Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178636708C>ACA430114672TTNc.33315G>T (p.Pro11105=)
c.14400G>T (p.Pro4800=)
c.14199G>T (p.Pro4733=)
c.13824G>T (p.Pro4608=)
c.41019G>T (p.Pro13673=)
c.36096G>T (p.Pro12032=)
c.40116G>T (p.Pro13372=)
c.14010G>T (p.Pro4670=)
c.13869G>T (p.Pro4623=)
c.39912G>T (p.Pro13304=)
c.35310G>T (p.Pro11770=)
c.35307G>T (p.Pro11769=)
c.32349G>T (p.Pro10783=)
c.13965G>T (p.Pro4655=)
c.35460G>T (p.Pro11820=)
c.35457G>T (p.Pro11819=)
c.34890G>T (p.Pro11630=)
c.32232G>T (p.Pro10744=)
c.32151G>T (p.Pro10717=)
c.13914G>T (p.Pro4638=)
c.3768G>T (p.Pro1256=)
2g.178636708C=CA1310558421TTNc.33315G= (p.Pro11105=)
c.14400G= (p.Pro4800=)
c.14199G= (p.Pro4733=)
c.13824G= (p.Pro4608=)
c.41019G= (p.Pro13673=)
c.36096G= (p.Pro12032=)
c.40116G= (p.Pro13372=)
c.14010G= (p.Pro4670=)
c.13869G= (p.Pro4623=)
c.39912G= (p.Pro13304=)
c.35310G= (p.Pro11770=)
c.35307G= (p.Pro11769=)
c.32349G= (p.Pro10783=)
c.13965G= (p.Pro4655=)
c.35460G= (p.Pro11820=)
c.35457G= (p.Pro11819=)
c.34890G= (p.Pro11630=)
c.32232G= (p.Pro10744=)
c.32151G= (p.Pro10717=)
c.13914G= (p.Pro4638=)
c.3768G= (p.Pro1256=)
2g.178636708C>GCA430114670TTNc.33315G>C (p.Pro11105=)
c.14400G>C (p.Pro4800=)
c.14199G>C (p.Pro4733=)
c.13824G>C (p.Pro4608=)
c.41019G>C (p.Pro13673=)
c.36096G>C (p.Pro12032=)
c.40116G>C (p.Pro13372=)
c.14010G>C (p.Pro4670=)
c.13869G>C (p.Pro4623=)
c.39912G>C (p.Pro13304=)
c.35310G>C (p.Pro11770=)
c.35307G>C (p.Pro11769=)
c.32349G>C (p.Pro10783=)
c.13965G>C (p.Pro4655=)
c.35460G>C (p.Pro11820=)
c.35457G>C (p.Pro11819=)
c.34890G>C (p.Pro11630=)
c.32232G>C (p.Pro10744=)
c.32151G>C (p.Pro10717=)
c.13914G>C (p.Pro4638=)
c.3768G>C (p.Pro1256=)
2g.178636708C>TCA1996321TTNc.33315G>A (p.Pro11105=)
c.14400G>A (p.Pro4800=)
c.14199G>A (p.Pro4733=)
c.13824G>A (p.Pro4608=)
c.41019G>A (p.Pro13673=)
c.36096G>A (p.Pro12032=)
c.40116G>A (p.Pro13372=)
c.14010G>A (p.Pro4670=)
c.13869G>A (p.Pro4623=)
c.39912G>A (p.Pro13304=)
c.35310G>A (p.Pro11770=)
c.35307G>A (p.Pro11769=)
c.32349G>A (p.Pro10783=)
c.13965G>A (p.Pro4655=)
c.35460G>A (p.Pro11820=)
c.35457G>A (p.Pro11819=)
c.34890G>A (p.Pro11630=)
c.32232G>A (p.Pro10744=)
c.32151G>A (p.Pro10717=)
c.13914G>A (p.Pro4638=)
c.3768G>A (p.Pro1256=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178636709G>ACA1996322TTNc.33314C>T (p.Pro11105Leu)
c.14399C>T (p.Pro4800Leu)
c.14198C>T (p.Pro4733Leu)
c.13823C>T (p.Pro4608Leu)
c.41018C>T (p.Pro13673Leu)
c.36095C>T (p.Pro12032Leu)
c.40115C>T (p.Pro13372Leu)
c.14009C>T (p.Pro4670Leu)
c.13868C>T (p.Pro4623Leu)
c.39911C>T (p.Pro13304Leu)
c.35309C>T (p.Pro11770Leu)
c.35306C>T (p.Pro11769Leu)
c.32348C>T (p.Pro10783Leu)
c.13964C>T (p.Pro4655Leu)
c.35459C>T (p.Pro11820Leu)
c.35456C>T (p.Pro11819Leu)
c.34889C>T (p.Pro11630Leu)
c.32231C>T (p.Pro10744Leu)
c.32150C>T (p.Pro10717Leu)
c.13913C>T (p.Pro4638Leu)
c.3767C>T (p.Pro1256Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
2g.178636709G>CCA349661753TTNc.33314C>G (p.Pro11105Arg)
c.14399C>G (p.Pro4800Arg)
c.14198C>G (p.Pro4733Arg)
c.13823C>G (p.Pro4608Arg)
c.41018C>G (p.Pro13673Arg)
c.36095C>G (p.Pro12032Arg)
c.40115C>G (p.Pro13372Arg)
c.14009C>G (p.Pro4670Arg)
c.13868C>G (p.Pro4623Arg)
c.39911C>G (p.Pro13304Arg)
c.35309C>G (p.Pro11770Arg)
c.35306C>G (p.Pro11769Arg)
c.32348C>G (p.Pro10783Arg)
c.13964C>G (p.Pro4655Arg)
c.35459C>G (p.Pro11820Arg)
c.35456C>G (p.Pro11819Arg)
c.34889C>G (p.Pro11630Arg)
c.32231C>G (p.Pro10744Arg)
c.32150C>G (p.Pro10717Arg)
c.13913C>G (p.Pro4638Arg)
c.3767C>G (p.Pro1256Arg)
2g.178636709G=CA1310558422TTNc.33314C= (p.Pro11105=)
c.14399C= (p.Pro4800=)
c.14198C= (p.Pro4733=)
c.13823C= (p.Pro4608=)
c.41018C= (p.Pro13673=)
c.36095C= (p.Pro12032=)
c.40115C= (p.Pro13372=)
c.14009C= (p.Pro4670=)
c.13868C= (p.Pro4623=)
c.39911C= (p.Pro13304=)
c.35309C= (p.Pro11770=)
c.35306C= (p.Pro11769=)
c.32348C= (p.Pro10783=)
c.13964C= (p.Pro4655=)
c.35459C= (p.Pro11820=)
c.35456C= (p.Pro11819=)
c.34889C= (p.Pro11630=)
c.32231C= (p.Pro10744=)
c.32150C= (p.Pro10717=)
c.13913C= (p.Pro4638=)
c.3767C= (p.Pro1256=)
2g.178636709G>TCA349661755TTNc.33314C>A (p.Pro11105Gln)
c.14399C>A (p.Pro4800Gln)
c.14198C>A (p.Pro4733Gln)
c.13823C>A (p.Pro4608Gln)
c.41018C>A (p.Pro13673Gln)
c.36095C>A (p.Pro12032Gln)
c.40115C>A (p.Pro13372Gln)
c.14009C>A (p.Pro4670Gln)
c.13868C>A (p.Pro4623Gln)
c.39911C>A (p.Pro13304Gln)
c.35309C>A (p.Pro11770Gln)
c.35306C>A (p.Pro11769Gln)
c.32348C>A (p.Pro10783Gln)
c.13964C>A (p.Pro4655Gln)
c.35459C>A (p.Pro11820Gln)
c.35456C>A (p.Pro11819Gln)
c.34889C>A (p.Pro11630Gln)
c.32231C>A (p.Pro10744Gln)
c.32150C>A (p.Pro10717Gln)
c.13913C>A (p.Pro4638Gln)
c.3767C>A (p.Pro1256Gln)
 gnomAD v4
2g.178636711_178636712dupCA2662136140TTNc.33313_33314dup (p.Phe11106ArgfsTer6)
c.14398_14399dup (p.Phe4801ArgfsTer6)
c.14197_14198dup (p.Phe4734ArgfsTer6)
c.13822_13823dup (p.Phe4609ArgfsTer6)
c.41017_41018dup (p.Phe13674ArgfsTer6)
c.36094_36095dup (p.Phe12033ArgfsTer6)
c.40114_40115dup (p.Phe13373ArgfsTer6)
c.14008_14009dup (p.Phe4671ArgfsTer6)
c.13867_13868dup (p.Phe4624ArgfsTer6)
c.39910_39911dup (p.Phe13305ArgfsTer6)
c.35308_35309dup (p.Phe11771ArgfsTer6)
c.35305_35306dup (p.Phe11770ArgfsTer6)
c.32347_32348dup (p.Phe10784ArgfsTer6)
c.13963_13964dup (p.Phe4656ArgfsTer6)
c.35458_35459dup (p.Phe11821ArgfsTer6)
c.35455_35456dup (p.Phe11820ArgfsTer6)
c.34888_34889dup (p.Phe11631ArgfsTer6)
c.32230_32231dup (p.Phe10745ArgfsTer6)
c.32149_32150dup (p.Phe10718ArgfsTer6)
c.13912_13913dup (p.Phe4639ArgfsTer6)
c.3766_3767dup (p.Phe1257ArgfsTer6)
 gnomAD v4
2g.178636710G>ACA349661756TTNc.33313C>T (p.Pro11105Ser)
c.14398C>T (p.Pro4800Ser)
c.14197C>T (p.Pro4733Ser)
c.13822C>T (p.Pro4608Ser)
c.41017C>T (p.Pro13673Ser)
c.36094C>T (p.Pro12032Ser)
c.40114C>T (p.Pro13372Ser)
c.14008C>T (p.Pro4670Ser)
c.13867C>T (p.Pro4623Ser)
c.39910C>T (p.Pro13304Ser)
c.35308C>T (p.Pro11770Ser)
c.35305C>T (p.Pro11769Ser)
c.32347C>T (p.Pro10783Ser)
c.13963C>T (p.Pro4655Ser)
c.35458C>T (p.Pro11820Ser)
c.35455C>T (p.Pro11819Ser)
c.34888C>T (p.Pro11630Ser)
c.32230C>T (p.Pro10744Ser)
c.32149C>T (p.Pro10717Ser)
c.13912C>T (p.Pro4638Ser)
c.3766C>T (p.Pro1256Ser)
2g.178636710G>CCA349661758TTNc.33313C>G (p.Pro11105Ala)
c.14398C>G (p.Pro4800Ala)
c.14197C>G (p.Pro4733Ala)
c.13822C>G (p.Pro4608Ala)
c.41017C>G (p.Pro13673Ala)
c.36094C>G (p.Pro12032Ala)
c.40114C>G (p.Pro13372Ala)
c.14008C>G (p.Pro4670Ala)
c.13867C>G (p.Pro4623Ala)
c.39910C>G (p.Pro13304Ala)
c.35308C>G (p.Pro11770Ala)
c.35305C>G (p.Pro11769Ala)
c.32347C>G (p.Pro10783Ala)
c.13963C>G (p.Pro4655Ala)
c.35458C>G (p.Pro11820Ala)
c.35455C>G (p.Pro11819Ala)
c.34888C>G (p.Pro11630Ala)
c.32230C>G (p.Pro10744Ala)
c.32149C>G (p.Pro10717Ala)
c.13912C>G (p.Pro4638Ala)
c.3766C>G (p.Pro1256Ala)
2g.178636710G=CA1310558423TTNc.33313C= (p.Pro11105=)
c.14398C= (p.Pro4800=)
c.14197C= (p.Pro4733=)
c.13822C= (p.Pro4608=)
c.41017C= (p.Pro13673=)
c.36094C= (p.Pro12032=)
c.40114C= (p.Pro13372=)
c.14008C= (p.Pro4670=)
c.13867C= (p.Pro4623=)
c.39910C= (p.Pro13304=)
c.35308C= (p.Pro11770=)
c.35305C= (p.Pro11769=)
c.32347C= (p.Pro10783=)
c.13963C= (p.Pro4655=)
c.35458C= (p.Pro11820=)
c.35455C= (p.Pro11819=)
c.34888C= (p.Pro11630=)
c.32230C= (p.Pro10744=)
c.32149C= (p.Pro10717=)
c.13912C= (p.Pro4638=)
c.3766C= (p.Pro1256=)
2g.178636710G>TCA349661760TTNc.33313C>A (p.Pro11105Thr)
c.14398C>A (p.Pro4800Thr)
c.14197C>A (p.Pro4733Thr)
c.13822C>A (p.Pro4608Thr)
c.41017C>A (p.Pro13673Thr)
c.36094C>A (p.Pro12032Thr)
c.40114C>A (p.Pro13372Thr)
c.14008C>A (p.Pro4670Thr)
c.13867C>A (p.Pro4623Thr)
c.39910C>A (p.Pro13304Thr)
c.35308C>A (p.Pro11770Thr)
c.35305C>A (p.Pro11769Thr)
c.32347C>A (p.Pro10783Thr)
c.13963C>A (p.Pro4655Thr)
c.35458C>A (p.Pro11820Thr)
c.35455C>A (p.Pro11819Thr)
c.34888C>A (p.Pro11630Thr)
c.32230C>A (p.Pro10744Thr)
c.32149C>A (p.Pro10717Thr)
c.13912C>A (p.Pro4638Thr)
c.3766C>A (p.Pro1256Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178636711G>ACA430114680TTNc.33312C>T (p.Ala11104=)
c.14397C>T (p.Ala4799=)
c.14196C>T (p.Ala4732=)
c.13821C>T (p.Ala4607=)
c.41016C>T (p.Ala13672=)
c.36093C>T (p.Ala12031=)
c.40113C>T (p.Ala13371=)
c.14007C>T (p.Ala4669=)
c.13866C>T (p.Ala4622=)
c.39909C>T (p.Ala13303=)
c.35307C>T (p.Ala11769=)
c.35304C>T (p.Ala11768=)
c.32346C>T (p.Ala10782=)
c.13962C>T (p.Ala4654=)
c.35457C>T (p.Ala11819=)
c.35454C>T (p.Ala11818=)
c.34887C>T (p.Ala11629=)
c.32229C>T (p.Ala10743=)
c.32148C>T (p.Ala10716=)
c.13911C>T (p.Ala4637=)
c.3765C>T (p.Ala1255=)
2g.178636711G>CCA430114682TTNc.33312C>G (p.Ala11104=)
c.14397C>G (p.Ala4799=)
c.14196C>G (p.Ala4732=)
c.13821C>G (p.Ala4607=)
c.41016C>G (p.Ala13672=)
c.36093C>G (p.Ala12031=)
c.40113C>G (p.Ala13371=)
c.14007C>G (p.Ala4669=)
c.13866C>G (p.Ala4622=)
c.39909C>G (p.Ala13303=)
c.35307C>G (p.Ala11769=)
c.35304C>G (p.Ala11768=)
c.32346C>G (p.Ala10782=)
c.13962C>G (p.Ala4654=)
c.35457C>G (p.Ala11819=)
c.35454C>G (p.Ala11818=)
c.34887C>G (p.Ala11629=)
c.32229C>G (p.Ala10743=)
c.32148C>G (p.Ala10716=)
c.13911C>G (p.Ala4637=)
c.3765C>G (p.Ala1255=)
2g.178636711G=CA1310558424TTNc.33312C= (p.Ala11104=)
c.14397C= (p.Ala4799=)
c.14196C= (p.Ala4732=)
c.13821C= (p.Ala4607=)
c.41016C= (p.Ala13672=)
c.36093C= (p.Ala12031=)
c.40113C= (p.Ala13371=)
c.14007C= (p.Ala4669=)
c.13866C= (p.Ala4622=)
c.39909C= (p.Ala13303=)
c.35307C= (p.Ala11769=)
c.35304C= (p.Ala11768=)
c.32346C= (p.Ala10782=)
c.13962C= (p.Ala4654=)
c.35457C= (p.Ala11819=)
c.35454C= (p.Ala11818=)
c.34887C= (p.Ala11629=)
c.32229C= (p.Ala10743=)
c.32148C= (p.Ala10716=)
c.13911C= (p.Ala4637=)
c.3765C= (p.Ala1255=)
2g.178636711G>TCA430114685TTNc.33312C>A (p.Ala11104=)
c.14397C>A (p.Ala4799=)
c.14196C>A (p.Ala4732=)
c.13821C>A (p.Ala4607=)
c.41016C>A (p.Ala13672=)
c.36093C>A (p.Ala12031=)
c.40113C>A (p.Ala13371=)
c.14007C>A (p.Ala4669=)
c.13866C>A (p.Ala4622=)
c.39909C>A (p.Ala13303=)
c.35307C>A (p.Ala11769=)
c.35304C>A (p.Ala11768=)
c.32346C>A (p.Ala10782=)
c.13962C>A (p.Ala4654=)
c.35457C>A (p.Ala11819=)
c.35454C>A (p.Ala11818=)
c.34887C>A (p.Ala11629=)
c.32229C>A (p.Ala10743=)
c.32148C>A (p.Ala10716=)
c.13911C>A (p.Ala4637=)
c.3765C>A (p.Ala1255=)
 ClinVar dbSNP
2g.178636712G>ACA349661761TTNc.33311C>T (p.Ala11104Val)
c.14396C>T (p.Ala4799Val)
c.14195C>T (p.Ala4732Val)
c.13820C>T (p.Ala4607Val)
c.41015C>T (p.Ala13672Val)
c.36092C>T (p.Ala12031Val)
c.40112C>T (p.Ala13371Val)
c.14006C>T (p.Ala4669Val)
c.13865C>T (p.Ala4622Val)
c.39908C>T (p.Ala13303Val)
c.35306C>T (p.Ala11769Val)
c.35303C>T (p.Ala11768Val)
c.32345C>T (p.Ala10782Val)
c.13961C>T (p.Ala4654Val)
c.35456C>T (p.Ala11819Val)
c.35453C>T (p.Ala11818Val)
c.34886C>T (p.Ala11629Val)
c.32228C>T (p.Ala10743Val)
c.32147C>T (p.Ala10716Val)
c.13910C>T (p.Ala4637Val)
c.3764C>T (p.Ala1255Val)
 gnomAD v4
2g.178636712G>CCA349661763TTNc.33311C>G (p.Ala11104Gly)
c.14396C>G (p.Ala4799Gly)
c.14195C>G (p.Ala4732Gly)
c.13820C>G (p.Ala4607Gly)
c.41015C>G (p.Ala13672Gly)
c.36092C>G (p.Ala12031Gly)
c.40112C>G (p.Ala13371Gly)
c.14006C>G (p.Ala4669Gly)
c.13865C>G (p.Ala4622Gly)
c.39908C>G (p.Ala13303Gly)
c.35306C>G (p.Ala11769Gly)
c.35303C>G (p.Ala11768Gly)
c.32345C>G (p.Ala10782Gly)
c.13961C>G (p.Ala4654Gly)
c.35456C>G (p.Ala11819Gly)
c.35453C>G (p.Ala11818Gly)
c.34886C>G (p.Ala11629Gly)
c.32228C>G (p.Ala10743Gly)
c.32147C>G (p.Ala10716Gly)
c.13910C>G (p.Ala4637Gly)
c.3764C>G (p.Ala1255Gly)
2g.178636712G>TCA349661764TTNc.33311C>A (p.Ala11104Asp)
c.14396C>A (p.Ala4799Asp)
c.14195C>A (p.Ala4732Asp)
c.13820C>A (p.Ala4607Asp)
c.41015C>A (p.Ala13672Asp)
c.36092C>A (p.Ala12031Asp)
c.40112C>A (p.Ala13371Asp)
c.14006C>A (p.Ala4669Asp)
c.13865C>A (p.Ala4622Asp)
c.39908C>A (p.Ala13303Asp)
c.35306C>A (p.Ala11769Asp)
c.35303C>A (p.Ala11768Asp)
c.32345C>A (p.Ala10782Asp)
c.13961C>A (p.Ala4654Asp)
c.35456C>A (p.Ala11819Asp)
c.35453C>A (p.Ala11818Asp)
c.34886C>A (p.Ala11629Asp)
c.32228C>A (p.Ala10743Asp)
c.32147C>A (p.Ala10716Asp)
c.13910C>A (p.Ala4637Asp)
c.3764C>A (p.Ala1255Asp)
2g.178636713C>ACA349661768TTNc.33310G>T (p.Ala11104Ser)
c.14395G>T (p.Ala4799Ser)
c.14194G>T (p.Ala4732Ser)
c.13819G>T (p.Ala4607Ser)
c.41014G>T (p.Ala13672Ser)
c.36091G>T (p.Ala12031Ser)
c.40111G>T (p.Ala13371Ser)
c.14005G>T (p.Ala4669Ser)
c.13864G>T (p.Ala4622Ser)
c.39907G>T (p.Ala13303Ser)
c.35305G>T (p.Ala11769Ser)
c.35302G>T (p.Ala11768Ser)
c.32344G>T (p.Ala10782Ser)
c.13960G>T (p.Ala4654Ser)
c.35455G>T (p.Ala11819Ser)
c.35452G>T (p.Ala11818Ser)
c.34885G>T (p.Ala11629Ser)
c.32227G>T (p.Ala10743Ser)
c.32146G>T (p.Ala10716Ser)
c.13909G>T (p.Ala4637Ser)
c.3763G>T (p.Ala1255Ser)
2g.178636713C=CA1310558425TTNc.33310G= (p.Ala11104=)
c.14395G= (p.Ala4799=)
c.14194G= (p.Ala4732=)
c.13819G= (p.Ala4607=)
c.41014G= (p.Ala13672=)
c.36091G= (p.Ala12031=)
c.40111G= (p.Ala13371=)
c.14005G= (p.Ala4669=)
c.13864G= (p.Ala4622=)
c.39907G= (p.Ala13303=)
c.35305G= (p.Ala11769=)
c.35302G= (p.Ala11768=)
c.32344G= (p.Ala10782=)
c.13960G= (p.Ala4654=)
c.35455G= (p.Ala11819=)
c.35452G= (p.Ala11818=)
c.34885G= (p.Ala11629=)
c.32227G= (p.Ala10743=)
c.32146G= (p.Ala10716=)
c.13909G= (p.Ala4637=)
c.3763G= (p.Ala1255=)
2g.178636713C>GCA349661769TTNc.33310G>C (p.Ala11104Pro)
c.14395G>C (p.Ala4799Pro)
c.14194G>C (p.Ala4732Pro)
c.13819G>C (p.Ala4607Pro)
c.41014G>C (p.Ala13672Pro)
c.36091G>C (p.Ala12031Pro)
c.40111G>C (p.Ala13371Pro)
c.14005G>C (p.Ala4669Pro)
c.13864G>C (p.Ala4622Pro)
c.39907G>C (p.Ala13303Pro)
c.35305G>C (p.Ala11769Pro)
c.35302G>C (p.Ala11768Pro)
c.32344G>C (p.Ala10782Pro)
c.13960G>C (p.Ala4654Pro)
c.35455G>C (p.Ala11819Pro)
c.35452G>C (p.Ala11818Pro)
c.34885G>C (p.Ala11629Pro)
c.32227G>C (p.Ala10743Pro)
c.32146G>C (p.Ala10716Pro)
c.13909G>C (p.Ala4637Pro)
c.3763G>C (p.Ala1255Pro)
2g.178636713C>TCA349661766TTNc.33310G>A (p.Ala11104Thr)
c.14395G>A (p.Ala4799Thr)
c.14194G>A (p.Ala4732Thr)
c.13819G>A (p.Ala4607Thr)
c.41014G>A (p.Ala13672Thr)
c.36091G>A (p.Ala12031Thr)
c.40111G>A (p.Ala13371Thr)
c.14005G>A (p.Ala4669Thr)
c.13864G>A (p.Ala4622Thr)
c.39907G>A (p.Ala13303Thr)
c.35305G>A (p.Ala11769Thr)
c.35302G>A (p.Ala11768Thr)
c.32344G>A (p.Ala10782Thr)
c.13960G>A (p.Ala4654Thr)
c.35455G>A (p.Ala11819Thr)
c.35452G>A (p.Ala11818Thr)
c.34885G>A (p.Ala11629Thr)
c.32227G>A (p.Ala10743Thr)
c.32146G>A (p.Ala10716Thr)
c.13909G>A (p.Ala4637Thr)
c.3763G>A (p.Ala1255Thr)
 dbSNP gnomAD v4
2g.178636714T>ACA349661770TTNc.33309A>T (p.Glu11103Asp)
c.14394A>T (p.Glu4798Asp)
c.14193A>T (p.Glu4731Asp)
c.13818A>T (p.Glu4606Asp)
c.41013A>T (p.Glu13671Asp)
c.36090A>T (p.Glu12030Asp)
c.40110A>T (p.Glu13370Asp)
c.14004A>T (p.Glu4668Asp)
c.13863A>T (p.Glu4621Asp)
c.39906A>T (p.Glu13302Asp)
c.35304A>T (p.Glu11768Asp)
c.35301A>T (p.Glu11767Asp)
c.32343A>T (p.Glu10781Asp)
c.13959A>T (p.Glu4653Asp)
c.35454A>T (p.Glu11818Asp)
c.35451A>T (p.Glu11817Asp)
c.34884A>T (p.Glu11628Asp)
c.32226A>T (p.Glu10742Asp)
c.32145A>T (p.Glu10715Asp)
c.13908A>T (p.Glu4636Asp)
c.3762A>T (p.Glu1254Asp)
2g.178636714T>CCA430114694TTNc.33309A>G (p.Glu11103=)
c.14394A>G (p.Glu4798=)
c.14193A>G (p.Glu4731=)
c.13818A>G (p.Glu4606=)
c.41013A>G (p.Glu13671=)
c.36090A>G (p.Glu12030=)
c.40110A>G (p.Glu13370=)
c.14004A>G (p.Glu4668=)
c.13863A>G (p.Glu4621=)
c.39906A>G (p.Glu13302=)
c.35304A>G (p.Glu11768=)
c.35301A>G (p.Glu11767=)
c.32343A>G (p.Glu10781=)
c.13959A>G (p.Glu4653=)
c.35454A>G (p.Glu11818=)
c.35451A>G (p.Glu11817=)
c.34884A>G (p.Glu11628=)
c.32226A>G (p.Glu10742=)
c.32145A>G (p.Glu10715=)
c.13908A>G (p.Glu4636=)
c.3762A>G (p.Glu1254=)
2g.178636714T>GCA349661771TTNc.33309A>C (p.Glu11103Asp)
c.14394A>C (p.Glu4798Asp)
c.14193A>C (p.Glu4731Asp)
c.13818A>C (p.Glu4606Asp)
c.41013A>C (p.Glu13671Asp)
c.36090A>C (p.Glu12030Asp)
c.40110A>C (p.Glu13370Asp)
c.14004A>C (p.Glu4668Asp)
c.13863A>C (p.Glu4621Asp)
c.39906A>C (p.Glu13302Asp)
c.35304A>C (p.Glu11768Asp)
c.35301A>C (p.Glu11767Asp)
c.32343A>C (p.Glu10781Asp)
c.13959A>C (p.Glu4653Asp)
c.35454A>C (p.Glu11818Asp)
c.35451A>C (p.Glu11817Asp)
c.34884A>C (p.Glu11628Asp)
c.32226A>C (p.Glu10742Asp)
c.32145A>C (p.Glu10715Asp)
c.13908A>C (p.Glu4636Asp)
c.3762A>C (p.Glu1254Asp)
2g.178636715T>ACA349661773TTNc.33308A>T (p.Glu11103Val)
c.14393A>T (p.Glu4798Val)
c.14192A>T (p.Glu4731Val)
c.13817A>T (p.Glu4606Val)
c.41012A>T (p.Glu13671Val)
c.36089A>T (p.Glu12030Val)
c.40109A>T (p.Glu13370Val)
c.14003A>T (p.Glu4668Val)
c.13862A>T (p.Glu4621Val)
c.39905A>T (p.Glu13302Val)
c.35303A>T (p.Glu11768Val)
c.35300A>T (p.Glu11767Val)
c.32342A>T (p.Glu10781Val)
c.13958A>T (p.Glu4653Val)
c.35453A>T (p.Glu11818Val)
c.35450A>T (p.Glu11817Val)
c.34883A>T (p.Glu11628Val)
c.32225A>T (p.Glu10742Val)
c.32144A>T (p.Glu10715Val)
c.13907A>T (p.Glu4636Val)
c.3761A>T (p.Glu1254Val)
2g.178636715T>CCA349661775TTNc.33308A>G (p.Glu11103Gly)
c.14393A>G (p.Glu4798Gly)
c.14192A>G (p.Glu4731Gly)
c.13817A>G (p.Glu4606Gly)
c.41012A>G (p.Glu13671Gly)
c.36089A>G (p.Glu12030Gly)
c.40109A>G (p.Glu13370Gly)
c.14003A>G (p.Glu4668Gly)
c.13862A>G (p.Glu4621Gly)
c.39905A>G (p.Glu13302Gly)
c.35303A>G (p.Glu11768Gly)
c.35300A>G (p.Glu11767Gly)
c.32342A>G (p.Glu10781Gly)
c.13958A>G (p.Glu4653Gly)
c.35453A>G (p.Glu11818Gly)
c.35450A>G (p.Glu11817Gly)
c.34883A>G (p.Glu11628Gly)
c.32225A>G (p.Glu10742Gly)
c.32144A>G (p.Glu10715Gly)
c.13907A>G (p.Glu4636Gly)
c.3761A>G (p.Glu1254Gly)
2g.178636715T>GCA349661776TTNc.33308A>C (p.Glu11103Ala)
c.14393A>C (p.Glu4798Ala)
c.14192A>C (p.Glu4731Ala)
c.13817A>C (p.Glu4606Ala)
c.41012A>C (p.Glu13671Ala)
c.36089A>C (p.Glu12030Ala)
c.40109A>C (p.Glu13370Ala)
c.14003A>C (p.Glu4668Ala)
c.13862A>C (p.Glu4621Ala)
c.39905A>C (p.Glu13302Ala)
c.35303A>C (p.Glu11768Ala)
c.35300A>C (p.Glu11767Ala)
c.32342A>C (p.Glu10781Ala)
c.13958A>C (p.Glu4653Ala)
c.35453A>C (p.Glu11818Ala)
c.35450A>C (p.Glu11817Ala)
c.34883A>C (p.Glu11628Ala)
c.32225A>C (p.Glu10742Ala)
c.32144A>C (p.Glu10715Ala)
c.13907A>C (p.Glu4636Ala)
c.3761A>C (p.Glu1254Ala)
2g.178636716C>ACA349661777TTNc.33307G>T (p.Glu11103Ter)
c.14392G>T (p.Glu4798Ter)
c.14191G>T (p.Glu4731Ter)
c.13816G>T (p.Glu4606Ter)
c.41011G>T (p.Glu13671Ter)
c.36088G>T (p.Glu12030Ter)
c.40108G>T (p.Glu13370Ter)
c.14002G>T (p.Glu4668Ter)
c.13861G>T (p.Glu4621Ter)
c.39904G>T (p.Glu13302Ter)
c.35302G>T (p.Glu11768Ter)
c.35299G>T (p.Glu11767Ter)
c.32341G>T (p.Glu10781Ter)
c.13957G>T (p.Glu4653Ter)
c.35452G>T (p.Glu11818Ter)
c.35449G>T (p.Glu11817Ter)
c.34882G>T (p.Glu11628Ter)
c.32224G>T (p.Glu10742Ter)
c.32143G>T (p.Glu10715Ter)
c.13906G>T (p.Glu4636Ter)
c.3760G>T (p.Glu1254Ter)
2g.178636716C>GCA349661778TTNc.33307G>C (p.Glu11103Gln)
c.14392G>C (p.Glu4798Gln)
c.14191G>C (p.Glu4731Gln)
c.13816G>C (p.Glu4606Gln)
c.41011G>C (p.Glu13671Gln)
c.36088G>C (p.Glu12030Gln)
c.40108G>C (p.Glu13370Gln)
c.14002G>C (p.Glu4668Gln)
c.13861G>C (p.Glu4621Gln)
c.39904G>C (p.Glu13302Gln)
c.35302G>C (p.Glu11768Gln)
c.35299G>C (p.Glu11767Gln)
c.32341G>C (p.Glu10781Gln)
c.13957G>C (p.Glu4653Gln)
c.35452G>C (p.Glu11818Gln)
c.35449G>C (p.Glu11817Gln)
c.34882G>C (p.Glu11628Gln)
c.32224G>C (p.Glu10742Gln)
c.32143G>C (p.Glu10715Gln)
c.13906G>C (p.Glu4636Gln)
c.3760G>C (p.Glu1254Gln)
2g.178636716C>TCA349661779TTNc.33307G>A (p.Glu11103Lys)
c.14392G>A (p.Glu4798Lys)
c.14191G>A (p.Glu4731Lys)
c.13816G>A (p.Glu4606Lys)
c.41011G>A (p.Glu13671Lys)
c.36088G>A (p.Glu12030Lys)
c.40108G>A (p.Glu13370Lys)
c.14002G>A (p.Glu4668Lys)
c.13861G>A (p.Glu4621Lys)
c.39904G>A (p.Glu13302Lys)
c.35302G>A (p.Glu11768Lys)
c.35299G>A (p.Glu11767Lys)
c.32341G>A (p.Glu10781Lys)
c.13957G>A (p.Glu4653Lys)
c.35452G>A (p.Glu11818Lys)
c.35449G>A (p.Glu11817Lys)
c.34882G>A (p.Glu11628Lys)
c.32224G>A (p.Glu10742Lys)
c.32143G>A (p.Glu10715Lys)
c.13906G>A (p.Glu4636Lys)
c.3760G>A (p.Glu1254Lys)
 COSMIC COSMIC COSMIC COSMIC
2g.178636717A=CA1310558426TTNc.33306T= (p.Asp11102=)
c.14391T= (p.Asp4797=)
c.14190T= (p.Asp4730=)
c.13815T= (p.Asp4605=)
c.41010T= (p.Asp13670=)
c.36087T= (p.Asp12029=)
c.40107T= (p.Asp13369=)
c.14001T= (p.Asp4667=)
c.13860T= (p.Asp4620=)
c.39903T= (p.Asp13301=)
c.35301T= (p.Asp11767=)
c.35298T= (p.Asp11766=)
c.32340T= (p.Asp10780=)
c.13956T= (p.Asp4652=)
c.35451T= (p.Asp11817=)
c.35448T= (p.Asp11816=)
c.34881T= (p.Asp11627=)
c.32223T= (p.Asp10741=)
c.32142T= (p.Asp10714=)
c.13905T= (p.Asp4635=)
c.3759T= (p.Asp1253=)
2g.178636717A>CCA349661780TTNc.33306T>G (p.Asp11102Glu)
c.14391T>G (p.Asp4797Glu)
c.14190T>G (p.Asp4730Glu)
c.13815T>G (p.Asp4605Glu)
c.41010T>G (p.Asp13670Glu)
c.36087T>G (p.Asp12029Glu)
c.40107T>G (p.Asp13369Glu)
c.14001T>G (p.Asp4667Glu)
c.13860T>G (p.Asp4620Glu)
c.39903T>G (p.Asp13301Glu)
c.35301T>G (p.Asp11767Glu)
c.35298T>G (p.Asp11766Glu)
c.32340T>G (p.Asp10780Glu)
c.13956T>G (p.Asp4652Glu)
c.35451T>G (p.Asp11817Glu)
c.35448T>G (p.Asp11816Glu)
c.34881T>G (p.Asp11627Glu)
c.32223T>G (p.Asp10741Glu)
c.32142T>G (p.Asp10714Glu)
c.13905T>G (p.Asp4635Glu)
c.3759T>G (p.Asp1253Glu)
 gnomAD v4
2g.178636717A>GCA139589TTNc.33306T>C (p.Asp11102=)
c.14391T>C (p.Asp4797=)
c.14190T>C (p.Asp4730=)
c.13815T>C (p.Asp4605=)
c.41010T>C (p.Asp13670=)
c.36087T>C (p.Asp12029=)
c.40107T>C (p.Asp13369=)
c.14001T>C (p.Asp4667=)
c.13860T>C (p.Asp4620=)
c.39903T>C (p.Asp13301=)
c.35301T>C (p.Asp11767=)
c.35298T>C (p.Asp11766=)
c.32340T>C (p.Asp10780=)
c.13956T>C (p.Asp4652=)
c.35451T>C (p.Asp11817=)
c.35448T>C (p.Asp11816=)
c.34881T>C (p.Asp11627=)
c.32223T>C (p.Asp10741=)
c.32142T>C (p.Asp10714=)
c.13905T>C (p.Asp4635=)
c.3759T>C (p.Asp1253=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178636717A>TCA349661782TTNc.33306T>A (p.Asp11102Glu)
c.14391T>A (p.Asp4797Glu)
c.14190T>A (p.Asp4730Glu)
c.13815T>A (p.Asp4605Glu)
c.41010T>A (p.Asp13670Glu)
c.36087T>A (p.Asp12029Glu)
c.40107T>A (p.Asp13369Glu)
c.14001T>A (p.Asp4667Glu)
c.13860T>A (p.Asp4620Glu)
c.39903T>A (p.Asp13301Glu)
c.35301T>A (p.Asp11767Glu)
c.35298T>A (p.Asp11766Glu)
c.32340T>A (p.Asp10780Glu)
c.13956T>A (p.Asp4652Glu)
c.35451T>A (p.Asp11817Glu)
c.35448T>A (p.Asp11816Glu)
c.34881T>A (p.Asp11627Glu)
c.32223T>A (p.Asp10741Glu)
c.32142T>A (p.Asp10714Glu)
c.13905T>A (p.Asp4635Glu)
c.3759T>A (p.Asp1253Glu)
2g.178636718T>ACA349661787TTNc.33305A>T (p.Asp11102Val)
c.14390A>T (p.Asp4797Val)
c.14189A>T (p.Asp4730Val)
c.13814A>T (p.Asp4605Val)
c.41009A>T (p.Asp13670Val)
c.36086A>T (p.Asp12029Val)
c.40106A>T (p.Asp13369Val)
c.14000A>T (p.Asp4667Val)
c.13859A>T (p.Asp4620Val)
c.39902A>T (p.Asp13301Val)
c.35300A>T (p.Asp11767Val)
c.35297A>T (p.Asp11766Val)
c.32339A>T (p.Asp10780Val)
c.13955A>T (p.Asp4652Val)
c.35450A>T (p.Asp11817Val)
c.35447A>T (p.Asp11816Val)
c.34880A>T (p.Asp11627Val)
c.32222A>T (p.Asp10741Val)
c.32141A>T (p.Asp10714Val)
c.13904A>T (p.Asp4635Val)
c.3758A>T (p.Asp1253Val)
2g.178636718T>CCA349661784TTNc.33305A>G (p.Asp11102Gly)
c.14390A>G (p.Asp4797Gly)
c.14189A>G (p.Asp4730Gly)
c.13814A>G (p.Asp4605Gly)
c.41009A>G (p.Asp13670Gly)
c.36086A>G (p.Asp12029Gly)
c.40106A>G (p.Asp13369Gly)
c.14000A>G (p.Asp4667Gly)
c.13859A>G (p.Asp4620Gly)
c.39902A>G (p.Asp13301Gly)
c.35300A>G (p.Asp11767Gly)
c.35297A>G (p.Asp11766Gly)
c.32339A>G (p.Asp10780Gly)
c.13955A>G (p.Asp4652Gly)
c.35450A>G (p.Asp11817Gly)
c.35447A>G (p.Asp11816Gly)
c.34880A>G (p.Asp11627Gly)
c.32222A>G (p.Asp10741Gly)
c.32141A>G (p.Asp10714Gly)
c.13904A>G (p.Asp4635Gly)
c.3758A>G (p.Asp1253Gly)
2g.178636718T>GCA349661785TTNc.33305A>C (p.Asp11102Ala)
c.14390A>C (p.Asp4797Ala)
c.14189A>C (p.Asp4730Ala)
c.13814A>C (p.Asp4605Ala)
c.41009A>C (p.Asp13670Ala)
c.36086A>C (p.Asp12029Ala)
c.40106A>C (p.Asp13369Ala)
c.14000A>C (p.Asp4667Ala)
c.13859A>C (p.Asp4620Ala)
c.39902A>C (p.Asp13301Ala)
c.35300A>C (p.Asp11767Ala)
c.35297A>C (p.Asp11766Ala)
c.32339A>C (p.Asp10780Ala)
c.13955A>C (p.Asp4652Ala)
c.35450A>C (p.Asp11817Ala)
c.35447A>C (p.Asp11816Ala)
c.34880A>C (p.Asp11627Ala)
c.32222A>C (p.Asp10741Ala)
c.32141A>C (p.Asp10714Ala)
c.13904A>C (p.Asp4635Ala)
c.3758A>C (p.Asp1253Ala)
2g.178636719C>ACA349661789TTNc.33304G>T (p.Asp11102Tyr)
c.14389G>T (p.Asp4797Tyr)
c.14188G>T (p.Asp4730Tyr)
c.13813G>T (p.Asp4605Tyr)
c.41008G>T (p.Asp13670Tyr)
c.36085G>T (p.Asp12029Tyr)
c.40105G>T (p.Asp13369Tyr)
c.13999G>T (p.Asp4667Tyr)
c.13858G>T (p.Asp4620Tyr)
c.39901G>T (p.Asp13301Tyr)
c.35299G>T (p.Asp11767Tyr)
c.35296G>T (p.Asp11766Tyr)
c.32338G>T (p.Asp10780Tyr)
c.13954G>T (p.Asp4652Tyr)
c.35449G>T (p.Asp11817Tyr)
c.35446G>T (p.Asp11816Tyr)
c.34879G>T (p.Asp11627Tyr)
c.32221G>T (p.Asp10741Tyr)
c.32140G>T (p.Asp10714Tyr)
c.13903G>T (p.Asp4635Tyr)
c.3757G>T (p.Asp1253Tyr)
2g.178636719C=CA1310558428TTNc.33304G= (p.Asp11102=)
c.14389G= (p.Asp4797=)
c.14188G= (p.Asp4730=)
c.13813G= (p.Asp4605=)
c.41008G= (p.Asp13670=)
c.36085G= (p.Asp12029=)
c.40105G= (p.Asp13369=)
c.13999G= (p.Asp4667=)
c.13858G= (p.Asp4620=)
c.39901G= (p.Asp13301=)
c.35299G= (p.Asp11767=)
c.35296G= (p.Asp11766=)
c.32338G= (p.Asp10780=)
c.13954G= (p.Asp4652=)
c.35449G= (p.Asp11817=)
c.35446G= (p.Asp11816=)
c.34879G= (p.Asp11627=)
c.32221G= (p.Asp10741=)
c.32140G= (p.Asp10714=)
c.13903G= (p.Asp4635=)
c.3757G= (p.Asp1253=)
2g.178636719C>GCA349661790TTNc.33304G>C (p.Asp11102His)
c.14389G>C (p.Asp4797His)
c.14188G>C (p.Asp4730His)
c.13813G>C (p.Asp4605His)
c.41008G>C (p.Asp13670His)
c.36085G>C (p.Asp12029His)
c.40105G>C (p.Asp13369His)
c.13999G>C (p.Asp4667His)
c.13858G>C (p.Asp4620His)
c.39901G>C (p.Asp13301His)
c.35299G>C (p.Asp11767His)
c.35296G>C (p.Asp11766His)
c.32338G>C (p.Asp10780His)
c.13954G>C (p.Asp4652His)
c.35449G>C (p.Asp11817His)
c.35446G>C (p.Asp11816His)
c.34879G>C (p.Asp11627His)
c.32221G>C (p.Asp10741His)
c.32140G>C (p.Asp10714His)
c.13903G>C (p.Asp4635His)
c.3757G>C (p.Asp1253His)
2g.178636719C>TCA349661791TTNc.33304G>A (p.Asp11102Asn)
c.14389G>A (p.Asp4797Asn)
c.14188G>A (p.Asp4730Asn)
c.13813G>A (p.Asp4605Asn)
c.41008G>A (p.Asp13670Asn)
c.36085G>A (p.Asp12029Asn)
c.40105G>A (p.Asp13369Asn)
c.13999G>A (p.Asp4667Asn)
c.13858G>A (p.Asp4620Asn)
c.39901G>A (p.Asp13301Asn)
c.35299G>A (p.Asp11767Asn)
c.35296G>A (p.Asp11766Asn)
c.32338G>A (p.Asp10780Asn)
c.13954G>A (p.Asp4652Asn)
c.35449G>A (p.Asp11817Asn)
c.35446G>A (p.Asp11816Asn)
c.34879G>A (p.Asp11627Asn)
c.32221G>A (p.Asp10741Asn)
c.32140G>A (p.Asp10714Asn)
c.13903G>A (p.Asp4635Asn)
c.3757G>A (p.Asp1253Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178636719_178636722delinsCAGGCA1310558427TTNc.33301_33304delinsCCTG (p.Pro11101=)
c.14386_14389delinsCCTG (p.Pro4796=)
c.14185_14188delinsCCTG (p.Pro4729=)
c.13810_13813delinsCCTG (p.Pro4604=)
c.41005_41008delinsCCTG (p.Pro13669=)
c.36082_36085delinsCCTG (p.Pro12028=)
c.40102_40105delinsCCTG (p.Pro13368=)
c.13996_13999delinsCCTG (p.Pro4666=)
c.13855_13858delinsCCTG (p.Pro4619=)
c.39898_39901delinsCCTG (p.Pro13300=)
c.35296_35299delinsCCTG (p.Pro11766=)
c.35293_35296delinsCCTG (p.Pro11765=)
c.32335_32338delinsCCTG (p.Pro10779=)
c.13951_13954delinsCCTG (p.Pro4651=)
c.35446_35449delinsCCTG (p.Pro11816=)
c.35443_35446delinsCCTG (p.Pro11815=)
c.34876_34879delinsCCTG (p.Pro11626=)
c.32218_32221delinsCCTG (p.Pro10740=)
c.32137_32140delinsCCTG (p.Pro10713=)
c.13900_13903delinsCCTG (p.Pro4634=)
c.3754_3757delinsCCTG (p.Pro1252=)
2g.178636720A=CA1310558429TTNc.33303T= (p.Pro11101=)
c.14388T= (p.Pro4796=)
c.14187T= (p.Pro4729=)
c.13812T= (p.Pro4604=)
c.41007T= (p.Pro13669=)
c.36084T= (p.Pro12028=)
c.40104T= (p.Pro13368=)
c.13998T= (p.Pro4666=)
c.13857T= (p.Pro4619=)
c.39900T= (p.Pro13300=)
c.35298T= (p.Pro11766=)
c.35295T= (p.Pro11765=)
c.32337T= (p.Pro10779=)
c.13953T= (p.Pro4651=)
c.35448T= (p.Pro11816=)
c.35445T= (p.Pro11815=)
c.34878T= (p.Pro11626=)
c.32220T= (p.Pro10740=)
c.32139T= (p.Pro10713=)
c.13902T= (p.Pro4634=)
c.3756T= (p.Pro1252=)
2g.178636720A>CCA430114714TTNc.33303T>G (p.Pro11101=)
c.14388T>G (p.Pro4796=)
c.14187T>G (p.Pro4729=)
c.13812T>G (p.Pro4604=)
c.41007T>G (p.Pro13669=)
c.36084T>G (p.Pro12028=)
c.40104T>G (p.Pro13368=)
c.13998T>G (p.Pro4666=)
c.13857T>G (p.Pro4619=)
c.39900T>G (p.Pro13300=)
c.35298T>G (p.Pro11766=)
c.35295T>G (p.Pro11765=)
c.32337T>G (p.Pro10779=)
c.13953T>G (p.Pro4651=)
c.35448T>G (p.Pro11816=)
c.35445T>G (p.Pro11815=)
c.34878T>G (p.Pro11626=)
c.32220T>G (p.Pro10740=)
c.32139T>G (p.Pro10713=)
c.13902T>G (p.Pro4634=)
c.3756T>G (p.Pro1252=)
2g.178636720A>GCA1996324TTNc.33303T>C (p.Pro11101=)
c.14388T>C (p.Pro4796=)
c.14187T>C (p.Pro4729=)
c.13812T>C (p.Pro4604=)
c.41007T>C (p.Pro13669=)
c.36084T>C (p.Pro12028=)
c.40104T>C (p.Pro13368=)
c.13998T>C (p.Pro4666=)
c.13857T>C (p.Pro4619=)
c.39900T>C (p.Pro13300=)
c.35298T>C (p.Pro11766=)
c.35295T>C (p.Pro11765=)
c.32337T>C (p.Pro10779=)
c.13953T>C (p.Pro4651=)
c.35448T>C (p.Pro11816=)
c.35445T>C (p.Pro11815=)
c.34878T>C (p.Pro11626=)
c.32220T>C (p.Pro10740=)
c.32139T>C (p.Pro10713=)
c.13902T>C (p.Pro4634=)
c.3756T>C (p.Pro1252=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178636720A>TCA430114713TTNc.33303T>A (p.Pro11101=)
c.14388T>A (p.Pro4796=)
c.14187T>A (p.Pro4729=)
c.13812T>A (p.Pro4604=)
c.41007T>A (p.Pro13669=)
c.36084T>A (p.Pro12028=)
c.40104T>A (p.Pro13368=)
c.13998T>A (p.Pro4666=)
c.13857T>A (p.Pro4619=)
c.39900T>A (p.Pro13300=)
c.35298T>A (p.Pro11766=)
c.35295T>A (p.Pro11765=)
c.32337T>A (p.Pro10779=)
c.13953T>A (p.Pro4651=)
c.35448T>A (p.Pro11816=)
c.35445T>A (p.Pro11815=)
c.34878T>A (p.Pro11626=)
c.32220T>A (p.Pro10740=)
c.32139T>A (p.Pro10713=)
c.13902T>A (p.Pro4634=)
c.3756T>A (p.Pro1252=)
2g.178636723_178636725delCA1996323TTNc.33301_33303del (p.Pro11101del)
c.14386_14388del (p.Pro4796del)
c.14185_14187del (p.Pro4729del)
c.13810_13812del (p.Pro4604del)
c.41005_41007del (p.Pro13669del)
c.36082_36084del (p.Pro12028del)
c.40102_40104del (p.Pro13368del)
c.13996_13998del (p.Pro4666del)
c.13855_13857del (p.Pro4619del)
c.39898_39900del (p.Pro13300del)
c.35296_35298del (p.Pro11766del)
c.35293_35295del (p.Pro11765del)
c.32335_32337del (p.Pro10779del)
c.13951_13953del (p.Pro4651del)
c.35446_35448del (p.Pro11816del)
c.35443_35445del (p.Pro11815del)
c.34876_34878del (p.Pro11626del)
c.32218_32220del (p.Pro10740del)
c.32137_32139del (p.Pro10713del)
c.13900_13902del (p.Pro4634del)
c.3754_3756del (p.Pro1252del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched