Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.31072901G>ACA2575500562AP4S1c.226-4G>A (n.226-4G>A)
c.127-4G>A (n.127-4G>A)
14g.31072901G>TCA2515599043AP4S1c.226-4G>T (n.226-4G>T)
c.127-4G>T (n.127-4G>T)
14g.31072902T>CCA2570794281AP4S1c.226-3T>C (n.226-3T>C)
c.127-3T>C (n.127-3T>C)
14g.31072903A>CCA389360296AP4S1c.226-2A>C (n.226-2A>C)
c.127-2A>C (n.127-2A>C)
14g.31072903A>GCA389360292AP4S1c.226-2A>G (n.226-2A>G)
c.127-2A>G (n.127-2A>G)
 ClinVar dbSNP gnomAD v4
14g.31072903A>TCA389360294AP4S1c.226-2A>T (n.226-2A>T)
c.127-2A>T (n.127-2A>T)
14g.31072904G>ACA389360298AP4S1c.226-1G>A (n.226-1G>A)
c.127-1G>A (n.127-1G>A)
14g.31072904G>CCA389360299AP4S1c.226-1G>C (n.226-1G>C)
c.127-1G>C (n.127-1G>C)
14g.31072904G>TCA389360301AP4S1c.226-1G>T (n.226-1G>T)
c.127-1G>T (n.127-1G>T)
14g.31072905A>CCA389360307AP4S1c.226A>C (p.Asn76His)
c.127A>C (p.Asn43His)
14g.31072905A>GCA389360305AP4S1c.226A>G (p.Asn76Asp)
c.127A>G (p.Asn43Asp)
 gnomAD v4
14g.31072905A>TCA389360303AP4S1c.226A>T (p.Asn76Tyr)
c.127A>T (p.Asn43Tyr)
14g.31072906A>CCA389360313AP4S1c.227A>C (p.Asn76Thr)
c.128A>C (p.Asn43Thr)
14g.31072906A>GCA389360315AP4S1c.227A>G (p.Asn76Ser)
c.128A>G (p.Asn43Ser)
14g.31072906A>TCA389360317AP4S1c.227A>T (p.Asn76Ile)
c.128A>T (p.Asn43Ile)
14g.31072907C>ACA389360319AP4S1c.228C>A (p.Asn76Lys)
c.129C>A (p.Asn43Lys)
14g.31072907C=CA2127059273AP4S1c.228C= (p.Asn76=)
c.129C= (p.Asn43=)
14g.31072907C>GCA389360321AP4S1c.228C>G (p.Asn76Lys)
c.129C>G (p.Asn43Lys)
14g.31072907C>TCA7144213AP4S1c.228C>T (p.Asn76=)
c.129C>T (p.Asn43=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.31072908G>ACA7144214AP4S1c.229G>A (p.Glu77Lys)
c.130G>A (p.Glu44Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
14g.31072908G>CCA389360327AP4S1c.229G>C (p.Glu77Gln)
c.130G>C (p.Glu44Gln)
14g.31072908G=CA2127059286AP4S1c.229G= (p.Glu77=)
c.130G= (p.Glu44=)
14g.31072908G>TCA389360325AP4S1c.229G>T (p.Glu77Ter)
c.130G>T (p.Glu44Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.31072909A>CCA389360329AP4S1c.230A>C (p.Glu77Ala)
c.131A>C (p.Glu44Ala)
14g.31072909A>GCA389360331AP4S1c.230A>G (p.Glu77Gly)
c.131A>G (p.Glu44Gly)
 gnomAD v4
14g.31072909A>TCA389360333AP4S1c.230A>T (p.Glu77Val)
c.131A>T (p.Glu44Val)
14g.31072910G>ACA485833945AP4S1c.231G>A (p.Glu77=)
c.132G>A (p.Glu44=)
 gnomAD v4
14g.31072910G>CCA389360335AP4S1c.231G>C (p.Glu77Asp)
c.132G>C (p.Glu44Asp)
 gnomAD v4
14g.31072910G>TCA389360336AP4S1c.231G>T (p.Glu77Asp)
c.132G>T (p.Glu44Asp)
14g.31072911A>CCA389360337AP4S1c.232A>C (p.Met78Leu)
c.133A>C (p.Met45Leu)
14g.31072911A>GCA389360338AP4S1c.232A>G (p.Met78Val)
c.133A>G (p.Met45Val)
14g.31072911A>TCA389360340AP4S1c.232A>T (p.Met78Leu)
c.133A>T (p.Met45Leu)
14g.31072912T>ACA389360342AP4S1c.233T>A (p.Met78Lys)
c.134T>A (p.Met45Lys)
14g.31072912T>CCA389360344AP4S1c.233T>C (p.Met78Thr)
c.134T>C (p.Met45Thr)
14g.31072912T>GCA389360346AP4S1c.233T>G (p.Met78Arg)
c.134T>G (p.Met45Arg)
14g.31072913G>ACA389360350AP4S1c.234G>A (p.Met78Ile)
c.135G>A (p.Met45Ile)
 dbSNP gnomAD v2 gnomAD v4
14g.31072913G>CCA389360352AP4S1c.234G>C (p.Met78Ile)
c.135G>C (p.Met45Ile)
14g.31072913G=CA2127059293AP4S1c.234G= (p.Met78=)
c.135G= (p.Met45=)
14g.31072913G>TCA389360348AP4S1c.234G>T (p.Met78Ile)
c.135G>T (p.Met45Ile)
 gnomAD v4
14g.31072914G>ACA389360358AP4S1c.235G>A (p.Ala79Thr)
c.136G>A (p.Ala46Thr)
14g.31072914G>CCA389360354AP4S1c.235G>C (p.Ala79Pro)
c.136G>C (p.Ala46Pro)
14g.31072914G=CA2127059297AP4S1c.235G= (p.Ala79=)
c.136G= (p.Ala46=)
14g.31072914G>TCA389360356AP4S1c.235G>T (p.Ala79Ser)
c.136G>T (p.Ala46Ser)
 dbSNP
14g.31072915C>ACA389360360AP4S1c.236C>A (p.Ala79Asp)
c.137C>A (p.Ala46Asp)
14g.31072915C>GCA389360362AP4S1c.236C>G (p.Ala79Gly)
c.137C>G (p.Ala46Gly)
14g.31072915C>TCA389360364AP4S1c.236C>T (p.Ala79Val)
c.137C>T (p.Ala46Val)
14g.31072916T>ACA485834040AP4S1c.237T>A (p.Ala79=)
c.138T>A (p.Ala46=)
14g.31072916T>CCA485834041AP4S1c.237T>C (p.Ala79=)
c.138T>C (p.Ala46=)
 dbSNP gnomAD v2 gnomAD v4
14g.31072916T>GCA485834047AP4S1c.237T>G (p.Ala79=)
c.138T>G (p.Ala46=)
14g.31072916T=CA2127059304AP4S1c.237T= (p.Ala79=)
c.138T= (p.Ala46=)
14g.31072917A>CCA389360366AP4S1c.238A>C (p.Ile80Leu)
c.139A>C (p.Ile47Leu)
14g.31072917A>GCA389360368AP4S1c.238A>G (p.Ile80Val)
c.139A>G (p.Ile47Val)
 gnomAD v4
14g.31072917A>TCA389360370AP4S1c.238A>T (p.Ile80Phe)
c.139A>T (p.Ile47Phe)
14g.31072917_31072918insGCA2695219203AP4S1c.238_239insG (p.Ile80SerfsTer3)
c.139_140insG (p.Ile47SerfsTer3)
14g.31072918T>ACA389360372AP4S1c.239T>A (p.Ile80Asn)
c.140T>A (p.Ile47Asn)
14g.31072918T>CCA389360376AP4S1c.239T>C (p.Ile80Thr)
c.140T>C (p.Ile47Thr)
14g.31072918T>GCA389360374AP4S1c.239T>G (p.Ile80Ser)
c.140T>G (p.Ile47Ser)
14g.31072918_31072919insGCA2573149827AP4S1c.239_240insG (p.Ile80MetfsTer3)
c.140_141insG (p.Ile47MetfsTer3)
 ClinVar dbSNP
14g.31072919T>ACA485834067AP4S1c.240T>A (p.Ile80=)
c.141T>A (p.Ile47=)
14g.31072919T>CCA485834071AP4S1c.240T>C (p.Ile80=)
c.141T>C (p.Ile47=)
14g.31072919T>GCA389360378AP4S1c.240T>G (p.Ile80Met)
c.141T>G (p.Ile47Met)
14g.31072920T>ACA389360380AP4S1c.241T>A (p.Tyr81Asn)
c.142T>A (p.Tyr48Asn)
14g.31072920T>CCA389360382AP4S1c.241T>C (p.Tyr81His)
c.142T>C (p.Tyr48His)
14g.31072920T>GCA389360384AP4S1c.241T>G (p.Tyr81Asp)
c.142T>G (p.Tyr48Asp)
14g.31072921A=CA2127059307AP4S1c.242A= (p.Tyr81=)
c.143A= (p.Tyr48=)
14g.31072921A>CCA389360390AP4S1c.242A>C (p.Tyr81Ser)
c.143A>C (p.Tyr48Ser)
14g.31072921A>GCA389360386AP4S1c.242A>G (p.Tyr81Cys)
c.143A>G (p.Tyr48Cys)
 dbSNP
14g.31072921A>TCA389360388AP4S1c.242A>T (p.Tyr81Phe)
c.143A>T (p.Tyr48Phe)
14g.31072922T>ACA389360392AP4S1c.243T>A (p.Tyr81Ter)
c.144T>A (p.Tyr48Ter)
14g.31072922T>CCA485834095AP4S1c.243T>C (p.Tyr81=)
c.144T>C (p.Tyr48=)
14g.31072922T>GCA389360394AP4S1c.243T>G (p.Tyr81Ter)
c.144T>G (p.Tyr48Ter)
14g.31072923G>ACA389360795AP4S1c.244G>A (p.Glu82Lys)
c.145G>A (p.Glu49Lys)
14g.31072923G>CCA389360796AP4S1c.244G>C (p.Glu82Gln)
c.145G>C (p.Glu49Gln)
14g.31072923G=CA2127059311AP4S1c.244G= (p.Glu82=)
c.145G= (p.Glu49=)
14g.31072923G>TCA7144215AP4S1c.244G>T (p.Glu82Ter)
c.145G>T (p.Glu49Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.31072924A>CCA389360800AP4S1c.245A>C (p.Glu82Ala)
c.146A>C (p.Glu49Ala)
14g.31072924A>GCA389360801AP4S1c.245A>G (p.Glu82Gly)
c.146A>G (p.Glu49Gly)
14g.31072924A>TCA389360803AP4S1c.245A>T (p.Glu82Val)
c.146A>T (p.Glu49Val)
14g.31072925A=CA2127059317AP4S1c.246A= (p.Glu82=)
c.147A= (p.Glu49=)
14g.31072925A>CCA389360805AP4S1c.246A>C (p.Glu82Asp)
c.147A>C (p.Glu49Asp)
14g.31072925A>GCA485835272AP4S1c.246A>G (p.Glu82=)
c.147A>G (p.Glu49=)
 dbSNP gnomAD v4
14g.31072925A>TCA389360807AP4S1c.246A>T (p.Glu82Asp)
c.147A>T (p.Glu49Asp)
14g.31072931_31072934delCA2624457963AP4S1c.252_255del (p.His85ThrfsTer6)
c.153_156del (p.His52ThrfsTer6)
 gnomAD v4
14g.31072926T>ACA389360809AP4S1c.247T>A (p.Phe83Ile)
c.148T>A (p.Phe50Ile)
14g.31072926T>CCA389360810AP4S1c.247T>C (p.Phe83Leu)
c.148T>C (p.Phe50Leu)
14g.31072926T>GCA389360813AP4S1c.247T>G (p.Phe83Val)
c.148T>G (p.Phe50Val)
14g.31072927T>ACA389360815AP4S1c.248T>A (p.Phe83Tyr)
c.149T>A (p.Phe50Tyr)
14g.31072927T>CCA389360817AP4S1c.248T>C (p.Phe83Ser)
c.149T>C (p.Phe50Ser)
14g.31072927T>GCA389360816AP4S1c.248T>G (p.Phe83Cys)
c.149T>G (p.Phe50Cys)
14g.31072928C>ACA389360819AP4S1c.249C>A (p.Phe83Leu)
c.150C>A (p.Phe50Leu)
14g.31072928C=CA2127059321AP4S1c.249C= (p.Phe83=)
c.150C= (p.Phe50=)
14g.31072928C>GCA389360825AP4S1c.249C>G (p.Phe83Leu)
c.150C>G (p.Phe50Leu)
14g.31072928C>TCA258578266AP4S1c.249C>T (p.Phe83=)
c.150C>T (p.Phe50=)
 dbSNP gnomAD v4
14g.31072929A>CCA389360826AP4S1c.250A>C (p.Ile84Leu)
c.151A>C (p.Ile51Leu)
14g.31072929A>GCA389360827AP4S1c.250A>G (p.Ile84Val)
c.151A>G (p.Ile51Val)
14g.31072929A>TCA389360828AP4S1c.250A>T (p.Ile84Phe)
c.151A>T (p.Ile51Phe)
14g.31072930T>ACA389360829AP4S1c.251T>A (p.Ile84Asn)
c.152T>A (p.Ile51Asn)
14g.31072930T>CCA389360830AP4S1c.251T>C (p.Ile84Thr)
c.152T>C (p.Ile51Thr)
14g.31072930T>GCA389360831AP4S1c.251T>G (p.Ile84Ser)
c.152T>G (p.Ile51Ser)
14g.31072931T>ACA485835298AP4S1c.252T>A (p.Ile84=)
c.153T>A (p.Ile51=)
14g.31072931T>CCA485835302AP4S1c.252T>C (p.Ile84=)
c.153T>C (p.Ile51=)
14g.31072931T>GCA7144216AP4S1c.252T>G (p.Ile84Met)
c.153T>G (p.Ile51Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.31072931T=CA2127059325AP4S1c.252T= (p.Ile84=)
c.153T= (p.Ile51=)
14g.31072932C>ACA389360832AP4S1c.253C>A (p.His85Asn)
c.154C>A (p.His52Asn)
14g.31072932C>GCA389360833AP4S1c.253C>G (p.His85Asp)
c.154C>G (p.His52Asp)
14g.31072932C>TCA389360834AP4S1c.253C>T (p.His85Tyr)
c.154C>T (p.His52Tyr)
14g.31072933A=CA2127059331AP4S1c.254A= (p.His85=)
c.155A= (p.His52=)
14g.31072933A>CCA389360836AP4S1c.254A>C (p.His85Pro)
c.155A>C (p.His52Pro)
14g.31072933A>GCA389360837AP4S1c.254A>G (p.His85Arg)
c.155A>G (p.His52Arg)
 dbSNP gnomAD v3 gnomAD v4
14g.31072933A>TCA389360835AP4S1c.254A>T (p.His85Leu)
c.155A>T (p.His52Leu)
 dbSNP gnomAD v3 gnomAD v4
14g.31072934T>ACA389360838AP4S1c.255T>A (p.His85Gln)
c.156T>A (p.His52Gln)
14g.31072934T>CCA485835313AP4S1c.255T>C (p.His85=)
c.156T>C (p.His52=)
14g.31072934T>GCA389360839AP4S1c.255T>G (p.His85Gln)
c.156T>G (p.His52Gln)
14g.31072935A>CCA389360840AP4S1c.256A>C (p.Asn86His)
c.157A>C (p.Asn53His)
14g.31072935A>GCA389360841AP4S1c.256A>G (p.Asn86Asp)
c.157A>G (p.Asn53Asp)
14g.31072935A>TCA389360842AP4S1c.256A>T (p.Asn86Tyr)
c.157A>T (p.Asn53Tyr)
14g.31072936A=CA2127059335AP4S1c.257A= (p.Asn86=)
c.158A= (p.Asn53=)
14g.31072936A>CCA389360845AP4S1c.257A>C (p.Asn86Thr)
c.158A>C (p.Asn53Thr)
14g.31072936A>GCA389360843AP4S1c.257A>G (p.Asn86Ser)
c.158A>G (p.Asn53Ser)
 dbSNP
14g.31072936A>TCA389360844AP4S1c.257A>T (p.Asn86Ile)
c.158A>T (p.Asn53Ile)
14g.31072937C>ACA389360846AP4S1c.258C>A (p.Asn86Lys)
c.159C>A (p.Asn53Lys)
14g.31072937C>GCA389360847AP4S1c.258C>G (p.Asn86Lys)
c.159C>G (p.Asn53Lys)
14g.31072937C>TCA485835327AP4S1c.258C>T (p.Asn86=)
c.159C>T (p.Asn53=)
 gnomAD v4
14g.31072938T>ACA389360848AP4S1c.259T>A (p.Phe87Ile)
c.160T>A (p.Phe54Ile)
14g.31072938T>CCA258578270AP4S1c.259T>C (p.Phe87Leu)
c.160T>C (p.Phe54Leu)
 dbSNP gnomAD v4
14g.31072938T>GCA389360849AP4S1c.259T>G (p.Phe87Val)
c.160T>G (p.Phe54Val)
14g.31072938T=CA2127059339AP4S1c.259T= (p.Phe87=)
c.160T= (p.Phe54=)
14g.31072939T>ACA389360850AP4S1c.260T>A (p.Phe87Tyr)
c.161T>A (p.Phe54Tyr)
14g.31072939T>CCA389360852AP4S1c.260T>C (p.Phe87Ser)
c.161T>C (p.Phe54Ser)
 gnomAD v4
14g.31072939T>GCA389360851AP4S1c.260T>G (p.Phe87Cys)
c.161T>G (p.Phe54Cys)
 dbSNP gnomAD v2 gnomAD v4
14g.31072939T=CA2127059343AP4S1c.260T= (p.Phe87=)
c.161T= (p.Phe54=)
14g.31072940T>ACA258578271AP4S1c.261T>A (p.Phe87Leu)
c.162T>A (p.Phe54Leu)
 dbSNP gnomAD v3 gnomAD v4
14g.31072940T>CCA485835349AP4S1c.261T>C (p.Phe87=)
c.162T>C (p.Phe54=)
14g.31072940T>GCA389360853AP4S1c.261T>G (p.Phe87Leu)
c.162T>G (p.Phe54Leu)
14g.31072940T=CA2127059357AP4S1c.261T= (p.Phe87=)
c.162T= (p.Phe54=)
14g.31072941G>ACA389360854AP4S1c.262G>A (p.Val88Met)
c.163G>A (p.Val55Met)
 gnomAD v4
14g.31072941G>CCA389360855AP4S1c.262G>C (p.Val88Leu)
c.163G>C (p.Val55Leu)
14g.31072941G>TCA389360856AP4S1c.262G>T (p.Val88Leu)
c.163G>T (p.Val55Leu)
 gnomAD v4
14g.31072942T>ACA389360857AP4S1c.263T>A (p.Val88Glu)
c.164T>A (p.Val55Glu)
14g.31072942T>CCA389360858AP4S1c.263T>C (p.Val88Ala)
c.164T>C (p.Val55Ala)
14g.31072942T>GCA389360859AP4S1c.263T>G (p.Val88Gly)
c.164T>G (p.Val55Gly)
 dbSNP gnomAD v4
14g.31072942T=CA2127059360AP4S1c.263T= (p.Val88=)
c.164T= (p.Val55=)
14g.31072943G>ACA485835371AP4S1c.264G>A (p.Val88=)
c.165G>A (p.Val55=)
14g.31072943G>CCA485835374AP4S1c.264G>C (p.Val88=)
c.165G>C (p.Val55=)
14g.31072943G>TCA485835375AP4S1c.264G>T (p.Val88=)
c.165G>T (p.Val55=)
14g.31072944G>ACA389360860AP4S1c.265G>A (p.Glu89Lys)
c.166G>A (p.Glu56Lys)
14g.31072944G>CCA389360861AP4S1c.265G>C (p.Glu89Gln)
c.166G>C (p.Glu56Gln)
14g.31072944G>TCA389360862AP4S1c.265G>T (p.Glu89Ter)
c.166G>T (p.Glu56Ter)
 gnomAD v4
14g.31072945A>CCA389360863AP4S1c.266A>C (p.Glu89Ala)
c.167A>C (p.Glu56Ala)
14g.31072945A>GCA389360864AP4S1c.266A>G (p.Glu89Gly)
c.167A>G (p.Glu56Gly)
14g.31072945A>TCA389360865AP4S1c.266A>T (p.Glu89Val)
c.167A>T (p.Glu56Val)
14g.31072946A=CA2127059363AP4S1c.267A= (p.Glu89=)
c.168A= (p.Glu56=)
14g.31072946A>CCA389360867AP4S1c.267A>C (p.Glu89Asp)
c.168A>C (p.Glu56Asp)
 dbSNP
14g.31072946A>GCA485835391AP4S1c.267A>G (p.Glu89=)
c.168A>G (p.Glu56=)
14g.31072946A>TCA389360866AP4S1c.267A>T (p.Glu89Asp)
c.168A>T (p.Glu56Asp)
14g.31072947G>ACA7144217AP4S1c.268G>A (p.Val90Ile)
c.169G>A (p.Val57Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.31072947G>CCA389360868AP4S1c.268G>C (p.Val90Leu)
c.169G>C (p.Val57Leu)
14g.31072947G=CA2127059368AP4S1c.268G= (p.Val90=)
c.169G= (p.Val57=)
14g.31072947G>TCA389360869AP4S1c.268G>T (p.Val90Phe)
c.169G>T (p.Val57Phe)
14g.31072948T>ACA389360870AP4S1c.269T>A (p.Val90Asp)
c.170T>A (p.Val57Asp)
14g.31072948T>CCA389360871AP4S1c.269T>C (p.Val90Ala)
c.170T>C (p.Val57Ala)
14g.31072948T>GCA389360872AP4S1c.269T>G (p.Val90Gly)
c.170T>G (p.Val57Gly)
14g.31072949T>ACA485835400AP4S1c.270T>A (p.Val90=)
c.171T>A (p.Val57=)
14g.31072949T>CCA485835403AP4S1c.270T>C (p.Val90=)
c.171T>C (p.Val57=)
14g.31072949T>GCA485835401AP4S1c.270T>G (p.Val90=)
c.171T>G (p.Val57=)
14g.31072950T>ACA389360873AP4S1c.271T>A (p.Leu91Ile)
c.172T>A (p.Leu58Ile)
14g.31072950T>CCA485835409AP4S1c.271T>C (p.Leu91=)
c.172T>C (p.Leu58=)
 gnomAD v4
14g.31072950T>GCA389360874AP4S1c.271T>G (p.Leu91Val)
c.172T>G (p.Leu58Val)
14g.31072951T>ACA389360875AP4S1c.272T>A (p.Leu91Ter)
c.173T>A (p.Leu58Ter)
14g.31072951T>CCA389360876AP4S1c.272T>C (p.Leu91Ser)
c.173T>C (p.Leu58Ser)
14g.31072951T>GCA389360877AP4S1c.272T>G (p.Leu91Ter)
c.173T>G (p.Leu58Ter)
14g.31072952A=CA2127059370AP4S1c.273A= (p.Leu91=)
c.174A= (p.Leu58=)
14g.31072952A>CCA389360878AP4S1c.273A>C (p.Leu91Phe)
c.174A>C (p.Leu58Phe)
14g.31072952A>GCA485835416AP4S1c.273A>G (p.Leu91=)
c.174A>G (p.Leu58=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.31072952A>TCA389360879AP4S1c.273A>T (p.Leu91Phe)
c.174A>T (p.Leu58Phe)
14g.31072953G>ACA389360880AP4S1c.274G>A (p.Asp92Asn)
c.175G>A (p.Asp59Asn)
14g.31072953G>CCA389360882AP4S1c.274G>C (p.Asp92His)
c.175G>C (p.Asp59His)
 gnomAD v4
14g.31072953G>TCA389360881AP4S1c.274G>T (p.Asp92Tyr)
c.175G>T (p.Asp59Tyr)
14g.31072954A>CCA389360883AP4S1c.275A>C (p.Asp92Ala)
c.176A>C (p.Asp59Ala)
14g.31072954A>GCA389360884AP4S1c.275A>G (p.Asp92Gly)
c.176A>G (p.Asp59Gly)
14g.31072954A>TCA389360885AP4S1c.275A>T (p.Asp92Val)
c.176A>T (p.Asp59Val)
14g.31072955T>ACA389360886AP4S1c.276T>A (p.Asp92Glu)
c.177T>A (p.Asp59Glu)
14g.31072955T>CCA485835451AP4S1c.276T>C (p.Asp92=)
c.177T>C (p.Asp59=)
14g.31072955T>GCA389360887AP4S1c.276T>G (p.Asp92Glu)
c.177T>G (p.Asp59Glu)
14g.31072956G>ACA389360888AP4S1c.277G>A (p.Glu93Lys)
c.178G>A (p.Glu60Lys)
14g.31072956G>CCA389360889AP4S1c.277G>C (p.Glu93Gln)
c.178G>C (p.Glu60Gln)
14g.31072956G>TCA389360890AP4S1c.277G>T (p.Glu93Ter)
c.178G>T (p.Glu60Ter)
 COSMIC COSMIC
14g.31072957A=CA2127059375AP4S1c.278A= (p.Glu93=)
c.179A= (p.Glu60=)
14g.31072957A>CCA389360891AP4S1c.278A>C (p.Glu93Ala)
c.179A>C (p.Glu60Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.31072957A>GCA389360892AP4S1c.278A>G (p.Glu93Gly)
c.179A>G (p.Glu60Gly)
14g.31072957A>TCA389360893AP4S1c.278A>T (p.Glu93Val)
c.179A>T (p.Glu60Val)
14g.31072958G>ACA485835459AP4S1c.279G>A (p.Glu93=)
c.180G>A (p.Glu60=)
 dbSNP gnomAD v4
14g.31072958G>CCA389360894AP4S1c.279G>C (p.Glu93Asp)
c.180G>C (p.Glu60Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.31072958G=CA2127059380AP4S1c.279G= (p.Glu93=)
c.180G= (p.Glu60=)
14g.31072958G>TCA389360895AP4S1c.279G>T (p.Glu93Asp)
c.180G>T (p.Glu60Asp)
14g.31072959T>ACA389360896AP4S1c.280T>A (p.Tyr94Asn)
c.181T>A (p.Tyr61Asn)
14g.31072959T>CCA389360898AP4S1c.280T>C (p.Tyr94His)
c.181T>C (p.Tyr61His)
14g.31072959T>GCA389360897AP4S1c.280T>G (p.Tyr94Asp)
c.181T>G (p.Tyr61Asp)
14g.31072960A>CCA389360899AP4S1c.281A>C (p.Tyr94Ser)
c.182A>C (p.Tyr61Ser)
14g.31072960A>GCA389360900AP4S1c.281A>G (p.Tyr94Cys)
c.182A>G (p.Tyr61Cys)
14g.31072960A>TCA389360901AP4S1c.281A>T (p.Tyr94Phe)
c.182A>T (p.Tyr61Phe)
14g.31072961T>ACA389360902AP4S1c.282T>A (p.Tyr94Ter)
c.183T>A (p.Tyr61Ter)
14g.31072961T>CCA485835477AP4S1c.282T>C (p.Tyr94=)
c.183T>C (p.Tyr61=)
14g.31072961T>GCA389360903AP4S1c.282T>G (p.Tyr94Ter)
c.183T>G (p.Tyr61Ter)
14g.31072962T>ACA389360904AP4S1c.283T>A (p.Phe95Ile)
c.184T>A (p.Phe62Ile)
14g.31072962T>CCA389360905AP4S1c.283T>C (p.Phe95Leu)
c.184T>C (p.Phe62Leu)
14g.31072962T>GCA389360906AP4S1c.283T>G (p.Phe95Val)
c.184T>G (p.Phe62Val)
14g.31072963T>ACA389360907AP4S1c.284T>A (p.Phe95Tyr)
c.185T>A (p.Phe62Tyr)
14g.31072963T>CCA389360908AP4S1c.284T>C (p.Phe95Ser)
c.185T>C (p.Phe62Ser)
14g.31072963T>GCA7144218AP4S1c.284T>G (p.Phe95Cys)
c.185T>G (p.Phe62Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.31072963T=CA2127059382AP4S1c.284T= (p.Phe95=)
c.185T= (p.Phe62=)
14g.31072964C>ACA389360910AP4S1c.285C>A (p.Phe95Leu)
c.186C>A (p.Phe62Leu)
14g.31072964C=CA2127059384AP4S1c.285C= (p.Phe95=)
c.186C= (p.Phe62=)
14g.31072964C>GCA389360909AP4S1c.285C>G (p.Phe95Leu)
c.186C>G (p.Phe62Leu)
14g.31072964C>TCA485835487AP4S1c.285C>T (p.Phe95=)
c.186C>T (p.Phe62=)
 dbSNP gnomAD v4
14g.31072965A>CCA389360911AP4S1c.286A>C (p.Ser96Arg)
c.187A>C (p.Ser63Arg)
 dbSNP gnomAD v4
14g.31072965A>GCA389360913AP4S1c.286A>G (p.Ser96Gly)
c.187A>G (p.Ser63Gly)
 gnomAD v4
14g.31072965A>TCA389360912AP4S1c.286A>T (p.Ser96Cys)
c.187A>T (p.Ser63Cys)
 gnomAD v4
14g.31072966G>ACA389360914AP4S1c.287G>A (p.Ser96Asn)
c.188G>A (p.Ser63Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.31072966G>CCA258578281AP4S1c.287G>C (p.Ser96Thr)
c.188G>C (p.Ser63Thr)
 dbSNP
14g.31072966G=CA2127059385AP4S1c.287G= (p.Ser96=)
c.188G= (p.Ser63=)
14g.31072966G>TCA389360915AP4S1c.287G>T (p.Ser96Ile)
c.188G>T (p.Ser63Ile)
14g.31072967C>ACA389360916AP4S1c.288C>A (p.Ser96Arg)
c.189C>A (p.Ser63Arg)
 gnomAD v4
14g.31072967C>GCA389360917AP4S1c.288C>G (p.Ser96Arg)
c.189C>G (p.Ser63Arg)
 gnomAD v4
14g.31072967C>TCA485835501AP4S1c.288C>T (p.Ser96=)
c.189C>T (p.Ser63=)
14g.31072968C>ACA485835503AP4S1c.289C>A (p.Arg97=)
c.190C>A (p.Arg64=)
 dbSNP gnomAD v2 gnomAD v4
14g.31072968C=CA2127059391AP4S1c.289C= (p.Arg97=)
c.190C= (p.Arg64=)
14g.31072968C>GCA389360918AP4S1c.289C>G (p.Arg97Gly)
c.190C>G (p.Arg64Gly)
14g.31072968C>TCA7144219AP4S1c.289C>T (p.Arg97Ter)
c.190C>T (p.Arg64Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
14g.31072969G>ACA7144220AP4S1c.290G>A (p.Arg97Gln)
c.191G>A (p.Arg64Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.31072969G>CCA389360919AP4S1c.290G>C (p.Arg97Pro)
c.191G>C (p.Arg64Pro)
14g.31072969G=CA2127059400AP4S1c.290G= (p.Arg97=)
c.191G= (p.Arg64=)
14g.31072969G>TCA389360920AP4S1c.290G>T (p.Arg97Leu)
c.191G>T (p.Arg64Leu)
 ClinVar dbSNP COSMIC COSMIC
14g.31072969_31072970delinsGACA2127059404AP4S1c.290_291delinsGA (p.Arg97=)
c.191_192delinsGA (p.Arg64=)
14g.31072970delCA612994243AP4S1c.291del (p.Val98Ter)
c.291del (p.Val98TrpfsTer27)
c.291del (p.Val98TrpfsTer?)
c.291del (p.Val98TrpfsTer2)
c.291del (p.Arg97=)
c.192del (p.Val65TrpfsTer2)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.31072970A>CCA485835511AP4S1c.291A>C (p.Arg97=)
c.192A>C (p.Arg64=)
14g.31072970A>GCA485835512AP4S1c.291A>G (p.Arg97=)
c.192A>G (p.Arg64=)
 gnomAD v4
14g.31072970A>TCA485835515AP4S1c.291A>T (p.Arg97=)
c.192A>T (p.Arg64=)
14g.31072971G>ACA389360921AP4S1c.292G>A (p.Val98Met)
c.193G>A (p.Val65Met)
 gnomAD v4
14g.31072971G>CCA389360922AP4S1c.292G>C (p.Val98Leu)
c.193G>C (p.Val65Leu)
 gnomAD v4
14g.31072971G>TCA389360923AP4S1c.292G>T (p.Val98Leu)
c.193G>T (p.Val65Leu)
14g.31072972T>ACA389360926AP4S1c.293T>A (p.Val98Glu)
c.194T>A (p.Val65Glu)
14g.31072972T>CCA389360925AP4S1c.293T>C (p.Val98Ala)
c.194T>C (p.Val65Ala)
14g.31072972T>GCA389360924AP4S1c.293T>G (p.Val98Gly)
c.194T>G (p.Val65Gly)
14g.31072973G>ACA485835528AP4S1c.294G>A (p.Val98=)
c.195G>A (p.Val65=)
14g.31072973G>CCA485835530AP4S1c.294G>C (p.Val98=)
c.195G>C (p.Val65=)
14g.31072973G>TCA485835533AP4S1c.294G>T (p.Val98=)
c.195G>T (p.Val65=)
14g.31072974G>ACA389360927AP4S1c.294+1G>A (n.294+1G>A)
c.295G>A (p.Val99Ile)
c.196G>A (p.Val66Ile)
 ClinVar gnomAD v4
14g.31072974G>CCA389360928AP4S1c.294+1G>C (n.294+1G>C)
c.295G>C (p.Val99Leu)
c.196G>C (p.Val66Leu)
 ClinVar dbSNP gnomAD v4
14g.31072974G=CA2127059410AP4S1c.294+1G= (n.294+1G=)
c.295G= (p.Val99=)
c.196G= (p.Val66=)
14g.31072974G>TCA10603400AP4S1c.294+1G>T (n.294+1G>T)
c.295G>T (p.Val99Leu)
c.196G>T (p.Val66Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.31072975T>ACA389360929AP4S1c.294+2T>A (n.294+2T>A)
c.296T>A (p.Val99Glu)
c.197T>A (p.Val66Glu)
14g.31072975T>CCA389360930AP4S1c.294+2T>C (n.294+2T>C)
c.296T>C (p.Val99Ala)
c.197T>C (p.Val66Ala)
14g.31072975T>GCA389360931AP4S1c.294+2T>G (n.294+2T>G)
c.296T>G (p.Val99Gly)
c.197T>G (p.Val66Gly)
14g.31072977A>CCA389360932AP4S1c.294+4A>C (n.294+4A>C)
c.298A>C (p.Asn100His)
c.199A>C (p.Ser67Arg)
14g.31072977A>GCA389360933AP4S1c.294+4A>G (n.294+4A>G)
c.298A>G (p.Asn100Asp)
c.199A>G (p.Ser67Gly)
14g.31072977A>TCA389360934AP4S1c.294+4A>T (n.294+4A>T)
c.298A>T (p.Asn100Tyr)
c.199A>T (p.Ser67Cys)
14g.31072978G>ACA389360935AP4S1c.294+5G>A (n.294+5G>A)
c.298+1G>A (n.298+1G>A)
c.200G>A (p.Ser67Asn)
 gnomAD v4
14g.31072978G>CCA389360936AP4S1c.294+5G>C (n.294+5G>C)
c.298+1G>C (n.298+1G>C)
c.200G>C (p.Ser67Thr)
14g.31072978G>TCA389360937AP4S1c.294+5G>T (n.294+5G>T)
c.298+1G>T (n.298+1G>T)
c.200G>T (p.Ser67Ile)
14g.31072978_31072980delCA2624457964AP4S1c.294+5_294+7del (n.294+5_294+7del)
c.298+1_298+3del (n.298+1_298+3del)
c.200_202del (p.Ser67_Leu68delinsIle)
 gnomAD v4
14g.31072979T>ACA389360939AP4S1c.294+6T>A (n.294+6T>A)
c.298+2T>A (n.298+2T>A)
c.201T>A (p.Ser67Arg)
14g.31072979T>CCA389360940AP4S1c.294+6T>C (n.294+6T>C)
c.298+2T>C (n.298+2T>C)
c.201T>C (p.Ser67=)
 dbSNP gnomAD v4
14g.31072979T>GCA389360938AP4S1c.294+6T>G (n.294+6T>G)
c.298+2T>G (n.298+2T>G)
c.201T>G (p.Ser67Arg)
14g.31072979T=CA2127059415AP4S1c.294+6T= (n.294+6T=)
c.298+2T= (n.298+2T=)
c.201T= (p.Ser67=)
14g.31072980C>ACA389360941AP4S1c.294+7C>A (n.294+7C>A)
c.298+3C>A (n.298+3C>A)
c.202C>A (p.Leu68Ile)
 gnomAD v4
14g.31072980C>GCA389360942AP4S1c.294+7C>G (n.294+7C>G)
c.298+3C>G (n.298+3C>G)
c.202C>G (p.Leu68Val)
14g.31072981T>ACA389360943AP4S1c.294+8T>A (n.294+8T>A)
c.298+4T>A (n.298+4T>A)
c.203T>A (p.Leu68Gln)
14g.31072981T>CCA389360944AP4S1c.294+8T>C (n.294+8T>C)
c.298+4T>C (n.298+4T>C)
c.203T>C (p.Leu68Pro)
14g.31072981T>GCA389360945AP4S1c.294+8T>G (n.294+8T>G)
c.298+4T>G (n.298+4T>G)
c.203T>G (p.Leu68Arg)
14g.31072982A>GCA2575500564AP4S1c.294+9A>G (n.294+9A>G)
c.298+5A>G (n.298+5A>G)
c.204A>G (p.Leu68=)
 gnomAD v4
14g.31072983dupCA2624457965AP4S1c.294+10dup (n.294+10dup)
c.298+6dup (n.298+6dup)
c.205dup (p.Met69AsnfsTer3)
 gnomAD v4
14g.31072983A>CCA389360948AP4S1c.294+10A>C (n.294+10A>C)
c.298+6A>C (n.298+6A>C)
c.205A>C (p.Met69Leu)
14g.31072983A>GCA389360947AP4S1c.294+10A>G (n.294+10A>G)
c.298+6A>G (n.298+6A>G)
c.205A>G (p.Met69Val)
14g.31072983A>TCA389360946AP4S1c.294+10A>T (n.294+10A>T)
c.298+6A>T (n.298+6A>T)
c.205A>T (p.Met69Leu)
14g.31072984T>ACA389360949AP4S1c.294+11T>A (n.294+11T>A)
c.298+7T>A (n.298+7T>A)
c.206T>A (p.Met69Lys)
14g.31072984T>CCA389360950AP4S1c.294+11T>C (n.294+11T>C)
c.298+7T>C (n.298+7T>C)
c.206T>C (p.Met69Thr)
14g.31072984T>GCA389360951AP4S1c.294+11T>G (n.294+11T>G)
c.298+7T>G (n.298+7T>G)
c.206T>G (p.Met69Arg)
14g.31072985G>ACA389360952AP4S1c.294+12G>A (n.294+12G>A)
c.298+8G>A (n.298+8G>A)
c.207G>A (p.Met69Ile)
 gnomAD v4
14g.31072985G>CCA389360953AP4S1c.294+12G>C (n.294+12G>C)
c.298+8G>C (n.298+8G>C)
c.207G>C (p.Met69Ile)
14g.31072985G>TCA389360954AP4S1c.294+12G>T (n.294+12G>T)
c.298+8G>T (n.298+8G>T)
c.207G>T (p.Met69Ile)
14g.31072986G>ACA389360955AP4S1c.294+13G>A (n.294+13G>A)
c.298+9G>A (n.298+9G>A)
c.208G>A (p.Ala70Thr)
14g.31072986G>CCA389360957AP4S1c.294+13G>C (n.294+13G>C)
c.298+9G>C (n.298+9G>C)
c.208G>C (p.Ala70Pro)
14g.31072986G>TCA389360956AP4S1c.294+13G>T (n.294+13G>T)
c.298+9G>T (n.298+9G>T)
c.208G>T (p.Ala70Ser)
14g.31072987C>ACA389360958AP4S1c.294+14C>A (n.294+14C>A)
c.298+10C>A (n.298+10C>A)
c.209C>A (p.Ala70Asp)
14g.31072987C>GCA389360959AP4S1c.294+14C>G (n.294+14C>G)
c.298+10C>G (n.298+10C>G)
c.209C>G (p.Ala70Gly)
14g.31072987C>TCA389360960AP4S1c.294+14C>T (n.294+14C>T)
c.298+10C>T (n.298+10C>T)
c.209C>T (p.Ala70Val)
14g.31072988T>CCA2624457966AP4S1c.294+15T>C (n.294+15T>C)
c.298+11T>C (n.298+11T>C)
c.210T>C (p.Ala70=)
 gnomAD v4
14g.31072988_31072989delinsTACA2127059417AP4S1c.294+15_294+16delinsTA (n.294+15_294+16delinsTA)
c.298+11_298+12delinsTA (n.298+11_298+12delinsTA)
c.210_211delinsTA (p.Ala70=)
14g.31072989A>CCA389360961AP4S1c.294+16A>C (n.294+16A>C)
c.298+12A>C (n.298+12A>C)
c.211A>C (p.Lys71Gln)
14g.31072989A>GCA389360962AP4S1c.294+16A>G (n.294+16A>G)
c.298+12A>G (n.298+12A>G)
c.211A>G (p.Lys71Glu)
14g.31072989A>TCA389360963AP4S1c.294+16A>T (n.294+16A>T)
c.298+12A>T (n.298+12A>T)
c.211A>T (p.Lys71Ter)
14g.31072994dupCA2624457967AP4S1c.294+21dup (n.294+21dup)
c.298+17dup (n.298+17dup)
c.216dup (p.Trp73MetfsTer28)
 gnomAD v4
14g.31072994delCA258578290AP4S1c.294+21del (n.294+21del)
c.298+17del (n.298+17del)
c.216del (p.Lys72AsnfsTer24)
 dbSNP gnomAD v2 gnomAD v4
14g.31072990A>CCA389360964AP4S1c.294+17A>C (n.294+17A>C)
c.298+13A>C (n.298+13A>C)
c.212A>C (p.Lys71Thr)
14g.31072990A>GCA389360965AP4S1c.294+17A>G (n.294+17A>G)
c.298+13A>G (n.298+13A>G)
c.212A>G (p.Lys71Arg)
14g.31072990A>TCA389360966AP4S1c.294+17A>T (n.294+17A>T)
c.298+13A>T (n.298+13A>T)
c.212A>T (p.Lys71Ile)
14g.31072991A>CCA389360967AP4S1c.294+18A>C (n.294+18A>C)
c.298+14A>C (n.298+14A>C)
c.213A>C (p.Lys71Asn)
14g.31072991A>TCA389360968AP4S1c.294+18A>T (n.294+18A>T)
c.298+14A>T (n.298+14A>T)
c.213A>T (p.Lys71Asn)
14g.31072992A>CCA389360971AP4S1c.294+19A>C (n.294+19A>C)
c.298+15A>C (n.298+15A>C)
c.214A>C (p.Lys72Gln)
14g.31072992A>GCA389360970AP4S1c.294+19A>G (n.294+19A>G)
c.298+15A>G (n.298+15A>G)
c.214A>G (p.Lys72Glu)
14g.31072992A>TCA389360969AP4S1c.294+19A>T (n.294+19A>T)
c.298+15A>T (n.298+15A>T)
c.214A>T (p.Lys72Ter)
14g.31072993A=CA2127059421AP4S1c.294+20A= (n.294+20A=)
c.298+16A= (n.298+16A=)
c.215A= (p.Lys72=)
14g.31072993A>CCA389360972AP4S1c.294+20A>C (n.294+20A>C)
c.298+16A>C (n.298+16A>C)
c.215A>C (p.Lys72Thr)
14g.31072993A>GCA389360974AP4S1c.294+20A>G (n.294+20A>G)
c.298+16A>G (n.298+16A>G)
c.215A>G (p.Lys72Arg)
 dbSNP gnomAD v3 gnomAD v4
14g.31072993A>TCA389360973AP4S1c.294+20A>T (n.294+20A>T)
c.298+16A>T (n.298+16A>T)
c.215A>T (p.Lys72Ile)
14g.31072994A=CA2127059423AP4S1c.294+21A= (n.294+21A=)
c.298+17A= (n.298+17A=)
c.216A= (p.Lys72=)
14g.31072994A>CCA389360975AP4S1c.294+21A>C (n.294+21A>C)
c.298+17A>C (n.298+17A>C)
c.216A>C (p.Lys72Asn)
 gnomAD v4
14g.31072994A>GCA258578294AP4S1c.294+21A>G (n.294+21A>G)
c.298+17A>G (n.298+17A>G)
c.216A>G (p.Lys72=)
 dbSNP gnomAD v2 gnomAD v4
14g.31072994A>TCA389360976AP4S1c.294+21A>T (n.294+21A>T)
c.298+17A>T (n.298+17A>T)
c.216A>T (p.Lys72Asn)
14g.31072995T>ACA7144221AP4S1c.294+22T>A (n.294+22T>A)
c.298+18T>A (n.298+18T>A)
c.217T>A (p.Trp73Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.31072995T>CCA389360977AP4S1c.294+22T>C (n.294+22T>C)
c.298+18T>C (n.298+18T>C)
c.217T>C (p.Trp73Arg)
 dbSNP
14g.31072995T>GCA389360978AP4S1c.294+22T>G (n.294+22T>G)
c.298+18T>G (n.298+18T>G)
c.217T>G (p.Trp73Gly)
14g.31072995T=CA2127059425AP4S1c.294+22T= (n.294+22T=)
c.298+18T= (n.298+18T=)
c.217T= (p.Trp73=)
14g.31072996G>ACA389360979AP4S1c.294+23G>A (n.294+23G>A)
c.298+19G>A (n.298+19G>A)
c.218G>A (p.Trp73Ter)
 dbSNP gnomAD v2 gnomAD v4
14g.31072996G>CCA389360980AP4S1c.294+23G>C (n.294+23G>C)
c.298+19G>C (n.298+19G>C)
c.218G>C (p.Trp73Ser)
 dbSNP
14g.31072996G=CA2127059428AP4S1c.294+23G= (n.294+23G=)
c.298+19G= (n.298+19G=)
c.218G= (p.Trp73=)
14g.31072996G>TCA389360981AP4S1c.294+23G>T (n.294+23G>T)
c.298+19G>T (n.298+19G>T)
c.218G>T (p.Trp73Leu)
14g.31072997G>ACA7144222AP4S1c.294+24G>A (n.294+24G>A)
c.298+20G>A (n.298+20G>A)
c.219G>A (p.Trp73Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.31072997G>CCA389360982AP4S1c.294+24G>C (n.294+24G>C)
c.298+20G>C (n.298+20G>C)
c.219G>C (p.Trp73Cys)
14g.31072997G=CA2127059432AP4S1c.294+24G= (n.294+24G=)
c.298+20G= (n.298+20G=)
c.219G= (p.Trp73=)
14g.31072997G>TCA389360983AP4S1c.294+24G>T (n.294+24G>T)
c.298+20G>T (n.298+20G>T)
c.219G>T (p.Trp73Cys)
 gnomAD v4
14g.31072997_31072998delinsGTCA2127059433AP4S1c.294+24_294+25delinsGT (n.294+24_294+25delinsGT)
c.298+20_298+21delinsGT (n.298+20_298+21delinsGT)
c.219_220delinsGT (p.Trp73=)
14g.31072998T>ACA389360986AP4S1c.294+25T>A (n.294+25T>A)
c.298+21T>A (n.298+21T>A)
c.220T>A (p.Phe74Ile)
14g.31072998T>CCA389360985AP4S1c.294+25T>C (n.294+25T>C)
c.298+21T>C (n.298+21T>C)
c.220T>C (p.Phe74Leu)
14g.31072998T>GCA389360984AP4S1c.294+25T>G (n.294+25T>G)
c.298+21T>G (n.298+21T>G)
c.220T>G (p.Phe74Val)
14g.31073000delCA258578321AP4S1c.294+27del (n.294+27del)
c.298+23del (n.298+23del)
c.222del (p.Phe74LeufsTer22)
 dbSNP
14g.31072999T>ACA389360987AP4S1c.294+26T>A (n.294+26T>A)
c.298+22T>A (n.298+22T>A)
c.221T>A (p.Phe74Tyr)
14g.31072999T>CCA389360988AP4S1c.294+26T>C (n.294+26T>C)
c.298+22T>C (n.298+22T>C)
c.221T>C (p.Phe74Ser)
14g.31072999T>GCA389360989AP4S1c.294+26T>G (n.294+26T>G)
c.298+22T>G (n.298+22T>G)
c.221T>G (p.Phe74Cys)
14g.31073000T>ACA389360990AP4S1c.294+27T>A (n.294+27T>A)
c.298+23T>A (n.298+23T>A)
c.222T>A (p.Phe74Leu)
14g.31073000T>GCA389360991AP4S1c.294+27T>G (n.294+27T>G)
c.298+23T>G (n.298+23T>G)
c.222T>G (p.Phe74Leu)
14g.31073001A>CCA389360992AP4S1c.294+28A>C (n.294+28A>C)
c.298+24A>C (n.298+24A>C)
c.223A>C (p.Thr75Pro)
14g.31073001A>GCA389360993AP4S1c.294+28A>G (n.294+28A>G)
c.298+24A>G (n.298+24A>G)
c.223A>G (p.Thr75Ala)
14g.31073001A>TCA389360994AP4S1c.294+28A>T (n.294+28A>T)
c.298+24A>T (n.298+24A>T)
c.223A>T (p.Thr75Ser)

Number of alleles fetched