.Gly1478Ala)
c.4592G>C (p.Gly1531Ala)
c.4652G>C (p.Gly1551Ala)
4g.153636341G>TCA358506005TMEM131Lc.4598G>T (p.Gly1533Val)
c.3929G>T (p.Gly1310Val)
c.4595G>T (p.Gly1532Val)
c.2720G>T (p.Gly907Val)
c.4685G>T (p.Gly1562Val)
c.4682G>T (p.Gly1561Val)
c.4655G>T (p.Gly1552Val)
c.4433G>T (p.Gly1478Val)
c.4592G>T (p.Gly1531Val)
c.4652G>T (p.Gly1551Val)
4g.153636342A>CCA441799787TMEM131Lc.4599A>C (p.Gly1533=)
c.3930A>C (p.Gly1310=)
c.4596A>C (p.Gly1532=)
c.2721A>C (p.Gly907=)
c.4686A>C (p.Gly1562=)
c.4683A>C (p.Gly1561=)
c.4656A>C (p.Gly1552=)
c.4434A>C (p.Gly1478=)
c.4593A>C (p.Gly1531=)
c.4653A>C (p.Gly1551=)
4g.153636342A>GCA441799788TMEM131Lc.4599A>G (p.Gly1533=)
c.3930A>G (p.Gly1310=)
c.4596A>G (p.Gly1532=)
c.2721A>G (p.Gly907=)
c.4686A>G (p.Gly1562=)
c.4683A>G (p.Gly1561=)
c.4656A>G (p.Gly1552=)
c.4434A>G (p.Gly1478=)
c.4593A>G (p.Gly1531=)
c.4653A>G (p.Gly1551=)
4g.153636342A>TCA441799790TMEM131Lc.4599A>T (p.Gly1533=)
c.3930A>T (p.Gly1310=)
c.4596A>T (p.Gly1532=)
c.2721A>T (p.Gly907=)
c.4686A>T (p.Gly1562=)
c.4683A>T (p.Gly1561=)
c.4656A>T (p.Gly1552=)
c.4434A>T (p.Gly1478=)
c.4593A>T (p.Gly1531=)
c.4653A>T (p.Gly1551=)
4g.153636343C>ACA358506008TMEM131Lc.4600C>A (p.Leu1534Ile)
c.3931C>A (p.Leu1311Ile)
c.4597C>A (p.Leu1533Ile)
c.2722C>A (p.Leu908Ile)
c.4687C>A (p.Leu1563Ile)
c.4684C>A (p.Leu1562Ile)
c.4657C>A (p.Leu1553Ile)
c.4435C>A (p.Leu1479Ile)
c.4594C>A (p.Leu1532Ile)
c.4654C>A (p.Leu1552Ile)
 gnomAD v4
4g.153636343C>GCA358506009TMEM131Lc.4600C>G (p.Leu1534Val)
c.3931C>G (p.Leu1311Val)
c.4597C>G (p.Leu1533Val)
c.2722C>G (p.Leu908Val)
c.4687C>G (p.Leu1563Val)
c.4684C>G (p.Leu1562Val)
c.4657C>G (p.Leu1553Val)
c.4435C>G (p.Leu1479Val)
c.4594C>G (p.Leu1532Val)
c.4654C>G (p.Leu1552Val)
 gnomAD v4
4g.153636343C>TCA358506012TMEM131Lc.4600C>T (p.Leu1534Phe)
c.3931C>T (p.Leu1311Phe)
c.4597C>T (p.Leu1533Phe)
c.2722C>T (p.Leu908Phe)
c.4687C>T (p.Leu1563Phe)
c.4684C>T (p.Leu1562Phe)
c.4657C>T (p.Leu1553Phe)
c.4435C>T (p.Leu1479Phe)
c.4594C>T (p.Leu1532Phe)
c.4654C>T (p.Leu1552Phe)
4g.153636344T>ACA358506014TMEM131Lc.4601T>A (p.Leu1534His)
c.3932T>A (p.Leu1311His)
c.4598T>A (p.Leu1533His)
c.2723T>A (p.Leu908His)
c.4688T>A (p.Leu1563His)
c.4685T>A (p.Leu1562His)
c.4658T>A (p.Leu1553His)
c.4436T>A (p.Leu1479His)
c.4595T>A (p.Leu1532His)
c.4655T>A (p.Leu1552His)
 gnomAD v4
4g.153636344T>CCA358506017TMEM131Lc.4601T>C (p.Leu1534Pro)
c.3932T>C (p.Leu1311Pro)
c.4598T>C (p.Leu1533Pro)
c.2723T>C (p.Leu908Pro)
c.4688T>C (p.Leu1563Pro)
c.4685T>C (p.Leu1562Pro)
c.4658T>C (p.Leu1553Pro)
c.4436T>C (p.Leu1479Pro)
c.4595T>C (p.Leu1532Pro)
c.4655T>C (p.Leu1552Pro)
4g.153636344T>GCA358506015TMEM131Lc.4601T>G (p.Leu1534Arg)
c.3932T>G (p.Leu1311Arg)
c.4598T>G (p.Leu1533Arg)
c.2723T>G (p.Leu908Arg)
c.4688T>G (p.Leu1563Arg)
c.4685T>G (p.Leu1562Arg)
c.4658T>G (p.Leu1553Arg)
c.4436T>G (p.Leu1479Arg)
c.4595T>G (p.Leu1532Arg)
c.4655T>G (p.Leu1552Arg)
4g.153636345T>ACA441799791TMEM131Lc.4602T>A (p.Leu1534=)
c.3933T>A (p.Leu1311=)
c.4599T>A (p.Leu1533=)
c.2724T>A (p.Leu908=)
c.4689T>A (p.Leu1563=)
c.4686T>A (p.Leu1562=)
c.4659T>A (p.Leu1553=)
c.4437T>A (p.Leu1479=)
c.4596T>A (p.Leu1532=)
c.4656T>A (p.Leu1552=)
4g.153636345T>CCA3110580TMEM131Lc.4602T>C (p.Leu1534=)
c.3933T>C (p.Leu1311=)
c.4599T>C (p.Leu1533=)
c.2724T>C (p.Leu908=)
c.4689T>C (p.Leu1563=)
c.4686T>C (p.Leu1562=)
c.4659T>C (p.Leu1553=)
c.4437T>C (p.Leu1479=)
c.4596T>C (p.Leu1532=)
c.4656T>C (p.Leu1552=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.153636345T>GCA441799792TMEM131Lc.4602T>G (p.Leu1534=)
c.3933T>G (p.Leu1311=)
c.4599T>G (p.Leu1533=)
c.2724T>G (p.Leu908=)
c.4689T>G (p.Leu1563=)
c.4686T>G (p.Leu1562=)
c.4659T>G (p.Leu1553=)
c.4437T>G (p.Leu1479=)
c.4596T>G (p.Leu1532=)
c.4656T>G (p.Leu1552=)
4g.153636345T=CA1504512148TMEM131Lc.4602T= (p.Leu1534=)
c.3933T= (p.Leu1311=)
c.4599T= (p.Leu1533=)
c.2724T= (p.Leu908=)
c.4689T= (p.Leu1563=)
c.4686T= (p.Leu1562=)
c.4659T= (p.Leu1553=)
c.4437T= (p.Leu1479=)
c.4596T= (p.Leu1532=)
c.4656T= (p.Leu1552=)
4g.153636346T>ACA358506020TMEM131Lc.4603T>A (p.Phe1535Ile)
c.3934T>A (p.Phe1312Ile)
c.4600T>A (p.Phe1534Ile)
c.2725T>A (p.Phe909Ile)
c.4690T>A (p.Phe1564Ile)
c.4687T>A (p.Phe1563Ile)
c.4660T>A (p.Phe1554Ile)
c.4438T>A (p.Phe1480Ile)
c.4597T>A (p.Phe1533Ile)
c.4657T>A (p.Phe1553Ile)
4g.153636346T>CCA358506022TMEM131Lc.4603T>C (p.Phe1535Leu)
c.3934T>C (p.Phe1312Leu)
c.4600T>C (p.Phe1534Leu)
c.2725T>C (p.Phe909Leu)
c.4690T>C (p.Phe1564Leu)
c.4687T>C (p.Phe1563Leu)
c.4660T>C (p.Phe1554Leu)
c.4438T>C (p.Phe1480Leu)
c.4597T>C (p.Phe1533Leu)
c.4657T>C (p.Phe1553Leu)
 dbSNP gnomAD v4
4g.153636346T>GCA358506023TMEM131Lc.4603T>G (p.Phe1535Val)
c.3934T>G (p.Phe1312Val)
c.4600T>G (p.Phe1534Val)
c.2725T>G (p.Phe909Val)
c.4690T>G (p.Phe1564Val)
c.4687T>G (p.Phe1563Val)
c.4660T>G (p.Phe1554Val)
c.4438T>G (p.Phe1480Val)
c.4597T>G (p.Phe1533Val)
c.4657T>G (p.Phe1553Val)
4g.153636346T=CA1504512149TMEM131Lc.4603T= (p.Phe1535=)
c.3934T= (p.Phe1312=)
c.4600T= (p.Phe1534=)
c.2725T= (p.Phe909=)
c.4690T= (p.Phe1564=)
c.4687T= (p.Phe1563=)
c.4660T= (p.Phe1554=)
c.4438T= (p.Phe1480=)
c.4597T= (p.Phe1533=)
c.4657T= (p.Phe1553=)
4g.153636347T>ACA358506026TMEM131Lc.4604T>A (p.Phe1535Tyr)
c.3935T>A (p.Phe1312Tyr)
c.4601T>A (p.Phe1534Tyr)
c.2726T>A (p.Phe909Tyr)
c.4691T>A (p.Phe1564Tyr)
c.4688T>A (p.Phe1563Tyr)
c.4661T>A (p.Phe1554Tyr)
c.4439T>A (p.Phe1480Tyr)
c.4598T>A (p.Phe1533Tyr)
c.4658T>A (p.Phe1553Tyr)
4g.153636347T>CCA358506028TMEM131Lc.4604T>C (p.Phe1535Ser)
c.3935T>C (p.Phe1312Ser)
c.4601T>C (p.Phe1534Ser)
c.2726T>C (p.Phe909Ser)
c.4691T>C (p.Phe1564Ser)
c.4688T>C (p.Phe1563Ser)
c.4661T>C (p.Phe1554Ser)
c.4439T>C (p.Phe1480Ser)
c.4598T>C (p.Phe1533Ser)
c.4658T>C (p.Phe1553Ser)
 gnomAD v4
4g.153636347T>GCA358506029TMEM131Lc.4604T>G (p.Phe1535Cys)
c.3935T>G (p.Phe1312Cys)
c.4601T>G (p.Phe1534Cys)
c.2726T>G (p.Phe909Cys)
c.4691T>G (p.Phe1564Cys)
c.4688T>G (p.Phe1563Cys)
c.4661T>G (p.Phe1554Cys)
c.4439T>G (p.Phe1480Cys)
c.4598T>G (p.Phe1533Cys)
c.4658T>G (p.Phe1553Cys)
4g.153636348T>ACA358506032TMEM131Lc.4605T>A (p.Phe1535Leu)
c.3936T>A (p.Phe1312Leu)
c.4602T>A (p.Phe1534Leu)
c.2727T>A (p.Phe909Leu)
c.4692T>A (p.Phe1564Leu)
c.4689T>A (p.Phe1563Leu)
c.4662T>A (p.Phe1554Leu)
c.4440T>A (p.Phe1480Leu)
c.4599T>A (p.Phe1533Leu)
c.4659T>A (p.Phe1553Leu)
4g.153636348T>CCA441799794TMEM131Lc.4605T>C (p.Phe1535=)
c.3936T>C (p.Phe1312=)
c.4602T>C (p.Phe1534=)
c.2727T>C (p.Phe909=)
c.4692T>C (p.Phe1564=)
c.4689T>C (p.Phe1563=)
c.4662T>C (p.Phe1554=)
c.4440T>C (p.Phe1480=)
c.4599T>C (p.Phe1533=)
c.4659T>C (p.Phe1553=)
4g.153636348T>GCA3110581TMEM131Lc.4605T>G (p.Phe1535Leu)
c.3936T>G (p.Phe1312Leu)
c.4602T>G (p.Phe1534Leu)
c.2727T>G (p.Phe909Leu)
c.4692T>G (p.Phe1564Leu)
c.4689T>G (p.Phe1563Leu)
c.4662T>G (p.Phe1554Leu)
c.4440T>G (p.Phe1480Leu)
c.4599T>G (p.Phe1533Leu)
c.4659T>G (p.Phe1553Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.153636348T=CA1504512150TMEM131Lc.4605T= (p.Phe1535=)
c.3936T= (p.Phe1312=)
c.4602T= (p.Phe1534=)
c.2727T= (p.Phe909=)
c.4692T= (p.Phe1564=)
c.4689T= (p.Phe1563=)
c.4662T= (p.Phe1554=)
c.4440T= (p.Phe1480=)
c.4599T= (p.Phe1533=)
c.4659T= (p.Phe1553=)
4g.153636349G>ACA358506035TMEM131Lc.4606G>A (p.Gly1536Ser)
c.3937G>A (p.Gly1313Ser)
c.4603G>A (p.Gly1535Ser)
c.2728G>A (p.Gly910Ser)
c.4693G>A (p.Gly1565Ser)
c.4690G>A (p.Gly1564Ser)
c.4663G>A (p.Gly1555Ser)
c.4441G>A (p.Gly1481Ser)
c.4600G>A (p.Gly1534Ser)
c.4660G>A (p.Gly1554Ser)
4g.153636349G>CCA358506037TMEM131Lc.4606G>C (p.Gly1536Arg)
c.3937G>C (p.Gly1313Arg)
c.4603G>C (p.Gly1535Arg)
c.2728G>C (p.Gly910Arg)
c.4693G>C (p.Gly1565Arg)
c.4690G>C (p.Gly1564Arg)
c.4663G>C (p.Gly1555Arg)
c.4441G>C (p.Gly1481Arg)
c.4600G>C (p.Gly1534Arg)
c.4660G>C (p.Gly1554Arg)
4g.153636349G>TCA358506038TMEM131Lc.4606G>T (p.Gly1536Cys)
c.3937G>T (p.Gly1313Cys)
c.4603G>T (p.Gly1535Cys)
c.2728G>T (p.Gly910Cys)
c.4693G>T (p.Gly1565Cys)
c.4690G>T (p.Gly1564Cys)
c.4663G>T (p.Gly1555Cys)
c.4441G>T (p.Gly1481Cys)
c.4600G>T (p.Gly1534Cys)
c.4660G>T (p.Gly1554Cys)
4g.153636350G>ACA358506039TMEM131Lc.4607G>A (p.Gly1536Asp)
c.3938G>A (p.Gly1313Asp)
c.4604G>A (p.Gly1535Asp)
c.2729G>A (p.Gly910Asp)
c.4694G>A (p.Gly1565Asp)
c.4691G>A (p.Gly1564Asp)
c.4664G>A (p.Gly1555Asp)
c.4442G>A (p.Gly1481Asp)
c.4601G>A (p.Gly1534Asp)
c.4661G>A (p.Gly1554Asp)
 dbSNP gnomAD v3 gnomAD v4
4g.153636350G>CCA358506043TMEM131Lc.4607G>C (p.Gly1536Ala)
c.3938G>C (p.Gly1313Ala)
c.4604G>C (p.Gly1535Ala)
c.2729G>C (p.Gly910Ala)
c.4694G>C (p.Gly1565Ala)
c.4691G>C (p.Gly1564Ala)
c.4664G>C (p.Gly1555Ala)
c.4442G>C (p.Gly1481Ala)
c.4601G>C (p.Gly1534Ala)
c.4661G>C (p.Gly1554Ala)
4g.153636350G=CA1504512151TMEM131Lc.4607G= (p.Gly1536=)
c.3938G= (p.Gly1313=)
c.4604G= (p.Gly1535=)
c.2729G= (p.Gly910=)
c.4694G= (p.Gly1565=)
c.4691G= (p.Gly1564=)
c.4664G= (p.Gly1555=)
c.4442G= (p.Gly1481=)
c.4601G= (p.Gly1534=)
c.4661G= (p.Gly1554=)
4g.153636350G>TCA358506041TMEM131Lc.4607G>T (p.Gly1536Val)
c.3938G>T (p.Gly1313Val)
c.4604G>T (p.Gly1535Val)
c.2729G>T (p.Gly910Val)
c.4694G>T (p.Gly1565Val)
c.4691G>T (p.Gly1564Val)
c.4664G>T (p.Gly1555Val)
c.4442G>T (p.Gly1481Val)
c.4601G>T (p.Gly1534Val)
c.4661G>T (p.Gly1554Val)
4g.153636351T>ACA441799795TMEM131Lc.4608T>A (p.Gly1536=)
c.3939T>A (p.Gly1313=)
c.4605T>A (p.Gly1535=)
c.2730T>A (p.Gly910=)
c.4695T>A (p.Gly1565=)
c.4692T>A (p.Gly1564=)
c.4665T>A (p.Gly1555=)
c.4443T>A (p.Gly1481=)
c.4602T>A (p.Gly1534=)
c.4662T>A (p.Gly1554=)
4g.153636351T>CCA441799796TMEM131Lc.4608T>C (p.Gly1536=)
c.3939T>C (p.Gly1313=)
c.4605T>C (p.Gly1535=)
c.2730T>C (p.Gly910=)
c.4695T>C (p.Gly1565=)
c.4692T>C (p.Gly1564=)
c.4665T>C (p.Gly1555=)
c.4443T>C (p.Gly1481=)
c.4602T>C (p.Gly1534=)
c.4662T>C (p.Gly1554=)
 COSMIC COSMIC
4g.153636351T>GCA441799797TMEM131Lc.4608T>G (p.Gly1536=)
c.3939T>G (p.Gly1313=)
c.4605T>G (p.Gly1535=)
c.2730T>G (p.Gly910=)
c.4695T>G (p.Gly1565=)
c.4692T>G (p.Gly1564=)
c.4665T>G (p.Gly1555=)
c.4443T>G (p.Gly1481=)
c.4602T>G (p.Gly1534=)
c.4662T>G (p.Gly1554=)
4g.153636352T>ACA358506045TMEM131Lc.4609T>A (p.Ser1537Thr)
c.3940T>A (p.Ser1314Thr)
c.4606T>A (p.Ser1536Thr)
c.2731T>A (p.Ser911Thr)
c.4696T>A (p.Ser1566Thr)
c.4693T>A (p.Ser1565Thr)
c.4666T>A (p.Ser1556Thr)
c.4444T>A (p.Ser1482Thr)
c.4603T>A (p.Ser1535Thr)
c.4663T>A (p.Ser1555Thr)
4g.153636352T>CCA358506047TMEM131Lc.4609T>C (p.Ser1537Pro)
c.3940T>C (p.Ser1314Pro)
c.4606T>C (p.Ser1536Pro)
c.2731T>C (p.Ser911Pro)
c.4696T>C (p.Ser1566Pro)
c.4693T>C (p.Ser1565Pro)
c.4666T>C (p.Ser1556Pro)
c.4444T>C (p.Ser1482Pro)
c.4603T>C (p.Ser1535Pro)
c.4663T>C (p.Ser1555Pro)
4g.153636352T>GCA358506049TMEM131Lc.4609T>G (p.Ser1537Ala)
c.3940T>G (p.Ser1314Ala)
c.4606T>G (p.Ser1536Ala)
c.2731T>G (p.Ser911Ala)
c.4696T>G (p.Ser1566Ala)
c.4693T>G (p.Ser1565Ala)
c.4666T>G (p.Ser1556Ala)
c.4444T>G (p.Ser1482Ala)
c.4603T>G (p.Ser1535Ala)
c.4663T>G (p.Ser1555Ala)
4g.153636353C>ACA358506051TMEM131Lc.4610C>A (p.Ser1537Tyr)
c.3941C>A (p.Ser1314Tyr)
c.4607C>A (p.Ser1536Tyr)
c.2732C>A (p.Ser911Tyr)
c.4697C>A (p.Ser1566Tyr)
c.4694C>A (p.Ser1565Tyr)
c.4667C>A (p.Ser1556Tyr)
c.4445C>A (p.Ser1482Tyr)
c.4604C>A (p.Ser1535Tyr)
c.4664C>A (p.Ser1555Tyr)
4g.153636353C=CA1504512152TMEM131Lc.4610C= (p.Ser1537=)
c.3941C= (p.Ser1314=)
c.4607C= (p.Ser1536=)
c.2732C= (p.Ser911=)
c.4697C= (p.Ser1566=)
c.4694C= (p.Ser1565=)
c.4667C= (p.Ser1556=)
c.4445C= (p.Ser1482=)
c.4604C= (p.Ser1535=)
c.4664C= (p.Ser1555=)
4g.153636353C>GCA358506052TMEM131Lc.4610C>G (p.Ser1537Cys)
c.3941C>G (p.Ser1314Cys)
c.4607C>G (p.Ser1536Cys)
c.2732C>G (p.Ser911Cys)
c.4697C>G (p.Ser1566Cys)
c.4694C>G (p.Ser1565Cys)
c.4667C>G (p.Ser1556Cys)
c.4445C>G (p.Ser1482Cys)
c.4604C>G (p.Ser1535Cys)
c.4664C>G (p.Ser1555Cys)
4g.153636353C>TCA107951338TMEM131Lc.4610C>T (p.Ser1537Phe)
c.3941C>T (p.Ser1314Phe)
c.4607C>T (p.Ser1536Phe)
c.2732C>T (p.Ser911Phe)
c.4697C>T (p.Ser1566Phe)
c.4694C>T (p.Ser1565Phe)
c.4667C>T (p.Ser1556Phe)
c.4445C>T (p.Ser1482Phe)
c.4604C>T (p.Ser1535Phe)
c.4664C>T (p.Ser1555Phe)
 dbSNP
4g.153636354C>ACA441799798TMEM131Lc.4611C>A (p.Ser1537=)
c.3942C>A (p.Ser1314=)
c.4608C>A (p.Ser1536=)
c.2733C>A (p.Ser911=)
c.4698C>A (p.Ser1566=)
c.4695C>A (p.Ser1565=)
c.4668C>A (p.Ser1556=)
c.4446C>A (p.Ser1482=)
c.4605C>A (p.Ser1535=)
c.4665C>A (p.Ser1555=)
4g.153636354C=CA1504512153TMEM131Lc.4611C= (p.Ser1537=)
c.3942C= (p.Ser1314=)
c.4608C= (p.Ser1536=)
c.2733C= (p.Ser911=)
c.4698C= (p.Ser1566=)
c.4695C= (p.Ser1565=)
c.4668C= (p.Ser1556=)
c.4446C= (p.Ser1482=)
c.4605C= (p.Ser1535=)
c.4665C= (p.Ser1555=)
4g.153636354C>GCA441799799TMEM131Lc.4611C>G (p.Ser1537=)
c.3942C>G (p.Ser1314=)
c.4608C>G (p.Ser1536=)
c.2733C>G (p.Ser911=)
c.4698C>G (p.Ser1566=)
c.4695C>G (p.Ser1565=)
c.4668C>G (p.Ser1556=)
c.4446C>G (p.Ser1482=)
c.4605C>G (p.Ser1535=)
c.4665C>G (p.Ser1555=)
4g.153636354C>TCA3110582TMEM131Lc.4611C>T (p.Ser1537=)
c.3942C>T (p.Ser1314=)
c.4608C>T (p.Ser1536=)
c.2733C>T (p.Ser911=)
c.4698C>T (p.Ser1566=)
c.4695C>T (p.Ser1565=)
c.4668C>T (p.Ser1556=)
c.4446C>T (p.Ser1482=)
c.4605C>T (p.Ser1535=)
c.4665C>T (p.Ser1555=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.153636355A>CCA358506057TMEM131Lc.4612A>C (p.Ile1538Leu)
c.3943A>C (p.Ile1315Leu)
c.4609A>C (p.Ile1537Leu)
c.2734A>C (p.Ile912Leu)
c.4699A>C (p.Ile1567Leu)
c.4696A>C (p.Ile1566Leu)
c.4669A>C (p.Ile1557Leu)
c.4447A>C (p.Ile1483Leu)
c.4606A>C (p.Ile1536Leu)
c.4666A>C (p.Ile1556Leu)
 gnomAD v4
4g.153636355A>GCA358506059TMEM131Lc.4612A>G (p.Ile1538Val)
c.3943A>G (p.Ile1315Val)
c.4609A>G (p.Ile1537Val)
c.2734A>G (p.Ile912Val)
c.4699A>G (p.Ile1567Val)
c.4696A>G (p.Ile1566Val)
c.4669A>G (p.Ile1557Val)
c.4447A>G (p.Ile1483Val)
c.4606A>G (p.Ile1536Val)
c.4666A>G (p.Ile1556Val)
4g.153636355A>TCA358506060TMEM131Lc.4612A>T (p.Ile1538Phe)
c.3943A>T (p.Ile1315Phe)
c.4609A>T (p.Ile1537Phe)
c.2734A>T (p.Ile912Phe)
c.4699A>T (p.Ile1567Phe)
c.4696A>T (p.Ile1566Phe)
c.4669A>T (p.Ile1557Phe)
c.4447A>T (p.Ile1483Phe)
c.4606A>T (p.Ile1536Phe)
c.4666A>T (p.Ile1556Phe)
4g.153636356T>ACA358506063TMEM131Lc.4613T>A (p.Ile1538Asn)
c.3944T>A (p.Ile1315Asn)
c.4610T>A (p.Ile1537Asn)
c.2735T>A (p.Ile912Asn)
c.4700T>A (p.Ile1567Asn)
c.4697T>A (p.Ile1566Asn)
c.4670T>A (p.Ile1557Asn)
c.4448T>A (p.Ile1483Asn)
c.4607T>A (p.Ile1536Asn)
c.4667T>A (p.Ile1556Asn)
4g.153636356T>CCA358506065TMEM131Lc.4613T>C (p.Ile1538Thr)
c.3944T>C (p.Ile1315Thr)
c.4610T>C (p.Ile1537Thr)
c.2735T>C (p.Ile912Thr)
c.4700T>C (p.Ile1567Thr)
c.4697T>C (p.Ile1566Thr)
c.4670T>C (p.Ile1557Thr)
c.4448T>C (p.Ile1483Thr)
c.4607T>C (p.Ile1536Thr)
c.4667T>C (p.Ile1556Thr)
4g.153636356T>GCA358506066TMEM131Lc.4613T>G (p.Ile1538Ser)
c.3944T>G (p.Ile1315Ser)
c.4610T>G (p.Ile1537Ser)
c.2735T>G (p.Ile912Ser)
c.4700T>G (p.Ile1567Ser)
c.4697T>G (p.Ile1566Ser)
c.4670T>G (p.Ile1557Ser)
c.4448T>G (p.Ile1483Ser)
c.4607T>G (p.Ile1536Ser)
c.4667T>G (p.Ile1556Ser)
4g.153636357C>ACA441799800TMEM131Lc.4614C>A (p.Ile1538=)
c.3945C>A (p.Ile1315=)
c.4611C>A (p.Ile1537=)
c.2736C>A (p.Ile912=)
c.4701C>A (p.Ile1567=)
c.4698C>A (p.Ile1566=)
c.4671C>A (p.Ile1557=)
c.4449C>A (p.Ile1483=)
c.4608C>A (p.Ile1536=)
c.4668C>A (p.Ile1556=)
4g.153636357C>GCA358506069TMEM131Lc.4614C>G (p.Ile1538Met)
c.3945C>G (p.Ile1315Met)
c.4611C>G (p.Ile1537Met)
c.2736C>G (p.Ile912Met)
c.4701C>G (p.Ile1567Met)
c.4698C>G (p.Ile1566Met)
c.4671C>G (p.Ile1557Met)
c.4449C>G (p.Ile1483Met)
c.4608C>G (p.Ile1536Met)
c.4668C>G (p.Ile1556Met)
4g.153636357C>TCA441799801TMEM131Lc.4614C>T (p.Ile1538=)
c.3945C>T (p.Ile1315=)
c.4611C>T (p.Ile1537=)
c.2736C>T (p.Ile912=)
c.4701C>T (p.Ile1567=)
c.4698C>T (p.Ile1566=)
c.4671C>T (p.Ile1557=)
c.4449C>T (p.Ile1483=)
c.4608C>T (p.Ile1536=)
c.4668C>T (p.Ile1556=)
4g.153636358_153636372delCA2672415880TMEM131Lc.4615_4629del (p.Trp1539_Ser1543del)
c.3946_3960del (p.Trp1316_Ser1320del)
c.4612_4626del (p.Trp1538_Ser1542del)
c.2737_2751del (p.Trp913_Ser917del)
c.4702_4716del (p.Trp1568_Ser1572del)
c.4699_4713del (p.Trp1567_Ser1571del)
c.4672_4686del (p.Trp1558_Ser1562del)
c.4450_4464del (p.Trp1484_Ser1488del)
c.4609_4623del (p.Trp1537_Ser1541del)
c.4669_4683del (p.Trp1557_Ser1561del)
 gnomAD v4
4g.153636358T>ACA358506070TMEM131Lc.4615T>A (p.Trp1539Arg)
c.3946T>A (p.Trp1316Arg)
c.4612T>A (p.Trp1538Arg)
c.2737T>A (p.Trp913Arg)
c.4702T>A (p.Trp1568Arg)
c.4699T>A (p.Trp1567Arg)
c.4672T>A (p.Trp1558Arg)
c.4450T>A (p.Trp1484Arg)
c.4609T>A (p.Trp1537Arg)
c.4669T>A (p.Trp1557Arg)
4g.153636358T>CCA358506072TMEM131Lc.4615T>C (p.Trp1539Arg)
c.3946T>C (p.Trp1316Arg)
c.4612T>C (p.Trp1538Arg)
c.2737T>C (p.Trp913Arg)
c.4702T>C (p.Trp1568Arg)
c.4699T>C (p.Trp1567Arg)
c.4672T>C (p.Trp1558Arg)
c.4450T>C (p.Trp1484Arg)
c.4609T>C (p.Trp1537Arg)
c.4669T>C (p.Trp1557Arg)
4g.153636358T>GCA358506074TMEM131Lc.4615T>G (p.Trp1539Gly)
c.3946T>G (p.Trp1316Gly)
c.4612T>G (p.Trp1538Gly)
c.2737T>G (p.Trp913Gly)
c.4702T>G (p.Trp1568Gly)
c.4699T>G (p.Trp1567Gly)
c.4672T>G (p.Trp1558Gly)
c.4450T>G (p.Trp1484Gly)
c.4609T>G (p.Trp1537Gly)
c.4669T>G (p.Trp1557Gly)
4g.153636359G>ACA358506076TMEM131Lc.4616G>A (p.Trp1539Ter)
c.3947G>A (p.Trp1316Ter)
c.4613G>A (p.Trp1538Ter)
c.2738G>A (p.Trp913Ter)
c.4703G>A (p.Trp1568Ter)
c.4700G>A (p.Trp1567Ter)
c.4673G>A (p.Trp1558Ter)
c.4451G>A (p.Trp1484Ter)
c.4610G>A (p.Trp1537Ter)
c.4670G>A (p.Trp1557Ter)
4g.153636359G>CCA358506078TMEM131Lc.4616G>C (p.Trp1539Ser)
c.3947G>C (p.Trp1316Ser)
c.4613G>C (p.Trp1538Ser)
c.2738G>C (p.Trp913Ser)
c.4703G>C (p.Trp1568Ser)
c.4700G>C (p.Trp1567Ser)
c.4673G>C (p.Trp1558Ser)
c.4451G>C (p.Trp1484Ser)
c.4610G>C (p.Trp1537Ser)
c.4670G>C (p.Trp1557Ser)
4g.153636359G>TCA358506080TMEM131Lc.4616G>T (p.Trp1539Leu)
c.3947G>T (p.Trp1316Leu)
c.4613G>T (p.Trp1538Leu)
c.2738G>T (p.Trp913Leu)
c.4703G>T (p.Trp1568Leu)
c.4700G>T (p.Trp1567Leu)
c.4673G>T (p.Trp1558Leu)
c.4451G>T (p.Trp1484Leu)
c.4610G>T (p.Trp1537Leu)
c.4670G>T (p.Trp1557Leu)
4g.153636360G>ACA358506082TMEM131Lc.4617G>A (p.Trp1539Ter)
c.3948G>A (p.Trp1316Ter)
c.4614G>A (p.Trp1538Ter)
c.2739G>A (p.Trp913Ter)
c.4704G>A (p.Trp1568Ter)
c.4701G>A (p.Trp1567Ter)
c.4674G>A (p.Trp1558Ter)
c.4452G>A (p.Trp1484Ter)
c.4611G>A (p.Trp1537Ter)
c.4671G>A (p.Trp1557Ter)
4g.153636360G>CCA358506083TMEM131Lc.4617G>C (p.Trp1539Cys)
c.3948G>C (p.Trp1316Cys)
c.4614G>C (p.Trp1538Cys)
c.2739G>C (p.Trp913Cys)
c.4704G>C (p.Trp1568Cys)
c.4701G>C (p.Trp1567Cys)
c.4674G>C (p.Trp1558Cys)
c.4452G>C (p.Trp1484Cys)
c.4611G>C (p.Trp1537Cys)
c.4671G>C (p.Trp1557Cys)
4g.153636360G>TCA358506085TMEM131Lc.4617G>T (p.Trp1539Cys)
c.3948G>T (p.Trp1316Cys)
c.4614G>T (p.Trp1538Cys)
c.2739G>T (p.Trp913Cys)
c.4704G>T (p.Trp1568Cys)
c.4701G>T (p.Trp1567Cys)
c.4674G>T (p.Trp1558Cys)
c.4452G>T (p.Trp1484Cys)
c.4611G>T (p.Trp1537Cys)
c.4671G>T (p.Trp1557Cys)
4g.153636361G>ACA358506087TMEM131Lc.4618G>A (p.Ala1540Thr)
c.3949G>A (p.Ala1317Thr)
c.4615G>A (p.Ala1539Thr)
c.2740G>A (p.Ala914Thr)
c.4705G>A (p.Ala1569Thr)
c.4702G>A (p.Ala1568Thr)
c.4675G>A (p.Ala1559Thr)
c.4453G>A (p.Ala1485Thr)
c.4612G>A (p.Ala1538Thr)
c.4672G>A (p.Ala1558Thr)
 gnomAD v4
4g.153636361G>CCA358506088TMEM131Lc.4618G>C (p.Ala1540Pro)
c.3949G>C (p.Ala1317Pro)
c.4615G>C (p.Ala1539Pro)
c.2740G>C (p.Ala914Pro)
c.4705G>C (p.Ala1569Pro)
c.4702G>C (p.Ala1568Pro)
c.4675G>C (p.Ala1559Pro)
c.4453G>C (p.Ala1485Pro)
c.4612G>C (p.Ala1538Pro)
c.4672G>C (p.Ala1558Pro)
4g.153636361G>TCA358506090TMEM131Lc.4618G>T (p.Ala1540Ser)
c.3949G>T (p.Ala1317Ser)
c.4615G>T (p.Ala1539Ser)
c.2740G>T (p.Ala914Ser)
c.4705G>T (p.Ala1569Ser)
c.4702G>T (p.Ala1568Ser)
c.4675G>T (p.Ala1559Ser)
c.4453G>T (p.Ala1485Ser)
c.4612G>T (p.Ala1538Ser)
c.4672G>T (p.Ala1558Ser)
 COSMIC COSMIC
4g.153636362C>ACA358506092TMEM131Lc.4619C>A (p.Ala1540Asp)
c.3950C>A (p.Ala1317Asp)
c.4616C>A (p.Ala1539Asp)
c.2741C>A (p.Ala914Asp)
c.4706C>A (p.Ala1569Asp)
c.4703C>A (p.Ala1568Asp)
c.4676C>A (p.Ala1559Asp)
c.4454C>A (p.Ala1485Asp)
c.4613C>A (p.Ala1538Asp)
c.4673C>A (p.Ala1558Asp)
4g.153636362C>GCA358506096TMEM131Lc.4619C>G (p.Ala1540Gly)
c.3950C>G (p.Ala1317Gly)
c.4616C>G (p.Ala1539Gly)
c.2741C>G (p.Ala914Gly)
c.4706C>G (p.Ala1569Gly)
c.4703C>G (p.Ala1568Gly)
c.4676C>G (p.Ala1559Gly)
c.4454C>G (p.Ala1485Gly)
c.4613C>G (p.Ala1538Gly)
c.4673C>G (p.Ala1558Gly)
4g.153636362C>TCA358506094TMEM131Lc.4619C>T (p.Ala1540Val)
c.3950C>T (p.Ala1317Val)
c.4616C>T (p.Ala1539Val)
c.2741C>T (p.Ala914Val)
c.4706C>T (p.Ala1569Val)
c.4703C>T (p.Ala1568Val)
c.4676C>T (p.Ala1559Val)
c.4454C>T (p.Ala1485Val)
c.4613C>T (p.Ala1538Val)
c.4673C>T (p.Ala1558Val)
4g.153636363C>ACA441799802TMEM131Lc.4620C>A (p.Ala1540=)
c.3951C>A (p.Ala1317=)
c.4617C>A (p.Ala1539=)
c.2742C>A (p.Ala914=)
c.4707C>A (p.Ala1569=)
c.4704C>A (p.Ala1568=)
c.4677C>A (p.Ala1559=)
c.4455C>A (p.Ala1485=)
c.4614C>A (p.Ala1538=)
c.4674C>A (p.Ala1558=)
 gnomAD v4
4g.153636363C>GCA441799803TMEM131Lc.4620C>G (p.Ala1540=)
c.3951C>G (p.Ala1317=)
c.4617C>G (p.Ala1539=)
c.2742C>G (p.Ala914=)
c.4707C>G (p.Ala1569=)
c.4704C>G (p.Ala1568=)
c.4677C>G (p.Ala1559=)
c.4455C>G (p.Ala1485=)
c.4614C>G (p.Ala1538=)
c.4674C>G (p.Ala1558=)
4g.153636363C>TCA441799804TMEM131Lc.4620C>T (p.Ala1540=)
c.3951C>T (p.Ala1317=)
c.4617C>T (p.Ala1539=)
c.2742C>T (p.Ala914=)
c.4707C>T (p.Ala1569=)
c.4704C>T (p.Ala1568=)
c.4677C>T (p.Ala1559=)
c.4455C>T (p.Ala1485=)
c.4614C>T (p.Ala1538=)
c.4674C>T (p.Ala1558=)
4g.153636364C>ACA358506098TMEM131Lc.4621C>A (p.Pro1541Thr)
c.3952C>A (p.Pro1318Thr)
c.4618C>A (p.Pro1540Thr)
c.2743C>A (p.Pro915Thr)
c.4708C>A (p.Pro1570Thr)
c.4705C>A (p.Pro1569Thr)
c.4678C>A (p.Pro1560Thr)
c.4456C>A (p.Pro1486Thr)
c.4615C>A (p.Pro1539Thr)
c.4675C>A (p.Pro1559Thr)
4g.153636364C>GCA358506101TMEM131Lc.4621C>G (p.Pro1541Ala)
c.3952C>G (p.Pro1318Ala)
c.4618C>G (p.Pro1540Ala)
c.2743C>G (p.Pro915Ala)
c.4708C>G (p.Pro1570Ala)
c.4705C>G (p.Pro1569Ala)
c.4678C>G (p.Pro1560Ala)
c.4456C>G (p.Pro1486Ala)
c.4615C>G (p.Pro1539Ala)
c.4675C>G (p.Pro1559Ala)
4g.153636364C>TCA358506099TMEM131Lc.4621C>T (p.Pro1541Ser)
c.3952C>T (p.Pro1318Ser)
c.4618C>T (p.Pro1540Ser)
c.2743C>T (p.Pro915Ser)
c.4708C>T (p.Pro1570Ser)
c.4705C>T (p.Pro1569Ser)
c.4678C>T (p.Pro1560Ser)
c.4456C>T (p.Pro1486Ser)
c.4615C>T (p.Pro1539Ser)
c.4675C>T (p.Pro1559Ser)
4g.153636365C>ACA358506104TMEM131Lc.4622C>A (p.Pro1541Gln)
c.3953C>A (p.Pro1318Gln)
c.4619C>A (p.Pro1540Gln)
c.2744C>A (p.Pro915Gln)
c.4709C>A (p.Pro1570Gln)
c.4706C>A (p.Pro1569Gln)
c.4679C>A (p.Pro1560Gln)
c.4457C>A (p.Pro1486Gln)
c.4616C>A (p.Pro1539Gln)
c.4676C>A (p.Pro1559Gln)
4g.153636365C>GCA358506105TMEM131Lc.4622C>G (p.Pro1541Arg)
c.3953C>G (p.Pro1318Arg)
c.4619C>G (p.Pro1540Arg)
c.2744C>G (p.Pro915Arg)
c.4709C>G (p.Pro1570Arg)
c.4706C>G (p.Pro1569Arg)
c.4679C>G (p.Pro1560Arg)
c.4457C>G (p.Pro1486Arg)
c.4616C>G (p.Pro1539Arg)
c.4676C>G (p.Pro1559Arg)
4g.153636365C>TCA358506107TMEM131Lc.4622C>T (p.Pro1541Leu)
c.3953C>T (p.Pro1318Leu)
c.4619C>T (p.Pro1540Leu)
c.2744C>T (p.Pro915Leu)
c.4709C>T (p.Pro1570Leu)
c.4706C>T (p.Pro1569Leu)
c.4679C>T (p.Pro1560Leu)
c.4457C>T (p.Pro1486Leu)
c.4616C>T (p.Pro1539Leu)
c.4676C>T (p.Pro1559Leu)
 gnomAD v4
4g.153636366G>ACA3110583TMEM131Lc.4623G>A (p.Pro1541=)
c.3954G>A (p.Pro1318=)
c.4620G>A (p.Pro1540=)
c.2745G>A (p.Pro915=)
c.4710G>A (p.Pro1570=)
c.4707G>A (p.Pro1569=)
c.4680G>A (p.Pro1560=)
c.4458G>A (p.Pro1486=)
c.4617G>A (p.Pro1539=)
c.4677G>A (p.Pro1559=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.153636366G>CCA441799805TMEM131Lc.4623G>C (p.Pro1541=)
c.3954G>C (p.Pro1318=)
c.4620G>C (p.Pro1540=)
c.2745G>C (p.Pro915=)
c.4710G>C (p.Pro1570=)
c.4707G>C (p.Pro1569=)
c.4680G>C (p.Pro1560=)
c.4458G>C (p.Pro1486=)
c.4617G>C (p.Pro1539=)
c.4677G>C (p.Pro1559=)
4g.153636366G=CA1504512154TMEM131Lc.4623G= (p.Pro1541=)
c.3954G= (p.Pro1318=)
c.4620G= (p.Pro1540=)
c.2745G= (p.Pro915=)
c.4710G= (p.Pro1570=)
c.4707G= (p.Pro1569=)
c.4680G= (p.Pro1560=)
c.4458G= (p.Pro1486=)
c.4617G= (p.Pro1539=)
c.4677G= (p.Pro1559=)
4g.153636366G>TCA3110584TMEM131Lc.4623G>T (p.Pro1541=)
c.3954G>T (p.Pro1318=)
c.4620G>T (p.Pro1540=)
c.2745G>T (p.Pro915=)
c.4710G>T (p.Pro1570=)
c.4707G>T (p.Pro1569=)
c.4680G>T (p.Pro1560=)
c.4458G>T (p.Pro1486=)
c.4617G>T (p.Pro1539=)
c.4677G>T (p.Pro1559=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.153636367C>ACA358506109TMEM131Lc.4624C>A (p.Gln1542Lys)
c.3955C>A (p.Gln1319Lys)
c.4621C>A (p.Gln1541Lys)
c.2746C>A (p.Gln916Lys)
c.4711C>A (p.Gln1571Lys)
c.4708C>A (p.Gln1570Lys)
c.4681C>A (p.Gln1561Lys)
c.4459C>A (p.Gln1487Lys)
c.4618C>A (p.Gln1540Lys)
c.4678C>A (p.Gln1560Lys)
4g.153636367C>GCA358506110TMEM131Lc.4624C>G (p.Gln1542Glu)
c.3955C>G (p.Gln1319Glu)
c.4621C>G (p.Gln1541Glu)
c.2746C>G (p.Gln916Glu)
c.4711C>G (p.Gln1571Glu)
c.4708C>G (p.Gln1570Glu)
c.4681C>G (p.Gln1561Glu)
c.4459C>G (p.Gln1487Glu)
c.4618C>G (p.Gln1540Glu)
c.4678C>G (p.Gln1560Glu)
4g.153636367C>TCA358506112TMEM131Lc.4624C>T (p.Gln1542Ter)
c.3955C>T (p.Gln1319Ter)
c.4621C>T (p.Gln1541Ter)
c.2746C>T (p.Gln916Ter)
c.4711C>T (p.Gln1571Ter)
c.4708C>T (p.Gln1570Ter)
c.4681C>T (p.Gln1561Ter)
c.4459C>T (p.Gln1487Ter)
c.4618C>T (p.Gln1540Ter)
c.4678C>T (p.Gln1560Ter)
4g.153636368A>CCA358506114TMEM131Lc.4625A>C (p.Gln1542Pro)
c.3956A>C (p.Gln1319Pro)
c.4622A>C (p.Gln1541Pro)
c.2747A>C (p.Gln916Pro)
c.4712A>C (p.Gln1571Pro)
c.4709A>C (p.Gln1570Pro)
c.4682A>C (p.Gln1561Pro)
c.4460A>C (p.Gln1487Pro)
c.4619A>C (p.Gln1540Pro)
c.4679A>C (p.Gln1560Pro)
4g.153636368A>GCA358506115TMEM131Lc.4625A>G (p.Gln1542Arg)
c.3956A>G (p.Gln1319Arg)
c.4622A>G (p.Gln1541Arg)
c.2747A>G (p.Gln916Arg)
c.4712A>G (p.Gln1571Arg)
c.4709A>G (p.Gln1570Arg)
c.4682A>G (p.Gln1561Arg)
c.4460A>G (p.Gln1487Arg)
c.4619A>G (p.Gln1540Arg)
c.4679A>G (p.Gln1560Arg)
 gnomAD v4
4g.153636368A>TCA358506118TMEM131Lc.4625A>T (p.Gln1542Leu)
c.3956A>T (p.Gln1319Leu)
c.4622A>T (p.Gln1541Leu)
c.2747A>T (p.Gln916Leu)
c.4712A>T (p.Gln1571Leu)
c.4709A>T (p.Gln1570Leu)
c.4682A>T (p.Gln1561Leu)
c.4460A>T (p.Gln1487Leu)
c.4619A>T (p.Gln1540Leu)
c.4679A>T (p.Gln1560Leu)
4g.153636369A>CCA358506120TMEM131Lc.4626A>C (p.Gln1542His)
c.3957A>C (p.Gln1319His)
c.4623A>C (p.Gln1541His)
c.2748A>C (p.Gln916His)
c.4713A>C (p.Gln1571His)
c.4710A>C (p.Gln1570His)
c.4683A>C (p.Gln1561His)
c.4461A>C (p.Gln1487His)
c.4620A>C (p.Gln1540His)
c.4680A>C (p.Gln1560His)
4g.153636369A>GCA441799806TMEM131Lc.4626A>G (p.Gln1542=)
c.3957A>G (p.Gln1319=)
c.4623A>G (p.Gln1541=)
c.2748A>G (p.Gln916=)
c.4713A>G (p.Gln1571=)
c.4710A>G (p.Gln1570=)
c.4683A>G (p.Gln1561=)
c.4461A>G (p.Gln1487=)
c.4620A>G (p.Gln1540=)
c.4680A>G (p.Gln1560=)
4g.153636369A>TCA358506121TMEM131Lc.4626A>T (p.Gln1542His)
c.3957A>T (p.Gln1319His)
c.4623A>T (p.Gln1541His)
c.2748A>T (p.Gln916His)
c.4713A>T (p.Gln1571His)
c.4710A>T (p.Gln1570His)
c.4683A>T (p.Gln1561His)
c.4461A>T (p.Gln1487His)
c.4620A>T (p.Gln1540His)
c.4680A>T (p.Gln1560His)
4g.153636370A>CCA358506127TMEM131Lc.4627A>C (p.Ser1543Arg)
c.3958A>C (p.Ser1320Arg)
c.4624A>C (p.Ser1542Arg)
c.2749A>C (p.Ser917Arg)
c.4714A>C (p.Ser1572Arg)
c.4711A>C (p.Ser1571Arg)
c.4684A>C (p.Ser1562Arg)
c.4462A>C (p.Ser1488Arg)
c.4621A>C (p.Ser1541Arg)
c.4681A>C (p.Ser1561Arg)
4g.153636370A>GCA358506125TMEM131Lc.4627A>G (p.Ser1543Gly)
c.3958A>G (p.Ser1320Gly)
c.4624A>G (p.Ser1542Gly)
c.2749A>G (p.Ser917Gly)
c.4714A>G (p.Ser1572Gly)
c.4711A>G (p.Ser1571Gly)
c.4684A>G (p.Ser1562Gly)
c.4462A>G (p.Ser1488Gly)
c.4621A>G (p.Ser1541Gly)
c.4681A>G (p.Ser1561Gly)
4g.153636370A>TCA358506124TMEM131Lc.4627A>T (p.Ser1543Cys)
c.3958A>T (p.Ser1320Cys)
c.4624A>T (p.Ser1542Cys)
c.2749A>T (p.Ser917Cys)
c.4714A>T (p.Ser1572Cys)
c.4711A>T (p.Ser1571Cys)
c.4684A>T (p.Ser1562Cys)
c.4462A>T (p.Ser1488Cys)
c.4621A>T (p.Ser1541Cys)
c.4681A>T (p.Ser1561Cys)
4g.153636371G>ACA3110585TMEM131Lc.4628G>A (p.Ser1543Asn)
c.3959G>A (p.Ser1320Asn)
c.4625G>A (p.Ser1542Asn)
c.2750G>A (p.Ser917Asn)
c.4715G>A (p.Ser1572Asn)
c.4712G>A (p.Ser1571Asn)
c.4685G>A (p.Ser1562Asn)
c.4463G>A (p.Ser1488Asn)
c.4622G>A (p.Ser1541Asn)
c.4682G>A (p.Ser1561Asn)
 dbSNP ExAC gnomAD v4
4g.153636371G>CCA358506130TMEM131Lc.4628G>C (p.Ser1543Thr)
c.3959G>C (p.Ser1320Thr)
c.4625G>C (p.Ser1542Thr)
c.2750G>C (p.Ser917Thr)
c.4715G>C (p.Ser1572Thr)
c.4712G>C (p.Ser1571Thr)
c.4685G>C (p.Ser1562Thr)
c.4463G>C (p.Ser1488Thr)
c.4622G>C (p.Ser1541Thr)
c.4682G>C (p.Ser1561Thr)
4g.153636371G=CA1504512155TMEM131Lc.4628G= (p.Ser1543=)
c.3959G= (p.Ser1320=)
c.4625G= (p.Ser1542=)
c.2750G= (p.Ser917=)
c.4715G= (p.Ser1572=)
c.4712G= (p.Ser1571=)
c.4685G= (p.Ser1562=)
c.4463G= (p.Ser1488=)
c.4622G= (p.Ser1541=)
c.4682G= (p.Ser1561=)
4g.153636371G>TCA358506132TMEM131Lc.4628G>T (p.Ser1543Ile)
c.3959G>T (p.Ser1320Ile)
c.4625G>T (p.Ser1542Ile)
c.2750G>T (p.Ser917Ile)
c.4715G>T (p.Ser1572Ile)
c.4712G>T (p.Ser1571Ile)
c.4685G>T (p.Ser1562Ile)
c.4463G>T (p.Ser1488Ile)
c.4622G>T (p.Ser1541Ile)
c.4682G>T (p.Ser1561Ile)
 gnomAD v4
4g.153636372C>ACA358506134TMEM131Lc.4629C>A (p.Ser1543Arg)
c.3960C>A (p.Ser1320Arg)
c.4626C>A (p.Ser1542Arg)
c.2751C>A (p.Ser917Arg)
c.4716C>A (p.Ser1572Arg)
c.4713C>A (p.Ser1571Arg)
c.4686C>A (p.Ser1562Arg)
c.4464C>A (p.Ser1488Arg)
c.4623C>A (p.Ser1541Arg)
c.4683C>A (p.Ser1561Arg)
4g.153636372C=CA1504512156TMEM131Lc.4629C= (p.Ser1543=)
c.3960C= (p.Ser1320=)
c.4626C= (p.Ser1542=)
c.2751C= (p.Ser917=)
c.4716C= (p.Ser1572=)
c.4713C= (p.Ser1571=)
c.4686C= (p.Ser1562=)
c.4464C= (p.Ser1488=)
c.4623C= (p.Ser1541=)
c.4683C= (p.Ser1561=)
4g.153636372C>GCA358506136TMEM131Lc.4629C>G (p.Ser1543Arg)
c.3960C>G (p.Ser1320Arg)
c.4626C>G (p.Ser1542Arg)
c.2751C>G (p.Ser917Arg)
c.4716C>G (p.Ser1572Arg)
c.4713C>G (p.Ser1571Arg)
c.4686C>G (p.Ser1562Arg)
c.4464C>G (p.Ser1488Arg)
c.4623C>G (p.Ser1541Arg)
c.4683C>G (p.Ser1561Arg)
4g.153636372C>TCA107951344TMEM131Lc.4629C>T (p.Ser1543=)
c.3960C>T (p.Ser1320=)
c.4626C>T (p.Ser1542=)
c.2751C>T (p.Ser917=)
c.4716C>T (p.Ser1572=)
c.4713C>T (p.Ser1571=)
c.4686C>T (p.Ser1562=)
c.4464C>T (p.Ser1488=)
c.4623C>T (p.Ser1541=)
c.4683C>T (p.Ser1561=)
 dbSNP gnomAD v4
4g.153636373G>ACA358506139TMEM131Lc.4630G>A (p.Asp1544Asn)
c.3961G>A (p.Asp1321Asn)
c.4627G>A (p.Asp1543Asn)
c.2752G>A (p.Asp918Asn)
c.4717G>A (p.Asp1573Asn)
c.4714G>A (p.Asp1572Asn)
c.4687G>A (p.Asp1563Asn)
c.4465G>A (p.Asp1489Asn)
c.4624G>A (p.Asp1542Asn)
c.4684G>A (p.Asp1562Asn)
 dbSNP gnomAD v2 gnomAD v4
4g.153636373G>CCA358506141TMEM131Lc.4630G>C (p.Asp1544His)
c.3961G>C (p.Asp1321His)
c.4627G>C (p.Asp1543His)
c.2752G>C (p.Asp918His)
c.4717G>C (p.Asp1573His)
c.4714G>C (p.Asp1572His)
c.4687G>C (p.Asp1563His)
c.4465G>C (p.Asp1489His)
c.4624G>C (p.Asp1542His)
c.4684G>C (p.Asp1562His)
4g.153636373G=CA1504512157TMEM131Lc.4630G= (p.Asp1544=)
c.3961G= (p.Asp1321=)
c.4627G= (p.Asp1543=)
c.2752G= (p.Asp918=)
c.4717G= (p.Asp1573=)
c.4714G= (p.Asp1572=)
c.4687G= (p.Asp1563=)
c.4465G= (p.Asp1489=)
c.4624G= (p.Asp1542=)
c.4684G= (p.Asp1562=)
4g.153636373G>TCA358506142TMEM131Lc.4630G>T (p.Asp1544Tyr)
c.3961G>T (p.Asp1321Tyr)
c.4627G>T (p.Asp1543Tyr)
c.2752G>T (p.Asp918Tyr)
c.4717G>T (p.Asp1573Tyr)
c.4714G>T (p.Asp1572Tyr)
c.4687G>T (p.Asp1563Tyr)
c.4465G>T (p.Asp1489Tyr)
c.4624G>T (p.Asp1542Tyr)
c.4684G>T (p.Asp1562Tyr)
4g.153636374A>CCA358506145TMEM131Lc.4631A>C (p.Asp1544Ala)
c.3962A>C (p.Asp1321Ala)
c.4628A>C (p.Asp1543Ala)
c.2753A>C (p.Asp918Ala)
c.4718A>C (p.Asp1573Ala)
c.4715A>C (p.Asp1572Ala)
c.4688A>C (p.Asp1563Ala)
c.4466A>C (p.Asp1489Ala)
c.4625A>C (p.Asp1542Ala)
c.4685A>C (p.Asp1562Ala)
4g.153636374A>GCA358506147TMEM131Lc.4631A>G (p.Asp1544Gly)
c.3962A>G (p.Asp1321Gly)
c.4628A>G (p.Asp1543Gly)
c.2753A>G (p.Asp918Gly)
c.4718A>G (p.Asp1573Gly)
c.4715A>G (p.Asp1572Gly)
c.4688A>G (p.Asp1563Gly)
c.4466A>G (p.Asp1489Gly)
c.4625A>G (p.Asp1542Gly)
c.4685A>G (p.Asp1562Gly)
4g.153636374A>TCA358506148TMEM131Lc.4631A>T (p.Asp1544Val)
c.3962A>T (p.Asp1321Val)
c.4628A>T (p.Asp1543Val)
c.2753A>T (p.Asp918Val)
c.4718A>T (p.Asp1573Val)
c.4715A>T (p.Asp1572Val)
c.4688A>T (p.Asp1563Val)
c.4466A>T (p.Asp1489Val)
c.4625A>T (p.Asp1542Val)
c.4685A>T (p.Asp1562Val)
4g.153636375T>ACA358506149TMEM131Lc.4632T>A (p.Asp1544Glu)
c.3963T>A (p.Asp1321Glu)
c.4629T>A (p.Asp1543Glu)
c.2754T>A (p.Asp918Glu)
c.4719T>A (p.Asp1573Glu)
c.4716T>A (p.Asp1572Glu)
c.4689T>A (p.Asp1563Glu)
c.4467T>A (p.Asp1489Glu)
c.4626T>A (p.Asp1542Glu)
c.4686T>A (p.Asp1562Glu)
 gnomAD v4
4g.153636375T>CCA441799807TMEM131Lc.4632T>C (p.Asp1544=)
c.3963T>C (p.Asp1321=)
c.4629T>C (p.Asp1543=)
c.2754T>C (p.Asp918=)
c.4719T>C (p.Asp1573=)
c.4716T>C (p.Asp1572=)
c.4689T>C (p.Asp1563=)
c.4467T>C (p.Asp1489=)
c.4626T>C (p.Asp1542=)
c.4686T>C (p.Asp1562=)
 dbSNP gnomAD v4
4g.153636375T>GCA358506151TMEM131Lc.4632T>G (p.Asp1544Glu)
c.3963T>G (p.Asp1321Glu)
c.4629T>G (p.Asp1543Glu)
c.2754T>G (p.Asp918Glu)
c.4719T>G (p.Asp1573Glu)
c.4716T>G (p.Asp1572Glu)
c.4689T>G (p.Asp1563Glu)
c.4467T>G (p.Asp1489Glu)
c.4626T>G (p.Asp1542Glu)
c.4686T>G (p.Asp1562Glu)
4g.153636376G>ACA358506157TMEM131Lc.4633G>A (p.Val1545Met)
c.3964G>A (p.Val1322Met)
c.4630G>A (p.Val1544Met)
c.2755G>A (p.Val919Met)
c.4720G>A (p.Val1574Met)
c.4717G>A (p.Val1573Met)
c.4690G>A (p.Val1564Met)
c.4468G>A (p.Val1490Met)
c.4627G>A (p.Val1543Met)
c.4687G>A (p.Val1563Met)
4g.153636376G>CCA358506155TMEM131Lc.4633G>C (p.Val1545Leu)
c.3964G>C (p.Val1322Leu)
c.4630G>C (p.Val1544Leu)
c.2755G>C (p.Val919Leu)
c.4720G>C (p.Val1574Leu)
c.4717G>C (p.Val1573Leu)
c.4690G>C (p.Val1564Leu)
c.4468G>C (p.Val1490Leu)
c.4627G>C (p.Val1543Leu)
c.4687G>C (p.Val1563Leu)
 dbSNP gnomAD v2
4g.153636376G=CA1504512158TMEM131Lc.4633G= (p.Val1545=)
c.3964G= (p.Val1322=)
c.4630G= (p.Val1544=)
c.2755G= (p.Val919=)
c.4720G= (p.Val1574=)
c.4717G= (p.Val1573=)
c.4690G= (p.Val1564=)
c.4468G= (p.Val1490=)
c.4627G= (p.Val1543=)
c.4687G= (p.Val1563=)
4g.153636376G>TCA358506153TMEM131Lc.4633G>T (p.Val1545Leu)
c.3964G>T (p.Val1322Leu)
c.4630G>T (p.Val1544Leu)
c.2755G>T (p.Val919Leu)
c.4720G>T (p.Val1574Leu)
c.4717G>T (p.Val1573Leu)
c.4690G>T (p.Val1564Leu)
c.4468G>T (p.Val1490Leu)
c.4627G>T (p.Val1543Leu)
c.4687G>T (p.Val1563Leu)
4g.153636377T>ACA358506159TMEM131Lc.4634T>A (p.Val1545Glu)
c.3965T>A (p.Val1322Glu)
c.4631T>A (p.Val1544Glu)
c.2756T>A (p.Val919Glu)
c.4721T>A (p.Val1574Glu)
c.4718T>A (p.Val1573Glu)
c.4691T>A (p.Val1564Glu)
c.4469T>A (p.Val1490Glu)
c.4628T>A (p.Val1543Glu)
c.4688T>A (p.Val1563Glu)
4g.153636377T>CCA358506160TMEM131Lc.4634T>C (p.Val1545Ala)
c.3965T>C (p.Val1322Ala)
c.4631T>C (p.Val1544Ala)
c.2756T>C (p.Val919Ala)
c.4721T>C (p.Val1574Ala)
c.4718T>C (p.Val1573Ala)
c.4691T>C (p.Val1564Ala)
c.4469T>C (p.Val1490Ala)
c.4628T>C (p.Val1543Ala)
c.4688T>C (p.Val1563Ala)
4g.153636377T>GCA358506162TMEM131Lc.4634T>G (p.Val1545Gly)
c.3965T>G (p.Val1322Gly)
c.4631T>G (p.Val1544Gly)
c.2756T>G (p.Val919Gly)
c.4721T>G (p.Val1574Gly)
c.4718T>G (p.Val1573Gly)
c.4691T>G (p.Val1564Gly)
c.4469T>G (p.Val1490Gly)
c.4628T>G (p.Val1543Gly)
c.4688T>G (p.Val1563Gly)

Number of alleles fetched