Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.7582933_7587670delinsAGAACAGTCTTCA2580075482 ClinVar
6g.7582933_7587670delinsAGAGAAGAACAGTCTTCA915944145 ClinVar
6g.7582934_7587655delCA2695202641
6g.7585818C>ACA448531293DSPc.7227C>A (p.Ala2409=)
c.8556C>A (p.Ala2852=)
c.6759C>A (p.Ala2253=)
6g.7585818C=CA1608616076DSPc.7227C= (p.Ala2409=)
c.8556C= (p.Ala2852=)
c.6759C= (p.Ala2253=)
6g.7585818C>GCA448531294DSPc.7227C>G (p.Ala2409=)
c.8556C>G (p.Ala2852=)
c.6759C>G (p.Ala2253=)
6g.7585818C>TCA448531295DSPc.7227C>T (p.Ala2409=)
c.8556C>T (p.Ala2852=)
c.6759C>T (p.Ala2253=)
ClinVar dbSNP gnomAD v2 gnomAD v4
6g.7585819A=CA1608616080DSPc.7228A= (p.Thr2410=)
c.8557A= (p.Thr2853=)
c.6760A= (p.Thr2254=)
6g.7585819A>CCA133978316DSPc.7228A>C (p.Thr2410Pro)
c.8557A>C (p.Thr2853Pro)
c.6760A>C (p.Thr2254Pro)
dbSNP
6g.7585819A>GCA362695375DSPc.7228A>G (p.Thr2410Ala)
c.8557A>G (p.Thr2853Ala)
c.6760A>G (p.Thr2254Ala)
6g.7585819A>TCA362695376DSPc.7228A>T (p.Thr2410Ser)
c.8557A>T (p.Thr2853Ser)
c.6760A>T (p.Thr2254Ser)
gnomAD v4
6g.7585820C>ACA362695379DSPc.7229C>A (p.Thr2410Lys)
c.8558C>A (p.Thr2853Lys)
c.6761C>A (p.Thr2254Lys)
6g.7585820C>GCA362695378DSPc.7229C>G (p.Thr2410Arg)
c.8558C>G (p.Thr2853Arg)
c.6761C>G (p.Thr2254Arg)
gnomAD v4
6g.7585820C>TCA362695377DSPc.7229C>T (p.Thr2410Ile)
c.8558C>T (p.Thr2853Ile)
c.6761C>T (p.Thr2254Ile)
ClinVar
6g.7585821A=CA1608616088DSPc.7230A= (p.Thr2410=)
c.8559A= (p.Thr2853=)
c.6762A= (p.Thr2254=)
6g.7585821A>CCA448531296DSPc.7230A>C (p.Thr2410=)
c.8559A>C (p.Thr2853=)
c.6762A>C (p.Thr2254=)
ClinVar dbSNP gnomAD v4
6g.7585821A>GCA448531297DSPc.7230A>G (p.Thr2410=)
c.8559A>G (p.Thr2853=)
c.6762A>G (p.Thr2254=)
ClinVar dbSNP
6g.7585821A>TCA448531298DSPc.7230A>T (p.Thr2410=)
c.8559A>T (p.Thr2853=)
c.6762A>T (p.Thr2254=)
6g.7585822G>ACA362695380DSPc.7231G>A (p.Gly2411Arg)
c.8560G>A (p.Gly2854Arg)
c.6763G>A (p.Gly2255Arg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.7585822G>CCA052774DSPc.7231G>C (p.Gly2411Arg)
c.8560G>C (p.Gly2854Arg)
c.6763G>C (p.Gly2255Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7585822G=CA1608616101DSPc.7231G= (p.Gly2411=)
c.8560G= (p.Gly2854=)
c.6763G= (p.Gly2255=)
6g.7585822G>TCA362695381DSPc.7231G>T (p.Gly2411Trp)
c.8560G>T (p.Gly2854Trp)
c.6763G>T (p.Gly2255Trp)
6g.7585823G>ACA133978331DSPc.7232G>A (p.Gly2411Glu)
c.8561G>A (p.Gly2854Glu)
c.6764G>A (p.Gly2255Glu)
dbSNP
6g.7585823G>CCA362695382DSPc.7232G>C (p.Gly2411Ala)
c.8561G>C (p.Gly2854Ala)
c.6764G>C (p.Gly2255Ala)
6g.7585823G=CA1608616108DSPc.7232G= (p.Gly2411=)
c.8561G= (p.Gly2854=)
c.6764G= (p.Gly2255=)
6g.7585823G>TCA362695383DSPc.7232G>T (p.Gly2411Val)
c.8561G>T (p.Gly2854Val)
c.6764G>T (p.Gly2255Val)
6g.7585824G>ACA448531299DSPc.7233G>A (p.Gly2411=)
c.8562G>A (p.Gly2854=)
c.6765G>A (p.Gly2255=)
6g.7585824G>CCA448531300DSPc.7233G>C (p.Gly2411=)
c.8562G>C (p.Gly2854=)
c.6765G>C (p.Gly2255=)
6g.7585824G>TCA448531301DSPc.7233G>T (p.Gly2411=)
c.8562G>T (p.Gly2854=)
c.6765G>T (p.Gly2255=)
6g.7585825A>CCA362695384DSPc.7234A>C (p.Asn2412His)
c.8563A>C (p.Asn2855His)
c.6766A>C (p.Asn2256His)
6g.7585825A>GCA362695385DSPc.7234A>G (p.Asn2412Asp)
c.8563A>G (p.Asn2855Asp)
c.6766A>G (p.Asn2256Asp)
gnomAD v4
6g.7585825A>TCA362695386DSPc.7234A>T (p.Asn2412Tyr)
c.8563A>T (p.Asn2855Tyr)
c.6766A>T (p.Asn2256Tyr)
6g.7585826A=CA1608616114DSPc.7235A= (p.Asn2412=)
c.8564A= (p.Asn2855=)
c.6767A= (p.Asn2256=)
6g.7585826A>CCA362695388DSPc.7235A>C (p.Asn2412Thr)
c.8564A>C (p.Asn2855Thr)
c.6767A>C (p.Asn2256Thr)
6g.7585826A>GCA362695387DSPc.7235A>G (p.Asn2412Ser)
c.8564A>G (p.Asn2855Ser)
c.6767A>G (p.Asn2256Ser)
6g.7585826A>TCA052787DSPc.7235A>T (p.Asn2412Ile)
c.8564A>T (p.Asn2855Ile)
c.6767A>T (p.Asn2256Ile)
dbSNP ExAC gnomAD v2
6g.7585827T>ACA362695389DSPc.7236T>A (p.Asn2412Lys)
c.8565T>A (p.Asn2855Lys)
c.6768T>A (p.Asn2256Lys)
6g.7585827T>CCA448531302DSPc.7236T>C (p.Asn2412=)
c.8565T>C (p.Asn2855=)
c.6768T>C (p.Asn2256=)
6g.7585827T>GCA362695390DSPc.7236T>G (p.Asn2412Lys)
c.8565T>G (p.Asn2855Lys)
c.6768T>G (p.Asn2256Lys)
ClinVar gnomAD v4
6g.7585828T>ACA052797DSPc.7237T>A (p.Ser2413Thr)
c.8566T>A (p.Ser2856Thr)
c.6769T>A (p.Ser2257Thr)
ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
6g.7585828T>CCA362695391DSPc.7237T>C (p.Ser2413Pro)
c.8566T>C (p.Ser2856Pro)
c.6769T>C (p.Ser2257Pro)
6g.7585828T>GCA362695392DSPc.7237T>G (p.Ser2413Ala)
c.8566T>G (p.Ser2856Ala)
c.6769T>G (p.Ser2257Ala)
6g.7585828T=CA1608616119DSPc.7237T= (p.Ser2413=)
c.8566T= (p.Ser2856=)
c.6769T= (p.Ser2257=)
6g.7585829C>ACA362695395DSPc.7238C>A (p.Ser2413Tyr)
c.8567C>A (p.Ser2856Tyr)
c.6770C>A (p.Ser2257Tyr)
gnomAD v4
6g.7585829C=CA1608616124DSPc.7238C= (p.Ser2413=)
c.8567C= (p.Ser2856=)
c.6770C= (p.Ser2257=)
6g.7585829C>GCA362695393DSPc.7238C>G (p.Ser2413Cys)
c.8567C>G (p.Ser2856Cys)
c.6770C>G (p.Ser2257Cys)
COSMIC
6g.7585829C>TCA362695394DSPc.7238C>T (p.Ser2413Phe)
c.8567C>T (p.Ser2856Phe)
c.6770C>T (p.Ser2257Phe)
dbSNP gnomAD v2 gnomAD v4 COSMIC
6g.7585830T>ACA448531303DSPc.7239T>A (p.Ser2413=)
c.8568T>A (p.Ser2856=)
c.6771T>A (p.Ser2257=)
6g.7585830T>CCA448531304DSPc.7239T>C (p.Ser2413=)
c.8568T>C (p.Ser2856=)
c.6771T>C (p.Ser2257=)
ClinVar dbSNP gnomAD v2 gnomAD v4
6g.7585830T>GCA448531305DSPc.7239T>G (p.Ser2413=)
c.8568T>G (p.Ser2856=)
c.6771T>G (p.Ser2257=)
6g.7585830T=CA1608616128DSPc.7239T= (p.Ser2413=)
c.8568T= (p.Ser2856=)
c.6771T= (p.Ser2257=)
6g.7585839_7585850delCA2573140826DSPc.7248_7259del (p.Tyr2417_Ser2420del)
c.8577_8588del (p.Tyr2860_Ser2863del)
c.6780_6791del (p.Tyr2261_Ser2264del)
ClinVar dbSNP gnomAD v4
6g.7585831T>ACA362695396DSPc.7240T>A (p.Ser2414Thr)
c.8569T>A (p.Ser2857Thr)
c.6772T>A (p.Ser2258Thr)
6g.7585831T>CCA362695397DSPc.7240T>C (p.Ser2414Pro)
c.8569T>C (p.Ser2857Pro)
c.6772T>C (p.Ser2258Pro)
6g.7585831T>GCA362695398DSPc.7240T>G (p.Ser2414Ala)
c.8569T>G (p.Ser2857Ala)
c.6772T>G (p.Ser2258Ala)
6g.7585832C>ACA052803DSPc.7241C>A (p.Ser2414Tyr)
c.8570C>A (p.Ser2857Tyr)
c.6773C>A (p.Ser2258Tyr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7585832C=CA1608616143DSPc.7241C= (p.Ser2414=)
c.8570C= (p.Ser2857=)
c.6773C= (p.Ser2258=)
6g.7585832C>GCA362695399DSPc.7241C>G (p.Ser2414Cys)
c.8570C>G (p.Ser2857Cys)
c.6773C>G (p.Ser2258Cys)
6g.7585832C>TCA362695400DSPc.7241C>T (p.Ser2414Phe)
c.8570C>T (p.Ser2857Phe)
c.6773C>T (p.Ser2258Phe)
6g.7585833C>ACA448531308DSPc.7242C>A (p.Ser2414=)
c.8571C>A (p.Ser2857=)
c.6774C>A (p.Ser2258=)
6g.7585833C>GCA448531307DSPc.7242C>G (p.Ser2414=)
c.8571C>G (p.Ser2857=)
c.6774C>G (p.Ser2258=)
6g.7585833C>TCA448531306DSPc.7242C>T (p.Ser2414=)
c.8571C>T (p.Ser2857=)
c.6774C>T (p.Ser2258=)
6g.7585834T>ACA362695401DSPc.7243T>A (p.Tyr2415Asn)
c.8572T>A (p.Tyr2858Asn)
c.6775T>A (p.Tyr2259Asn)
6g.7585834T>CCA362695402DSPc.7243T>C (p.Tyr2415His)
c.8572T>C (p.Tyr2858His)
c.6775T>C (p.Tyr2259His)
6g.7585834T>GCA362695403DSPc.7243T>G (p.Tyr2415Asp)
c.8572T>G (p.Tyr2858Asp)
c.6775T>G (p.Tyr2259Asp)
6g.7585835A=CA1608616160DSPc.7244A= (p.Tyr2415=)
c.8573A= (p.Tyr2858=)
c.6776A= (p.Tyr2259=)
6g.7585835A>CCA362695404DSPc.7244A>C (p.Tyr2415Ser)
c.8573A>C (p.Tyr2858Ser)
c.6776A>C (p.Tyr2259Ser)
6g.7585835A>GCA362695405DSPc.7244A>G (p.Tyr2415Cys)
c.8573A>G (p.Tyr2858Cys)
c.6776A>G (p.Tyr2259Cys)
ClinVar dbSNP gnomAD v4
6g.7585835A>TCA362695406DSPc.7244A>T (p.Tyr2415Phe)
c.8573A>T (p.Tyr2858Phe)
c.6776A>T (p.Tyr2259Phe)
6g.7585835_7585837delinsACTCA1608616152DSPc.7244_7246delinsACT (p.Tyr2415=)
c.8573_8575delinsACT (p.Tyr2858=)
c.6776_6778delinsACT (p.Tyr2259=)
6g.7585836C>ACA362695407DSPc.7245C>A (p.Tyr2415Ter)
c.8574C>A (p.Tyr2858Ter)
c.6777C>A (p.Tyr2259Ter)
6g.7585836C>GCA362695408DSPc.7245C>G (p.Tyr2415Ter)
c.8574C>G (p.Tyr2858Ter)
c.6777C>G (p.Tyr2259Ter)
6g.7585836C>TCA448531309DSPc.7245C>T (p.Tyr2415=)
c.8574C>T (p.Tyr2858=)
c.6777C>T (p.Tyr2259=)
6g.7585838_7585839delCA007739DSPc.7247_7248del (p.Ser2416LeufsTer6)
c.8576_8577del (p.Ser2859LeufsTer6)
c.6779_6780del (p.Ser2260LeufsTer6)
ClinVar dbSNP
6g.7585837T>ACA362695411DSPc.7246T>A (p.Ser2416Thr)
c.8575T>A (p.Ser2859Thr)
c.6778T>A (p.Ser2260Thr)
6g.7585837T>CCA362695409DSPc.7246T>C (p.Ser2416Pro)
c.8575T>C (p.Ser2859Pro)
c.6778T>C (p.Ser2260Pro)
6g.7585837T>GCA362695410DSPc.7246T>G (p.Ser2416Ala)
c.8575T>G (p.Ser2859Ala)
c.6778T>G (p.Ser2260Ala)
6g.7585838C>ACA362695412DSPc.7247C>A (p.Ser2416Tyr)
c.8576C>A (p.Ser2859Tyr)
c.6779C>A (p.Ser2260Tyr)
6g.7585838C=CA1608616170DSPc.7247C= (p.Ser2416=)
c.8576C= (p.Ser2859=)
c.6779C= (p.Ser2260=)
6g.7585838C>GCA133978378DSPc.7247C>G (p.Ser2416Cys)
c.8576C>G (p.Ser2859Cys)
c.6779C>G (p.Ser2260Cys)
dbSNP gnomAD v4
6g.7585838C>TCA362695413DSPc.7247C>T (p.Ser2416Phe)
c.8576C>T (p.Ser2859Phe)
c.6779C>T (p.Ser2260Phe)
6g.7585839T>ACA448531310DSPc.7248T>A (p.Ser2416=)
c.8577T>A (p.Ser2859=)
c.6780T>A (p.Ser2260=)
6g.7585839T>CCA448531312DSPc.7248T>C (p.Ser2416=)
c.8577T>C (p.Ser2859=)
c.6780T>C (p.Ser2260=)
6g.7585839T>GCA448531311DSPc.7248T>G (p.Ser2416=)
c.8577T>G (p.Ser2859=)
c.6780T>G (p.Ser2260=)
dbSNP gnomAD v2 gnomAD v4
6g.7585839T=CA1608616178DSPc.7248T= (p.Ser2416=)
c.8577T= (p.Ser2859=)
c.6780T= (p.Ser2260=)
6g.7585840T>ACA362695414DSPc.7249T>A (p.Tyr2417Asn)
c.8578T>A (p.Tyr2860Asn)
c.6781T>A (p.Tyr2261Asn)
6g.7585840T>CCA362695415DSPc.7249T>C (p.Tyr2417His)
c.8578T>C (p.Tyr2860His)
c.6781T>C (p.Tyr2261His)
6g.7585840T>GCA362695416DSPc.7249T>G (p.Tyr2417Asp)
c.8578T>G (p.Tyr2860Asp)
c.6781T>G (p.Tyr2261Asp)
6g.7585841A>CCA362695417DSPc.7250A>C (p.Tyr2417Ser)
c.8579A>C (p.Tyr2860Ser)
c.6782A>C (p.Tyr2261Ser)
6g.7585841A>GCA362695418DSPc.7250A>G (p.Tyr2417Cys)
c.8579A>G (p.Tyr2860Cys)
c.6782A>G (p.Tyr2261Cys)
ClinVar
6g.7585841A>TCA362695419DSPc.7250A>T (p.Tyr2417Phe)
c.8579A>T (p.Tyr2860Phe)
c.6782A>T (p.Tyr2261Phe)
6g.7585844_7585853delCA2516181884DSPc.7253_7262del (p.Ser2418LeufsTer19)
c.8582_8591del (p.Ser2861LeufsTer19)
c.6785_6794del (p.Ser2262LeufsTer19)
ClinVar
6g.7585842T>ACA362695421DSPc.7251T>A (p.Tyr2417Ter)
c.8580T>A (p.Tyr2860Ter)
c.6783T>A (p.Tyr2261Ter)
6g.7585842T>CCA052814DSPc.7251T>C (p.Tyr2417=)
c.8580T>C (p.Tyr2860=)
c.6783T>C (p.Tyr2261=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7585842T>GCA362695420DSPc.7251T>G (p.Tyr2417Ter)
c.8580T>G (p.Tyr2860Ter)
c.6783T>G (p.Tyr2261Ter)
6g.7585842T=CA1608616190DSPc.7251T= (p.Tyr2417=)
c.8580T= (p.Tyr2860=)
c.6783T= (p.Tyr2261=)
6g.7585843T>ACA362695422DSPc.7252T>A (p.Ser2418Thr)
c.8581T>A (p.Ser2861Thr)
c.6784T>A (p.Ser2262Thr)
6g.7585843T>CCA362695423DSPc.7252T>C (p.Ser2418Pro)
c.8581T>C (p.Ser2861Pro)
c.6784T>C (p.Ser2262Pro)
6g.7585843T>GCA362695424DSPc.7252T>G (p.Ser2418Ala)
c.8581T>G (p.Ser2861Ala)
c.6784T>G (p.Ser2262Ala)
6g.7585843_7585844delinsTCCA1608616199DSPc.7252_7253delinsTC (p.Ser2418=)
c.8581_8582delinsTC (p.Ser2861=)
c.6784_6785delinsTC (p.Ser2262=)
6g.7585844C>ACA362695425DSPc.7253C>A (p.Ser2418Tyr)
c.8582C>A (p.Ser2861Tyr)
c.6785C>A (p.Ser2262Tyr)
gnomAD v4 COSMIC
6g.7585844C=CA1608616204DSPc.7253C= (p.Ser2418=)
c.8582C= (p.Ser2861=)
c.6785C= (p.Ser2262=)
6g.7585844C>GCA362695426DSPc.7253C>G (p.Ser2418Cys)
c.8582C>G (p.Ser2861Cys)
c.6785C>G (p.Ser2262Cys)
gnomAD v4
6g.7585844C>TCA362695427DSPc.7253C>T (p.Ser2418Phe)
c.8582C>T (p.Ser2861Phe)
c.6785C>T (p.Ser2262Phe)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
6g.7585845delCA052825DSPc.7254del (p.Tyr2419ThrfsTer21)
c.8583del (p.Tyr2862ThrfsTer21)
c.6786del (p.Tyr2263ThrfsTer21)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.7585845C>ACA448531313DSPc.7254C>A (p.Ser2418=)
c.8583C>A (p.Ser2861=)
c.6786C>A (p.Ser2262=)
6g.7585845C=CA1608616213DSPc.7254C= (p.Ser2418=)
c.8583C= (p.Ser2861=)
c.6786C= (p.Ser2262=)
6g.7585845C>GCA448531314DSPc.7254C>G (p.Ser2418=)
c.8583C>G (p.Ser2861=)
c.6786C>G (p.Ser2262=)
6g.7585845C>TCA052840DSPc.7254C>T (p.Ser2418=)
c.8583C>T (p.Ser2861=)
c.6786C>T (p.Ser2262=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7585846T>ACA362695428DSPc.7255T>A (p.Tyr2419Asn)
c.8584T>A (p.Tyr2862Asn)
c.6787T>A (p.Tyr2263Asn)
6g.7585846T>CCA362695429DSPc.7255T>C (p.Tyr2419His)
c.8584T>C (p.Tyr2862His)
c.6787T>C (p.Tyr2263His)
6g.7585846T>GCA362695430DSPc.7255T>G (p.Tyr2419Asp)
c.8584T>G (p.Tyr2862Asp)
c.6787T>G (p.Tyr2263Asp)
6g.7585847A>CCA362695433DSPc.7256A>C (p.Tyr2419Ser)
c.8585A>C (p.Tyr2862Ser)
c.6788A>C (p.Tyr2263Ser)
6g.7585847A>GCA362695432DSPc.7256A>G (p.Tyr2419Cys)
c.8585A>G (p.Tyr2862Cys)
c.6788A>G (p.Tyr2263Cys)
6g.7585847A>TCA362695431DSPc.7256A>T (p.Tyr2419Phe)
c.8585A>T (p.Tyr2862Phe)
c.6788A>T (p.Tyr2263Phe)
6g.7585848delCA2695206021DSPc.7257del (p.Ser2420HisfsTer20)
c.8586del (p.Ser2863HisfsTer20)
c.6789del (p.Ser2264HisfsTer20)
6g.7585848C>ACA362695435DSPc.7257C>A (p.Tyr2419Ter)
c.8586C>A (p.Tyr2862Ter)
c.6789C>A (p.Tyr2263Ter)
6g.7585848C>GCA362695434DSPc.7257C>G (p.Tyr2419Ter)
c.8586C>G (p.Tyr2862Ter)
c.6789C>G (p.Tyr2263Ter)
6g.7585848C>TCA448531315DSPc.7257C>T (p.Tyr2419=)
c.8586C>T (p.Tyr2862=)
c.6789C>T (p.Tyr2263=)
ClinVar gnomAD v4
6g.7585849T>ACA362695438DSPc.7258T>A (p.Ser2420Thr)
c.8587T>A (p.Ser2863Thr)
c.6790T>A (p.Ser2264Thr)
6g.7585849T>CCA362695436DSPc.7258T>C (p.Ser2420Pro)
c.8587T>C (p.Ser2863Pro)
c.6790T>C (p.Ser2264Pro)
gnomAD v4
6g.7585849T>GCA362695437DSPc.7258T>G (p.Ser2420Ala)
c.8587T>G (p.Ser2863Ala)
c.6790T>G (p.Ser2264Ala)
6g.7585850C>ACA362695439DSPc.7259C>A (p.Ser2420Ter)
c.8588C>A (p.Ser2863Ter)
c.6791C>A (p.Ser2264Ter)
6g.7585850C=CA1608616219DSPc.7259C= (p.Ser2420=)
c.8588C= (p.Ser2863=)
c.6791C= (p.Ser2264=)
6g.7585850C>GCA362695440DSPc.7259C>G (p.Ser2420Ter)
c.8588C>G (p.Ser2863Ter)
c.6791C>G (p.Ser2264Ter)
6g.7585850C>TCA362695441DSPc.7259C>T (p.Ser2420Leu)
c.8588C>T (p.Ser2863Leu)
c.6791C>T (p.Ser2264Leu)
ClinVar dbSNP gnomAD v4
6g.7585851A>CCA448531316DSPc.7260A>C (p.Ser2420=)
c.8589A>C (p.Ser2863=)
c.6792A>C (p.Ser2264=)
6g.7585851A>GCA448531317DSPc.7260A>G (p.Ser2420=)
c.8589A>G (p.Ser2863=)
c.6792A>G (p.Ser2264=)
6g.7585851A>TCA448531318DSPc.7260A>T (p.Ser2420=)
c.8589A>T (p.Ser2863=)
c.6792A>T (p.Ser2264=)
6g.7585852T>ACA362695442DSPc.7261T>A (p.Phe2421Ile)
c.8590T>A (p.Phe2864Ile)
c.6793T>A (p.Phe2265Ile)
6g.7585852T>CCA052847DSPc.7261T>C (p.Phe2421Leu)
c.8590T>C (p.Phe2864Leu)
c.6793T>C (p.Phe2265Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7585852T>GCA362695443DSPc.7261T>G (p.Phe2421Val)
c.8590T>G (p.Phe2864Val)
c.6793T>G (p.Phe2265Val)
6g.7585852T=CA1608616225DSPc.7261T= (p.Phe2421=)
c.8590T= (p.Phe2864=)
c.6793T= (p.Phe2265=)
6g.7585853T>ACA362695444DSPc.7262T>A (p.Phe2421Tyr)
c.8591T>A (p.Phe2864Tyr)
c.6794T>A (p.Phe2265Tyr)
ClinVar dbSNP gnomAD v4
6g.7585853T>CCA362695445DSPc.7262T>C (p.Phe2421Ser)
c.8591T>C (p.Phe2864Ser)
c.6794T>C (p.Phe2265Ser)
6g.7585853T>GCA362695446DSPc.7262T>G (p.Phe2421Cys)
c.8591T>G (p.Phe2864Cys)
c.6794T>G (p.Phe2265Cys)
6g.7585853T=CA1608616228DSPc.7262T= (p.Phe2421=)
c.8591T= (p.Phe2864=)
c.6794T= (p.Phe2265=)
6g.7585854T>ACA362695447DSPc.7263T>A (p.Phe2421Leu)
c.8592T>A (p.Phe2864Leu)
c.6795T>A (p.Phe2265Leu)
6g.7585854T>CCA448531319DSPc.7263T>C (p.Phe2421=)
c.8592T>C (p.Phe2864=)
c.6795T>C (p.Phe2265=)
dbSNP gnomAD v2 gnomAD v4
6g.7585854T>GCA362695448DSPc.7263T>G (p.Phe2421Leu)
c.8592T>G (p.Phe2864Leu)
c.6795T>G (p.Phe2265Leu)
6g.7585854T=CA1608616232DSPc.7263T= (p.Phe2421=)
c.8592T= (p.Phe2864=)
c.6795T= (p.Phe2265=)
6g.7585855A>CCA362695449DSPc.7264A>C (p.Ser2422Arg)
c.8593A>C (p.Ser2865Arg)
c.6796A>C (p.Ser2266Arg)
6g.7585855A>GCA362695451DSPc.7264A>G (p.Ser2422Gly)
c.8593A>G (p.Ser2865Gly)
c.6796A>G (p.Ser2266Gly)
6g.7585855A>TCA362695450DSPc.7264A>T (p.Ser2422Cys)
c.8593A>T (p.Ser2865Cys)
c.6796A>T (p.Ser2266Cys)
6g.7585856G>ACA362695452DSPc.7265G>A (p.Ser2422Asn)
c.8594G>A (p.Ser2865Asn)
c.6797G>A (p.Ser2266Asn)
6g.7585856G>CCA362695453DSPc.7265G>C (p.Ser2422Thr)
c.8594G>C (p.Ser2865Thr)
c.6797G>C (p.Ser2266Thr)
6g.7585856G>TCA362695454DSPc.7265G>T (p.Ser2422Ile)
c.8594G>T (p.Ser2865Ile)
c.6797G>T (p.Ser2266Ile)
6g.7585857C>ACA362695455DSPc.7266C>A (p.Ser2422Arg)
c.8595C>A (p.Ser2865Arg)
c.6798C>A (p.Ser2266Arg)
6g.7585857C=CA1608616236DSPc.7266C= (p.Ser2422=)
c.8595C= (p.Ser2865=)
c.6798C= (p.Ser2266=)
6g.7585857C>GCA362695456DSPc.7266C>G (p.Ser2422Arg)
c.8595C>G (p.Ser2865Arg)
c.6798C>G (p.Ser2266Arg)
dbSNP gnomAD v4
6g.7585857C>TCA448531320DSPc.7266C>T (p.Ser2422=)
c.8595C>T (p.Ser2865=)
c.6798C>T (p.Ser2266=)
gnomAD v3 gnomAD v4
6g.7585857_7585860delinsCAGTCA1608616235DSPc.7266_7269delinsCAGT (p.Ser2422=)
c.8595_8598delinsCAGT (p.Ser2865=)
c.6798_6801delinsCAGT (p.Ser2266=)
6g.7585858A>CCA362695457DSPc.7267A>C (p.Ser2423Arg)
c.8596A>C (p.Ser2866Arg)
c.6799A>C (p.Ser2267Arg)
6g.7585858A>GCA362695458DSPc.7267A>G (p.Ser2423Gly)
c.8596A>G (p.Ser2866Gly)
c.6799A>G (p.Ser2267Gly)
6g.7585858A>TCA362695459DSPc.7267A>T (p.Ser2423Cys)
c.8596A>T (p.Ser2866Cys)
c.6799A>T (p.Ser2267Cys)
gnomAD v4
6g.7585861_7585863delCA828147543DSPc.7270_7272del (p.Ser2424del)
c.8599_8601del (p.Ser2867del)
c.6802_6804del (p.Ser2268del)
ClinVar dbSNP
6g.7585859G>ACA362695460DSPc.7268G>A (p.Ser2423Asn)
c.8597G>A (p.Ser2866Asn)
c.6800G>A (p.Ser2267Asn)
6g.7585859G>CCA362695461DSPc.7268G>C (p.Ser2423Thr)
c.8597G>C (p.Ser2866Thr)
c.6800G>C (p.Ser2267Thr)
6g.7585859G>TCA362695462DSPc.7268G>T (p.Ser2423Ile)
c.8597G>T (p.Ser2866Ile)
c.6800G>T (p.Ser2267Ile)
6g.7585860T>ACA362695464DSPc.7269T>A (p.Ser2423Arg)
c.8598T>A (p.Ser2866Arg)
c.6801T>A (p.Ser2267Arg)
6g.7585860T>CCA133978395DSPc.7269T>C (p.Ser2423=)
c.8598T>C (p.Ser2866=)
c.6801T>C (p.Ser2267=)
ClinVar dbSNP gnomAD v4
6g.7585860T>GCA362695463DSPc.7269T>G (p.Ser2423Arg)
c.8598T>G (p.Ser2866Arg)
c.6801T>G (p.Ser2267Arg)
6g.7585860T=CA1608616243DSPc.7269T= (p.Ser2423=)
c.8598T= (p.Ser2866=)
c.6801T= (p.Ser2267=)
6g.7585861A>CCA362695465DSPc.7270A>C (p.Ser2424Arg)
c.8599A>C (p.Ser2867Arg)
c.6802A>C (p.Ser2268Arg)
6g.7585861A>GCA362695467DSPc.7270A>G (p.Ser2424Gly)
c.8599A>G (p.Ser2867Gly)
c.6802A>G (p.Ser2268Gly)
6g.7585861A>TCA362695466DSPc.7270A>T (p.Ser2424Cys)
c.8599A>T (p.Ser2867Cys)
c.6802A>T (p.Ser2268Cys)
6g.7585862G>ACA362695468DSPc.7271G>A (p.Ser2424Asn)
c.8600G>A (p.Ser2867Asn)
c.6803G>A (p.Ser2268Asn)
6g.7585862G>CCA362695469DSPc.7271G>C (p.Ser2424Thr)
c.8600G>C (p.Ser2867Thr)
c.6803G>C (p.Ser2268Thr)
6g.7585862G>TCA362695470DSPc.7271G>T (p.Ser2424Ile)
c.8600G>T (p.Ser2867Ile)
c.6803G>T (p.Ser2268Ile)
gnomAD v4
6g.7585863T>ACA362695471DSPc.7272T>A (p.Ser2424Arg)
c.8601T>A (p.Ser2867Arg)
c.6804T>A (p.Ser2268Arg)
6g.7585863T>CCA448531321DSPc.7272T>C (p.Ser2424=)
c.8601T>C (p.Ser2867=)
c.6804T>C (p.Ser2268=)
ClinVar dbSNP gnomAD v2
6g.7585863T>GCA362695472DSPc.7272T>G (p.Ser2424Arg)
c.8601T>G (p.Ser2867Arg)
c.6804T>G (p.Ser2268Arg)
6g.7585863T=CA1608616252DSPc.7272T= (p.Ser2424=)
c.8601T= (p.Ser2867=)
c.6804T= (p.Ser2268=)
6g.7585864T>ACA362695473DSPc.7273T>A (p.Ser2425Thr)
c.8602T>A (p.Ser2868Thr)
c.6805T>A (p.Ser2269Thr)
ClinVar dbSNP gnomAD v4
6g.7585864T>CCA362695474DSPc.7273T>C (p.Ser2425Pro)
c.8602T>C (p.Ser2868Pro)
c.6805T>C (p.Ser2269Pro)
6g.7585864T>GCA362695475DSPc.7273T>G (p.Ser2425Ala)
c.8602T>G (p.Ser2868Ala)
c.6805T>G (p.Ser2269Ala)
6g.7585864T=CA1608616254DSPc.7273T= (p.Ser2425=)
c.8602T= (p.Ser2868=)
c.6805T= (p.Ser2269=)
6g.7585865C>ACA362695476DSPc.7274C>A (p.Ser2425Tyr)
c.8603C>A (p.Ser2868Tyr)
c.6806C>A (p.Ser2269Tyr)
dbSNP
6g.7585865C=CA1608616260DSPc.7274C= (p.Ser2425=)
c.8603C= (p.Ser2868=)
c.6806C= (p.Ser2269=)
6g.7585865C>GCA362695477DSPc.7274C>G (p.Ser2425Cys)
c.8603C>G (p.Ser2868Cys)
c.6806C>G (p.Ser2269Cys)
6g.7585865C>TCA362695478DSPc.7274C>T (p.Ser2425Phe)
c.8603C>T (p.Ser2868Phe)
c.6806C>T (p.Ser2269Phe)
gnomAD v4
6g.7585866T>ACA448531322DSPc.7275T>A (p.Ser2425=)
c.8604T>A (p.Ser2868=)
c.6807T>A (p.Ser2269=)
6g.7585866T>CCA448531323DSPc.7275T>C (p.Ser2425=)
c.8604T>C (p.Ser2868=)
c.6807T>C (p.Ser2269=)
6g.7585866T>GCA448531324DSPc.7275T>G (p.Ser2425=)
c.8604T>G (p.Ser2868=)
c.6807T>G (p.Ser2269=)
6g.7585867A=CA1608616268DSPc.7276A= (p.Ile2426=)
c.8605A= (p.Ile2869=)
c.6808A= (p.Ile2270=)
6g.7585867A>CCA362695480DSPc.7276A>C (p.Ile2426Leu)
c.8605A>C (p.Ile2869Leu)
c.6808A>C (p.Ile2270Leu)
gnomAD v4
6g.7585867A>GCA007748DSPc.7276A>G (p.Ile2426Val)
c.8605A>G (p.Ile2869Val)
c.6808A>G (p.Ile2270Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7585867A>TCA362695479DSPc.7276A>T (p.Ile2426Phe)
c.8605A>T (p.Ile2869Phe)
c.6808A>T (p.Ile2270Phe)
ClinVar
6g.7585868T>ACA362695481DSPc.7277T>A (p.Ile2426Asn)
c.8606T>A (p.Ile2869Asn)
c.6809T>A (p.Ile2270Asn)
6g.7585868T>CCA362695482DSPc.7277T>C (p.Ile2426Thr)
c.8606T>C (p.Ile2869Thr)
c.6809T>C (p.Ile2270Thr)
ClinVar dbSNP gnomAD v3 gnomAD v4
6g.7585868T>GCA362695483DSPc.7277T>G (p.Ile2426Ser)
c.8606T>G (p.Ile2869Ser)
c.6809T>G (p.Ile2270Ser)
6g.7585868T=CA1608616274DSPc.7277T= (p.Ile2426=)
c.8606T= (p.Ile2869=)
c.6809T= (p.Ile2270=)
6g.7585869T>ACA448531325DSPc.7278T>A (p.Ile2426=)
c.8607T>A (p.Ile2869=)
c.6810T>A (p.Ile2270=)
6g.7585869T>CCA448531326DSPc.7278T>C (p.Ile2426=)
c.8607T>C (p.Ile2869=)
c.6810T>C (p.Ile2270=)
6g.7585869T>GCA362695484DSPc.7278T>G (p.Ile2426Met)
c.8607T>G (p.Ile2869Met)
c.6810T>G (p.Ile2270Met)
6g.7585870G>ACA362695485DSPc.7279G>A (p.Gly2427Arg)
c.8608G>A (p.Gly2870Arg)
c.6811G>A (p.Gly2271Arg)
ClinVar dbSNP gnomAD v2 gnomAD v4
6g.7585870G>CCA362695486DSPc.7279G>C (p.Gly2427Arg)
c.8608G>C (p.Gly2870Arg)
c.6811G>C (p.Gly2271Arg)
6g.7585870G=CA1608616278DSPc.7279G= (p.Gly2427=)
c.8608G= (p.Gly2870=)
c.6811G= (p.Gly2271=)
6g.7585870G>TCA362695487DSPc.7279G>T (p.Gly2427Trp)
c.8608G>T (p.Gly2870Trp)
c.6811G>T (p.Gly2271Trp)
6g.7585871G>ACA362695488DSPc.7280G>A (p.Gly2427Glu)
c.8609G>A (p.Gly2870Glu)
c.6812G>A (p.Gly2271Glu)
COSMIC
6g.7585871G>CCA362695489DSPc.7280G>C (p.Gly2427Ala)
c.8609G>C (p.Gly2870Ala)
c.6812G>C (p.Gly2271Ala)
6g.7585871G>TCA362695490DSPc.7280G>T (p.Gly2427Val)
c.8609G>T (p.Gly2870Val)
c.6812G>T (p.Gly2271Val)
6g.7585872G>ACA133978444DSPc.7281G>A (p.Gly2427=)
c.8610G>A (p.Gly2870=)
c.6813G>A (p.Gly2271=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.7585872G>CCA448531328DSPc.7281G>C (p.Gly2427=)
c.8610G>C (p.Gly2870=)
c.6813G>C (p.Gly2271=)
6g.7585872G=CA1608616290DSPc.7281G= (p.Gly2427=)
c.8610G= (p.Gly2870=)
c.6813G= (p.Gly2271=)
6g.7585872G>TCA448531329DSPc.7281G>T (p.Gly2427=)
c.8610G>T (p.Gly2870=)
c.6813G>T (p.Gly2271=)
6g.7585873C>ACA362695491DSPc.7282C>A (p.His2428Asn)
c.8611C>A (p.His2871Asn)
c.6814C>A (p.His2272Asn)
6g.7585873C>GCA362695492DSPc.7282C>G (p.His2428Asp)
c.8611C>G (p.His2871Asp)
c.6814C>G (p.His2272Asp)
6g.7585873C>TCA362695493DSPc.7282C>T (p.His2428Tyr)
c.8611C>T (p.His2871Tyr)
c.6814C>T (p.His2272Tyr)
ClinVar
6g.7585874A=CA1608616297DSPc.7283A= (p.His2428=)
c.8612A= (p.His2871=)
c.6815A= (p.His2272=)
6g.7585874A>CCA362695495DSPc.7283A>C (p.His2428Pro)
c.8612A>C (p.His2871Pro)
c.6815A>C (p.His2272Pro)
6g.7585874A>GCA362695496DSPc.7283A>G (p.His2428Arg)
c.8612A>G (p.His2871Arg)
c.6815A>G (p.His2272Arg)
6g.7585874A>TCA362695494DSPc.7283A>T (p.His2428Leu)
c.8612A>T (p.His2871Leu)
c.6815A>T (p.His2272Leu)
dbSNP
6g.7585875C>ACA362695497DSPc.7284C>A (p.His2428Gln)
c.8613C>A (p.His2871Gln)
c.6816C>A (p.His2272Gln)
6g.7585875C>GCA362695498DSPc.7284C>G (p.His2428Gln)
c.8613C>G (p.His2871Gln)
c.6816C>G (p.His2272Gln)
COSMIC
6g.7585875C>TCA448531330DSPc.7284C>T (p.His2428=)
c.8613C>T (p.His2871=)
c.6816C>T (p.His2272=)
6g.7585876T>ACA362695499DSPc.7285T>A (p.Ter2429Lys)
c.8614T>A (p.Ter2872Lys)
c.6817T>A (p.Ter2273Lys)
6g.7585876T>CCA362695501DSPc.7285T>C (p.Ter2429Gln)
c.8614T>C (p.Ter2872Gln)
c.6817T>C (p.Ter2273Gln)
6g.7585876T>GCA362695500DSPc.7285T>G (p.Ter2429Glu)
c.8614T>G (p.Ter2872Glu)
c.6817T>G (p.Ter2273Glu)
6g.7585877A>CCA362695502DSPc.7286A>C (p.Ter2429Ser)
c.8615A>C (p.Ter2872Ser)
c.6818A>C (p.Ter2273Ser)
6g.7585877A>GCA362695503DSPc.7286A>G (p.Ter2429Trp)
c.8615A>G (p.Ter2872Trp)
c.6818A>G (p.Ter2273Trp)
gnomAD v4
6g.7585877A>TCA362695504DSPc.7286A>T (p.Ter2429Leu)
c.8615A>T (p.Ter2872Leu)
c.6818A>T (p.Ter2273Leu)
6g.7585878G>ACA448531331DSPc.7287G>A (p.Ter2429=)
c.8616G>A (p.Ter2872=)
c.6819G>A (p.Ter2273=)
dbSNP gnomAD v4
6g.7585878G>CCA362695505DSPc.7287G>C (p.Ter2429Tyr)
c.8616G>C (p.Ter2872Tyr)
c.6819G>C (p.Ter2273Tyr)
6g.7585878G=CA1608616309DSPc.7287G= (p.Ter2429=)
c.8616G= (p.Ter2872=)
c.6819G= (p.Ter2273=)
6g.7585878G>TCA362695506DSPc.7287G>T (p.Ter2429Tyr)
c.8616G>T (p.Ter2872Tyr)
c.6819G>T (p.Ter2273Tyr)
6g.7585879T>CCA1085707386DSPc.*1T>C (n.*1T>C)
dbSNP
6g.7585879T=CA1608616314DSPc.*1T= (n.*1T=)
6g.7585879_7585883delinsTAGTCCA1608616313DSPc.*1_*5delinsTAGTC (n.*1_*5delinsTAGTC)
6g.7585880A=CA1608616317DSPc.*2A= (n.*2A=)
6g.7585880A>GCA2677222505DSPc.*2A>G (n.*2A>G)
ClinVar gnomAD v4
6g.7585880A>TCA133978495DSPc.*2A>T (n.*2A>T)
dbSNP
6g.7585883_7585886delCA1085707389DSPc.*5_*8del (n.*5_*8del)
dbSNP gnomAD v3 gnomAD v4
6g.7585881G>ACA2677222509DSPc.*3G>A (n.*3G>A)
gnomAD v4
6g.7585882T>GCA2677222512DSPc.*4T>G (n.*4T>G)
gnomAD v4
6g.7585883_7585884dupCA2825001492DSPc.*5_*6dup (n.*5_*6dup)
ClinVar
6g.7585887T>ACA007916DSPc.*9T>A (n.*9T>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7585887T>CCA2581539034DSPc.*9T>C (n.*9T>C)
6g.7585887T>GCA2581539033DSPc.*9T>G (n.*9T>G)
6g.7585887T=CA1608616325DSPc.*9T= (n.*9T=)
6g.7585889G>ACA828147613DSPc.*11G>A (n.*11G>A)
dbSNP
6g.7585889G=CA1608616327DSPc.*11G= (n.*11G=)
6g.7585891A>GCA2677222518DSPc.*13A>G (n.*13A>G)
gnomAD v4
6g.7585892G>ACA828147614DSPc.*14G>A (n.*14G>A)
dbSNP gnomAD v3 gnomAD v4
6g.7585892G=CA1608616330DSPc.*14G= (n.*14G=)
6g.7585893T>CCA565105986DSPc.*15T>C (n.*15T>C)
dbSNP gnomAD v2 gnomAD v4
6g.7585893T=CA1608616334DSPc.*15T= (n.*15T=)
6g.7585894G=CA1608616340DSPc.*16G= (n.*16G=)
6g.7585894G>TCA029339DSPc.*16G>T (n.*16G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.7585896T>CCA133978530DSPc.*18T>C (n.*18T>C)
dbSNP gnomAD v4
6g.7585896T=CA1608616344DSPc.*18T= (n.*18T=)
6g.7585898G>CCA133978531DSPc.*20G>C (n.*20G>C)
dbSNP gnomAD v4
6g.7585898G=CA1608616347DSPc.*20G= (n.*20G=)
6g.7585899C=CA1608616353DSPc.*21C= (n.*21C=)
6g.7585899C>GCA032189DSPc.*21C>G (n.*21C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.7585899C>TCA1608616355DSPc.*21C>T (n.*21C>T)
dbSNP
6g.7585901A=CA1608616357DSPc.*23A= (n.*23A=)
6g.7585901A>GCA565105988DSPc.*23A>G (n.*23A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.7585902T>CCA2677222541DSPc.*24T>C (n.*24T>C)
gnomAD v4
6g.7585903A=CA1608616359DSPc.*25A= (n.*25A=)
6g.7585903A>TCA828147623DSPc.*25A>T (n.*25A>T)
dbSNP gnomAD v3 gnomAD v4
6g.7585904C>ACA828147627DSPc.*26C>A (n.*26C>A)
dbSNP gnomAD v4
6g.7585904C=CA1608616362DSPc.*26C= (n.*26C=)
6g.7585904C>TCA133978534DSPc.*26C>T (n.*26C>T)
dbSNP gnomAD v4
6g.7585905C>GCA2769904237DSPc.*27C>G (n.*27C>G)
6g.7585908_7585912delCA2677222549DSPc.*30_*34del (n.*30_*34del)
gnomAD v4
6g.7585908G>TCA2677222550DSPc.*30G>T (n.*30G>T)
gnomAD v4
6g.7585910C>ACA2677222551DSPc.*32C>A (n.*32C>A)
gnomAD v4
6g.7585910C>GCA2677222552DSPc.*32C>G (n.*32C>G)
gnomAD v4
6g.7585912T>CCA1608616373DSPc.*34T>C (n.*34T>C)
dbSNP gnomAD v4
6g.7585912T=CA1608616368DSPc.*34T= (n.*34T=)
6g.7585913C>ACA2677222554DSPc.*35C>A (n.*35C>A)
gnomAD v4
6g.7585914A>GCA2677222555DSPc.*36A>G (n.*36A>G)
gnomAD v4
6g.7585916T>ACA2677222556DSPc.*38T>A (n.*38T>A)
gnomAD v4
6g.7585917T>CCA039761DSPc.*39T>C (n.*39T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.7585917T=CA1608616380DSPc.*39T= (n.*39T=)
6g.7585918A=CA1608616383DSPc.*40A= (n.*40A=)
6g.7585918A>GCA1608616386DSPc.*40A>G (n.*40A>G)
dbSNP gnomAD v4

Number of alleles fetched