Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.54624801T>ACA370988878RP1c.919T>A (p.Ser307Thr)
c.787+2513T>A (n.787+2513T>A)
c.940T>A (p.Ser314Thr)
8g.54624801T>CCA4751295RP1c.919T>C (p.Ser307Pro)
c.787+2513T>C (n.787+2513T>C)
c.940T>C (p.Ser314Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54624801T>GCA370988879RP1c.919T>G (p.Ser307Ala)
c.787+2513T>G (n.787+2513T>G)
c.940T>G (p.Ser314Ala)
8g.54624801T=CA1785187621RP1c.919T= (p.Ser307=)
c.787+2513T= (n.787+2513T=)
c.940T= (p.Ser314=)
8g.54624802C>ACA370988880RP1c.920C>A (p.Ser307Tyr)
c.787+2514C>A (n.787+2514C>A)
c.941C>A (p.Ser314Tyr)
 gnomAD v4
8g.54624802C=CA1785187622RP1c.920C= (p.Ser307=)
c.787+2514C= (n.787+2514C=)
c.941C= (p.Ser314=)
8g.54624802C>GCA370988881RP1c.920C>G (p.Ser307Cys)
c.787+2514C>G (n.787+2514C>G)
c.941C>G (p.Ser314Cys)
8g.54624802C>TCA4751296RP1c.920C>T (p.Ser307Phe)
c.787+2514C>T (n.787+2514C>T)
c.941C>T (p.Ser314Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
8g.54624803T>ACA461098040RP1c.921T>A (p.Ser307=)
c.787+2515T>A (n.787+2515T>A)
c.942T>A (p.Ser314=)
8g.54624803T>CCA461098044RP1c.921T>C (p.Ser307=)
c.787+2515T>C (n.787+2515T>C)
c.942T>C (p.Ser314=)
8g.54624803T>GCA461098042RP1c.921T>G (p.Ser307=)
c.787+2515T>G (n.787+2515T>G)
c.942T>G (p.Ser314=)
8g.54624804C>ACA370988882RP1c.922C>A (p.Gln308Lys)
c.787+2516C>A (n.787+2516C>A)
c.943C>A (p.Gln315Lys)
8g.54624804C=CA1785187623RP1c.922C= (p.Gln308=)
c.787+2516C= (n.787+2516C=)
c.943C= (p.Gln315=)
8g.54624804C>GCA177236578RP1c.922C>G (p.Gln308Glu)
c.787+2516C>G (n.787+2516C>G)
c.943C>G (p.Gln315Glu)
 dbSNP
8g.54624804C>TCA370988883RP1c.922C>T (p.Gln308Ter)
c.787+2516C>T (n.787+2516C>T)
c.943C>T (p.Gln315Ter)
8g.54624805A=CA1785187624RP1c.923A= (p.Gln308=)
c.787+2517A= (n.787+2517A=)
c.944A= (p.Gln315=)
8g.54624805A>CCA370988884RP1c.923A>C (p.Gln308Pro)
c.787+2517A>C (n.787+2517A>C)
c.944A>C (p.Gln315Pro)
8g.54624805A>GCA370988886RP1c.923A>G (p.Gln308Arg)
c.787+2517A>G (n.787+2517A>G)
c.944A>G (p.Gln315Arg)
 dbSNP gnomAD v3 gnomAD v4
8g.54624805A>TCA370988885RP1c.923A>T (p.Gln308Leu)
c.787+2517A>T (n.787+2517A>T)
c.944A>T (p.Gln315Leu)
8g.54624806G>ACA461098047RP1c.924G>A (p.Gln308=)
c.787+2518G>A (n.787+2518G>A)
c.945G>A (p.Gln315=)
8g.54624806G>CCA370988887RP1c.924G>C (p.Gln308His)
c.787+2518G>C (n.787+2518G>C)
c.945G>C (p.Gln315His)
8g.54624806G>TCA370988888RP1c.924G>T (p.Gln308His)
c.787+2518G>T (n.787+2518G>T)
c.945G>T (p.Gln315His)
8g.54624807A>CCA370988889RP1c.925A>C (p.Asn309His)
c.787+2519A>C (n.787+2519A>C)
c.946A>C (p.Asn316His)
8g.54624807A>GCA370988890RP1c.925A>G (p.Asn309Asp)
c.787+2519A>G (n.787+2519A>G)
c.946A>G (p.Asn316Asp)
8g.54624807A>TCA370988891RP1c.925A>T (p.Asn309Tyr)
c.787+2519A>T (n.787+2519A>T)
c.946A>T (p.Asn316Tyr)
8g.54624808A>CCA370988892RP1c.926A>C (p.Asn309Thr)
c.787+2520A>C (n.787+2520A>C)
c.947A>C (p.Asn316Thr)
8g.54624808A>GCA370988893RP1c.926A>G (p.Asn309Ser)
c.787+2520A>G (n.787+2520A>G)
c.947A>G (p.Asn316Ser)
8g.54624808A>TCA370988894RP1c.926A>T (p.Asn309Ile)
c.787+2520A>T (n.787+2520A>T)
c.947A>T (p.Asn316Ile)
8g.54624809T>ACA370988895RP1c.927T>A (p.Asn309Lys)
c.787+2521T>A (n.787+2521T>A)
c.948T>A (p.Asn316Lys)
 COSMIC
8g.54624809T>CCA461098052RP1c.927T>C (p.Asn309=)
c.787+2521T>C (n.787+2521T>C)
c.948T>C (p.Asn316=)
8g.54624809T>GCA370988896RP1c.927T>G (p.Asn309Lys)
c.787+2521T>G (n.787+2521T>G)
c.948T>G (p.Asn316Lys)
8g.54624810T>ACA370988897RP1c.928T>A (p.Leu310Ile)
c.787+2522T>A (n.787+2522T>A)
c.949T>A (p.Leu317Ile)
8g.54624810T>CCA461098053RP1c.928T>C (p.Leu310=)
c.787+2522T>C (n.787+2522T>C)
c.949T>C (p.Leu317=)
8g.54624810T>GCA370988898RP1c.928T>G (p.Leu310Val)
c.787+2522T>G (n.787+2522T>G)
c.949T>G (p.Leu317Val)
8g.54624811T>ACA370988899RP1c.929T>A (p.Leu310Ter)
c.787+2523T>A (n.787+2523T>A)
c.950T>A (p.Leu317Ter)
8g.54624811T>CCA370988900RP1c.929T>C (p.Leu310Ser)
c.787+2523T>C (n.787+2523T>C)
c.950T>C (p.Leu317Ser)
8g.54624811T>GCA370988901RP1c.929T>G (p.Leu310Ter)
c.787+2523T>G (n.787+2523T>G)
c.950T>G (p.Leu317Ter)
8g.54624812A>CCA370988902RP1c.930A>C (p.Leu310Phe)
c.787+2524A>C (n.787+2524A>C)
c.951A>C (p.Leu317Phe)
8g.54624812A>GCA461098055RP1c.930A>G (p.Leu310=)
c.787+2524A>G (n.787+2524A>G)
c.951A>G (p.Leu317=)
8g.54624812A>TCA370988903RP1c.930A>T (p.Leu310Phe)
c.787+2524A>T (n.787+2524A>T)
c.951A>T (p.Leu317Phe)
8g.54624813C>ACA370988904RP1c.931C>A (p.Pro311Thr)
c.787+2525C>A (n.787+2525C>A)
c.952C>A (p.Pro318Thr)
8g.54624813C>GCA370988905RP1c.931C>G (p.Pro311Ala)
c.787+2525C>G (n.787+2525C>G)
c.952C>G (p.Pro318Ala)
8g.54624813C>TCA370988906RP1c.931C>T (p.Pro311Ser)
c.787+2525C>T (n.787+2525C>T)
c.952C>T (p.Pro318Ser)
8g.54624814C>ACA370988907RP1c.932C>A (p.Pro311Gln)
c.787+2526C>A (n.787+2526C>A)
c.953C>A (p.Pro318Gln)
8g.54624814C>GCA370988908RP1c.932C>G (p.Pro311Arg)
c.787+2526C>G (n.787+2526C>G)
c.953C>G (p.Pro318Arg)
8g.54624814C>TCA370988909RP1c.932C>T (p.Pro311Leu)
c.787+2526C>T (n.787+2526C>T)
c.953C>T (p.Pro318Leu)
8g.54624815A>CCA461098059RP1c.933A>C (p.Pro311=)
c.787+2527A>C (n.787+2527A>C)
c.954A>C (p.Pro318=)
8g.54624815A>GCA461098060RP1c.933A>G (p.Pro311=)
c.787+2527A>G (n.787+2527A>G)
c.954A>G (p.Pro318=)
8g.54624815A>TCA461098061RP1c.933A>T (p.Pro311=)
c.787+2527A>T (n.787+2527A>T)
c.954A>T (p.Pro318=)
8g.54624816A=CA1785187625RP1c.934A= (p.Ile312=)
c.787+2528A= (n.787+2528A=)
c.955A= (p.Ile319=)
8g.54624816A>CCA370988910RP1c.934A>C (p.Ile312Leu)
c.787+2528A>C (n.787+2528A>C)
c.955A>C (p.Ile319Leu)
8g.54624816A>GCA370988911RP1c.934A>G (p.Ile312Val)
c.787+2528A>G (n.787+2528A>G)
c.955A>G (p.Ile319Val)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
8g.54624816A>TCA370988912RP1c.934A>T (p.Ile312Leu)
c.787+2528A>T (n.787+2528A>T)
c.955A>T (p.Ile319Leu)
8g.54624817T>ACA370988913RP1c.935T>A (p.Ile312Lys)
c.787+2529T>A (n.787+2529T>A)
c.956T>A (p.Ile319Lys)
8g.54624817T>CCA370988914RP1c.935T>C (p.Ile312Thr)
c.787+2529T>C (n.787+2529T>C)
c.956T>C (p.Ile319Thr)
8g.54624817T>GCA370988915RP1c.935T>G (p.Ile312Arg)
c.787+2529T>G (n.787+2529T>G)
c.956T>G (p.Ile319Arg)
8g.54624818A=CA1785187626RP1c.936A= (p.Ile312=)
c.787+2530A= (n.787+2530A=)
c.957A= (p.Ile319=)
8g.54624818A>CCA461098067RP1c.936A>C (p.Ile312=)
c.787+2530A>C (n.787+2530A>C)
c.957A>C (p.Ile319=)
 gnomAD v4
8g.54624818A>GCA4751297RP1c.936A>G (p.Ile312Met)
c.787+2530A>G (n.787+2530A>G)
c.957A>G (p.Ile319Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54624818A>TCA461098066RP1c.936A>T (p.Ile312=)
c.787+2530A>T (n.787+2530A>T)
c.957A>T (p.Ile319=)
8g.54624819T>ACA370988918RP1c.937T>A (p.Tyr313Asn)
c.787+2531T>A (n.787+2531T>A)
c.958T>A (p.Tyr320Asn)
8g.54624819T>CCA370988916RP1c.937T>C (p.Tyr313His)
c.787+2531T>C (n.787+2531T>C)
c.958T>C (p.Tyr320His)
 gnomAD v4
8g.54624819T>GCA370988917RP1c.937T>G (p.Tyr313Asp)
c.787+2531T>G (n.787+2531T>G)
c.958T>G (p.Tyr320Asp)
8g.54624820A=CA1785187627RP1c.938A= (p.Tyr313=)
c.787+2532A= (n.787+2532A=)
c.959A= (p.Tyr320=)
8g.54624820A>CCA370988919RP1c.938A>C (p.Tyr313Ser)
c.787+2532A>C (n.787+2532A>C)
c.959A>C (p.Tyr320Ser)
8g.54624820A>GCA370988920RP1c.938A>G (p.Tyr313Cys)
c.787+2532A>G (n.787+2532A>G)
c.959A>G (p.Tyr320Cys)
 dbSNP gnomAD v4
8g.54624820A>TCA370988921RP1c.938A>T (p.Tyr313Phe)
c.787+2532A>T (n.787+2532A>T)
c.959A>T (p.Tyr320Phe)
8g.54624821T>ACA370988922RP1c.939T>A (p.Tyr313Ter)
c.787+2533T>A (n.787+2533T>A)
c.960T>A (p.Tyr320Ter)
8g.54624821T>CCA461098072RP1c.939T>C (p.Tyr313=)
c.787+2533T>C (n.787+2533T>C)
c.960T>C (p.Tyr320=)
8g.54624821T>GCA370988923RP1c.939T>G (p.Tyr313Ter)
c.787+2533T>G (n.787+2533T>G)
c.960T>G (p.Tyr320Ter)
8g.54624822C>ACA370988926RP1c.940C>A (p.Pro314Thr)
c.787+2534C>A (n.787+2534C>A)
c.961C>A (p.Pro321Thr)
8g.54624822C=CA1785187628RP1c.940C= (p.Pro314=)
c.787+2534C= (n.787+2534C=)
c.961C= (p.Pro321=)
8g.54624822C>GCA370988925RP1c.940C>G (p.Pro314Ala)
c.787+2534C>G (n.787+2534C>G)
c.961C>G (p.Pro321Ala)
8g.54624822C>TCA370988924RP1c.940C>T (p.Pro314Ser)
c.787+2534C>T (n.787+2534C>T)
c.961C>T (p.Pro321Ser)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
8g.54624823C>ACA370988927RP1c.941C>A (p.Pro314His)
c.787+2535C>A (n.787+2535C>A)
c.962C>A (p.Pro321His)
8g.54624823C=CA1785187629RP1c.941C= (p.Pro314=)
c.787+2535C= (n.787+2535C=)
c.962C= (p.Pro321=)
8g.54624823C>GCA370988928RP1c.941C>G (p.Pro314Arg)
c.787+2535C>G (n.787+2535C>G)
c.962C>G (p.Pro321Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.54624823C>TCA370988929RP1c.941C>T (p.Pro314Leu)
c.787+2535C>T (n.787+2535C>T)
c.962C>T (p.Pro321Leu)
 COSMIC
8g.54624824T>ACA461098078RP1c.942T>A (p.Pro314=)
c.787+2536T>A (n.787+2536T>A)
c.963T>A (p.Pro321=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
8g.54624824T>CCA461098076RP1c.942T>C (p.Pro314=)
c.787+2536T>C (n.787+2536T>C)
c.963T>C (p.Pro321=)
8g.54624824T>GCA461098077RP1c.942T>G (p.Pro314=)
c.787+2536T>G (n.787+2536T>G)
c.963T>G (p.Pro321=)
8g.54624824T=CA1785187630RP1c.942T= (p.Pro314=)
c.787+2536T= (n.787+2536T=)
c.963T= (p.Pro321=)
8g.54624825T>ACA370988930RP1c.943T>A (p.Ser315Thr)
c.787+2537T>A (n.787+2537T>A)
c.964T>A (p.Ser322Thr)
8g.54624825T>CCA370988931RP1c.943T>C (p.Ser315Pro)
c.787+2537T>C (n.787+2537T>C)
c.964T>C (p.Ser322Pro)
8g.54624825T>GCA370988932RP1c.943T>G (p.Ser315Ala)
c.787+2537T>G (n.787+2537T>G)
c.964T>G (p.Ser322Ala)
8g.54624826C>ACA370988933RP1c.944C>A (p.Ser315Tyr)
c.787+2538C>A (n.787+2538C>A)
c.965C>A (p.Ser322Tyr)
8g.54624826C>GCA370988935RP1c.944C>G (p.Ser315Cys)
c.787+2538C>G (n.787+2538C>G)
c.965C>G (p.Ser322Cys)
8g.54624826C>TCA370988934RP1c.944C>T (p.Ser315Phe)
c.787+2538C>T (n.787+2538C>T)
c.965C>T (p.Ser322Phe)
8g.54624827T>ACA461098085RP1c.945T>A (p.Ser315=)
c.787+2539T>A (n.787+2539T>A)
c.966T>A (p.Ser322=)
8g.54624827T>CCA461098087RP1c.945T>C (p.Ser315=)
c.787+2539T>C (n.787+2539T>C)
c.966T>C (p.Ser322=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54624827T>GCA461098088RP1c.945T>G (p.Ser315=)
c.787+2539T>G (n.787+2539T>G)
c.966T>G (p.Ser322=)
8g.54624827T=CA1785187631RP1c.945T= (p.Ser315=)
c.787+2539T= (n.787+2539T=)
c.966T= (p.Ser322=)
8g.54624828G>ACA370988936RP1c.946G>A (p.Glu316Lys)
c.787+2540G>A (n.787+2540G>A)
c.967G>A (p.Glu323Lys)
 COSMIC
8g.54624828G>CCA370988937RP1c.946G>C (p.Glu316Gln)
c.787+2540G>C (n.787+2540G>C)
c.967G>C (p.Glu323Gln)
8g.54624828G=CA1785187632RP1c.946G= (p.Glu316=)
c.787+2540G= (n.787+2540G=)
c.967G= (p.Glu323=)
8g.54624828G>TCA370988938RP1c.946G>T (p.Glu316Ter)
c.787+2540G>T (n.787+2540G>T)
c.967G>T (p.Glu323Ter)
 dbSNP gnomAD v2
8g.54624829A=CA1785187633RP1c.947A= (p.Glu316=)
c.787+2541A= (n.787+2541A=)
c.968A= (p.Glu323=)
8g.54624829A>CCA370988939RP1c.947A>C (p.Glu316Ala)
c.787+2541A>C (n.787+2541A>C)
c.968A>C (p.Glu323Ala)
8g.54624829A>GCA370988940RP1c.947A>G (p.Glu316Gly)
c.787+2541A>G (n.787+2541A>G)
c.968A>G (p.Glu323Gly)
 dbSNP gnomAD v2 gnomAD v4
8g.54624829A>TCA370988941RP1c.947A>T (p.Glu316Val)
c.787+2541A>T (n.787+2541A>T)
c.968A>T (p.Glu323Val)
8g.54624830A>CCA370988942RP1c.948A>C (p.Glu316Asp)
c.787+2542A>C (n.787+2542A>C)
c.969A>C (p.Glu323Asp)
8g.54624830A>GCA461098092RP1c.948A>G (p.Glu316=)
c.787+2542A>G (n.787+2542A>G)
c.969A>G (p.Glu323=)
8g.54624830A>TCA370988943RP1c.948A>T (p.Glu316Asp)
c.787+2542A>T (n.787+2542A>T)
c.969A>T (p.Glu323Asp)
8g.54624831G>ACA370988944RP1c.949G>A (p.Asp317Asn)
c.787+2543G>A (n.787+2543G>A)
c.970G>A (p.Asp324Asn)
8g.54624831G>CCA370988945RP1c.949G>C (p.Asp317His)
c.787+2543G>C (n.787+2543G>C)
c.970G>C (p.Asp324His)
8g.54624831G>TCA370988946RP1c.949G>T (p.Asp317Tyr)
c.787+2543G>T (n.787+2543G>T)
c.970G>T (p.Asp324Tyr)
8g.54624832A=CA1785187634RP1c.950A= (p.Asp317=)
c.787+2544A= (n.787+2544A=)
c.971A= (p.Asp324=)
8g.54624832A>CCA370988947RP1c.950A>C (p.Asp317Ala)
c.787+2544A>C (n.787+2544A>C)
c.971A>C (p.Asp324Ala)
8g.54624832A>GCA370988948RP1c.950A>G (p.Asp317Gly)
c.787+2544A>G (n.787+2544A>G)
c.971A>G (p.Asp324Gly)
8g.54624832A>TCA4751298RP1c.950A>T (p.Asp317Val)
c.787+2544A>T (n.787+2544A>T)
c.971A>T (p.Asp324Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54624833T>ACA370988949RP1c.951T>A (p.Asp317Glu)
c.787+2545T>A (n.787+2545T>A)
c.972T>A (p.Asp324Glu)
 ClinVar dbSNP
8g.54624833T>CCA461098094RP1c.951T>C (p.Asp317=)
c.787+2545T>C (n.787+2545T>C)
c.972T>C (p.Asp324=)
8g.54624833T>GCA370988950RP1c.951T>G (p.Asp317Glu)
c.787+2545T>G (n.787+2545T>G)
c.972T>G (p.Asp324Glu)
8g.54624833T=CA1785187635RP1c.951T= (p.Asp317=)
c.787+2545T= (n.787+2545T=)
c.972T= (p.Asp324=)
8g.54624834G>ACA370988951RP1c.952G>A (p.Asp318Asn)
c.787+2546G>A (n.787+2546G>A)
c.973G>A (p.Asp325Asn)
 COSMIC
8g.54624834G>CCA370988952RP1c.952G>C (p.Asp318His)
c.787+2546G>C (n.787+2546G>C)
c.973G>C (p.Asp325His)
8g.54624834G>TCA370988953RP1c.952G>T (p.Asp318Tyr)
c.787+2546G>T (n.787+2546G>T)
c.973G>T (p.Asp325Tyr)
8g.54624835A>CCA370988954RP1c.953A>C (p.Asp318Ala)
c.787+2547A>C (n.787+2547A>C)
c.974A>C (p.Asp325Ala)
8g.54624835A>GCA370988955RP1c.953A>G (p.Asp318Gly)
c.787+2547A>G (n.787+2547A>G)
c.974A>G (p.Asp325Gly)
 COSMIC
8g.54624835A>TCA370988956RP1c.953A>T (p.Asp318Val)
c.787+2547A>T (n.787+2547A>T)
c.974A>T (p.Asp325Val)
8g.54624836T>ACA370988957RP1c.954T>A (p.Asp318Glu)
c.787+2548T>A (n.787+2548T>A)
c.975T>A (p.Asp325Glu)
8g.54624836T>CCA461098098RP1c.954T>C (p.Asp318=)
c.787+2548T>C (n.787+2548T>C)
c.975T>C (p.Asp325=)
 dbSNP
8g.54624836T>GCA370988958RP1c.954T>G (p.Asp318Glu)
c.787+2548T>G (n.787+2548T>G)
c.975T>G (p.Asp325Glu)
8g.54624836T=CA1785187636RP1c.954T= (p.Asp318=)
c.787+2548T= (n.787+2548T=)
c.975T= (p.Asp325=)
8g.54624837A>CCA370988959RP1c.955A>C (p.Ile319Leu)
c.787+2549A>C (n.787+2549A>C)
c.976A>C (p.Ile326Leu)
8g.54624837A>GCA370988960RP1c.955A>G (p.Ile319Val)
c.787+2549A>G (n.787+2549A>G)
c.976A>G (p.Ile326Val)
 COSMIC
8g.54624837A>TCA370988961RP1c.955A>T (p.Ile319Phe)
c.787+2549A>T (n.787+2549A>T)
c.976A>T (p.Ile326Phe)
 gnomAD v4
8g.54624838T>ACA370988963RP1c.956T>A (p.Ile319Asn)
c.787+2550T>A (n.787+2550T>A)
c.977T>A (p.Ile326Asn)
8g.54624838T>CCA4751299RP1c.956T>C (p.Ile319Thr)
c.787+2550T>C (n.787+2550T>C)
c.977T>C (p.Ile326Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54624838T>GCA370988962RP1c.956T>G (p.Ile319Ser)
c.787+2550T>G (n.787+2550T>G)
c.977T>G (p.Ile326Ser)
8g.54624838T=CA1785187637RP1c.956T= (p.Ile319=)
c.787+2550T= (n.787+2550T=)
c.977T= (p.Ile326=)
8g.54624839T>ACA461098102RP1c.957T>A (p.Ile319=)
c.787+2551T>A (n.787+2551T>A)
c.978T>A (p.Ile326=)
8g.54624839T>CCA461098103RP1c.957T>C (p.Ile319=)
c.787+2551T>C (n.787+2551T>C)
c.978T>C (p.Ile326=)
8g.54624839T>GCA370988964RP1c.957T>G (p.Ile319Met)
c.787+2551T>G (n.787+2551T>G)
c.978T>G (p.Ile326Met)
8g.54624840G>ACA370988965RP1c.958G>A (p.Glu320Lys)
c.787+2552G>A (n.787+2552G>A)
c.979G>A (p.Glu327Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.54624840G>CCA370988966RP1c.958G>C (p.Glu320Gln)
c.787+2552G>C (n.787+2552G>C)
c.979G>C (p.Glu327Gln)
8g.54624840G=CA1785187638RP1c.958G= (p.Glu320=)
c.787+2552G= (n.787+2552G=)
c.979G= (p.Glu327=)
8g.54624840G>TCA370988967RP1c.958G>T (p.Glu320Ter)
c.787+2552G>T (n.787+2552G>T)
c.979G>T (p.Glu327Ter)
8g.54624841A>CCA370988968RP1c.959A>C (p.Glu320Ala)
c.787+2553A>C (n.787+2553A>C)
c.980A>C (p.Glu327Ala)
8g.54624841A>GCA370988969RP1c.959A>G (p.Glu320Gly)
c.787+2553A>G (n.787+2553A>G)
c.980A>G (p.Glu327Gly)
 gnomAD v4
8g.54624841A>TCA370988970RP1c.959A>T (p.Glu320Val)
c.787+2553A>T (n.787+2553A>T)
c.980A>T (p.Glu327Val)
8g.54624842G>ACA461098107RP1c.960G>A (p.Glu320=)
c.787+2554G>A (n.787+2554G>A)
c.981G>A (p.Glu327=)
8g.54624842G>CCA370988971RP1c.960G>C (p.Glu320Asp)
c.787+2554G>C (n.787+2554G>C)
c.981G>C (p.Glu327Asp)
8g.54624842G>TCA370988972RP1c.960G>T (p.Glu320Asp)
c.787+2554G>T (n.787+2554G>T)
c.981G>T (p.Glu327Asp)
8g.54624843A>CCA370988973RP1c.961A>C (p.Lys321Gln)
c.787+2555A>C (n.787+2555A>C)
c.982A>C (p.Lys328Gln)
8g.54624843A>GCA370988974RP1c.961A>G (p.Lys321Glu)
c.787+2555A>G (n.787+2555A>G)
c.982A>G (p.Lys328Glu)
 COSMIC
8g.54624843A>TCA370988975RP1c.961A>T (p.Lys321Ter)
c.787+2555A>T (n.787+2555A>T)
c.982A>T (p.Lys328Ter)
8g.54624843_54624845delCA2499219342RP1c.961_963del (p.Lys321del)
c.787+2555_787+2557del (n.787+2555_787+2557del)
c.982_984del (p.Lys328del)
 ClinVar dbSNP
8g.54624844A=CA1785187639RP1c.962A= (p.Lys321=)
c.787+2556A= (n.787+2556A=)
c.983A= (p.Lys328=)
8g.54624844A>CCA370988978RP1c.962A>C (p.Lys321Thr)
c.787+2556A>C (n.787+2556A>C)
c.983A>C (p.Lys328Thr)
8g.54624844A>GCA370988977RP1c.962A>G (p.Lys321Arg)
c.787+2556A>G (n.787+2556A>G)
c.983A>G (p.Lys328Arg)
8g.54624844A>TCA370988976RP1c.962A>T (p.Lys321Ile)
c.787+2556A>T (n.787+2556A>T)
c.983A>T (p.Lys328Ile)
 dbSNP gnomAD v2 gnomAD v4
8g.54624845A>CCA370988979RP1c.963A>C (p.Lys321Asn)
c.787+2557A>C (n.787+2557A>C)
c.984A>C (p.Lys328Asn)
8g.54624845A>GCA461098111RP1c.963A>G (p.Lys321=)
c.787+2557A>G (n.787+2557A>G)
c.984A>G (p.Lys328=)
8g.54624845A>TCA370988980RP1c.963A>T (p.Lys321Asn)
c.787+2557A>T (n.787+2557A>T)
c.984A>T (p.Lys328Asn)
8g.54624846T>ACA370988981RP1c.964T>A (p.Ser322Thr)
c.787+2558T>A (n.787+2558T>A)
c.985T>A (p.Ser329Thr)
 dbSNP gnomAD v2 gnomAD v4
8g.54624846T>CCA370988982RP1c.964T>C (p.Ser322Pro)
c.787+2558T>C (n.787+2558T>C)
c.985T>C (p.Ser329Pro)
8g.54624846T>GCA370988983RP1c.964T>G (p.Ser322Ala)
c.787+2558T>G (n.787+2558T>G)
c.985T>G (p.Ser329Ala)
8g.54624846T=CA1785187640RP1c.964T= (p.Ser322=)
c.787+2558T= (n.787+2558T=)
c.985T= (p.Ser329=)
8g.54624847C>ACA4751300RP1c.965C>A (p.Ser322Ter)
c.787+2559C>A (n.787+2559C>A)
c.986C>A (p.Ser329Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54624847C=CA1785187641RP1c.965C= (p.Ser322=)
c.787+2559C= (n.787+2559C=)
c.986C= (p.Ser329=)
8g.54624847C>GCA370988984RP1c.965C>G (p.Ser322Ter)
c.787+2559C>G (n.787+2559C>G)
c.986C>G (p.Ser329Ter)
8g.54624847C>TCA177236584RP1c.965C>T (p.Ser322Leu)
c.787+2559C>T (n.787+2559C>T)
c.986C>T (p.Ser329Leu)
 dbSNP
8g.54624848A>CCA461098113RP1c.966A>C (p.Ser322=)
c.787+2560A>C (n.787+2560A>C)
c.987A>C (p.Ser329=)
8g.54624848A>GCA461098114RP1c.966A>G (p.Ser322=)
c.787+2560A>G (n.787+2560A>G)
c.987A>G (p.Ser329=)
8g.54624848A>TCA461098115RP1c.966A>T (p.Ser322=)
c.787+2560A>T (n.787+2560A>T)
c.987A>T (p.Ser329=)
8g.54624848_54624850delCA2687300913RP1c.966_968del (p.Ile323del)
c.787+2560_787+2562del (n.787+2560_787+2562del)
c.987_989del (p.Ile330del)
 gnomAD v4
8g.54624849A=CA1785187642RP1c.967A= (p.Ile323=)
c.787+2561A= (n.787+2561A=)
c.988A= (p.Ile330=)
8g.54624849A>CCA370988985RP1c.967A>C (p.Ile323Leu)
c.787+2561A>C (n.787+2561A>C)
c.988A>C (p.Ile330Leu)
8g.54624849A>GCA370988986RP1c.967A>G (p.Ile323Val)
c.787+2561A>G (n.787+2561A>G)
c.988A>G (p.Ile330Val)
 dbSNP
8g.54624849A>TCA370988987RP1c.967A>T (p.Ile323Phe)
c.787+2561A>T (n.787+2561A>T)
c.988A>T (p.Ile330Phe)
8g.54624850T>ACA370988988RP1c.968T>A (p.Ile323Asn)
c.787+2562T>A (n.787+2562T>A)
c.989T>A (p.Ile330Asn)
8g.54624850T>CCA370988989RP1c.968T>C (p.Ile323Thr)
c.787+2562T>C (n.787+2562T>C)
c.989T>C (p.Ile330Thr)
 ClinVar
8g.54624850T>GCA370988990RP1c.968T>G (p.Ile323Ser)
c.787+2562T>G (n.787+2562T>G)
c.989T>G (p.Ile330Ser)
8g.54624851T>ACA461098120RP1c.969T>A (p.Ile323=)
c.787+2563T>A (n.787+2563T>A)
c.990T>A (p.Ile330=)
 dbSNP
8g.54624851T>CCA461098121RP1c.969T>C (p.Ile323=)
c.787+2563T>C (n.787+2563T>C)
c.990T>C (p.Ile330=)
8g.54624851T>GCA370988991RP1c.969T>G (p.Ile323Met)
c.787+2563T>G (n.787+2563T>G)
c.990T>G (p.Ile330Met)
8g.54624852A>CCA370988992RP1c.970A>C (p.Ile324Leu)
c.787+2564A>C (n.787+2564A>C)
c.991A>C (p.Ile331Leu)
8g.54624852A>GCA370988993RP1c.970A>G (p.Ile324Val)
c.787+2564A>G (n.787+2564A>G)
c.991A>G (p.Ile331Val)
 ClinVar gnomAD v4
8g.54624852A>TCA370988994RP1c.970A>T (p.Ile324Phe)
c.787+2564A>T (n.787+2564A>T)
c.991A>T (p.Ile331Phe)
8g.54624853T>ACA370988995RP1c.971T>A (p.Ile324Asn)
c.787+2565T>A (n.787+2565T>A)
c.992T>A (p.Ile331Asn)
8g.54624853T>CCA370988996RP1c.971T>C (p.Ile324Thr)
c.787+2565T>C (n.787+2565T>C)
c.992T>C (p.Ile331Thr)
8g.54624853T>GCA370988997RP1c.971T>G (p.Ile324Ser)
c.787+2565T>G (n.787+2565T>G)
c.992T>G (p.Ile331Ser)
8g.54624854T>ACA461098123RP1c.972T>A (p.Ile324=)
c.787+2566T>A (n.787+2566T>A)
c.993T>A (p.Ile331=)
8g.54624854T>CCA461098125RP1c.972T>C (p.Ile324=)
c.787+2566T>C (n.787+2566T>C)
c.993T>C (p.Ile331=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.54624854T>GCA370988998RP1c.972T>G (p.Ile324Met)
c.787+2566T>G (n.787+2566T>G)
c.993T>G (p.Ile331Met)
 gnomAD v4
8g.54624854T=CA1785187643RP1c.972T= (p.Ile324=)
c.787+2566T= (n.787+2566T=)
c.993T= (p.Ile331=)
8g.54624855T>ACA370988999RP1c.973T>A (p.Phe325Ile)
c.787+2567T>A (n.787+2567T>A)
c.994T>A (p.Phe332Ile)
8g.54624855T>CCA370989000RP1c.973T>C (p.Phe325Leu)
c.787+2567T>C (n.787+2567T>C)
c.994T>C (p.Phe332Leu)
8g.54624855T>GCA370989001RP1c.973T>G (p.Phe325Val)
c.787+2567T>G (n.787+2567T>G)
c.994T>G (p.Phe332Val)
8g.54624856T>ACA370989002RP1c.974T>A (p.Phe325Tyr)
c.787+2568T>A (n.787+2568T>A)
c.995T>A (p.Phe332Tyr)
8g.54624856T>CCA370989003RP1c.974T>C (p.Phe325Ser)
c.787+2568T>C (n.787+2568T>C)
c.995T>C (p.Phe332Ser)
8g.54624856T>GCA370989004RP1c.974T>G (p.Phe325Cys)
c.787+2568T>G (n.787+2568T>G)
c.995T>G (p.Phe332Cys)
8g.54624857T>ACA370989006RP1c.975T>A (p.Phe325Leu)
c.787+2569T>A (n.787+2569T>A)
c.996T>A (p.Phe332Leu)
8g.54624857T>CCA461098129RP1c.975T>C (p.Phe325=)
c.787+2569T>C (n.787+2569T>C)
c.996T>C (p.Phe332=)
8g.54624857T>GCA370989005RP1c.975T>G (p.Phe325Leu)
c.787+2569T>G (n.787+2569T>G)
c.996T>G (p.Phe332Leu)
 dbSNP gnomAD v2
8g.54624857T=CA1785187644RP1c.975T= (p.Phe325=)
c.787+2569T= (n.787+2569T=)
c.996T= (p.Phe332=)
8g.54624858A>CCA370989007RP1c.976A>C (p.Asn326His)
c.787+2570A>C (n.787+2570A>C)
c.997A>C (p.Asn333His)
8g.54624858A>GCA370989009RP1c.976A>G (p.Asn326Asp)
c.787+2570A>G (n.787+2570A>G)
c.997A>G (p.Asn333Asp)
8g.54624858A>TCA370989008RP1c.976A>T (p.Asn326Tyr)
c.787+2570A>T (n.787+2570A>T)
c.997A>T (p.Asn333Tyr)
8g.54624859A>CCA370989010RP1c.977A>C (p.Asn326Thr)
c.787+2571A>C (n.787+2571A>C)
c.998A>C (p.Asn333Thr)
8g.54624859A>GCA370989012RP1c.977A>G (p.Asn326Ser)
c.787+2571A>G (n.787+2571A>G)
c.998A>G (p.Asn333Ser)
8g.54624859A>TCA370989011RP1c.977A>T (p.Asn326Ile)
c.787+2571A>T (n.787+2571A>T)
c.998A>T (p.Asn333Ile)
8g.54624860T>ACA370989013RP1c.978T>A (p.Asn326Lys)
c.787+2572T>A (n.787+2572T>A)
c.999T>A (p.Asn333Lys)
8g.54624860T>CCA461098134RP1c.978T>C (p.Asn326=)
c.787+2572T>C (n.787+2572T>C)
c.999T>C (p.Asn333=)
8g.54624860T>GCA370989014RP1c.978T>G (p.Asn326Lys)
c.787+2572T>G (n.787+2572T>G)
c.999T>G (p.Asn333Lys)
8g.54624861C>ACA370989015RP1c.979C>A (p.Gln327Lys)
c.787+2573C>A (n.787+2573C>A)
c.1000C>A (p.Gln334Lys)
8g.54624861C>GCA370989017RP1c.979C>G (p.Gln327Glu)
c.787+2573C>G (n.787+2573C>G)
c.1000C>G (p.Gln334Glu)
 COSMIC
8g.54624861C>TCA370989016RP1c.979C>T (p.Gln327Ter)
c.787+2573C>T (n.787+2573C>T)
c.1000C>T (p.Gln334Ter)
8g.54624862A>CCA370989018RP1c.980A>C (p.Gln327Pro)
c.787+2574A>C (n.787+2574A>C)
c.1001A>C (p.Gln334Pro)
8g.54624862A>GCA370989020RP1c.980A>G (p.Gln327Arg)
c.787+2574A>G (n.787+2574A>G)
c.1001A>G (p.Gln334Arg)
8g.54624862A>TCA370989019RP1c.980A>T (p.Gln327Leu)
c.787+2574A>T (n.787+2574A>T)
c.1001A>T (p.Gln334Leu)
8g.54624863A=CA1785187645RP1c.981A= (p.Gln327=)
c.787+2575A= (n.787+2575A=)
c.1002A= (p.Gln334=)
8g.54624863A>CCA370989021RP1c.981A>C (p.Gln327His)
c.787+2575A>C (n.787+2575A>C)
c.1002A>C (p.Gln334His)
8g.54624863A>GCA461098137RP1c.981A>G (p.Gln327=)
c.787+2575A>G (n.787+2575A>G)
c.1002A>G (p.Gln334=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.54624863A>TCA370989022RP1c.981A>T (p.Gln327His)
c.787+2575A>T (n.787+2575A>T)
c.1002A>T (p.Gln334His)
8g.54624864G>ACA370989023RP1c.982G>A (p.Asp328Asn)
c.787+2576G>A (n.787+2576G>A)
c.1003G>A (p.Asp335Asn)
8g.54624864G>CCA370989024RP1c.982G>C (p.Asp328His)
c.787+2576G>C (n.787+2576G>C)
c.1003G>C (p.Asp335His)
8g.54624864G>TCA370989025RP1c.982G>T (p.Asp328Tyr)
c.787+2576G>T (n.787+2576G>T)
c.1003G>T (p.Asp335Tyr)
 gnomAD v4
8g.54624865A=CA1785187646RP1c.983A= (p.Asp328=)
c.787+2577A= (n.787+2577A=)
c.1004A= (p.Asp335=)
8g.54624865A>CCA370989026RP1c.983A>C (p.Asp328Ala)
c.787+2577A>C (n.787+2577A>C)
c.1004A>C (p.Asp335Ala)
8g.54624865A>GCA370989027RP1c.983A>G (p.Asp328Gly)
c.787+2577A>G (n.787+2577A>G)
c.1004A>G (p.Asp335Gly)
 dbSNP gnomAD v4
8g.54624865A>TCA370989028RP1c.983A>T (p.Asp328Val)
c.787+2577A>T (n.787+2577A>T)
c.1004A>T (p.Asp335Val)
 dbSNP gnomAD v4
8g.54624866C>ACA370989029RP1c.984C>A (p.Asp328Glu)
c.787+2578C>A (n.787+2578C>A)
c.1005C>A (p.Asp335Glu)
8g.54624866C=CA1785187647RP1c.984C= (p.Asp328=)
c.787+2578C= (n.787+2578C=)
c.1005C= (p.Asp335=)
8g.54624866C>GCA370989030RP1c.984C>G (p.Asp328Glu)
c.787+2578C>G (n.787+2578C>G)
c.1005C>G (p.Asp335Glu)
8g.54624866C>TCA4751301RP1c.984C>T (p.Asp328=)
c.787+2578C>T (n.787+2578C>T)
c.1005C>T (p.Asp335=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.54624867G>ACA4751302RP1c.985G>A (p.Gly329Ser)
c.787+2579G>A (n.787+2579G>A)
c.1006G>A (p.Gly336Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54624867G>CCA370989031RP1c.985G>C (p.Gly329Arg)
c.787+2579G>C (n.787+2579G>C)
c.1006G>C (p.Gly336Arg)
8g.54624867G=CA1785187648RP1c.985G= (p.Gly329=)
c.787+2579G= (n.787+2579G=)
c.1006G= (p.Gly336=)
8g.54624867G>TCA370989032RP1c.985G>T (p.Gly329Cys)
c.787+2579G>T (n.787+2579G>T)
c.1006G>T (p.Gly336Cys)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
8g.54624868G>ACA370989033RP1c.986G>A (p.Gly329Asp)
c.787+2580G>A (n.787+2580G>A)
c.1007G>A (p.Gly336Asp)
 dbSNP gnomAD v2 gnomAD v4
8g.54624868G>CCA370989035RP1c.986G>C (p.Gly329Ala)
c.787+2580G>C (n.787+2580G>C)
c.1007G>C (p.Gly336Ala)
8g.54624868G=CA1785187649RP1c.986G= (p.Gly329=)
c.787+2580G= (n.787+2580G=)
c.1007G= (p.Gly336=)
8g.54624868G>TCA370989034RP1c.986G>T (p.Gly329Val)
c.787+2580G>T (n.787+2580G>T)
c.1007G>T (p.Gly336Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
8g.54624869C>ACA461098148RP1c.987C>A (p.Gly329=)
c.787+2581C>A (n.787+2581C>A)
c.1008C>A (p.Gly336=)
8g.54624869C>GCA461098149RP1c.987C>G (p.Gly329=)
c.787+2581C>G (n.787+2581C>G)
c.1008C>G (p.Gly336=)
 gnomAD v4
8g.54624869C>TCA461098150RP1c.987C>T (p.Gly329=)
c.787+2581C>T (n.787+2581C>T)
c.1008C>T (p.Gly336=)
8g.54624870A>CCA370989036RP1c.988A>C (p.Thr330Pro)
c.787+2582A>C (n.787+2582A>C)
c.1009A>C (p.Thr337Pro)
8g.54624870A>GCA370989037RP1c.988A>G (p.Thr330Ala)
c.787+2582A>G (n.787+2582A>G)
c.1009A>G (p.Thr337Ala)
 gnomAD v4
8g.54624870A>TCA370989038RP1c.988A>T (p.Thr330Ser)
c.787+2582A>T (n.787+2582A>T)
c.1009A>T (p.Thr337Ser)
8g.54624871C>ACA370989039RP1c.989C>A (p.Thr330Asn)
c.787+2583C>A (n.787+2583C>A)
c.1010C>A (p.Thr337Asn)
8g.54624871C>GCA370989040RP1c.989C>G (p.Thr330Ser)
c.787+2583C>G (n.787+2583C>G)
c.1010C>G (p.Thr337Ser)
8g.54624871C>TCA370989041RP1c.989C>T (p.Thr330Ile)
c.787+2583C>T (n.787+2583C>T)
c.1010C>T (p.Thr337Ile)
8g.54624872T>ACA461098154RP1c.990T>A (p.Thr330=)
c.787+2584T>A (n.787+2584T>A)
c.1011T>A (p.Thr337=)
8g.54624872T>CCA461098152RP1c.990T>C (p.Thr330=)
c.787+2584T>C (n.787+2584T>C)
c.1011T>C (p.Thr337=)
 dbSNP gnomAD v4
8g.54624872T>GCA461098153RP1c.990T>G (p.Thr330=)
c.787+2584T>G (n.787+2584T>G)
c.1011T>G (p.Thr337=)
8g.54624872T=CA1785187650RP1c.990T= (p.Thr330=)
c.787+2584T= (n.787+2584T=)
c.1011T= (p.Thr337=)
8g.54624873A=CA1785187651RP1c.991A= (p.Met331=)
c.787+2585A= (n.787+2585A=)
c.1012A= (p.Met338=)
8g.54624873A>CCA370989042RP1c.991A>C (p.Met331Leu)
c.787+2585A>C (n.787+2585A>C)
c.1012A>C (p.Met338Leu)
8g.54624873A>GCA4751303RP1c.991A>G (p.Met331Val)
c.787+2585A>G (n.787+2585A>G)
c.1012A>G (p.Met338Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54624873A>TCA370989043RP1c.991A>T (p.Met331Leu)
c.787+2585A>T (n.787+2585A>T)
c.1012A>T (p.Met338Leu)
8g.54624874T>ACA370989045RP1c.992T>A (p.Met331Lys)
c.787+2586T>A (n.787+2586T>A)
c.1013T>A (p.Met338Lys)
 gnomAD v4
8g.54624874T>CCA370989046RP1c.992T>C (p.Met331Thr)
c.787+2586T>C (n.787+2586T>C)
c.1013T>C (p.Met338Thr)
8g.54624874T>GCA370989044RP1c.992T>G (p.Met331Arg)
c.787+2586T>G (n.787+2586T>G)
c.1013T>G (p.Met338Arg)
8g.54624875G>ACA370989047RP1c.993G>A (p.Met331Ile)
c.787+2587G>A (n.787+2587G>A)
c.1014G>A (p.Met338Ile)
8g.54624875G>CCA370989048RP1c.993G>C (p.Met331Ile)
c.787+2587G>C (n.787+2587G>C)
c.1014G>C (p.Met338Ile)
8g.54624875G>TCA370989049RP1c.993G>T (p.Met331Ile)
c.787+2587G>T (n.787+2587G>T)
c.1014G>T (p.Met338Ile)
 gnomAD v4
8g.54624875_54624876delinsGACA1785187652RP1c.993_994delinsGA (p.Met331=)
c.787+2587_787+2588delinsGA (n.787+2587_787+2588delinsGA)
c.1014_1015delinsGA (p.Met338=)
8g.54624876delCA461098162RP1c.994del (p.Thr332GlnfsTer4)
c.787+2588del (n.787+2588del)
c.1015del (p.Thr339GlnfsTer4)
 dbSNP
8g.54624876A>CCA370989050RP1c.994A>C (p.Thr332Pro)
c.787+2588A>C (n.787+2588A>C)
c.1015A>C (p.Thr339Pro)
8g.54624876A>GCA370989051RP1c.994A>G (p.Thr332Ala)
c.787+2588A>G (n.787+2588A>G)
c.1015A>G (p.Thr339Ala)
8g.54624876A>TCA370989052RP1c.994A>T (p.Thr332Ser)
c.787+2588A>T (n.787+2588A>T)
c.1015A>T (p.Thr339Ser)
8g.54624877delCA370989054RP1c.995del (p.Thr332LysfsTer4)
c.787+2589del (n.787+2589del)
c.1016del (p.Thr339LysfsTer4)
8g.54624877C>ACA370989053RP1c.995C>A (p.Thr332Lys)
c.787+2589C>A (n.787+2589C>A)
c.1016C>A (p.Thr339Lys)
8g.54624877C>GCA370989056RP1c.995C>G (p.Thr332Arg)
c.787+2589C>G (n.787+2589C>G)
c.1016C>G (p.Thr339Arg)
8g.54624877C>TCA370989055RP1c.995C>T (p.Thr332Ile)
c.787+2589C>T (n.787+2589C>T)
c.1016C>T (p.Thr339Ile)
8g.54624878A>CCA461098166RP1c.996A>C (p.Thr332=)
c.787+2590A>C (n.787+2590A>C)
c.1017A>C (p.Thr339=)
8g.54624878A>GCA461098167RP1c.996A>G (p.Thr332=)
c.787+2590A>G (n.787+2590A>G)
c.1017A>G (p.Thr339=)
8g.54624878A>TCA461098168RP1c.996A>T (p.Thr332=)
c.787+2590A>T (n.787+2590A>T)
c.1017A>T (p.Thr339=)
8g.54624879G>ACA4751304RP1c.997G>A (p.Val333Ile)
c.787+2591G>A (n.787+2591G>A)
c.1018G>A (p.Val340Ile)
 dbSNP ExAC gnomAD v2
8g.54624879G>CCA177236590RP1c.997G>C (p.Val333Leu)
c.787+2591G>C (n.787+2591G>C)
c.1018G>C (p.Val340Leu)
 dbSNP
8g.54624879G=CA1785187653RP1c.997G= (p.Val333=)
c.787+2591G= (n.787+2591G=)
c.1018G= (p.Val340=)
8g.54624879G>TCA370989057RP1c.997G>T (p.Val333Phe)
c.787+2591G>T (n.787+2591G>T)
c.1018G>T (p.Val340Phe)
8g.54624880T>ACA370989058RP1c.998T>A (p.Val333Asp)
c.787+2592T>A (n.787+2592T>A)
c.1019T>A (p.Val340Asp)
8g.54624880T>CCA370989060RP1c.998T>C (p.Val333Ala)
c.787+2592T>C (n.787+2592T>C)
c.1019T>C (p.Val340Ala)
 gnomAD v4
8g.54624880T>GCA370989059RP1c.998T>G (p.Val333Gly)
c.787+2592T>G (n.787+2592T>G)
c.1019T>G (p.Val340Gly)
8g.54624880_54624885delinsTTGAGACA1785187654RP1c.998_1003delinsTTGAGA (p.Val333=)
c.787+2592_787+2597delinsTTGAGA (n.787+2592_787+2597delinsTTGAGA)
c.1019_1024delinsTTGAGA (p.Val340=)
8g.54624881T>ACA461098171RP1c.999T>A (p.Val333=)
c.787+2593T>A (n.787+2593T>A)
c.1020T>A (p.Val340=)
8g.54624881T>CCA461098172RP1c.999T>C (p.Val333=)
c.787+2593T>C (n.787+2593T>C)
c.1020T>C (p.Val340=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54624881T>GCA461098173RP1c.999T>G (p.Val333=)
c.787+2593T>G (n.787+2593T>G)
c.1020T>G (p.Val340=)
8g.54624881T=CA1785187655RP1c.999T= (p.Val333=)
c.787+2593T= (n.787+2593T=)
c.1020T= (p.Val340=)
8g.54624884_54624888delCA582187726RP1c.1002_1006del (p.Met335SerfsTer19)
c.787+2596_787+2600del (n.787+2596_787+2600del)
c.1023_1027del (p.Met342SerfsTer19)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
8g.54624882G>ACA370989061RP1c.1000G>A (p.Glu334Lys)
c.787+2594G>A (n.787+2594G>A)
c.1021G>A (p.Glu341Lys)
8g.54624882G>CCA370989062RP1c.1000G>C (p.Glu334Gln)
c.787+2594G>C (n.787+2594G>C)
c.1021G>C (p.Glu341Gln)
8g.54624882G>TCA370989063RP1c.1000G>T (p.Glu334Ter)
c.787+2594G>T (n.787+2594G>T)
c.1021G>T (p.Glu341Ter)
8g.54624883A>CCA370989064RP1c.1001A>C (p.Glu334Ala)
c.787+2595A>C (n.787+2595A>C)
c.1022A>C (p.Glu341Ala)
8g.54624883A>GCA370989065RP1c.1001A>G (p.Glu334Gly)
c.787+2595A>G (n.787+2595A>G)
c.1022A>G (p.Glu341Gly)
8g.54624883A>TCA370989066RP1c.1001A>T (p.Glu334Val)
c.787+2595A>T (n.787+2595A>T)
c.1022A>T (p.Glu341Val)
8g.54624883dupCA2695209500RP1c.1001dup (p.Met335AspfsTer21)
c.787+2595dup (n.787+2595dup)
c.1022dup (p.Met342AspfsTer21)
 ClinVar dbSNP
8g.54624884G>ACA461098177RP1c.1002G>A (p.Glu334=)
c.787+2596G>A (n.787+2596G>A)
c.1023G>A (p.Glu341=)
8g.54624884G>CCA370989067RP1c.1002G>C (p.Glu334Asp)
c.787+2596G>C (n.787+2596G>C)
c.1023G>C (p.Glu341Asp)
8g.54624884G>TCA370989068RP1c.1002G>T (p.Glu334Asp)
c.787+2596G>T (n.787+2596G>T)
c.1023G>T (p.Glu341Asp)
8g.54624885A>CCA370989069RP1c.1003A>C (p.Met335Leu)
c.787+2597A>C (n.787+2597A>C)
c.1024A>C (p.Met342Leu)
8g.54624885A>GCA370989070RP1c.1003A>G (p.Met335Val)
c.787+2597A>G (n.787+2597A>G)
c.1024A>G (p.Met342Val)
8g.54624885A>TCA370989071RP1c.1003A>T (p.Met335Leu)
c.787+2597A>T (n.787+2597A>T)
c.1024A>T (p.Met342Leu)
 COSMIC
8g.54624886T>ACA370989073RP1c.1004T>A (p.Met335Lys)
c.787+2598T>A (n.787+2598T>A)
c.1025T>A (p.Met342Lys)
8g.54624886T>CCA4751305RP1c.1004T>C (p.Met335Thr)
c.787+2598T>C (n.787+2598T>C)
c.1025T>C (p.Met342Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54624886T>GCA370989072RP1c.1004T>G (p.Met335Arg)
c.787+2598T>G (n.787+2598T>G)
c.1025T>G (p.Met342Arg)
8g.54624886T=CA1785187656RP1c.1004T= (p.Met335=)
c.787+2598T= (n.787+2598T=)
c.1025T= (p.Met342=)
8g.54624887G>ACA370989076RP1c.1005G>A (p.Met335Ile)
c.787+2599G>A (n.787+2599G>A)
c.1026G>A (p.Met342Ile)
 COSMIC
8g.54624887G>CCA370989074RP1c.1005G>C (p.Met335Ile)
c.787+2599G>C (n.787+2599G>C)
c.1026G>C (p.Met342Ile)
 COSMIC
8g.54624887G=CA1785187657RP1c.1005G= (p.Met335=)
c.787+2599G= (n.787+2599G=)
c.1026G= (p.Met342=)
8g.54624887G>TCA370989075RP1c.1005G>T (p.Met335Ile)
c.787+2599G>T (n.787+2599G>T)
c.1026G>T (p.Met342Ile)
 dbSNP gnomAD v4
8g.54624888A>CCA370989077RP1c.1006A>C (p.Lys336Gln)
c.787+2600A>C (n.787+2600A>C)
c.1027A>C (p.Lys343Gln)
8g.54624888A>GCA370989078RP1c.1006A>G (p.Lys336Glu)
c.787+2600A>G (n.787+2600A>G)
c.1027A>G (p.Lys343Glu)
 gnomAD v4
8g.54624888A>TCA370989079RP1c.1006A>T (p.Lys336Ter)
c.787+2600A>T (n.787+2600A>T)
c.1027A>T (p.Lys343Ter)
8g.54624889A=CA1785187658RP1c.1007A= (p.Lys336=)
c.787+2601A= (n.787+2601A=)
c.1028A= (p.Lys343=)
8g.54624889A>CCA370989080RP1c.1007A>C (p.Lys336Thr)
c.787+2601A>C (n.787+2601A>C)
c.1028A>C (p.Lys343Thr)
 ClinVar
8g.54624889A>GCA370989081RP1c.1007A>G (p.Lys336Arg)
c.787+2601A>G (n.787+2601A>G)
c.1028A>G (p.Lys343Arg)
 gnomAD v4
8g.54624889A>TCA370989082RP1c.1007A>T (p.Lys336Ile)
c.787+2601A>T (n.787+2601A>T)
c.1028A>T (p.Lys343Ile)
 dbSNP gnomAD v4
8g.54624890A>CCA370989083RP1c.1008A>C (p.Lys336Asn)
c.787+2602A>C (n.787+2602A>C)
c.1029A>C (p.Lys343Asn)
8g.54624890A>GCA461098183RP1c.1008A>G (p.Lys336=)
c.787+2602A>G (n.787+2602A>G)
c.1029A>G (p.Lys343=)
8g.54624890A>TCA370989084RP1c.1008A>T (p.Lys336Asn)
c.787+2602A>T (n.787+2602A>T)
c.1029A>T (p.Lys343Asn)
8g.54624891G>ACA370989085RP1c.1009G>A (p.Val337Ile)
c.787+2603G>A (n.787+2603G>A)
c.1030G>A (p.Val344Ile)
8g.54624891G>CCA370989086RP1c.1009G>C (p.Val337Leu)
c.787+2603G>C (n.787+2603G>C)
c.1030G>C (p.Val344Leu)
8g.54624891G>TCA370989087RP1c.1009G>T (p.Val337Phe)
c.787+2603G>T (n.787+2603G>T)
c.1030G>T (p.Val344Phe)
 gnomAD v4
8g.54624892T>ACA370989088RP1c.1010T>A (p.Val337Asp)
c.787+2604T>A (n.787+2604T>A)
c.1031T>A (p.Val344Asp)
8g.54624892T>CCA370989090RP1c.1010T>C (p.Val337Ala)
c.787+2604T>C (n.787+2604T>C)
c.1031T>C (p.Val344Ala)
 gnomAD v4
8g.54624892T>GCA370989089RP1c.1010T>G (p.Val337Gly)
c.787+2604T>G (n.787+2604T>G)
c.1031T>G (p.Val344Gly)
8g.54624893T>ACA461098188RP1c.1011T>A (p.Val337=)
c.787+2605T>A (n.787+2605T>A)
c.1032T>A (p.Val344=)
8g.54624893T>CCA461098190RP1c.1011T>C (p.Val337=)
c.787+2605T>C (n.787+2605T>C)
c.1032T>C (p.Val344=)
8g.54624893T>GCA461098189RP1c.1011T>G (p.Val337=)
c.787+2605T>G (n.787+2605T>G)
c.1032T>G (p.Val344=)
8g.54624894C>ACA461098191RP1c.1012C>A (p.Arg338=)
c.787+2606C>A (n.787+2606C>A)
c.1033C>A (p.Arg345=)
8g.54624894C=CA1785187659RP1c.1012C= (p.Arg338=)
c.787+2606C= (n.787+2606C=)
c.1033C= (p.Arg345=)
8g.54624894C>GCA370989091RP1c.1012C>G (p.Arg338Gly)
c.787+2606C>G (n.787+2606C>G)
c.1033C>G (p.Arg345Gly)
8g.54624894C>TCA370989092RP1c.1012C>T (p.Arg338Ter)
c.787+2606C>T (n.787+2606C>T)
c.1033C>T (p.Arg345Ter)
 ClinVar dbSNP gnomAD v4 COSMIC
8g.54624895G>ACA4751306RP1c.1013G>A (p.Arg338Gln)
c.787+2607G>A (n.787+2607G>A)
c.1034G>A (p.Arg345Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
8g.54624895G>CCA370989093RP1c.1013G>C (p.Arg338Pro)
c.787+2607G>C (n.787+2607G>C)
c.1034G>C (p.Arg345Pro)
8g.54624895G=CA1785187660RP1c.1013G= (p.Arg338=)
c.787+2607G= (n.787+2607G=)
c.1034G= (p.Arg345=)
8g.54624895G>TCA370989094RP1c.1013G>T (p.Arg338Leu)
c.787+2607G>T (n.787+2607G>T)
c.1034G>T (p.Arg345Leu)
 gnomAD v4
8g.54624896A>CCA461098196RP1c.1014A>C (p.Arg338=)
c.787+2608A>C (n.787+2608A>C)
c.1035A>C (p.Arg345=)
8g.54624896A>GCA461098197RP1c.1014A>G (p.Arg338=)
c.787+2608A>G (n.787+2608A>G)
c.1035A>G (p.Arg345=)
8g.54624896A>TCA461098198RP1c.1014A>T (p.Arg338=)
c.787+2608A>T (n.787+2608A>T)
c.1035A>T (p.Arg345=)
8g.54624897T>ACA370989095RP1c.1015T>A (p.Phe339Ile)
c.787+2609T>A (n.787+2609T>A)
c.1036T>A (p.Phe346Ile)
8g.54624897T>CCA370989096RP1c.1015T>C (p.Phe339Leu)
c.787+2609T>C (n.787+2609T>C)
c.1036T>C (p.Phe346Leu)
8g.54624897T>GCA370989097RP1c.1015T>G (p.Phe339Val)
c.787+2609T>G (n.787+2609T>G)
c.1036T>G (p.Phe346Val)
8g.54624898T>ACA370989098RP1c.1016T>A (p.Phe339Tyr)
c.787+2610T>A (n.787+2610T>A)
c.1037T>A (p.Phe346Tyr)
8g.54624898T>CCA370989099RP1c.1016T>C (p.Phe339Ser)
c.787+2610T>C (n.787+2610T>C)
c.1037T>C (p.Phe346Ser)
8g.54624898T>GCA370989100RP1c.1016T>G (p.Phe339Cys)
c.787+2610T>G (n.787+2610T>G)
c.1037T>G (p.Phe346Cys)
8g.54624899C>ACA370989102RP1c.1017C>A (p.Phe339Leu)
c.787+2611C>A (n.787+2611C>A)
c.1038C>A (p.Phe346Leu)
8g.54624899C>GCA370989101RP1c.1017C>G (p.Phe339Leu)
c.787+2611C>G (n.787+2611C>G)
c.1038C>G (p.Phe346Leu)
8g.54624899C>TCA461098205RP1c.1017C>T (p.Phe339=)
c.787+2611C>T (n.787+2611C>T)
c.1038C>T (p.Phe346=)
8g.54624900A=CA1785187661RP1c.1018A= (p.Arg340=)
c.787+2612A= (n.787+2612A=)
c.1039A= (p.Arg347=)
8g.54624900A>CCA4751307RP1c.1018A>C (p.Arg340=)
c.787+2612A>C (n.787+2612A>C)
c.1039A>C (p.Arg347=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54624900A>GCA177236597RP1c.1018A>G (p.Arg340Gly)
c.787+2612A>G (n.787+2612A>G)
c.1039A>G (p.Arg347Gly)
 ClinVar dbSNP gnomAD v4
8g.54624900A>TCA370989103RP1c.1018A>T (p.Arg340Ter)
c.787+2612A>T (n.787+2612A>T)
c.1039A>T (p.Arg347Ter)
8g.54624901G>ACA370989104RP1c.1019G>A (p.Arg340Lys)
c.787+2613G>A (n.787+2613G>A)
c.1040G>A (p.Arg347Lys)
8g.54624901G>CCA370989105RP1c.1019G>C (p.Arg340Thr)
c.787+2613G>C (n.787+2613G>C)
c.1040G>C (p.Arg347Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54624901G=CA1785187662RP1c.1019G= (p.Arg340=)
c.787+2613G= (n.787+2613G=)
c.1040G= (p.Arg347=)
8g.54624901G>TCA370989106RP1c.1019G>T (p.Arg340Ile)
c.787+2613G>T (n.787+2613G>T)
c.1040G>T (p.Arg347Ile)
 COSMIC
8g.54624901dupCA582187727RP1c.1019dup (p.Ile341AsnfsTer15)
c.787+2613dup (n.787+2613dup)
c.1040dup (p.Ile348AsnfsTer15)
 gnomAD v2

Number of alleles fetched