Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.23330964T>ACA483157790SACSc.12912A>T (p.Pro4304=)
c.2186-1480A>T (p.=)
c.2432-1480A>T (p.=)
c.10662A>T (p.Pro3554=)
n.1058-1480A>T (p.=)
n.2130-1480A>T
c.12471A>T (p.Pro4157=)
c.12939A>T (p.Pro4313=)
c.12963A>T (p.Pro4321=)
c.12930A>T (p.Pro4310=)
c.12903A>T (p.Pro4301=)
13g.23330964T>CCA483157791SACSc.12912A>G (p.Pro4304=)
c.2186-1480A>G (p.=)
c.2432-1480A>G (p.=)
c.10662A>G (p.Pro3554=)
n.1058-1480A>G (p.=)
n.2130-1480A>G
c.12471A>G (p.Pro4157=)
c.12939A>G (p.Pro4313=)
c.12963A>G (p.Pro4321=)
c.12930A>G (p.Pro4310=)
c.12903A>G (p.Pro4301=)
13g.23330964T>GCA483157792SACSc.12912A>C (p.Pro4304=)
c.2186-1480A>C (p.=)
c.2432-1480A>C (p.=)
c.10662A>C (p.Pro3554=)
n.1058-1480A>C (p.=)
n.2130-1480A>C
c.12471A>C (p.Pro4157=)
c.12939A>C (p.Pro4313=)
c.12963A>C (p.Pro4321=)
c.12930A>C (p.Pro4310=)
c.12903A>C (p.Pro4301=)
13g.23330965G>ACA387506512SACSc.12911C>T (p.Pro4304Leu)
c.2186-1481C>T (p.=)
c.2432-1481C>T (p.=)
c.10661C>T (p.Pro3554Leu)
n.1058-1481C>T (p.=)
n.2130-1481C>T
c.12470C>T (p.Pro4157Leu)
c.12938C>T (p.Pro4313Leu)
c.12962C>T (p.Pro4321Leu)
c.12929C>T (p.Pro4310Leu)
c.12902C>T (p.Pro4301Leu)
13g.23330965G>CCA387506514SACSc.12911C>G (p.Pro4304Arg)
c.2186-1481C>G (p.=)
c.2432-1481C>G (p.=)
c.10661C>G (p.Pro3554Arg)
n.1058-1481C>G (p.=)
n.2130-1481C>G
c.12470C>G (p.Pro4157Arg)
c.12938C>G (p.Pro4313Arg)
c.12962C>G (p.Pro4321Arg)
c.12929C>G (p.Pro4310Arg)
c.12902C>G (p.Pro4301Arg)
13g.23330965G>TCA387506516SACSc.12911C>A (p.Pro4304Gln)
c.2186-1481C>A (p.=)
c.2432-1481C>A (p.=)
c.10661C>A (p.Pro3554Gln)
n.1058-1481C>A (p.=)
n.2130-1481C>A
c.12470C>A (p.Pro4157Gln)
c.12938C>A (p.Pro4313Gln)
c.12962C>A (p.Pro4321Gln)
c.12929C>A (p.Pro4310Gln)
c.12902C>A (p.Pro4301Gln)
13g.23330966G>ACA387506517SACSc.12910C>T (p.Pro4304Ser)
c.2186-1482C>T (p.=)
c.2432-1482C>T (p.=)
c.10660C>T (p.Pro3554Ser)
n.1058-1482C>T (p.=)
n.2130-1482C>T
c.12469C>T (p.Pro4157Ser)
c.12937C>T (p.Pro4313Ser)
c.12961C>T (p.Pro4321Ser)
c.12928C>T (p.Pro4310Ser)
c.12901C>T (p.Pro4301Ser)
13g.23330966G>CCA387506519SACSc.12910C>G (p.Pro4304Ala)
c.2186-1482C>G (p.=)
c.2432-1482C>G (p.=)
c.10660C>G (p.Pro3554Ala)
n.1058-1482C>G (p.=)
n.2130-1482C>G
c.12469C>G (p.Pro4157Ala)
c.12937C>G (p.Pro4313Ala)
c.12961C>G (p.Pro4321Ala)
c.12928C>G (p.Pro4310Ala)
c.12901C>G (p.Pro4301Ala)
13g.23330966G>TCA387506521SACSc.12910C>A (p.Pro4304Thr)
c.2186-1482C>A (p.=)
c.2432-1482C>A (p.=)
c.10660C>A (p.Pro3554Thr)
n.1058-1482C>A (p.=)
n.2130-1482C>A
c.12469C>A (p.Pro4157Thr)
c.12937C>A (p.Pro4313Thr)
c.12961C>A (p.Pro4321Thr)
c.12928C>A (p.Pro4310Thr)
c.12901C>A (p.Pro4301Thr)
13g.23330967T>ACA387506524SACSc.12909A>T (p.Leu4303Phe)
c.2186-1483A>T (p.=)
c.2432-1483A>T (p.=)
c.10659A>T (p.Leu3553Phe)
n.1058-1483A>T (p.=)
n.2130-1483A>T
c.12468A>T (p.Leu4156Phe)
c.12936A>T (p.Leu4312Phe)
c.12960A>T (p.Leu4320Phe)
c.12927A>T (p.Leu4309Phe)
c.12900A>T (p.Leu4300Phe)
13g.23330967T>CCA246648257SACSc.12909A>G (p.Leu4303=)
c.2186-1483A>G (p.=)
c.2432-1483A>G (p.=)
c.10659A>G (p.Leu3553=)
n.1058-1483A>G (p.=)
n.2130-1483A>G
c.12468A>G (p.Leu4156=)
c.12936A>G (p.Leu4312=)
c.12960A>G (p.Leu4320=)
c.12927A>G (p.Leu4309=)
c.12900A>G (p.Leu4300=)
ClinVar dbSNP COSMIC COSMIC
13g.23330967T>GCA387506526SACSc.12909A>C (p.Leu4303Phe)
c.2186-1483A>C (p.=)
c.2432-1483A>C (p.=)
c.10659A>C (p.Leu3553Phe)
n.1058-1483A>C (p.=)
n.2130-1483A>C
c.12468A>C (p.Leu4156Phe)
c.12936A>C (p.Leu4312Phe)
c.12960A>C (p.Leu4320Phe)
c.12927A>C (p.Leu4309Phe)
c.12900A>C (p.Leu4300Phe)
13g.23330967T=CA2078628858SACSc.12909A= (p.Leu4303=)
c.2186-1483A= (p.=)
c.2432-1483A= (p.=)
c.10659A= (p.Leu3553=)
n.1058-1483A= (p.=)
n.2130-1483A=
c.12468A= (p.Leu4156=)
c.12936A= (p.Leu4312=)
c.12960A= (p.Leu4320=)
c.12927A= (p.Leu4309=)
c.12900A= (p.Leu4300=)
13g.23330968A=CA2078628864SACSc.12908T= (p.Leu4303=)
c.2186-1484T= (p.=)
c.2432-1484T= (p.=)
c.10658T= (p.Leu3553=)
n.1058-1484T= (p.=)
n.2130-1484T=
c.12467T= (p.Leu4156=)
c.12935T= (p.Leu4312=)
c.12959T= (p.Leu4320=)
c.12926T= (p.Leu4309=)
c.12899T= (p.Leu4300=)
13g.23330968A>CCA387506529SACSc.12908T>G (p.Leu4303Ter)
c.2186-1484T>G (p.=)
c.2432-1484T>G (p.=)
c.10658T>G (p.Leu3553Ter)
n.1058-1484T>G (p.=)
n.2130-1484T>G
c.12467T>G (p.Leu4156Ter)
c.12935T>G (p.Leu4312Ter)
c.12959T>G (p.Leu4320Ter)
c.12926T>G (p.Leu4309Ter)
c.12899T>G (p.Leu4300Ter)
13g.23330968A>GCA387506535SACSc.12908T>C (p.Leu4303Ser)
c.2186-1484T>C (p.=)
c.2432-1484T>C (p.=)
c.10658T>C (p.Leu3553Ser)
n.1058-1484T>C (p.=)
n.2130-1484T>C
c.12467T>C (p.Leu4156Ser)
c.12935T>C (p.Leu4312Ser)
c.12959T>C (p.Leu4320Ser)
c.12926T>C (p.Leu4309Ser)
c.12899T>C (p.Leu4300Ser)
13g.23330968A>TCA387506533SACSc.12908T>A (p.Leu4303Ter)
c.2186-1484T>A (p.=)
c.2432-1484T>A (p.=)
c.10658T>A (p.Leu3553Ter)
n.1058-1484T>A (p.=)
n.2130-1484T>A
c.12467T>A (p.Leu4156Ter)
c.12935T>A (p.Leu4312Ter)
c.12959T>A (p.Leu4320Ter)
c.12926T>A (p.Leu4309Ter)
c.12899T>A (p.Leu4300Ter)
ClinVar
13g.23330969A>CCA387506538SACSc.12907T>G (p.Leu4303Val)
c.2186-1485T>G (p.=)
c.2432-1485T>G (p.=)
c.10657T>G (p.Leu3553Val)
n.1058-1485T>G (p.=)
n.2130-1485T>G
c.12466T>G (p.Leu4156Val)
c.12934T>G (p.Leu4312Val)
c.12958T>G (p.Leu4320Val)
c.12925T>G (p.Leu4309Val)
c.12898T>G (p.Leu4300Val)
13g.23330969A>GCA483157794SACSc.12907T>C (p.Leu4303=)
c.2186-1485T>C (p.=)
c.2432-1485T>C (p.=)
c.10657T>C (p.Leu3553=)
n.1058-1485T>C (p.=)
n.2130-1485T>C
c.12466T>C (p.Leu4156=)
c.12934T>C (p.Leu4312=)
c.12958T>C (p.Leu4320=)
c.12925T>C (p.Leu4309=)
c.12898T>C (p.Leu4300=)
13g.23330969A>TCA387506540SACSc.12907T>A (p.Leu4303Ile)
c.2186-1485T>A (p.=)
c.2432-1485T>A (p.=)
c.10657T>A (p.Leu3553Ile)
n.1058-1485T>A (p.=)
n.2130-1485T>A
c.12466T>A (p.Leu4156Ile)
c.12934T>A (p.Leu4312Ile)
c.12958T>A (p.Leu4320Ile)
c.12925T>A (p.Leu4309Ile)
c.12898T>A (p.Leu4300Ile)
13g.23330970A>CCA483157798SACSc.12906T>G (p.Ser4302=)
c.2186-1486T>G (p.=)
c.2432-1486T>G (p.=)
c.10656T>G (p.Ser3552=)
n.1058-1486T>G (p.=)
n.2130-1486T>G
c.12465T>G (p.Ser4155=)
c.12933T>G (p.Ser4311=)
c.12957T>G (p.Ser4319=)
c.12924T>G (p.Ser4308=)
c.12897T>G (p.Ser4299=)
13g.23330970A>GCA483157797SACSc.12906T>C (p.Ser4302=)
c.2186-1486T>C (p.=)
c.2432-1486T>C (p.=)
c.10656T>C (p.Ser3552=)
n.1058-1486T>C (p.=)
n.2130-1486T>C
c.12465T>C (p.Ser4155=)
c.12933T>C (p.Ser4311=)
c.12957T>C (p.Ser4319=)
c.12924T>C (p.Ser4308=)
c.12897T>C (p.Ser4299=)
13g.23330970A>TCA483157795SACSc.12906T>A (p.Ser4302=)
c.2186-1486T>A (p.=)
c.2432-1486T>A (p.=)
c.10656T>A (p.Ser3552=)
n.1058-1486T>A (p.=)
n.2130-1486T>A
c.12465T>A (p.Ser4155=)
c.12933T>A (p.Ser4311=)
c.12957T>A (p.Ser4319=)
c.12924T>A (p.Ser4308=)
c.12897T>A (p.Ser4299=)
13g.23330971G>ACA6910053SACSc.12905C>T (p.Ser4302Phe)
c.2186-1487C>T (p.=)
c.2432-1487C>T (p.=)
c.10655C>T (p.Ser3552Phe)
n.1058-1487C>T (p.=)
n.2130-1487C>T
c.12464C>T (p.Ser4155Phe)
c.12932C>T (p.Ser4311Phe)
c.12956C>T (p.Ser4319Phe)
c.12923C>T (p.Ser4308Phe)
c.12896C>T (p.Ser4299Phe)
dbSNP ExAC gnomAD
13g.23330971G>CCA387506543SACSc.12905C>G (p.Ser4302Cys)
c.2186-1487C>G (p.=)
c.2432-1487C>G (p.=)
c.10655C>G (p.Ser3552Cys)
n.1058-1487C>G (p.=)
n.2130-1487C>G
c.12464C>G (p.Ser4155Cys)
c.12932C>G (p.Ser4311Cys)
c.12956C>G (p.Ser4319Cys)
c.12923C>G (p.Ser4308Cys)
c.12896C>G (p.Ser4299Cys)
gnomAD
13g.23330971G=CA2078628878SACSc.12905C= (p.Ser4302=)
c.2186-1487C= (p.=)
c.2432-1487C= (p.=)
c.10655C= (p.Ser3552=)
n.1058-1487C= (p.=)
n.2130-1487C=
c.12464C= (p.Ser4155=)
c.12932C= (p.Ser4311=)
c.12956C= (p.Ser4319=)
c.12923C= (p.Ser4308=)
c.12896C= (p.Ser4299=)
13g.23330971G>TCA387506545SACSc.12905C>A (p.Ser4302Tyr)
c.2186-1487C>A (p.=)
c.2432-1487C>A (p.=)
c.10655C>A (p.Ser3552Tyr)
n.1058-1487C>A (p.=)
n.2130-1487C>A
c.12464C>A (p.Ser4155Tyr)
c.12932C>A (p.Ser4311Tyr)
c.12956C>A (p.Ser4319Tyr)
c.12923C>A (p.Ser4308Tyr)
c.12896C>A (p.Ser4299Tyr)
ClinVar COSMIC
13g.23330972A>CCA387506547SACSc.12904T>G (p.Ser4302Ala)
c.2186-1488T>G (p.=)
c.2432-1488T>G (p.=)
c.10654T>G (p.Ser3552Ala)
n.1058-1488T>G (p.=)
n.2130-1488T>G
c.12463T>G (p.Ser4155Ala)
c.12931T>G (p.Ser4311Ala)
c.12955T>G (p.Ser4319Ala)
c.12922T>G (p.Ser4308Ala)
c.12895T>G (p.Ser4299Ala)
COSMIC COSMIC
13g.23330972A>GCA387506549SACSc.12904T>C (p.Ser4302Pro)
c.2186-1488T>C (p.=)
c.2432-1488T>C (p.=)
c.10654T>C (p.Ser3552Pro)
n.1058-1488T>C (p.=)
n.2130-1488T>C
c.12463T>C (p.Ser4155Pro)
c.12931T>C (p.Ser4311Pro)
c.12955T>C (p.Ser4319Pro)
c.12922T>C (p.Ser4308Pro)
c.12895T>C (p.Ser4299Pro)
13g.23330972A>TCA387506551SACSc.12904T>A (p.Ser4302Thr)
c.2186-1488T>A (p.=)
c.2432-1488T>A (p.=)
c.10654T>A (p.Ser3552Thr)
n.1058-1488T>A (p.=)
n.2130-1488T>A
c.12463T>A (p.Ser4155Thr)
c.12931T>A (p.Ser4311Thr)
c.12955T>A (p.Ser4319Thr)
c.12922T>A (p.Ser4308Thr)
c.12895T>A (p.Ser4299Thr)
13g.23330973A>CCA387506553SACSc.12903T>G (p.Asn4301Lys)
c.2186-1489T>G (p.=)
c.2432-1489T>G (p.=)
c.10653T>G (p.Asn3551Lys)
n.1058-1489T>G (p.=)
n.2130-1489T>G
c.12462T>G (p.Asn4154Lys)
c.12930T>G (p.Asn4310Lys)
c.12954T>G (p.Asn4318Lys)
c.12921T>G (p.Asn4307Lys)
c.12894T>G (p.Asn4298Lys)
13g.23330973A>GCA483157800SACSc.12903T>C (p.Asn4301=)
c.2186-1489T>C (p.=)
c.2432-1489T>C (p.=)
c.10653T>C (p.Asn3551=)
n.1058-1489T>C (p.=)
n.2130-1489T>C
c.12462T>C (p.Asn4154=)
c.12930T>C (p.Asn4310=)
c.12954T>C (p.Asn4318=)
c.12921T>C (p.Asn4307=)
c.12894T>C (p.Asn4298=)
13g.23330973A>TCA387506555SACSc.12903T>A (p.Asn4301Lys)
c.2186-1489T>A (p.=)
c.2432-1489T>A (p.=)
c.10653T>A (p.Asn3551Lys)
n.1058-1489T>A (p.=)
n.2130-1489T>A
c.12462T>A (p.Asn4154Lys)
c.12930T>A (p.Asn4310Lys)
c.12954T>A (p.Asn4318Lys)
c.12921T>A (p.Asn4307Lys)
c.12894T>A (p.Asn4298Lys)
13g.23330974T>ACA387506558SACSc.12902A>T (p.Asn4301Ile)
c.2186-1490A>T (p.=)
c.2432-1490A>T (p.=)
c.10652A>T (p.Asn3551Ile)
n.1058-1490A>T (p.=)
n.2130-1490A>T
c.12461A>T (p.Asn4154Ile)
c.12929A>T (p.Asn4310Ile)
c.12953A>T (p.Asn4318Ile)
c.12920A>T (p.Asn4307Ile)
c.12893A>T (p.Asn4298Ile)
13g.23330974T>CCA6910054SACSc.12902A>G (p.Asn4301Ser)
c.2186-1490A>G (p.=)
c.2432-1490A>G (p.=)
c.10652A>G (p.Asn3551Ser)
n.1058-1490A>G (p.=)
n.2130-1490A>G
c.12461A>G (p.Asn4154Ser)
c.12929A>G (p.Asn4310Ser)
c.12953A>G (p.Asn4318Ser)
c.12920A>G (p.Asn4307Ser)
c.12893A>G (p.Asn4298Ser)
dbSNP ExAC gnomAD
13g.23330974T>GCA387506561SACSc.12902A>C (p.Asn4301Thr)
c.2186-1490A>C (p.=)
c.2432-1490A>C (p.=)
c.10652A>C (p.Asn3551Thr)
n.1058-1490A>C (p.=)
n.2130-1490A>C
c.12461A>C (p.Asn4154Thr)
c.12929A>C (p.Asn4310Thr)
c.12953A>C (p.Asn4318Thr)
c.12920A>C (p.Asn4307Thr)
c.12893A>C (p.Asn4298Thr)
13g.23330974T=CA2078628887SACSc.12902A= (p.Asn4301=)
c.2186-1490A= (p.=)
c.2432-1490A= (p.=)
c.10652A= (p.Asn3551=)
n.1058-1490A= (p.=)
n.2130-1490A=
c.12461A= (p.Asn4154=)
c.12929A= (p.Asn4310=)
c.12953A= (p.Asn4318=)
c.12920A= (p.Asn4307=)
c.12893A= (p.Asn4298=)
13g.23330975T>ACA387506563SACSc.12901A>T (p.Asn4301Tyr)
c.2186-1491A>T (p.=)
c.2432-1491A>T (p.=)
c.10651A>T (p.Asn3551Tyr)
n.1058-1491A>T (p.=)
n.2130-1491A>T
c.12460A>T (p.Asn4154Tyr)
c.12928A>T (p.Asn4310Tyr)
c.12952A>T (p.Asn4318Tyr)
c.12919A>T (p.Asn4307Tyr)
c.12892A>T (p.Asn4298Tyr)
13g.23330975T>CCA387506567SACSc.12901A>G (p.Asn4301Asp)
c.2186-1491A>G (p.=)
c.2432-1491A>G (p.=)
c.10651A>G (p.Asn3551Asp)
n.1058-1491A>G (p.=)
n.2130-1491A>G
c.12460A>G (p.Asn4154Asp)
c.12928A>G (p.Asn4310Asp)
c.12952A>G (p.Asn4318Asp)
c.12919A>G (p.Asn4307Asp)
c.12892A>G (p.Asn4298Asp)
13g.23330975T>GCA387506565SACSc.12901A>C (p.Asn4301His)
c.2186-1491A>C (p.=)
c.2432-1491A>C (p.=)
c.10651A>C (p.Asn3551His)
n.1058-1491A>C (p.=)
n.2130-1491A>C
c.12460A>C (p.Asn4154His)
c.12928A>C (p.Asn4310His)
c.12952A>C (p.Asn4318His)
c.12919A>C (p.Asn4307His)
c.12892A>C (p.Asn4298His)
13g.23330976A>CCA483157803SACSc.12900T>G (p.Val4300=)
c.2186-1492T>G (p.=)
c.2432-1492T>G (p.=)
c.10650T>G (p.Val3550=)
n.1058-1492T>G (p.=)
n.2130-1492T>G
c.12459T>G (p.Val4153=)
c.12927T>G (p.Val4309=)
c.12951T>G (p.Val4317=)
c.12918T>G (p.Val4306=)
c.12891T>G (p.Val4297=)
13g.23330976A>GCA483157804SACSc.12900T>C (p.Val4300=)
c.2186-1492T>C (p.=)
c.2432-1492T>C (p.=)
c.10650T>C (p.Val3550=)
n.1058-1492T>C (p.=)
n.2130-1492T>C
c.12459T>C (p.Val4153=)
c.12927T>C (p.Val4309=)
c.12951T>C (p.Val4317=)
c.12918T>C (p.Val4306=)
c.12891T>C (p.Val4297=)
13g.23330976A>TCA483157805SACSc.12900T>A (p.Val4300=)
c.2186-1492T>A (p.=)
c.2432-1492T>A (p.=)
c.10650T>A (p.Val3550=)
n.1058-1492T>A (p.=)
n.2130-1492T>A
c.12459T>A (p.Val4153=)
c.12927T>A (p.Val4309=)
c.12951T>A (p.Val4317=)
c.12918T>A (p.Val4306=)
c.12891T>A (p.Val4297=)
13g.23330977A=CA2078628894SACSc.12899T= (p.Val4300=)
c.2186-1493T= (p.=)
c.2432-1493T= (p.=)
c.10649T= (p.Val3550=)
n.1058-1493T= (p.=)
n.2130-1493T=
c.12458T= (p.Val4153=)
c.12926T= (p.Val4309=)
c.12950T= (p.Val4317=)
c.12917T= (p.Val4306=)
c.12890T= (p.Val4297=)
13g.23330977A>CCA387506569SACSc.12899T>G (p.Val4300Gly)
c.2186-1493T>G (p.=)
c.2432-1493T>G (p.=)
c.10649T>G (p.Val3550Gly)
n.1058-1493T>G (p.=)
n.2130-1493T>G
c.12458T>G (p.Val4153Gly)
c.12926T>G (p.Val4309Gly)
c.12950T>G (p.Val4317Gly)
c.12917T>G (p.Val4306Gly)
c.12890T>G (p.Val4297Gly)
13g.23330977A>GCA387506572SACSc.12899T>C (p.Val4300Ala)
c.2186-1493T>C (p.=)
c.2432-1493T>C (p.=)
c.10649T>C (p.Val3550Ala)
n.1058-1493T>C (p.=)
n.2130-1493T>C
c.12458T>C (p.Val4153Ala)
c.12926T>C (p.Val4309Ala)
c.12950T>C (p.Val4317Ala)
c.12917T>C (p.Val4306Ala)
c.12890T>C (p.Val4297Ala)
13g.23330977A>TCA387506573SACSc.12899T>A (p.Val4300Asp)
c.2186-1493T>A (p.=)
c.2432-1493T>A (p.=)
c.10649T>A (p.Val3550Asp)
n.1058-1493T>A (p.=)
n.2130-1493T>A
c.12458T>A (p.Val4153Asp)
c.12926T>A (p.Val4309Asp)
c.12950T>A (p.Val4317Asp)
c.12917T>A (p.Val4306Asp)
c.12890T>A (p.Val4297Asp)
13g.23330978C>ACA387506577SACSc.12898G>T (p.Val4300Phe)
c.2186-1494G>T (p.=)
c.2432-1494G>T (p.=)
c.10648G>T (p.Val3550Phe)
n.1058-1494G>T (p.=)
n.2130-1494G>T
c.12457G>T (p.Val4153Phe)
c.12925G>T (p.Val4309Phe)
c.12949G>T (p.Val4317Phe)
c.12916G>T (p.Val4306Phe)
c.12889G>T (p.Val4297Phe)
13g.23330978C>GCA387506578SACSc.12898G>C (p.Val4300Leu)
c.2186-1494G>C (p.=)
c.2432-1494G>C (p.=)
c.10648G>C (p.Val3550Leu)
n.1058-1494G>C (p.=)
n.2130-1494G>C
c.12457G>C (p.Val4153Leu)
c.12925G>C (p.Val4309Leu)
c.12949G>C (p.Val4317Leu)
c.12916G>C (p.Val4306Leu)
c.12889G>C (p.Val4297Leu)
13g.23330978C>TCA387506579SACSc.12898G>A (p.Val4300Ile)
c.2186-1494G>A (p.=)
c.2432-1494G>A (p.=)
c.10648G>A (p.Val3550Ile)
n.1058-1494G>A (p.=)
n.2130-1494G>A
c.12457G>A (p.Val4153Ile)
c.12925G>A (p.Val4309Ile)
c.12949G>A (p.Val4317Ile)
c.12916G>A (p.Val4306Ile)
c.12889G>A (p.Val4297Ile)

Number of alleles fetched