Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.15644622A=CA1347664117BTDc.706A= (p.Arg236=)
c.399+2565A= (n.399+2565A=)
c.165+2565A= (n.165+2565A=)
c.766A= (p.Arg256=)
c.772A= (p.Arg258=)
c.484A= (p.Arg162=)
c.*2484A= (n.*2484A=)
3g.15644622A>CCA432819309BTDc.706A>C (p.Arg236=)
c.399+2565A>C (n.399+2565A>C)
c.165+2565A>C (n.165+2565A>C)
c.766A>C (p.Arg256=)
c.772A>C (p.Arg258=)
c.484A>C (p.Arg162=)
c.*2484A>C (n.*2484A>C)
3g.15644622A>GCA351607145BTDc.706A>G (p.Arg236Gly)
c.399+2565A>G (n.399+2565A>G)
c.165+2565A>G (n.165+2565A>G)
c.766A>G (p.Arg256Gly)
c.772A>G (p.Arg258Gly)
c.484A>G (p.Arg162Gly)
c.*2484A>G (n.*2484A>G)
dbSNP gnomAD v2
3g.15644622A>TCA351607147BTDc.706A>T (p.Arg236Ter)
c.399+2565A>T (n.399+2565A>T)
c.165+2565A>T (n.165+2565A>T)
c.766A>T (p.Arg256Ter)
c.772A>T (p.Arg258Ter)
c.484A>T (p.Arg162Ter)
c.*2484A>T (n.*2484A>T)
3g.15644623G>ACA351607148BTDc.707G>A (p.Arg236Lys)
c.399+2566G>A (n.399+2566G>A)
c.165+2566G>A (n.165+2566G>A)
c.767G>A (p.Arg256Lys)
c.773G>A (p.Arg258Lys)
c.485G>A (p.Arg162Lys)
c.*2485G>A (n.*2485G>A)
3g.15644623G>CCA351607150BTDc.707G>C (p.Arg236Thr)
c.399+2566G>C (n.399+2566G>C)
c.165+2566G>C (n.165+2566G>C)
c.767G>C (p.Arg256Thr)
c.773G>C (p.Arg258Thr)
c.485G>C (p.Arg162Thr)
c.*2485G>C (n.*2485G>C)
3g.15644623G>TCA351607152BTDc.707G>T (p.Arg236Ile)
c.399+2566G>T (n.399+2566G>T)
c.165+2566G>T (n.165+2566G>T)
c.767G>T (p.Arg256Ile)
c.773G>T (p.Arg258Ile)
c.485G>T (p.Arg162Ile)
c.*2485G>T (n.*2485G>T)
3g.15644624A>CCA351607156BTDc.708A>C (p.Arg236Ser)
c.399+2567A>C (n.399+2567A>C)
c.165+2567A>C (n.165+2567A>C)
c.768A>C (p.Arg256Ser)
c.774A>C (p.Arg258Ser)
c.486A>C (p.Arg162Ser)
c.*2486A>C (n.*2486A>C)
3g.15644624A>GCA432819316BTDc.708A>G (p.Arg236=)
c.399+2567A>G (n.399+2567A>G)
c.165+2567A>G (n.165+2567A>G)
c.768A>G (p.Arg256=)
c.774A>G (p.Arg258=)
c.486A>G (p.Arg162=)
c.*2486A>G (n.*2486A>G)
3g.15644624A>TCA351607154BTDc.708A>T (p.Arg236Ser)
c.399+2567A>T (n.399+2567A>T)
c.165+2567A>T (n.165+2567A>T)
c.768A>T (p.Arg256Ser)
c.774A>T (p.Arg258Ser)
c.486A>T (p.Arg162Ser)
c.*2486A>T (n.*2486A>T)
3g.15644625G>ACA351607162BTDc.709G>A (p.Val237Ile)
c.399+2568G>A (n.399+2568G>A)
c.165+2568G>A (n.165+2568G>A)
c.769G>A (p.Val257Ile)
c.775G>A (p.Val259Ile)
c.487G>A (p.Val163Ile)
c.*2487G>A (n.*2487G>A)
3g.15644625G>CCA351607164BTDc.709G>C (p.Val237Leu)
c.399+2568G>C (n.399+2568G>C)
c.165+2568G>C (n.165+2568G>C)
c.769G>C (p.Val257Leu)
c.775G>C (p.Val259Leu)
c.487G>C (p.Val163Leu)
c.*2487G>C (n.*2487G>C)
3g.15644625G>TCA351607165BTDc.709G>T (p.Val237Phe)
c.399+2568G>T (n.399+2568G>T)
c.165+2568G>T (n.165+2568G>T)
c.769G>T (p.Val257Phe)
c.775G>T (p.Val259Phe)
c.487G>T (p.Val163Phe)
c.*2487G>T (n.*2487G>T)
gnomAD v4
3g.15644626T>ACA351607167BTDc.710T>A (p.Val237Asp)
c.399+2569T>A (n.399+2569T>A)
c.165+2569T>A (n.165+2569T>A)
c.770T>A (p.Val257Asp)
c.776T>A (p.Val259Asp)
c.488T>A (p.Val163Asp)
c.*2488T>A (n.*2488T>A)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.15644626T>CCA351607170BTDc.710T>C (p.Val237Ala)
c.399+2569T>C (n.399+2569T>C)
c.165+2569T>C (n.165+2569T>C)
c.770T>C (p.Val257Ala)
c.776T>C (p.Val259Ala)
c.488T>C (p.Val163Ala)
c.*2488T>C (n.*2488T>C)
3g.15644626T>GCA351607172BTDc.710T>G (p.Val237Gly)
c.399+2569T>G (n.399+2569T>G)
c.165+2569T>G (n.165+2569T>G)
c.770T>G (p.Val257Gly)
c.776T>G (p.Val259Gly)
c.488T>G (p.Val163Gly)
c.*2488T>G (n.*2488T>G)
3g.15644626T=CA1347664120BTDc.710T= (p.Val237=)
c.399+2569T= (n.399+2569T=)
c.165+2569T= (n.165+2569T=)
c.770T= (p.Val257=)
c.776T= (p.Val259=)
c.488T= (p.Val163=)
c.*2488T= (n.*2488T=)
3g.15644627C>ACA432819325BTDc.711C>A (p.Val237=)
c.399+2570C>A (n.399+2570C>A)
c.165+2570C>A (n.165+2570C>A)
c.771C>A (p.Val257=)
c.777C>A (p.Val259=)
c.489C>A (p.Val163=)
c.*2489C>A (n.*2489C>A)
3g.15644627C>GCA432819324BTDc.711C>G (p.Val237=)
c.399+2570C>G (n.399+2570C>G)
c.165+2570C>G (n.165+2570C>G)
c.771C>G (p.Val257=)
c.777C>G (p.Val259=)
c.489C>G (p.Val163=)
c.*2489C>G (n.*2489C>G)
3g.15644627C>TCA432819323BTDc.711C>T (p.Val237=)
c.399+2570C>T (n.399+2570C>T)
c.165+2570C>T (n.165+2570C>T)
c.771C>T (p.Val257=)
c.777C>T (p.Val259=)
c.489C>T (p.Val163=)
c.*2489C>T (n.*2489C>T)
ClinVar
3g.15644628C>ACA351607174BTDc.712C>A (p.Leu238Ile)
c.399+2571C>A (n.399+2571C>A)
c.165+2571C>A (n.165+2571C>A)
c.772C>A (p.Leu258Ile)
c.778C>A (p.Leu260Ile)
c.490C>A (p.Leu164Ile)
c.*2490C>A (n.*2490C>A)
dbSNP gnomAD v3 gnomAD v4
3g.15644628C=CA1347664125BTDc.712C= (p.Leu238=)
c.399+2571C= (n.399+2571C=)
c.165+2571C= (n.165+2571C=)
c.772C= (p.Leu258=)
c.778C= (p.Leu260=)
c.490C= (p.Leu164=)
c.*2490C= (n.*2490C=)
3g.15644628C>GCA351607176BTDc.712C>G (p.Leu238Val)
c.399+2571C>G (n.399+2571C>G)
c.165+2571C>G (n.165+2571C>G)
c.772C>G (p.Leu258Val)
c.778C>G (p.Leu260Val)
c.490C>G (p.Leu164Val)
c.*2490C>G (n.*2490C>G)
3g.15644628C>TCA351607178BTDc.712C>T (p.Leu238Phe)
c.399+2571C>T (n.399+2571C>T)
c.165+2571C>T (n.165+2571C>T)
c.772C>T (p.Leu258Phe)
c.778C>T (p.Leu260Phe)
c.490C>T (p.Leu164Phe)
c.*2490C>T (n.*2490C>T)
3g.15644629T>ACA351607181BTDc.713T>A (p.Leu238His)
c.399+2572T>A (n.399+2572T>A)
c.165+2572T>A (n.165+2572T>A)
c.773T>A (p.Leu258His)
c.779T>A (p.Leu260His)
c.491T>A (p.Leu164His)
c.*2491T>A (n.*2491T>A)
3g.15644629T>CCA351607183BTDc.713T>C (p.Leu238Pro)
c.399+2572T>C (n.399+2572T>C)
c.165+2572T>C (n.165+2572T>C)
c.773T>C (p.Leu258Pro)
c.779T>C (p.Leu260Pro)
c.491T>C (p.Leu164Pro)
c.*2491T>C (n.*2491T>C)
3g.15644629T>GCA351607185BTDc.713T>G (p.Leu238Arg)
c.399+2572T>G (n.399+2572T>G)
c.165+2572T>G (n.165+2572T>G)
c.773T>G (p.Leu258Arg)
c.779T>G (p.Leu260Arg)
c.491T>G (p.Leu164Arg)
c.*2491T>G (n.*2491T>G)
3g.15644630C>ACA432819332BTDc.714C>A (p.Leu238=)
c.399+2573C>A (n.399+2573C>A)
c.165+2573C>A (n.165+2573C>A)
c.774C>A (p.Leu258=)
c.780C>A (p.Leu260=)
c.492C>A (p.Leu164=)
c.*2492C>A (n.*2492C>A)
3g.15644630C>GCA432819334BTDc.714C>G (p.Leu238=)
c.399+2573C>G (n.399+2573C>G)
c.165+2573C>G (n.165+2573C>G)
c.774C>G (p.Leu258=)
c.780C>G (p.Leu260=)
c.492C>G (p.Leu164=)
c.*2492C>G (n.*2492C>G)
3g.15644630C>TCA432819335BTDc.714C>T (p.Leu238=)
c.399+2573C>T (n.399+2573C>T)
c.165+2573C>T (n.165+2573C>T)
c.774C>T (p.Leu258=)
c.780C>T (p.Leu260=)
c.492C>T (p.Leu164=)
c.*2492C>T (n.*2492C>T)
ClinVar dbSNP gnomAD v4
3g.15644631A>CCA432819336BTDc.715A>C (p.Arg239=)
c.399+2574A>C (n.399+2574A>C)
c.165+2574A>C (n.165+2574A>C)
c.775A>C (p.Arg259=)
c.781A>C (p.Arg261=)
c.493A>C (p.Arg165=)
c.*2493A>C (n.*2493A>C)
3g.15644631A>GCA351607188BTDc.715A>G (p.Arg239Gly)
c.399+2574A>G (n.399+2574A>G)
c.165+2574A>G (n.165+2574A>G)
c.775A>G (p.Arg259Gly)
c.781A>G (p.Arg261Gly)
c.493A>G (p.Arg165Gly)
c.*2493A>G (n.*2493A>G)
3g.15644631A>TCA351607190BTDc.715A>T (p.Arg239Ter)
c.399+2574A>T (n.399+2574A>T)
c.165+2574A>T (n.165+2574A>T)
c.775A>T (p.Arg259Ter)
c.781A>T (p.Arg261Ter)
c.493A>T (p.Arg165Ter)
c.*2493A>T (n.*2493A>T)
3g.15644632G>ACA2277374BTDc.716G>A (p.Arg239Lys)
c.399+2575G>A (n.399+2575G>A)
c.165+2575G>A (n.165+2575G>A)
c.776G>A (p.Arg259Lys)
c.782G>A (p.Arg261Lys)
c.494G>A (p.Arg165Lys)
c.*2494G>A (n.*2494G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15644632G>CCA351607192BTDc.716G>C (p.Arg239Thr)
c.399+2575G>C (n.399+2575G>C)
c.165+2575G>C (n.165+2575G>C)
c.776G>C (p.Arg259Thr)
c.782G>C (p.Arg261Thr)
c.494G>C (p.Arg165Thr)
c.*2494G>C (n.*2494G>C)
3g.15644632G=CA1347664130BTDc.716G= (p.Arg239=)
c.399+2575G= (n.399+2575G=)
c.165+2575G= (n.165+2575G=)
c.776G= (p.Arg259=)
c.782G= (p.Arg261=)
c.494G= (p.Arg165=)
c.*2494G= (n.*2494G=)
3g.15644632G>TCA351607194BTDc.716G>T (p.Arg239Ile)
c.399+2575G>T (n.399+2575G>T)
c.165+2575G>T (n.165+2575G>T)
c.776G>T (p.Arg259Ile)
c.782G>T (p.Arg261Ile)
c.494G>T (p.Arg165Ile)
c.*2494G>T (n.*2494G>T)
3g.15644633A>CCA351607195BTDc.717A>C (p.Arg239Ser)
c.399+2576A>C (n.399+2576A>C)
c.165+2576A>C (n.165+2576A>C)
c.777A>C (p.Arg259Ser)
c.783A>C (p.Arg261Ser)
c.495A>C (p.Arg165Ser)
c.*2495A>C (n.*2495A>C)
3g.15644633A>GCA432819338BTDc.717A>G (p.Arg239=)
c.399+2576A>G (n.399+2576A>G)
c.165+2576A>G (n.165+2576A>G)
c.777A>G (p.Arg259=)
c.783A>G (p.Arg261=)
c.495A>G (p.Arg165=)
c.*2495A>G (n.*2495A>G)
3g.15644633A>TCA351607197BTDc.717A>T (p.Arg239Ser)
c.399+2576A>T (n.399+2576A>T)
c.165+2576A>T (n.165+2576A>T)
c.777A>T (p.Arg259Ser)
c.783A>T (p.Arg261Ser)
c.495A>T (p.Arg165Ser)
c.*2495A>T (n.*2495A>T)
3g.15644634G>ACA351607199BTDc.718G>A (p.Asp240Asn)
c.399+2577G>A (n.399+2577G>A)
c.165+2577G>A (n.165+2577G>A)
c.778G>A (p.Asp260Asn)
c.784G>A (p.Asp262Asn)
c.496G>A (p.Asp166Asn)
c.*2496G>A (n.*2496G>A)
3g.15644634G>CCA351607200BTDc.718G>C (p.Asp240His)
c.399+2577G>C (n.399+2577G>C)
c.165+2577G>C (n.165+2577G>C)
c.778G>C (p.Asp260His)
c.784G>C (p.Asp262His)
c.496G>C (p.Asp166His)
c.*2496G>C (n.*2496G>C)
3g.15644634G>TCA351607201BTDc.718G>T (p.Asp240Tyr)
c.399+2577G>T (n.399+2577G>T)
c.165+2577G>T (n.165+2577G>T)
c.778G>T (p.Asp260Tyr)
c.784G>T (p.Asp262Tyr)
c.496G>T (p.Asp166Tyr)
c.*2496G>T (n.*2496G>T)
3g.15644634_15644637delCA913102313BTDc.718_721del (p.Asp240ThrfsTer3)
c.399+2577_399+2580del (n.399+2577_399+2580del)
c.165+2577_165+2580del (n.165+2577_165+2580del)
c.778_781del (p.Asp260ThrfsTer3)
c.784_787del (p.Asp262ThrfsTer3)
c.496_499del (p.Asp166ThrfsTer3)
c.*2496_*2499del (n.*2496_*2499del)
3g.15644634_15644637delinsGACTCA1347664133BTDc.718_721delinsGACT (p.Asp240=)
c.399+2577_399+2580delinsGACT (n.399+2577_399+2580delinsGACT)
c.165+2577_165+2580delinsGACT (n.165+2577_165+2580delinsGACT)
c.778_781delinsGACT (p.Asp260=)
c.784_787delinsGACT (p.Asp262=)
c.496_499delinsGACT (p.Asp166=)
c.*2496_*2499delinsGACT (n.*2496_*2499delinsGACT)
3g.15644635A=CA1347664138BTDc.719A= (p.Asp240=)
c.399+2578A= (n.399+2578A=)
c.165+2578A= (n.165+2578A=)
c.779A= (p.Asp260=)
c.785A= (p.Asp262=)
c.497A= (p.Asp166=)
c.*2497A= (n.*2497A=)
3g.15644635A>CCA2277375BTDc.719A>C (p.Asp240Ala)
c.399+2578A>C (n.399+2578A>C)
c.165+2578A>C (n.165+2578A>C)
c.779A>C (p.Asp260Ala)
c.785A>C (p.Asp262Ala)
c.497A>C (p.Asp166Ala)
c.*2497A>C (n.*2497A>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.15644635A>GCA351607202BTDc.719A>G (p.Asp240Gly)
c.399+2578A>G (n.399+2578A>G)
c.165+2578A>G (n.165+2578A>G)
c.779A>G (p.Asp260Gly)
c.785A>G (p.Asp262Gly)
c.497A>G (p.Asp166Gly)
c.*2497A>G (n.*2497A>G)
3g.15644635A>TCA351607203BTDc.719A>T (p.Asp240Val)
c.399+2578A>T (n.399+2578A>T)
c.165+2578A>T (n.165+2578A>T)
c.779A>T (p.Asp260Val)
c.785A>T (p.Asp262Val)
c.497A>T (p.Asp166Val)
c.*2497A>T (n.*2497A>T)
3g.15644637_15644639delCA658822117BTDc.721_723del (p.Tyr241del)
c.399+2580_399+2582del (n.399+2580_399+2582del)
c.165+2580_165+2582del (n.165+2580_165+2582del)
c.781_783del (p.Tyr261del)
c.787_789del (p.Tyr263del)
c.499_501del (p.Tyr167del)
c.*2499_*2501del (n.*2499_*2501del)
ClinVar dbSNP
3g.15644636C>ACA351607204BTDc.720C>A (p.Asp240Glu)
c.399+2579C>A (n.399+2579C>A)
c.165+2579C>A (n.165+2579C>A)
c.780C>A (p.Asp260Glu)
c.786C>A (p.Asp262Glu)
c.498C>A (p.Asp166Glu)
c.*2498C>A (n.*2498C>A)
3g.15644636C>GCA351607205BTDc.720C>G (p.Asp240Glu)
c.399+2579C>G (n.399+2579C>G)
c.165+2579C>G (n.165+2579C>G)
c.780C>G (p.Asp260Glu)
c.786C>G (p.Asp262Glu)
c.498C>G (p.Asp166Glu)
c.*2498C>G (n.*2498C>G)
3g.15644636C>TCA432819342BTDc.720C>T (p.Asp240=)
c.399+2579C>T (n.399+2579C>T)
c.165+2579C>T (n.165+2579C>T)
c.780C>T (p.Asp260=)
c.786C>T (p.Asp262=)
c.498C>T (p.Asp166=)
c.*2498C>T (n.*2498C>T)
gnomAD v4
3g.15644637T>ACA351607208BTDc.721T>A (p.Tyr241Asn)
c.399+2580T>A (n.399+2580T>A)
c.165+2580T>A (n.165+2580T>A)
c.781T>A (p.Tyr261Asn)
c.787T>A (p.Tyr263Asn)
c.499T>A (p.Tyr167Asn)
c.*2499T>A (n.*2499T>A)
3g.15644637T>CCA351607206BTDc.721T>C (p.Tyr241His)
c.399+2580T>C (n.399+2580T>C)
c.165+2580T>C (n.165+2580T>C)
c.781T>C (p.Tyr261His)
c.787T>C (p.Tyr263His)
c.499T>C (p.Tyr167His)
c.*2499T>C (n.*2499T>C)
3g.15644637T>GCA351607207BTDc.721T>G (p.Tyr241Asp)
c.399+2580T>G (n.399+2580T>G)
c.165+2580T>G (n.165+2580T>G)
c.781T>G (p.Tyr261Asp)
c.787T>G (p.Tyr263Asp)
c.499T>G (p.Tyr167Asp)
c.*2499T>G (n.*2499T>G)
3g.15644638A>CCA351607209BTDc.722A>C (p.Tyr241Ser)
c.399+2581A>C (n.399+2581A>C)
c.165+2581A>C (n.165+2581A>C)
c.782A>C (p.Tyr261Ser)
c.788A>C (p.Tyr263Ser)
c.500A>C (p.Tyr167Ser)
c.*2500A>C (n.*2500A>C)
3g.15644638A>GCA351607210BTDc.722A>G (p.Tyr241Cys)
c.399+2581A>G (n.399+2581A>G)
c.165+2581A>G (n.165+2581A>G)
c.782A>G (p.Tyr261Cys)
c.788A>G (p.Tyr263Cys)
c.500A>G (p.Tyr167Cys)
c.*2500A>G (n.*2500A>G)
3g.15644638A>TCA351607211BTDc.722A>T (p.Tyr241Phe)
c.399+2581A>T (n.399+2581A>T)
c.165+2581A>T (n.165+2581A>T)
c.782A>T (p.Tyr261Phe)
c.788A>T (p.Tyr263Phe)
c.500A>T (p.Tyr167Phe)
c.*2500A>T (n.*2500A>T)
3g.15644639C>ACA351607212BTDc.723C>A (p.Tyr241Ter)
c.399+2582C>A (n.399+2582C>A)
c.165+2582C>A (n.165+2582C>A)
c.783C>A (p.Tyr261Ter)
c.789C>A (p.Tyr263Ter)
c.501C>A (p.Tyr167Ter)
c.*2501C>A (n.*2501C>A)
3g.15644639C=CA1347664144BTDc.723C= (p.Tyr241=)
c.399+2582C= (n.399+2582C=)
c.165+2582C= (n.165+2582C=)
c.783C= (p.Tyr261=)
c.789C= (p.Tyr263=)
c.501C= (p.Tyr167=)
c.*2501C= (n.*2501C=)
3g.15644639C>GCA351607213BTDc.723C>G (p.Tyr241Ter)
c.399+2582C>G (n.399+2582C>G)
c.165+2582C>G (n.165+2582C>G)
c.783C>G (p.Tyr261Ter)
c.789C>G (p.Tyr263Ter)
c.501C>G (p.Tyr167Ter)
c.*2501C>G (n.*2501C>G)
3g.15644639C>TCA2277376BTDc.723C>T (p.Tyr241=)
c.399+2582C>T (n.399+2582C>T)
c.165+2582C>T (n.165+2582C>T)
c.783C>T (p.Tyr261=)
c.789C>T (p.Tyr263=)
c.501C>T (p.Tyr167=)
c.*2501C>T (n.*2501C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15644640A>CCA351607214BTDc.724A>C (p.Lys242Gln)
c.399+2583A>C (n.399+2583A>C)
c.165+2583A>C (n.165+2583A>C)
c.784A>C (p.Lys262Gln)
c.790A>C (p.Lys264Gln)
c.502A>C (p.Lys168Gln)
c.*2502A>C (n.*2502A>C)
gnomAD v4
3g.15644640A>GCA351607215BTDc.724A>G (p.Lys242Glu)
c.399+2583A>G (n.399+2583A>G)
c.165+2583A>G (n.165+2583A>G)
c.784A>G (p.Lys262Glu)
c.790A>G (p.Lys264Glu)
c.502A>G (p.Lys168Glu)
c.*2502A>G (n.*2502A>G)
3g.15644640A>TCA351607216BTDc.724A>T (p.Lys242Ter)
c.399+2583A>T (n.399+2583A>T)
c.165+2583A>T (n.165+2583A>T)
c.784A>T (p.Lys262Ter)
c.790A>T (p.Lys264Ter)
c.502A>T (p.Lys168Ter)
c.*2502A>T (n.*2502A>T)
3g.15644641A>CCA351607217BTDc.725A>C (p.Lys242Thr)
c.399+2584A>C (n.399+2584A>C)
c.165+2584A>C (n.165+2584A>C)
c.785A>C (p.Lys262Thr)
c.791A>C (p.Lys264Thr)
c.503A>C (p.Lys168Thr)
c.*2503A>C (n.*2503A>C)
3g.15644641A>GCA351607218BTDc.725A>G (p.Lys242Arg)
c.399+2584A>G (n.399+2584A>G)
c.165+2584A>G (n.165+2584A>G)
c.785A>G (p.Lys262Arg)
c.791A>G (p.Lys264Arg)
c.503A>G (p.Lys168Arg)
c.*2503A>G (n.*2503A>G)
3g.15644641A>TCA351607219BTDc.725A>T (p.Lys242Met)
c.399+2584A>T (n.399+2584A>T)
c.165+2584A>T (n.165+2584A>T)
c.785A>T (p.Lys262Met)
c.791A>T (p.Lys264Met)
c.503A>T (p.Lys168Met)
c.*2503A>T (n.*2503A>T)
3g.15644642G>ACA432819347BTDc.726G>A (p.Lys242=)
c.399+2585G>A (n.399+2585G>A)
c.165+2585G>A (n.165+2585G>A)
c.786G>A (p.Lys262=)
c.792G>A (p.Lys264=)
c.504G>A (p.Lys168=)
c.*2504G>A (n.*2504G>A)
COSMIC
3g.15644642G>CCA351607221BTDc.726G>C (p.Lys242Asn)
c.399+2585G>C (n.399+2585G>C)
c.165+2585G>C (n.165+2585G>C)
c.786G>C (p.Lys262Asn)
c.792G>C (p.Lys264Asn)
c.504G>C (p.Lys168Asn)
c.*2504G>C (n.*2504G>C)
3g.15644642G>TCA351607220BTDc.726G>T (p.Lys242Asn)
c.399+2585G>T (n.399+2585G>T)
c.165+2585G>T (n.165+2585G>T)
c.786G>T (p.Lys262Asn)
c.792G>T (p.Lys264Asn)
c.504G>T (p.Lys168Asn)
c.*2504G>T (n.*2504G>T)
3g.15644643G>ACA351607222BTDc.727G>A (p.Val243Met)
c.399+2586G>A (n.399+2586G>A)
c.165+2586G>A (n.165+2586G>A)
c.787G>A (p.Val263Met)
c.793G>A (p.Val265Met)
c.505G>A (p.Val169Met)
c.*2505G>A (n.*2505G>A)
3g.15644643G>CCA351607223BTDc.727G>C (p.Val243Leu)
c.399+2586G>C (n.399+2586G>C)
c.165+2586G>C (n.165+2586G>C)
c.787G>C (p.Val263Leu)
c.793G>C (p.Val265Leu)
c.505G>C (p.Val169Leu)
c.*2505G>C (n.*2505G>C)
3g.15644643G=CA1347664147BTDc.727G= (p.Val243=)
c.399+2586G= (n.399+2586G=)
c.165+2586G= (n.165+2586G=)
c.787G= (p.Val263=)
c.793G= (p.Val265=)
c.505G= (p.Val169=)
c.*2505G= (n.*2505G=)
3g.15644643G>TCA2277377BTDc.727G>T (p.Val243Leu)
c.399+2586G>T (n.399+2586G>T)
c.165+2586G>T (n.165+2586G>T)
c.787G>T (p.Val263Leu)
c.793G>T (p.Val265Leu)
c.505G>T (p.Val169Leu)
c.*2505G>T (n.*2505G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15644644T>ACA351607224BTDc.728T>A (p.Val243Glu)
c.399+2587T>A (n.399+2587T>A)
c.165+2587T>A (n.165+2587T>A)
c.788T>A (p.Val263Glu)
c.794T>A (p.Val265Glu)
c.506T>A (p.Val169Glu)
c.*2506T>A (n.*2506T>A)
3g.15644644T>CCA351607225BTDc.728T>C (p.Val243Ala)
c.399+2587T>C (n.399+2587T>C)
c.165+2587T>C (n.165+2587T>C)
c.788T>C (p.Val263Ala)
c.794T>C (p.Val265Ala)
c.506T>C (p.Val169Ala)
c.*2506T>C (n.*2506T>C)
3g.15644644T>GCA351607226BTDc.728T>G (p.Val243Gly)
c.399+2587T>G (n.399+2587T>G)
c.165+2587T>G (n.165+2587T>G)
c.788T>G (p.Val263Gly)
c.794T>G (p.Val265Gly)
c.506T>G (p.Val169Gly)
c.*2506T>G (n.*2506T>G)
3g.15644645G>ACA2277378BTDc.729G>A (p.Val243=)
c.399+2588G>A (n.399+2588G>A)
c.165+2588G>A (n.165+2588G>A)
c.789G>A (p.Val263=)
c.795G>A (p.Val265=)
c.507G>A (p.Val169=)
c.*2507G>A (n.*2507G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15644645G>CCA432819349BTDc.729G>C (p.Val243=)
c.399+2588G>C (n.399+2588G>C)
c.165+2588G>C (n.165+2588G>C)
c.789G>C (p.Val263=)
c.795G>C (p.Val265=)
c.507G>C (p.Val169=)
c.*2507G>C (n.*2507G>C)
3g.15644645G=CA1347664151BTDc.729G= (p.Val243=)
c.399+2588G= (n.399+2588G=)
c.165+2588G= (n.165+2588G=)
c.789G= (p.Val263=)
c.795G= (p.Val265=)
c.507G= (p.Val169=)
c.*2507G= (n.*2507G=)
3g.15644645G>TCA432819350BTDc.729G>T (p.Val243=)
c.399+2588G>T (n.399+2588G>T)
c.165+2588G>T (n.165+2588G>T)
c.789G>T (p.Val263=)
c.795G>T (p.Val265=)
c.507G>T (p.Val169=)
c.*2507G>T (n.*2507G>T)
3g.15644646A>CCA351607227BTDc.730A>C (p.Lys244Gln)
c.399+2589A>C (n.399+2589A>C)
c.165+2589A>C (n.165+2589A>C)
c.790A>C (p.Lys264Gln)
c.796A>C (p.Lys266Gln)
c.508A>C (p.Lys170Gln)
c.*2508A>C (n.*2508A>C)
3g.15644646A>GCA351607228BTDc.730A>G (p.Lys244Glu)
c.399+2589A>G (n.399+2589A>G)
c.165+2589A>G (n.165+2589A>G)
c.790A>G (p.Lys264Glu)
c.796A>G (p.Lys266Glu)
c.508A>G (p.Lys170Glu)
c.*2508A>G (n.*2508A>G)
3g.15644646A>TCA351607229BTDc.730A>T (p.Lys244Ter)
c.399+2589A>T (n.399+2589A>T)
c.165+2589A>T (n.165+2589A>T)
c.790A>T (p.Lys264Ter)
c.796A>T (p.Lys266Ter)
c.508A>T (p.Lys170Ter)
c.*2508A>T (n.*2508A>T)
3g.15644647A>CCA351607230BTDc.731A>C (p.Lys244Thr)
c.399+2590A>C (n.399+2590A>C)
c.165+2590A>C (n.165+2590A>C)
c.791A>C (p.Lys264Thr)
c.797A>C (p.Lys266Thr)
c.509A>C (p.Lys170Thr)
c.*2509A>C (n.*2509A>C)
3g.15644647A>GCA351607231BTDc.731A>G (p.Lys244Arg)
c.399+2590A>G (n.399+2590A>G)
c.165+2590A>G (n.165+2590A>G)
c.791A>G (p.Lys264Arg)
c.797A>G (p.Lys266Arg)
c.509A>G (p.Lys170Arg)
c.*2509A>G (n.*2509A>G)
3g.15644647A>TCA351607232BTDc.731A>T (p.Lys244Met)
c.399+2590A>T (n.399+2590A>T)
c.165+2590A>T (n.165+2590A>T)
c.791A>T (p.Lys264Met)
c.797A>T (p.Lys266Met)
c.509A>T (p.Lys170Met)
c.*2509A>T (n.*2509A>T)
3g.15644648G>ACA432819351BTDc.732G>A (p.Lys244=)
c.399+2591G>A (n.399+2591G>A)
c.165+2591G>A (n.165+2591G>A)
c.792G>A (p.Lys264=)
c.798G>A (p.Lys266=)
c.510G>A (p.Lys170=)
c.*2510G>A (n.*2510G>A)
3g.15644648G>CCA351607233BTDc.732G>C (p.Lys244Asn)
c.399+2591G>C (n.399+2591G>C)
c.165+2591G>C (n.165+2591G>C)
c.792G>C (p.Lys264Asn)
c.798G>C (p.Lys266Asn)
c.510G>C (p.Lys170Asn)
c.*2510G>C (n.*2510G>C)
3g.15644648G>TCA351607234BTDc.732G>T (p.Lys244Asn)
c.399+2591G>T (n.399+2591G>T)
c.165+2591G>T (n.165+2591G>T)
c.792G>T (p.Lys264Asn)
c.798G>T (p.Lys266Asn)
c.510G>T (p.Lys170Asn)
c.*2510G>T (n.*2510G>T)
3g.15644649C>ACA351607237BTDc.733C>A (p.His245Asn)
c.399+2592C>A (n.399+2592C>A)
c.165+2592C>A (n.165+2592C>A)
c.793C>A (p.His265Asn)
c.799C>A (p.His267Asn)
c.511C>A (p.His171Asn)
c.*2511C>A (n.*2511C>A)
3g.15644649C=CA1347664153BTDc.733C= (p.His245=)
c.399+2592C= (n.399+2592C=)
c.165+2592C= (n.165+2592C=)
c.793C= (p.His265=)
c.799C= (p.His267=)
c.511C= (p.His171=)
c.*2511C= (n.*2511C=)
3g.15644649C>GCA351607235BTDc.733C>G (p.His245Asp)
c.399+2592C>G (n.399+2592C>G)
c.165+2592C>G (n.165+2592C>G)
c.793C>G (p.His265Asp)
c.799C>G (p.His267Asp)
c.511C>G (p.His171Asp)
c.*2511C>G (n.*2511C>G)
gnomAD v4
3g.15644649C>TCA351607236BTDc.733C>T (p.His245Tyr)
c.399+2592C>T (n.399+2592C>T)
c.165+2592C>T (n.165+2592C>T)
c.793C>T (p.His265Tyr)
c.799C>T (p.His267Tyr)
c.511C>T (p.His171Tyr)
c.*2511C>T (n.*2511C>T)
dbSNP gnomAD v4
3g.15644650A=CA1347664160BTDc.734A= (p.His245=)
c.399+2593A= (n.399+2593A=)
c.165+2593A= (n.165+2593A=)
c.794A= (p.His265=)
c.800A= (p.His267=)
c.512A= (p.His171=)
c.*2512A= (n.*2512A=)
3g.15644650A>CCA351607238BTDc.734A>C (p.His245Pro)
c.399+2593A>C (n.399+2593A>C)
c.165+2593A>C (n.165+2593A>C)
c.794A>C (p.His265Pro)
c.800A>C (p.His267Pro)
c.512A>C (p.His171Pro)
c.*2512A>C (n.*2512A>C)
3g.15644650A>GCA351607239BTDc.734A>G (p.His245Arg)
c.399+2593A>G (n.399+2593A>G)
c.165+2593A>G (n.165+2593A>G)
c.794A>G (p.His265Arg)
c.800A>G (p.His267Arg)
c.512A>G (p.His171Arg)
c.*2512A>G (n.*2512A>G)
3g.15644650A>TCA278260BTDc.734A>T (p.His245Leu)
c.399+2593A>T (n.399+2593A>T)
c.165+2593A>T (n.165+2593A>T)
c.794A>T (p.His265Leu)
c.800A>T (p.His267Leu)
c.512A>T (p.His171Leu)
c.*2512A>T (n.*2512A>T)
dbSNP
3g.[15644650A>T;15644789T>G]CA082722BTDc.[734A>T;873T>G] (p.[His245Leu;Ser291Arg])
c.[399+2593A>T;399+2732T>G] (n.[399+2593A>T;399+2732T>G])
c.[165+2593A>T;165+2732T>G] (n.[165+2593A>T;165+2732T>G])
c.[794A>T;933T>G] (p.[His265Leu;Ser311Arg])
c.[800A>T;939T>G] (p.[His267Leu;Ser313Arg])
c.[512A>T;651T>G] (p.[His171Leu;Ser217Arg])
c.[*2512A>T;*2651T>G] (n.[*2512A>T;*2651T>G])
3g.15644652_15644653insGATGCA2664667151BTDc.736_737insGATG (p.Val246GlyfsTer19)
c.399+2595_399+2596insGATG (n.399+2595_399+2596insGATG)
c.165+2595_165+2596insGATG (n.165+2595_165+2596insGATG)
c.796_797insGATG (p.Val266GlyfsTer19)
c.802_803insGATG (p.Val268GlyfsTer19)
c.514_515insGATG (p.Val172GlyfsTer19)
c.736_737insGATG (p.Val246GlyfsTer?)
c.*2514_*2515insGATG (n.*2514_*2515insGATG)
gnomAD v4
3g.15644651T>ACA351607240BTDc.735T>A (p.His245Gln)
c.399+2594T>A (n.399+2594T>A)
c.165+2594T>A (n.165+2594T>A)
c.795T>A (p.His265Gln)
c.801T>A (p.His267Gln)
c.513T>A (p.His171Gln)
c.*2513T>A (n.*2513T>A)
3g.15644651T>CCA432819352BTDc.735T>C (p.His245=)
c.399+2594T>C (n.399+2594T>C)
c.165+2594T>C (n.165+2594T>C)
c.795T>C (p.His265=)
c.801T>C (p.His267=)
c.513T>C (p.His171=)
c.*2513T>C (n.*2513T>C)
COSMIC
3g.15644651T>GCA351607241BTDc.735T>G (p.His245Gln)
c.399+2594T>G (n.399+2594T>G)
c.165+2594T>G (n.165+2594T>G)
c.795T>G (p.His265Gln)
c.801T>G (p.His267Gln)
c.513T>G (p.His171Gln)
c.*2513T>G (n.*2513T>G)
3g.15644652G>ACA351607242BTDc.736G>A (p.Val246Ile)
c.399+2595G>A (n.399+2595G>A)
c.165+2595G>A (n.165+2595G>A)
c.796G>A (p.Val266Ile)
c.802G>A (p.Val268Ile)
c.514G>A (p.Val172Ile)
c.*2514G>A (n.*2514G>A)
dbSNP
3g.15644652G>CCA351607243BTDc.736G>C (p.Val246Leu)
c.399+2595G>C (n.399+2595G>C)
c.165+2595G>C (n.165+2595G>C)
c.796G>C (p.Val266Leu)
c.802G>C (p.Val268Leu)
c.514G>C (p.Val172Leu)
c.*2514G>C (n.*2514G>C)
dbSNP gnomAD v3 gnomAD v4
3g.15644652G=CA1347664168BTDc.736G= (p.Val246=)
c.399+2595G= (n.399+2595G=)
c.165+2595G= (n.165+2595G=)
c.796G= (p.Val266=)
c.802G= (p.Val268=)
c.514G= (p.Val172=)
c.*2514G= (n.*2514G=)
3g.15644652G>TCA351607244BTDc.736G>T (p.Val246Phe)
c.399+2595G>T (n.399+2595G>T)
c.165+2595G>T (n.165+2595G>T)
c.796G>T (p.Val266Phe)
c.802G>T (p.Val268Phe)
c.514G>T (p.Val172Phe)
c.*2514G>T (n.*2514G>T)
3g.15644653T>ACA351607245BTDc.737T>A (p.Val246Asp)
c.399+2596T>A (n.399+2596T>A)
c.165+2596T>A (n.165+2596T>A)
c.797T>A (p.Val266Asp)
c.803T>A (p.Val268Asp)
c.515T>A (p.Val172Asp)
c.*2515T>A (n.*2515T>A)
ClinVar
3g.15644653T>CCA351607246BTDc.737T>C (p.Val246Ala)
c.399+2596T>C (n.399+2596T>C)
c.165+2596T>C (n.165+2596T>C)
c.797T>C (p.Val266Ala)
c.803T>C (p.Val268Ala)
c.515T>C (p.Val172Ala)
c.*2515T>C (n.*2515T>C)
3g.15644653T>GCA351607247BTDc.737T>G (p.Val246Gly)
c.399+2596T>G (n.399+2596T>G)
c.165+2596T>G (n.165+2596T>G)
c.797T>G (p.Val266Gly)
c.803T>G (p.Val268Gly)
c.515T>G (p.Val172Gly)
c.*2515T>G (n.*2515T>G)
3g.15644654T>ACA432819354BTDc.738T>A (p.Val246=)
c.399+2597T>A (n.399+2597T>A)
c.165+2597T>A (n.165+2597T>A)
c.798T>A (p.Val266=)
c.804T>A (p.Val268=)
c.516T>A (p.Val172=)
c.*2516T>A (n.*2516T>A)
3g.15644654T>CCA432819355BTDc.738T>C (p.Val246=)
c.399+2597T>C (n.399+2597T>C)
c.165+2597T>C (n.165+2597T>C)
c.798T>C (p.Val266=)
c.804T>C (p.Val268=)
c.516T>C (p.Val172=)
c.*2516T>C (n.*2516T>C)
3g.15644654T>GCA432819357BTDc.738T>G (p.Val246=)
c.399+2597T>G (n.399+2597T>G)
c.165+2597T>G (n.165+2597T>G)
c.798T>G (p.Val266=)
c.804T>G (p.Val268=)
c.516T>G (p.Val172=)
c.*2516T>G (n.*2516T>G)
3g.15644655G>ACA351607250BTDc.739G>A (p.Val247Met)
c.399+2598G>A (n.399+2598G>A)
c.165+2598G>A (n.165+2598G>A)
c.799G>A (p.Val267Met)
c.805G>A (p.Val269Met)
c.517G>A (p.Val173Met)
c.*2517G>A (n.*2517G>A)
dbSNP gnomAD v3 gnomAD v4
3g.15644655G>CCA351607249BTDc.739G>C (p.Val247Leu)
c.399+2598G>C (n.399+2598G>C)
c.165+2598G>C (n.165+2598G>C)
c.799G>C (p.Val267Leu)
c.805G>C (p.Val269Leu)
c.517G>C (p.Val173Leu)
c.*2517G>C (n.*2517G>C)
3g.15644655G=CA1347664174BTDc.739G= (p.Val247=)
c.399+2598G= (n.399+2598G=)
c.165+2598G= (n.165+2598G=)
c.799G= (p.Val267=)
c.805G= (p.Val269=)
c.517G= (p.Val173=)
c.*2517G= (n.*2517G=)
3g.15644655G>TCA351607248BTDc.739G>T (p.Val247Leu)
c.399+2598G>T (n.399+2598G>T)
c.165+2598G>T (n.165+2598G>T)
c.799G>T (p.Val267Leu)
c.805G>T (p.Val269Leu)
c.517G>T (p.Val173Leu)
c.*2517G>T (n.*2517G>T)
ClinVar dbSNP
3g.15644656T>ACA351607251BTDc.740T>A (p.Val247Glu)
c.399+2599T>A (n.399+2599T>A)
c.165+2599T>A (n.165+2599T>A)
c.800T>A (p.Val267Glu)
c.806T>A (p.Val269Glu)
c.518T>A (p.Val173Glu)
c.*2518T>A (n.*2518T>A)
3g.15644656T>CCA351607252BTDc.740T>C (p.Val247Ala)
c.399+2599T>C (n.399+2599T>C)
c.165+2599T>C (n.165+2599T>C)
c.800T>C (p.Val267Ala)
c.806T>C (p.Val269Ala)
c.518T>C (p.Val173Ala)
c.*2518T>C (n.*2518T>C)
dbSNP gnomAD v2 gnomAD v4
3g.15644656T>GCA351607253BTDc.740T>G (p.Val247Gly)
c.399+2599T>G (n.399+2599T>G)
c.165+2599T>G (n.165+2599T>G)
c.800T>G (p.Val267Gly)
c.806T>G (p.Val269Gly)
c.518T>G (p.Val173Gly)
c.*2518T>G (n.*2518T>G)
3g.15644656T=CA1347664179BTDc.740T= (p.Val247=)
c.399+2599T= (n.399+2599T=)
c.165+2599T= (n.165+2599T=)
c.800T= (p.Val267=)
c.806T= (p.Val269=)
c.518T= (p.Val173=)
c.*2518T= (n.*2518T=)
3g.15644657G>ACA2277379BTDc.741G>A (p.Val247=)
c.399+2600G>A (n.399+2600G>A)
c.165+2600G>A (n.165+2600G>A)
c.801G>A (p.Val267=)
c.807G>A (p.Val269=)
c.519G>A (p.Val173=)
c.*2519G>A (n.*2519G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.15644657G>CCA432819359BTDc.741G>C (p.Val247=)
c.399+2600G>C (n.399+2600G>C)
c.165+2600G>C (n.165+2600G>C)
c.801G>C (p.Val267=)
c.807G>C (p.Val269=)
c.519G>C (p.Val173=)
c.*2519G>C (n.*2519G>C)
3g.15644657G=CA1347664181BTDc.741G= (p.Val247=)
c.399+2600G= (n.399+2600G=)
c.165+2600G= (n.165+2600G=)
c.801G= (p.Val267=)
c.807G= (p.Val269=)
c.519G= (p.Val173=)
c.*2519G= (n.*2519G=)
3g.15644657G>TCA432819360BTDc.741G>T (p.Val247=)
c.399+2600G>T (n.399+2600G>T)
c.165+2600G>T (n.165+2600G>T)
c.801G>T (p.Val267=)
c.807G>T (p.Val269=)
c.519G>T (p.Val173=)
c.*2519G>T (n.*2519G>T)
3g.15644658T>ACA351607254BTDc.742T>A (p.Tyr248Asn)
c.399+2601T>A (n.399+2601T>A)
c.165+2601T>A (n.165+2601T>A)
c.802T>A (p.Tyr268Asn)
c.808T>A (p.Tyr270Asn)
c.520T>A (p.Tyr174Asn)
c.*2520T>A (n.*2520T>A)
3g.15644658T>CCA351607255BTDc.742T>C (p.Tyr248His)
c.399+2601T>C (n.399+2601T>C)
c.165+2601T>C (n.165+2601T>C)
c.802T>C (p.Tyr268His)
c.808T>C (p.Tyr270His)
c.520T>C (p.Tyr174His)
c.*2520T>C (n.*2520T>C)
3g.15644658T>GCA351607256BTDc.742T>G (p.Tyr248Asp)
c.399+2601T>G (n.399+2601T>G)
c.165+2601T>G (n.165+2601T>G)
c.802T>G (p.Tyr268Asp)
c.808T>G (p.Tyr270Asp)
c.520T>G (p.Tyr174Asp)
c.*2520T>G (n.*2520T>G)
3g.15644659A>CCA351607257BTDc.743A>C (p.Tyr248Ser)
c.399+2602A>C (n.399+2602A>C)
c.165+2602A>C (n.165+2602A>C)
c.803A>C (p.Tyr268Ser)
c.809A>C (p.Tyr270Ser)
c.521A>C (p.Tyr174Ser)
c.*2521A>C (n.*2521A>C)
3g.15644659A>GCA351607258BTDc.743A>G (p.Tyr248Cys)
c.399+2602A>G (n.399+2602A>G)
c.165+2602A>G (n.165+2602A>G)
c.803A>G (p.Tyr268Cys)
c.809A>G (p.Tyr270Cys)
c.521A>G (p.Tyr174Cys)
c.*2521A>G (n.*2521A>G)
3g.15644659A>TCA351607259BTDc.743A>T (p.Tyr248Phe)
c.399+2602A>T (n.399+2602A>T)
c.165+2602A>T (n.165+2602A>T)
c.803A>T (p.Tyr268Phe)
c.809A>T (p.Tyr270Phe)
c.521A>T (p.Tyr174Phe)
c.*2521A>T (n.*2521A>T)
gnomAD v4
3g.15644659dupCA2499216566BTDc.743dup (p.Tyr248Ter)
c.399+2602dup (n.399+2602dup)
c.165+2602dup (n.165+2602dup)
c.803dup (p.Tyr268Ter)
c.809dup (p.Tyr270Ter)
c.521dup (p.Tyr174Ter)
c.*2521dup (n.*2521dup)
ClinVar dbSNP
3g.15644660C>ACA351607260BTDc.744C>A (p.Tyr248Ter)
c.399+2603C>A (n.399+2603C>A)
c.165+2603C>A (n.165+2603C>A)
c.804C>A (p.Tyr268Ter)
c.810C>A (p.Tyr270Ter)
c.522C>A (p.Tyr174Ter)
c.*2522C>A (n.*2522C>A)
3g.15644660C>GCA351607261BTDc.744C>G (p.Tyr248Ter)
c.399+2603C>G (n.399+2603C>G)
c.165+2603C>G (n.165+2603C>G)
c.804C>G (p.Tyr268Ter)
c.810C>G (p.Tyr270Ter)
c.522C>G (p.Tyr174Ter)
c.*2522C>G (n.*2522C>G)
3g.15644660C>TCA432819362BTDc.744C>T (p.Tyr248=)
c.399+2603C>T (n.399+2603C>T)
c.165+2603C>T (n.165+2603C>T)
c.804C>T (p.Tyr268=)
c.810C>T (p.Tyr270=)
c.522C>T (p.Tyr174=)
c.*2522C>T (n.*2522C>T)
gnomAD v4
3g.15644661C>ACA351607263BTDc.745C>A (p.Pro249Thr)
c.399+2604C>A (n.399+2604C>A)
c.165+2604C>A (n.165+2604C>A)
c.805C>A (p.Pro269Thr)
c.811C>A (p.Pro271Thr)
c.523C>A (p.Pro175Thr)
c.*2523C>A (n.*2523C>A)
3g.15644661C>GCA351607264BTDc.745C>G (p.Pro249Ala)
c.399+2604C>G (n.399+2604C>G)
c.165+2604C>G (n.165+2604C>G)
c.805C>G (p.Pro269Ala)
c.811C>G (p.Pro271Ala)
c.523C>G (p.Pro175Ala)
c.*2523C>G (n.*2523C>G)
gnomAD v4
3g.15644661C>TCA351607262BTDc.745C>T (p.Pro249Ser)
c.399+2604C>T (n.399+2604C>T)
c.165+2604C>T (n.165+2604C>T)
c.805C>T (p.Pro269Ser)
c.811C>T (p.Pro271Ser)
c.523C>T (p.Pro175Ser)
c.*2523C>T (n.*2523C>T)
gnomAD v4
3g.15644662C>ACA351607265BTDc.746C>A (p.Pro249Gln)
c.399+2605C>A (n.399+2605C>A)
c.165+2605C>A (n.165+2605C>A)
c.806C>A (p.Pro269Gln)
c.812C>A (p.Pro271Gln)
c.524C>A (p.Pro175Gln)
c.*2524C>A (n.*2524C>A)
gnomAD v4
3g.15644662C>GCA351607266BTDc.746C>G (p.Pro249Arg)
c.399+2605C>G (n.399+2605C>G)
c.165+2605C>G (n.165+2605C>G)
c.806C>G (p.Pro269Arg)
c.812C>G (p.Pro271Arg)
c.524C>G (p.Pro175Arg)
c.*2524C>G (n.*2524C>G)
3g.15644662C>TCA351607267BTDc.746C>T (p.Pro249Leu)
c.399+2605C>T (n.399+2605C>T)
c.165+2605C>T (n.165+2605C>T)
c.806C>T (p.Pro269Leu)
c.812C>T (p.Pro271Leu)
c.524C>T (p.Pro175Leu)
c.*2524C>T (n.*2524C>T)
3g.15644663A>CCA432819366BTDc.747A>C (p.Pro249=)
c.399+2606A>C (n.399+2606A>C)
c.165+2606A>C (n.165+2606A>C)
c.807A>C (p.Pro269=)
c.813A>C (p.Pro271=)
c.525A>C (p.Pro175=)
c.*2525A>C (n.*2525A>C)
3g.15644663A>GCA432819365BTDc.747A>G (p.Pro249=)
c.399+2606A>G (n.399+2606A>G)
c.165+2606A>G (n.165+2606A>G)
c.807A>G (p.Pro269=)
c.813A>G (p.Pro271=)
c.525A>G (p.Pro175=)
c.*2525A>G (n.*2525A>G)
3g.15644663A>TCA432819364BTDc.747A>T (p.Pro249=)
c.399+2606A>T (n.399+2606A>T)
c.165+2606A>T (n.165+2606A>T)
c.807A>T (p.Pro269=)
c.813A>T (p.Pro271=)
c.525A>T (p.Pro175=)
c.*2525A>T (n.*2525A>T)
3g.15644664A=CA1347664185BTDc.748A= (p.Thr250=)
c.399+2607A= (n.399+2607A=)
c.165+2607A= (n.165+2607A=)
c.808A= (p.Thr270=)
c.814A= (p.Thr272=)
c.526A= (p.Thr176=)
c.*2526A= (n.*2526A=)
3g.15644664A>CCA351607268BTDc.748A>C (p.Thr250Pro)
c.399+2607A>C (n.399+2607A>C)
c.165+2607A>C (n.165+2607A>C)
c.808A>C (p.Thr270Pro)
c.814A>C (p.Thr272Pro)
c.526A>C (p.Thr176Pro)
c.*2526A>C (n.*2526A>C)
3g.15644664A>GCA2277380BTDc.748A>G (p.Thr250Ala)
c.399+2607A>G (n.399+2607A>G)
c.165+2607A>G (n.165+2607A>G)
c.808A>G (p.Thr270Ala)
c.814A>G (p.Thr272Ala)
c.526A>G (p.Thr176Ala)
c.*2526A>G (n.*2526A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15644664A>TCA351607269BTDc.748A>T (p.Thr250Ser)
c.399+2607A>T (n.399+2607A>T)
c.165+2607A>T (n.165+2607A>T)
c.808A>T (p.Thr270Ser)
c.814A>T (p.Thr272Ser)
c.526A>T (p.Thr176Ser)
c.*2526A>T (n.*2526A>T)
3g.15644665C>ACA351607270BTDc.749C>A (p.Thr250Asn)
c.399+2608C>A (n.399+2608C>A)
c.165+2608C>A (n.165+2608C>A)
c.809C>A (p.Thr270Asn)
c.815C>A (p.Thr272Asn)
c.527C>A (p.Thr176Asn)
c.*2527C>A (n.*2527C>A)
3g.15644665C=CA1347664188BTDc.749C= (p.Thr250=)
c.399+2608C= (n.399+2608C=)
c.165+2608C= (n.165+2608C=)
c.809C= (p.Thr270=)
c.815C= (p.Thr272=)
c.527C= (p.Thr176=)
c.*2527C= (n.*2527C=)
3g.15644665C>GCA351607272BTDc.749C>G (p.Thr250Ser)
c.399+2608C>G (n.399+2608C>G)
c.165+2608C>G (n.165+2608C>G)
c.809C>G (p.Thr270Ser)
c.815C>G (p.Thr272Ser)
c.527C>G (p.Thr176Ser)
c.*2527C>G (n.*2527C>G)
dbSNP
3g.15644665C>TCA351607271BTDc.749C>T (p.Thr250Ile)
c.399+2608C>T (n.399+2608C>T)
c.165+2608C>T (n.165+2608C>T)
c.809C>T (p.Thr270Ile)
c.815C>T (p.Thr272Ile)
c.527C>T (p.Thr176Ile)
c.*2527C>T (n.*2527C>T)
3g.15644666T>ACA70622166BTDc.750T>A (p.Thr250=)
c.399+2609T>A (n.399+2609T>A)
c.165+2609T>A (n.165+2609T>A)
c.810T>A (p.Thr270=)
c.816T>A (p.Thr272=)
c.528T>A (p.Thr176=)
c.*2528T>A (n.*2528T>A)
dbSNP gnomAD v3 gnomAD v4
3g.15644666T>CCA432819367BTDc.750T>C (p.Thr250=)
c.399+2609T>C (n.399+2609T>C)
c.165+2609T>C (n.165+2609T>C)
c.810T>C (p.Thr270=)
c.816T>C (p.Thr272=)
c.528T>C (p.Thr176=)
c.*2528T>C (n.*2528T>C)
3g.15644666T>GCA432819368BTDc.750T>G (p.Thr250=)
c.399+2609T>G (n.399+2609T>G)
c.165+2609T>G (n.165+2609T>G)
c.810T>G (p.Thr270=)
c.816T>G (p.Thr272=)
c.528T>G (p.Thr176=)
c.*2528T>G (n.*2528T>G)
3g.15644666T=CA1347664193BTDc.750T= (p.Thr250=)
c.399+2609T= (n.399+2609T=)
c.165+2609T= (n.165+2609T=)
c.810T= (p.Thr270=)
c.816T= (p.Thr272=)
c.528T= (p.Thr176=)
c.*2528T= (n.*2528T=)
3g.15644666_15644668delinsCTACA2580068524BTDc.750_752delinsCTA (p.Ala251Tyr)
c.399+2609_399+2611delinsCTA (n.399+2609_399+2611delinsCTA)
c.165+2609_165+2611delinsCTA (n.165+2609_165+2611delinsCTA)
c.810_812delinsCTA (p.Ala271Tyr)
c.816_818delinsCTA (p.Ala273Tyr)
c.528_530delinsCTA (p.Ala177Tyr)
c.*2528_*2530delinsCTA (n.*2528_*2530delinsCTA)
ClinVar
3g.15644667G>ACA351607273BTDc.751G>A (p.Ala251Thr)
c.399+2610G>A (n.399+2610G>A)
c.165+2610G>A (n.165+2610G>A)
c.811G>A (p.Ala271Thr)
c.817G>A (p.Ala273Thr)
c.529G>A (p.Ala177Thr)
c.*2529G>A (n.*2529G>A)
3g.15644667G>CCA351607274BTDc.751G>C (p.Ala251Pro)
c.399+2610G>C (n.399+2610G>C)
c.165+2610G>C (n.165+2610G>C)
c.811G>C (p.Ala271Pro)
c.817G>C (p.Ala273Pro)
c.529G>C (p.Ala177Pro)
c.*2529G>C (n.*2529G>C)
3g.15644667G=CA1347664198BTDc.751G= (p.Ala251=)
c.399+2610G= (n.399+2610G=)
c.165+2610G= (n.165+2610G=)
c.811G= (p.Ala271=)
c.817G= (p.Ala273=)
c.529G= (p.Ala177=)
c.*2529G= (n.*2529G=)
3g.15644667G>TCA2277381BTDc.751G>T (p.Ala251Ser)
c.399+2610G>T (n.399+2610G>T)
c.165+2610G>T (n.165+2610G>T)
c.811G>T (p.Ala271Ser)
c.817G>T (p.Ala273Ser)
c.529G>T (p.Ala177Ser)
c.*2529G>T (n.*2529G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15644668C>ACA351607277BTDc.752C>A (p.Ala251Asp)
c.399+2611C>A (n.399+2611C>A)
c.165+2611C>A (n.165+2611C>A)
c.812C>A (p.Ala271Asp)
c.818C>A (p.Ala273Asp)
c.530C>A (p.Ala177Asp)
c.*2530C>A (n.*2530C>A)
gnomAD v4
3g.15644668C>GCA351607276BTDc.752C>G (p.Ala251Gly)
c.399+2611C>G (n.399+2611C>G)
c.165+2611C>G (n.165+2611C>G)
c.812C>G (p.Ala271Gly)
c.818C>G (p.Ala273Gly)
c.530C>G (p.Ala177Gly)
c.*2530C>G (n.*2530C>G)
3g.15644668C>TCA351607275BTDc.752C>T (p.Ala251Val)
c.399+2611C>T (n.399+2611C>T)
c.165+2611C>T (n.165+2611C>T)
c.812C>T (p.Ala271Val)
c.818C>T (p.Ala273Val)
c.530C>T (p.Ala177Val)
c.*2530C>T (n.*2530C>T)
3g.15644669C>ACA432819372BTDc.753C>A (p.Ala251=)
c.399+2612C>A (n.399+2612C>A)
c.165+2612C>A (n.165+2612C>A)
c.813C>A (p.Ala271=)
c.819C>A (p.Ala273=)
c.531C>A (p.Ala177=)
c.*2531C>A (n.*2531C>A)
3g.15644669C>GCA432819373BTDc.753C>G (p.Ala251=)
c.399+2612C>G (n.399+2612C>G)
c.165+2612C>G (n.165+2612C>G)
c.813C>G (p.Ala271=)
c.819C>G (p.Ala273=)
c.531C>G (p.Ala177=)
c.*2531C>G (n.*2531C>G)
gnomAD v4
3g.15644669C>TCA432819374BTDc.753C>T (p.Ala251=)
c.399+2612C>T (n.399+2612C>T)
c.165+2612C>T (n.165+2612C>T)
c.813C>T (p.Ala271=)
c.819C>T (p.Ala273=)
c.531C>T (p.Ala177=)
c.*2531C>T (n.*2531C>T)
ClinVar gnomAD v4
3g.15644670T>ACA351607278BTDc.754T>A (p.Trp252Arg)
c.399+2613T>A (n.399+2613T>A)
c.165+2613T>A (n.165+2613T>A)
c.814T>A (p.Trp272Arg)
c.820T>A (p.Trp274Arg)
c.532T>A (p.Trp178Arg)
c.754T>A
c.*2532T>A (n.*2532T>A)
3g.15644670T>CCA351607279BTDc.754T>C (p.Trp252Arg)
c.399+2613T>C (n.399+2613T>C)
c.165+2613T>C (n.165+2613T>C)
c.814T>C (p.Trp272Arg)
c.820T>C (p.Trp274Arg)
c.532T>C (p.Trp178Arg)
c.754T>C
c.*2532T>C (n.*2532T>C)
gnomAD v4
3g.15644670T>GCA278262BTDc.754T>G (p.Trp252Gly)
c.399+2613T>G (n.399+2613T>G)
c.165+2613T>G (n.165+2613T>G)
c.814T>G (p.Trp272Gly)
c.820T>G (p.Trp274Gly)
c.532T>G (p.Trp178Gly)
c.754T>G
c.*2532T>G (n.*2532T>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.15644670T=CA1347664203BTDc.754T= (p.Trp252=)
c.399+2613T= (n.399+2613T=)
c.165+2613T= (n.165+2613T=)
c.814T= (p.Trp272=)
c.820T= (p.Trp274=)
c.532T= (p.Trp178=)
c.754T=
c.*2532T= (n.*2532T=)
3g.15644671G>ACA70622203BTDc.755G>A (p.Trp252Ter)
c.399+2614G>A (n.399+2614G>A)
c.165+2614G>A (n.165+2614G>A)
c.815G>A (p.Trp272Ter)
c.821G>A (p.Trp274Ter)
c.533G>A (p.Trp178Ter)
c.*2533G>A (n.*2533G>A)
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.15644671G>CCA351607280BTDc.755G>C (p.Trp252Ser)
c.399+2614G>C (n.399+2614G>C)
c.165+2614G>C (n.165+2614G>C)
c.815G>C (p.Trp272Ser)
c.821G>C (p.Trp274Ser)
c.533G>C (p.Trp178Ser)
c.*2533G>C (n.*2533G>C)
3g.15644671G=CA1347664211BTDc.755G= (p.Trp252=)
c.399+2614G= (n.399+2614G=)
c.165+2614G= (n.165+2614G=)
c.815G= (p.Trp272=)
c.821G= (p.Trp274=)
c.533G= (p.Trp178=)
c.*2533G= (n.*2533G=)
3g.15644671G>TCA351607281BTDc.755G>T (p.Trp252Leu)
c.399+2614G>T (n.399+2614G>T)
c.165+2614G>T (n.165+2614G>T)
c.815G>T (p.Trp272Leu)
c.821G>T (p.Trp274Leu)
c.533G>T (p.Trp178Leu)
c.*2533G>T (n.*2533G>T)
3g.15644672G>ACA351607282BTDc.756G>A (p.Trp252Ter)
c.399+2615G>A (n.399+2615G>A)
c.165+2615G>A (n.165+2615G>A)
c.816G>A (p.Trp272Ter)
c.822G>A (p.Trp274Ter)
c.534G>A (p.Trp178Ter)
c.*2534G>A (n.*2534G>A)
3g.15644672G>CCA351607283BTDc.756G>C (p.Trp252Cys)
c.399+2615G>C (n.399+2615G>C)
c.165+2615G>C (n.165+2615G>C)
c.816G>C (p.Trp272Cys)
c.822G>C (p.Trp274Cys)
c.534G>C (p.Trp178Cys)
c.*2534G>C (n.*2534G>C)
3g.15644672G>TCA351607284BTDc.756G>T (p.Trp252Cys)
c.399+2615G>T (n.399+2615G>T)
c.165+2615G>T (n.165+2615G>T)
c.816G>T (p.Trp272Cys)
c.822G>T (p.Trp274Cys)
c.534G>T (p.Trp178Cys)
c.*2534G>T (n.*2534G>T)
3g.15644673A>CCA351607285BTDc.757A>C (p.Met253Leu)
c.399+2616A>C (n.399+2616A>C)
c.165+2616A>C (n.165+2616A>C)
c.817A>C (p.Met273Leu)
c.823A>C (p.Met275Leu)
c.535A>C (p.Met179Leu)
c.*2535A>C (n.*2535A>C)
gnomAD v4
3g.15644673A>GCA351607286BTDc.757A>G (p.Met253Val)
c.399+2616A>G (n.399+2616A>G)
c.165+2616A>G (n.165+2616A>G)
c.817A>G (p.Met273Val)
c.823A>G (p.Met275Val)
c.535A>G (p.Met179Val)
c.*2535A>G (n.*2535A>G)
3g.15644673A>TCA351607287BTDc.757A>T (p.Met253Leu)
c.399+2616A>T (n.399+2616A>T)
c.165+2616A>T (n.165+2616A>T)
c.817A>T (p.Met273Leu)
c.823A>T (p.Met275Leu)
c.535A>T (p.Met179Leu)
c.*2535A>T (n.*2535A>T)
3g.15644674T>ACA351607288BTDc.758T>A (p.Met253Lys)
c.399+2617T>A (n.399+2617T>A)
c.165+2617T>A (n.165+2617T>A)
c.818T>A (p.Met273Lys)
c.824T>A (p.Met275Lys)
c.536T>A (p.Met179Lys)
c.*2536T>A (n.*2536T>A)
3g.15644674T>CCA351607289BTDc.758T>C (p.Met253Thr)
c.399+2617T>C (n.399+2617T>C)
c.165+2617T>C (n.165+2617T>C)
c.818T>C (p.Met273Thr)
c.824T>C (p.Met275Thr)
c.536T>C (p.Met179Thr)
c.*2536T>C (n.*2536T>C)
3g.15644674T>GCA351607290BTDc.758T>G (p.Met253Arg)
c.399+2617T>G (n.399+2617T>G)
c.165+2617T>G (n.165+2617T>G)
c.818T>G (p.Met273Arg)
c.824T>G (p.Met275Arg)
c.536T>G (p.Met179Arg)
c.*2536T>G (n.*2536T>G)
3g.15644675G>ACA351607293BTDc.759G>A (p.Met253Ile)
c.399+2618G>A (n.399+2618G>A)
c.165+2618G>A (n.165+2618G>A)
c.819G>A (p.Met273Ile)
c.825G>A (p.Met275Ile)
c.537G>A (p.Met179Ile)
c.*2537G>A (n.*2537G>A)
3g.15644675G>CCA351607291BTDc.759G>C (p.Met253Ile)
c.399+2618G>C (n.399+2618G>C)
c.165+2618G>C (n.165+2618G>C)
c.819G>C (p.Met273Ile)
c.825G>C (p.Met275Ile)
c.537G>C (p.Met179Ile)
c.*2537G>C (n.*2537G>C)
3g.15644675G>TCA351607292BTDc.759G>T (p.Met253Ile)
c.399+2618G>T (n.399+2618G>T)
c.165+2618G>T (n.165+2618G>T)
c.819G>T (p.Met273Ile)
c.825G>T (p.Met275Ile)
c.537G>T (p.Met179Ile)
c.*2537G>T (n.*2537G>T)
3g.15644676A=CA1347664222BTDc.760A= (p.Asn254=)
c.399+2619A= (n.399+2619A=)
c.165+2619A= (n.165+2619A=)
c.820A= (p.Asn274=)
c.826A= (p.Asn276=)
c.538A= (p.Asn180=)
c.*2538A= (n.*2538A=)
3g.15644676A>CCA351607294BTDc.760A>C (p.Asn254His)
c.399+2619A>C (n.399+2619A>C)
c.165+2619A>C (n.165+2619A>C)
c.820A>C (p.Asn274His)
c.826A>C (p.Asn276His)
c.538A>C (p.Asn180His)
c.*2538A>C (n.*2538A>C)
3g.15644676A>GCA351607295BTDc.760A>G (p.Asn254Asp)
c.399+2619A>G (n.399+2619A>G)
c.165+2619A>G (n.165+2619A>G)
c.820A>G (p.Asn274Asp)
c.826A>G (p.Asn276Asp)
c.538A>G (p.Asn180Asp)
c.*2538A>G (n.*2538A>G)
dbSNP gnomAD v3 gnomAD v4
3g.15644676A>TCA351607296BTDc.760A>T (p.Asn254Tyr)
c.399+2619A>T (n.399+2619A>T)
c.165+2619A>T (n.165+2619A>T)
c.820A>T (p.Asn274Tyr)
c.826A>T (p.Asn276Tyr)
c.538A>T (p.Asn180Tyr)
c.*2538A>T (n.*2538A>T)
3g.15644677A=CA1347664226BTDc.761A= (p.Asn254=)
c.399+2620A= (n.399+2620A=)
c.165+2620A= (n.165+2620A=)
c.821A= (p.Asn274=)
c.827A= (p.Asn276=)
c.539A= (p.Asn180=)
c.*2539A= (n.*2539A=)
3g.15644677A>CCA351607297BTDc.761A>C (p.Asn254Thr)
c.399+2620A>C (n.399+2620A>C)
c.165+2620A>C (n.165+2620A>C)
c.821A>C (p.Asn274Thr)
c.827A>C (p.Asn276Thr)
c.539A>C (p.Asn180Thr)
c.*2539A>C (n.*2539A>C)
3g.15644677A>GCA2277382BTDc.761A>G (p.Asn254Ser)
c.399+2620A>G (n.399+2620A>G)
c.165+2620A>G (n.165+2620A>G)
c.821A>G (p.Asn274Ser)
c.827A>G (p.Asn276Ser)
c.539A>G (p.Asn180Ser)
c.*2539A>G (n.*2539A>G)
dbSNP ExAC gnomAD v2
3g.15644677A>TCA351607298BTDc.761A>T (p.Asn254Ile)
c.399+2620A>T (n.399+2620A>T)
c.165+2620A>T (n.165+2620A>T)
c.821A>T (p.Asn274Ile)
c.827A>T (p.Asn276Ile)
c.539A>T (p.Asn180Ile)
c.*2539A>T (n.*2539A>T)
3g.15644678C>ACA351607299BTDc.762C>A (p.Asn254Lys)
c.399+2621C>A (n.399+2621C>A)
c.165+2621C>A (n.165+2621C>A)
c.822C>A (p.Asn274Lys)
c.828C>A (p.Asn276Lys)
c.540C>A (p.Asn180Lys)
c.*2540C>A (n.*2540C>A)
3g.15644678C=CA1347664227BTDc.762C= (p.Asn254=)
c.399+2621C= (n.399+2621C=)
c.165+2621C= (n.165+2621C=)
c.822C= (p.Asn274=)
c.828C= (p.Asn276=)
c.540C= (p.Asn180=)
c.*2540C= (n.*2540C=)
3g.15644678C>GCA351607300BTDc.762C>G (p.Asn254Lys)
c.399+2621C>G (n.399+2621C>G)
c.165+2621C>G (n.165+2621C>G)
c.822C>G (p.Asn274Lys)
c.828C>G (p.Asn276Lys)
c.540C>G (p.Asn180Lys)
c.*2540C>G (n.*2540C>G)
3g.15644678C>TCA432819378BTDc.762C>T (p.Asn254=)
c.399+2621C>T (n.399+2621C>T)
c.165+2621C>T (n.165+2621C>T)
c.822C>T (p.Asn274=)
c.828C>T (p.Asn276=)
c.540C>T (p.Asn180=)
c.*2540C>T (n.*2540C>T)
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.15644679C>ACA351607301BTDc.763C>A (p.Gln255Lys)
c.399+2622C>A (n.399+2622C>A)
c.165+2622C>A (n.165+2622C>A)
c.823C>A (p.Gln275Lys)
c.829C>A (p.Gln277Lys)
c.541C>A (p.Gln181Lys)
c.*2541C>A (n.*2541C>A)
3g.15644679C=CA1347664229BTDc.763C= (p.Gln255=)
c.399+2622C= (n.399+2622C=)
c.165+2622C= (n.165+2622C=)
c.823C= (p.Gln275=)
c.829C= (p.Gln277=)
c.541C= (p.Gln181=)
c.*2541C= (n.*2541C=)
3g.15644679C>GCA351607302BTDc.763C>G (p.Gln255Glu)
c.399+2622C>G (n.399+2622C>G)
c.165+2622C>G (n.165+2622C>G)
c.823C>G (p.Gln275Glu)
c.829C>G (p.Gln277Glu)
c.541C>G (p.Gln181Glu)
c.*2541C>G (n.*2541C>G)
3g.15644679C>TCA351607303BTDc.763C>T (p.Gln255Ter)
c.399+2622C>T (n.399+2622C>T)
c.165+2622C>T (n.165+2622C>T)
c.823C>T (p.Gln275Ter)
c.829C>T (p.Gln277Ter)
c.541C>T (p.Gln181Ter)
c.*2541C>T (n.*2541C>T)
gnomAD v4
3g.15644680A>CCA351607306BTDc.764A>C (p.Gln255Pro)
c.399+2623A>C (n.399+2623A>C)
c.165+2623A>C (n.165+2623A>C)
c.824A>C (p.Gln275Pro)
c.830A>C (p.Gln277Pro)
c.542A>C (p.Gln181Pro)
c.*2542A>C (n.*2542A>C)
3g.15644680A>GCA351607305BTDc.764A>G (p.Gln255Arg)
c.399+2623A>G (n.399+2623A>G)
c.165+2623A>G (n.165+2623A>G)
c.824A>G (p.Gln275Arg)
c.830A>G (p.Gln277Arg)
c.542A>G (p.Gln181Arg)
c.*2542A>G (n.*2542A>G)
3g.15644680A>TCA351607304BTDc.764A>T (p.Gln255Leu)
c.399+2623A>T (n.399+2623A>T)
c.165+2623A>T (n.165+2623A>T)
c.824A>T (p.Gln275Leu)
c.830A>T (p.Gln277Leu)
c.542A>T (p.Gln181Leu)
c.*2542A>T (n.*2542A>T)
gnomAD v4
3g.15644680dupCA2277383BTDc.764dup (p.Leu256AlafsTer8)
c.399+2623dup (n.399+2623dup)
c.165+2623dup (n.165+2623dup)
c.824dup (p.Leu276AlafsTer8)
c.830dup (p.Leu278AlafsTer8)
c.542dup (p.Leu182AlafsTer8)
c.*2542dup (n.*2542dup)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.15644681G>ACA432819382BTDc.765G>A (p.Gln255=)
c.399+2624G>A (n.399+2624G>A)
c.165+2624G>A (n.165+2624G>A)
c.825G>A (p.Gln275=)
c.831G>A (p.Gln277=)
c.543G>A (p.Gln181=)
c.*2543G>A (n.*2543G>A)
3g.15644681G>CCA70622231BTDc.765G>C (p.Gln255His)
c.399+2624G>C (n.399+2624G>C)
c.165+2624G>C (n.165+2624G>C)
c.825G>C (p.Gln275His)
c.831G>C (p.Gln277His)
c.543G>C (p.Gln181His)
c.*2543G>C (n.*2543G>C)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.15644681G=CA1347664238BTDc.765G= (p.Gln255=)
c.399+2624G= (n.399+2624G=)
c.165+2624G= (n.165+2624G=)
c.825G= (p.Gln275=)
c.831G= (p.Gln277=)
c.543G= (p.Gln181=)
c.*2543G= (n.*2543G=)
3g.15644681G>TCA351607307BTDc.765G>T (p.Gln255His)
c.399+2624G>T (n.399+2624G>T)
c.165+2624G>T (n.165+2624G>T)
c.825G>T (p.Gln275His)
c.831G>T (p.Gln277His)
c.543G>T (p.Gln181His)
c.*2543G>T (n.*2543G>T)
COSMIC
3g.15644682C>ACA351607308BTDc.766C>A (p.Leu256Ile)
c.399+2625C>A (n.399+2625C>A)
c.165+2625C>A (n.165+2625C>A)
c.826C>A (p.Leu276Ile)
c.832C>A (p.Leu278Ile)
c.544C>A (p.Leu182Ile)
c.*2544C>A (n.*2544C>A)
3g.15644682C>GCA351607309BTDc.766C>G (p.Leu256Val)
c.399+2625C>G (n.399+2625C>G)
c.165+2625C>G (n.165+2625C>G)
c.826C>G (p.Leu276Val)
c.832C>G (p.Leu278Val)
c.544C>G (p.Leu182Val)
c.*2544C>G (n.*2544C>G)
3g.15644682C>TCA351607310BTDc.766C>T (p.Leu256Phe)
c.399+2625C>T (n.399+2625C>T)
c.165+2625C>T (n.165+2625C>T)
c.826C>T (p.Leu276Phe)
c.832C>T (p.Leu278Phe)
c.544C>T (p.Leu182Phe)
c.*2544C>T (n.*2544C>T)
3g.15644683T>ACA351607311BTDc.767T>A (p.Leu256His)
c.399+2626T>A (n.399+2626T>A)
c.165+2626T>A (n.165+2626T>A)
c.827T>A (p.Leu276His)
c.833T>A (p.Leu278His)
c.545T>A (p.Leu182His)
c.*2545T>A (n.*2545T>A)
3g.15644683T>CCA351607312BTDc.767T>C (p.Leu256Pro)
c.399+2626T>C (n.399+2626T>C)
c.165+2626T>C (n.165+2626T>C)
c.827T>C (p.Leu276Pro)
c.833T>C (p.Leu278Pro)
c.545T>C (p.Leu182Pro)
c.*2545T>C (n.*2545T>C)
3g.15644683T>GCA351607313BTDc.767T>G (p.Leu256Arg)
c.399+2626T>G (n.399+2626T>G)
c.165+2626T>G (n.165+2626T>G)
c.827T>G (p.Leu276Arg)
c.833T>G (p.Leu278Arg)
c.545T>G (p.Leu182Arg)
c.*2545T>G (n.*2545T>G)
3g.15644684C>ACA432819386BTDc.768C>A (p.Leu256=)
c.399+2627C>A (n.399+2627C>A)
c.165+2627C>A (n.165+2627C>A)
c.828C>A (p.Leu276=)
c.834C>A (p.Leu278=)
c.546C>A (p.Leu182=)
c.*2546C>A (n.*2546C>A)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.15644684C=CA1347664244BTDc.768C= (p.Leu256=)
c.399+2627C= (n.399+2627C=)
c.165+2627C= (n.165+2627C=)
c.828C= (p.Leu276=)
c.834C= (p.Leu278=)
c.546C= (p.Leu182=)
c.*2546C= (n.*2546C=)
3g.15644684C>GCA2277384BTDc.768C>G (p.Leu256=)
c.399+2627C>G (n.399+2627C>G)
c.165+2627C>G (n.165+2627C>G)
c.828C>G (p.Leu276=)
c.834C>G (p.Leu278=)
c.546C>G (p.Leu182=)
c.*2546C>G (n.*2546C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.15644684C>TCA432819389BTDc.768C>T (p.Leu256=)
c.399+2627C>T (n.399+2627C>T)
c.165+2627C>T (n.165+2627C>T)
c.828C>T (p.Leu276=)
c.834C>T (p.Leu278=)
c.546C>T (p.Leu182=)
c.*2546C>T (n.*2546C>T)
gnomAD v4
3g.15644685C>ACA351607314BTDc.769C>A (p.Pro257Thr)
c.399+2628C>A (n.399+2628C>A)
c.165+2628C>A (n.165+2628C>A)
c.829C>A (p.Pro277Thr)
c.835C>A (p.Pro279Thr)
c.547C>A (p.Pro183Thr)
c.*2547C>A (n.*2547C>A)
3g.15644685C>GCA351607315BTDc.769C>G (p.Pro257Ala)
c.399+2628C>G (n.399+2628C>G)
c.165+2628C>G (n.165+2628C>G)
c.829C>G (p.Pro277Ala)
c.835C>G (p.Pro279Ala)
c.547C>G (p.Pro183Ala)
c.*2547C>G (n.*2547C>G)
3g.15644685C>TCA351607316BTDc.769C>T (p.Pro257Ser)
c.399+2628C>T (n.399+2628C>T)
c.165+2628C>T (n.165+2628C>T)
c.829C>T (p.Pro277Ser)
c.835C>T (p.Pro279Ser)
c.547C>T (p.Pro183Ser)
c.*2547C>T (n.*2547C>T)
gnomAD v4
3g.15644686C>ACA70622251BTDc.770C>A (p.Pro257Gln)
c.399+2629C>A (n.399+2629C>A)
c.165+2629C>A (n.165+2629C>A)
c.830C>A (p.Pro277Gln)
c.836C>A (p.Pro279Gln)
c.548C>A (p.Pro183Gln)
c.*2548C>A (n.*2548C>A)
dbSNP
3g.15644686C=CA1347664250BTDc.770C= (p.Pro257=)
c.399+2629C= (n.399+2629C=)
c.165+2629C= (n.165+2629C=)
c.830C= (p.Pro277=)
c.836C= (p.Pro279=)
c.548C= (p.Pro183=)
c.*2548C= (n.*2548C=)
3g.15644686C>GCA351607317BTDc.770C>G (p.Pro257Arg)
c.399+2629C>G (n.399+2629C>G)
c.165+2629C>G (n.165+2629C>G)
c.830C>G (p.Pro277Arg)
c.836C>G (p.Pro279Arg)
c.548C>G (p.Pro183Arg)
c.*2548C>G (n.*2548C>G)
3g.15644686C>TCA220335BTDc.770C>T (p.Pro257Leu)
c.399+2629C>T (n.399+2629C>T)
c.165+2629C>T (n.165+2629C>T)
c.830C>T (p.Pro277Leu)
c.836C>T (p.Pro279Leu)
c.548C>T (p.Pro183Leu)
c.*2548C>T (n.*2548C>T)
ClinVar dbSNP gnomAD v4
3g.15644687A>CCA432819391BTDc.771A>C (p.Pro257=)
c.399+2630A>C (n.399+2630A>C)
c.165+2630A>C (n.165+2630A>C)
c.831A>C (p.Pro277=)
c.837A>C (p.Pro279=)
c.549A>C (p.Pro183=)
c.*2549A>C (n.*2549A>C)
3g.15644687A>GCA432819392BTDc.771A>G (p.Pro257=)
c.399+2630A>G (n.399+2630A>G)
c.165+2630A>G (n.165+2630A>G)
c.831A>G (p.Pro277=)
c.837A>G (p.Pro279=)
c.549A>G (p.Pro183=)
c.*2549A>G (n.*2549A>G)
gnomAD v4
3g.15644687A>TCA432819394BTDc.771A>T (p.Pro257=)
c.399+2630A>T (n.399+2630A>T)
c.165+2630A>T (n.165+2630A>T)
c.831A>T (p.Pro277=)
c.837A>T (p.Pro279=)
c.549A>T (p.Pro183=)
c.*2549A>T (n.*2549A>T)
3g.15644688C>ACA351607318BTDc.772C>A (p.Leu258Ile)
c.399+2631C>A (n.399+2631C>A)
c.165+2631C>A (n.165+2631C>A)
c.832C>A (p.Leu278Ile)
c.838C>A (p.Leu280Ile)
c.550C>A (p.Leu184Ile)
c.*2550C>A (n.*2550C>A)
3g.15644688C=CA1347664257BTDc.772C= (p.Leu258=)
c.399+2631C= (n.399+2631C=)
c.165+2631C= (n.165+2631C=)
c.832C= (p.Leu278=)
c.838C= (p.Leu280=)
c.550C= (p.Leu184=)
c.*2550C= (n.*2550C=)
3g.15644688C>GCA278264BTDc.772C>G (p.Leu258Val)
c.399+2631C>G (n.399+2631C>G)
c.165+2631C>G (n.165+2631C>G)
c.832C>G (p.Leu278Val)
c.838C>G (p.Leu280Val)
c.550C>G (p.Leu184Val)
c.*2550C>G (n.*2550C>G)
ClinVar dbSNP gnomAD v4
3g.15644688C>TCA351607319BTDc.772C>T (p.Leu258Phe)
c.399+2631C>T (n.399+2631C>T)
c.165+2631C>T (n.165+2631C>T)
c.832C>T (p.Leu278Phe)
c.838C>T (p.Leu280Phe)
c.550C>T (p.Leu184Phe)
c.*2550C>T (n.*2550C>T)
dbSNP
3g.15644689T>ACA351607320BTDc.773T>A (p.Leu258His)
c.399+2632T>A (n.399+2632T>A)
c.165+2632T>A (n.165+2632T>A)
c.833T>A (p.Leu278His)
c.839T>A (p.Leu280His)
c.551T>A (p.Leu184His)
c.*2551T>A (n.*2551T>A)
3g.15644689T>CCA278266BTDc.773T>C (p.Leu258Pro)
c.399+2632T>C (n.399+2632T>C)
c.165+2632T>C (n.165+2632T>C)
c.833T>C (p.Leu278Pro)
c.839T>C (p.Leu280Pro)
c.551T>C (p.Leu184Pro)
c.*2551T>C (n.*2551T>C)
ClinVar dbSNP gnomAD v4
3g.15644689T>GCA351607321BTDc.773T>G (p.Leu258Arg)
c.399+2632T>G (n.399+2632T>G)
c.165+2632T>G (n.165+2632T>G)
c.833T>G (p.Leu278Arg)
c.839T>G (p.Leu280Arg)
c.551T>G (p.Leu184Arg)
c.*2551T>G (n.*2551T>G)
3g.15644689T=CA1347664263BTDc.773T= (p.Leu258=)
c.399+2632T= (n.399+2632T=)
c.165+2632T= (n.165+2632T=)
c.833T= (p.Leu278=)
c.839T= (p.Leu280=)
c.551T= (p.Leu184=)
c.*2551T= (n.*2551T=)
3g.15644690C>ACA432819395BTDc.774C>A (p.Leu258=)
c.399+2633C>A (n.399+2633C>A)
c.165+2633C>A (n.165+2633C>A)
c.834C>A (p.Leu278=)
c.840C>A (p.Leu280=)
c.552C>A (p.Leu184=)
c.*2552C>A (n.*2552C>A)
3g.15644690C>GCA432819397BTDc.774C>G (p.Leu258=)
c.399+2633C>G (n.399+2633C>G)
c.165+2633C>G (n.165+2633C>G)
c.834C>G (p.Leu278=)
c.840C>G (p.Leu280=)
c.552C>G (p.Leu184=)
c.*2552C>G (n.*2552C>G)
3g.15644690C>TCA432819399BTDc.774C>T (p.Leu258=)
c.399+2633C>T (n.399+2633C>T)
c.165+2633C>T (n.165+2633C>T)
c.834C>T (p.Leu278=)
c.840C>T (p.Leu280=)
c.552C>T (p.Leu184=)
c.*2552C>T (n.*2552C>T)
3g.15644691T>ACA351607322BTDc.775T>A (p.Leu259Met)
c.399+2634T>A (n.399+2634T>A)
c.165+2634T>A (n.165+2634T>A)
c.835T>A (p.Leu279Met)
c.841T>A (p.Leu281Met)
c.553T>A (p.Leu185Met)
c.*2553T>A (n.*2553T>A)
3g.15644691T>CCA432819400BTDc.775T>C (p.Leu259=)
c.399+2634T>C (n.399+2634T>C)
c.165+2634T>C (n.165+2634T>C)
c.835T>C (p.Leu279=)
c.841T>C (p.Leu281=)
c.553T>C (p.Leu185=)
c.*2553T>C (n.*2553T>C)
3g.15644691T>GCA351607323BTDc.775T>G (p.Leu259Val)
c.399+2634T>G (n.399+2634T>G)
c.165+2634T>G (n.165+2634T>G)
c.835T>G (p.Leu279Val)
c.841T>G (p.Leu281Val)
c.553T>G (p.Leu185Val)
c.*2553T>G (n.*2553T>G)
3g.15644692T>ACA351607324BTDc.776T>A (p.Leu259Ter)
c.399+2635T>A (n.399+2635T>A)
c.165+2635T>A (n.165+2635T>A)
c.836T>A (p.Leu279Ter)
c.842T>A (p.Leu281Ter)
c.554T>A (p.Leu185Ter)
c.*2554T>A (n.*2554T>A)
dbSNP
3g.15644692T>CCA351607325BTDc.776T>C (p.Leu259Ser)
c.399+2635T>C (n.399+2635T>C)
c.165+2635T>C (n.165+2635T>C)
c.836T>C (p.Leu279Ser)
c.842T>C (p.Leu281Ser)
c.554T>C (p.Leu185Ser)
c.*2554T>C (n.*2554T>C)
3g.15644692T>GCA278268BTDc.776T>G (p.Leu259Trp)
c.399+2635T>G (n.399+2635T>G)
c.165+2635T>G (n.165+2635T>G)
c.836T>G (p.Leu279Trp)
c.842T>G (p.Leu281Trp)
c.554T>G (p.Leu185Trp)
c.*2554T>G (n.*2554T>G)
dbSNP
3g.15644692T=CA1347664269BTDc.776T= (p.Leu259=)
c.399+2635T= (n.399+2635T=)
c.165+2635T= (n.165+2635T=)
c.836T= (p.Leu279=)
c.842T= (p.Leu281=)
c.554T= (p.Leu185=)
c.*2554T= (n.*2554T=)
3g.15644693G>ACA432819402BTDc.777G>A (p.Leu259=)
c.399+2636G>A (n.399+2636G>A)
c.165+2636G>A (n.165+2636G>A)
c.837G>A (p.Leu279=)
c.843G>A (p.Leu281=)
c.555G>A (p.Leu185=)
c.*2555G>A (n.*2555G>A)
3g.15644693G>CCA351607326BTDc.777G>C (p.Leu259Phe)
c.399+2636G>C (n.399+2636G>C)
c.165+2636G>C (n.165+2636G>C)
c.837G>C (p.Leu279Phe)
c.843G>C (p.Leu281Phe)
c.555G>C (p.Leu185Phe)
c.*2555G>C (n.*2555G>C)
3g.15644693G>TCA351607327BTDc.777G>T (p.Leu259Phe)
c.399+2636G>T (n.399+2636G>T)
c.165+2636G>T (n.165+2636G>T)
c.837G>T (p.Leu279Phe)
c.843G>T (p.Leu281Phe)
c.555G>T (p.Leu185Phe)
c.*2555G>T (n.*2555G>T)
3g.15644694G>ACA351607330BTDc.778G>A (p.Ala260Thr)
c.399+2637G>A (n.399+2637G>A)
c.165+2637G>A (n.165+2637G>A)
c.838G>A (p.Ala280Thr)
c.844G>A (p.Ala282Thr)
c.556G>A (p.Ala186Thr)
c.*2556G>A (n.*2556G>A)
3g.15644694G>CCA351607329BTDc.778G>C (p.Ala260Pro)
c.399+2637G>C (n.399+2637G>C)
c.165+2637G>C (n.165+2637G>C)
c.838G>C (p.Ala280Pro)
c.844G>C (p.Ala282Pro)
c.556G>C (p.Ala186Pro)
c.*2556G>C (n.*2556G>C)
3g.15644694G>TCA351607328BTDc.778G>T (p.Ala260Ser)
c.399+2637G>T (n.399+2637G>T)
c.165+2637G>T (n.165+2637G>T)
c.838G>T (p.Ala280Ser)
c.844G>T (p.Ala282Ser)
c.556G>T (p.Ala186Ser)
c.*2556G>T (n.*2556G>T)
3g.15644695C>ACA351607331BTDc.779C>A (p.Ala260Glu)
c.399+2638C>A (n.399+2638C>A)
c.165+2638C>A (n.165+2638C>A)
c.839C>A (p.Ala280Glu)
c.845C>A (p.Ala282Glu)
c.557C>A (p.Ala186Glu)
c.*2557C>A (n.*2557C>A)
3g.15644695C>GCA351607333BTDc.779C>G (p.Ala260Gly)
c.399+2638C>G (n.399+2638C>G)
c.165+2638C>G (n.165+2638C>G)
c.839C>G (p.Ala280Gly)
c.845C>G (p.Ala282Gly)
c.557C>G (p.Ala186Gly)
c.*2557C>G (n.*2557C>G)
3g.15644695C>TCA351607332BTDc.779C>T (p.Ala260Val)
c.399+2638C>T (n.399+2638C>T)
c.165+2638C>T (n.165+2638C>T)
c.839C>T (p.Ala280Val)
c.845C>T (p.Ala282Val)
c.557C>T (p.Ala186Val)
c.*2557C>T (n.*2557C>T)
gnomAD v4
3g.15644696A>CCA432819404BTDc.780A>C (p.Ala260=)
c.399+2639A>C (n.399+2639A>C)
c.165+2639A>C (n.165+2639A>C)
c.840A>C (p.Ala280=)
c.846A>C (p.Ala282=)
c.558A>C (p.Ala186=)
c.*2558A>C (n.*2558A>C)
3g.15644696A>GCA432819406BTDc.780A>G (p.Ala260=)
c.399+2639A>G (n.399+2639A>G)
c.165+2639A>G (n.165+2639A>G)
c.840A>G (p.Ala280=)
c.846A>G (p.Ala282=)
c.558A>G (p.Ala186=)
c.*2558A>G (n.*2558A>G)
3g.15644696A>TCA432819408BTDc.780A>T (p.Ala260=)
c.399+2639A>T (n.399+2639A>T)
c.165+2639A>T (n.165+2639A>T)
c.840A>T (p.Ala280=)
c.846A>T (p.Ala282=)
c.558A>T (p.Ala186=)
c.*2558A>T (n.*2558A>T)
3g.15644697G>ACA351607334BTDc.781G>A (p.Ala261Thr)
c.399+2640G>A (n.399+2640G>A)
c.165+2640G>A (n.165+2640G>A)
c.841G>A (p.Ala281Thr)
c.847G>A (p.Ala283Thr)
c.559G>A (p.Ala187Thr)
c.*2559G>A (n.*2559G>A)
3g.15644697G>CCA351607335BTDc.781G>C (p.Ala261Pro)
c.399+2640G>C (n.399+2640G>C)
c.165+2640G>C (n.165+2640G>C)
c.841G>C (p.Ala281Pro)
c.847G>C (p.Ala283Pro)
c.559G>C (p.Ala187Pro)
c.*2559G>C (n.*2559G>C)
3g.15644697G>TCA351607336BTDc.781G>T (p.Ala261Ser)
c.399+2640G>T (n.399+2640G>T)
c.165+2640G>T (n.165+2640G>T)
c.841G>T (p.Ala281Ser)
c.847G>T (p.Ala283Ser)
c.559G>T (p.Ala187Ser)
c.*2559G>T (n.*2559G>T)
3g.15644698C>ACA351607337BTDc.782C>A (p.Ala261Glu)
c.399+2641C>A (n.399+2641C>A)
c.165+2641C>A (n.165+2641C>A)
c.842C>A (p.Ala281Glu)
c.848C>A (p.Ala283Glu)
c.560C>A (p.Ala187Glu)
c.*2560C>A (n.*2560C>A)
3g.15644698C=CA1347664276BTDc.782C= (p.Ala261=)
c.399+2641C= (n.399+2641C=)
c.165+2641C= (n.165+2641C=)
c.842C= (p.Ala281=)
c.848C= (p.Ala283=)
c.560C= (p.Ala187=)
c.*2560C= (n.*2560C=)
3g.15644698C>GCA351607338BTDc.782C>G (p.Ala261Gly)
c.399+2641C>G (n.399+2641C>G)
c.165+2641C>G (n.165+2641C>G)
c.842C>G (p.Ala281Gly)
c.848C>G (p.Ala283Gly)
c.560C>G (p.Ala187Gly)
c.*2560C>G (n.*2560C>G)
dbSNP
3g.15644698C>TCA351607339BTDc.782C>T (p.Ala261Val)
c.399+2641C>T (n.399+2641C>T)
c.165+2641C>T (n.165+2641C>T)
c.842C>T (p.Ala281Val)
c.848C>T (p.Ala283Val)
c.560C>T (p.Ala187Val)
c.*2560C>T (n.*2560C>T)
dbSNP
3g.15644699A>CCA432819413BTDc.783A>C (p.Ala261=)
c.399+2642A>C (n.399+2642A>C)
c.165+2642A>C (n.165+2642A>C)
c.843A>C (p.Ala281=)
c.849A>C (p.Ala283=)
c.561A>C (p.Ala187=)
c.*2561A>C (n.*2561A>C)
3g.15644699A>GCA432819415BTDc.783A>G (p.Ala261=)
c.399+2642A>G (n.399+2642A>G)
c.165+2642A>G (n.165+2642A>G)
c.843A>G (p.Ala281=)
c.849A>G (p.Ala283=)
c.561A>G (p.Ala187=)
c.*2561A>G (n.*2561A>G)
3g.15644699A>TCA432819416BTDc.783A>T (p.Ala261=)
c.399+2642A>T (n.399+2642A>T)
c.165+2642A>T (n.165+2642A>T)
c.843A>T (p.Ala281=)
c.849A>T (p.Ala283=)
c.561A>T (p.Ala187=)
c.*2561A>T (n.*2561A>T)
3g.15644700A=CA1347664282BTDc.784A= (p.Ile262=)
c.399+2643A= (n.399+2643A=)
c.165+2643A= (n.165+2643A=)
c.844A= (p.Ile282=)
c.850A= (p.Ile284=)
c.562A= (p.Ile188=)
c.*2562A= (n.*2562A=)
3g.15644700A>CCA351607340BTDc.784A>C (p.Ile262Leu)
c.399+2643A>C (n.399+2643A>C)
c.165+2643A>C (n.165+2643A>C)
c.844A>C (p.Ile282Leu)
c.850A>C (p.Ile284Leu)
c.562A>C (p.Ile188Leu)
c.*2562A>C (n.*2562A>C)
3g.15644700A>GCA70622257BTDc.784A>G (p.Ile262Val)
c.399+2643A>G (n.399+2643A>G)
c.165+2643A>G (n.165+2643A>G)
c.844A>G (p.Ile282Val)
c.850A>G (p.Ile284Val)
c.562A>G (p.Ile188Val)
c.*2562A>G (n.*2562A>G)
dbSNP gnomAD v3 gnomAD v4
3g.15644700A>TCA351607341BTDc.784A>T (p.Ile262Phe)
c.399+2643A>T (n.399+2643A>T)
c.165+2643A>T (n.165+2643A>T)
c.844A>T (p.Ile282Phe)
c.850A>T (p.Ile284Phe)
c.562A>T (p.Ile188Phe)
c.*2562A>T (n.*2562A>T)
ClinVar dbSNP
3g.15644701T>ACA351607342BTDc.785T>A (p.Ile262Asn)
c.399+2644T>A (n.399+2644T>A)
c.165+2644T>A (n.165+2644T>A)
c.845T>A (p.Ile282Asn)
c.851T>A (p.Ile284Asn)
c.563T>A (p.Ile188Asn)
c.*2563T>A (n.*2563T>A)
3g.15644701T>CCA351607343BTDc.785T>C (p.Ile262Thr)
c.399+2644T>C (n.399+2644T>C)
c.165+2644T>C (n.165+2644T>C)
c.845T>C (p.Ile282Thr)
c.851T>C (p.Ile284Thr)
c.563T>C (p.Ile188Thr)
c.*2563T>C (n.*2563T>C)
dbSNP gnomAD v4
3g.15644701T>GCA351607344BTDc.785T>G (p.Ile262Ser)
c.399+2644T>G (n.399+2644T>G)
c.165+2644T>G (n.165+2644T>G)
c.845T>G (p.Ile282Ser)
c.851T>G (p.Ile284Ser)
c.563T>G (p.Ile188Ser)
c.*2563T>G (n.*2563T>G)
3g.15644701T=CA1347664285BTDc.785T= (p.Ile262=)
c.399+2644T= (n.399+2644T=)
c.165+2644T= (n.165+2644T=)
c.845T= (p.Ile282=)
c.851T= (p.Ile284=)
c.563T= (p.Ile188=)
c.*2563T= (n.*2563T=)
3g.15644702T>ACA432819419BTDc.786T>A (p.Ile262=)
c.399+2645T>A (n.399+2645T>A)
c.165+2645T>A (n.165+2645T>A)
c.846T>A (p.Ile282=)
c.852T>A (p.Ile284=)
c.564T>A (p.Ile188=)
c.*2564T>A (n.*2564T>A)
3g.15644702T>CCA432819420BTDc.786T>C (p.Ile262=)
c.399+2645T>C (n.399+2645T>C)
c.165+2645T>C (n.165+2645T>C)
c.846T>C (p.Ile282=)
c.852T>C (p.Ile284=)
c.564T>C (p.Ile188=)
c.*2564T>C (n.*2564T>C)
3g.15644702T>GCA351607345BTDc.786T>G (p.Ile262Met)
c.399+2645T>G (n.399+2645T>G)
c.165+2645T>G (n.165+2645T>G)
c.846T>G (p.Ile282Met)
c.852T>G (p.Ile284Met)
c.564T>G (p.Ile188Met)
c.*2564T>G (n.*2564T>G)
3g.15644703G>ACA351607346BTDc.787G>A (p.Glu263Lys)
c.399+2646G>A (n.399+2646G>A)
c.165+2646G>A (n.165+2646G>A)
c.847G>A (p.Glu283Lys)
c.853G>A (p.Glu285Lys)
c.565G>A (p.Glu189Lys)
c.*2565G>A (n.*2565G>A)
3g.15644703G>CCA351607348BTDc.787G>C (p.Glu263Gln)
c.399+2646G>C (n.399+2646G>C)
c.165+2646G>C (n.165+2646G>C)
c.847G>C (p.Glu283Gln)
c.853G>C (p.Glu285Gln)
c.565G>C (p.Glu189Gln)
c.*2565G>C (n.*2565G>C)
3g.15644703G>TCA351607347BTDc.787G>T (p.Glu263Ter)
c.399+2646G>T (n.399+2646G>T)
c.165+2646G>T (n.165+2646G>T)
c.847G>T (p.Glu283Ter)
c.853G>T (p.Glu285Ter)
c.565G>T (p.Glu189Ter)
c.*2565G>T (n.*2565G>T)
3g.15644704A>CCA351607349BTDc.788A>C (p.Glu263Ala)
c.399+2647A>C (n.399+2647A>C)
c.165+2647A>C (n.165+2647A>C)
c.848A>C (p.Glu283Ala)
c.854A>C (p.Glu285Ala)
c.566A>C (p.Glu189Ala)
c.*2566A>C (n.*2566A>C)
3g.15644704A>GCA351607350BTDc.788A>G (p.Glu263Gly)
c.399+2647A>G (n.399+2647A>G)
c.165+2647A>G (n.165+2647A>G)
c.848A>G (p.Glu283Gly)
c.854A>G (p.Glu285Gly)
c.566A>G (p.Glu189Gly)
c.*2566A>G (n.*2566A>G)
3g.15644704A>TCA351607351BTDc.788A>T (p.Glu263Val)
c.399+2647A>T (n.399+2647A>T)
c.165+2647A>T (n.165+2647A>T)
c.848A>T (p.Glu283Val)
c.854A>T (p.Glu285Val)
c.566A>T (p.Glu189Val)
c.*2566A>T (n.*2566A>T)
3g.15644705G>ACA432819428BTDc.789G>A (p.Glu263=)
c.399+2648G>A (n.399+2648G>A)
c.165+2648G>A (n.165+2648G>A)
c.849G>A (p.Glu283=)
c.855G>A (p.Glu285=)
c.567G>A (p.Glu189=)
c.*2567G>A (n.*2567G>A)
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.15644705G>CCA351607352BTDc.789G>C (p.Glu263Asp)
c.399+2648G>C (n.399+2648G>C)
c.165+2648G>C (n.165+2648G>C)
c.849G>C (p.Glu283Asp)
c.855G>C (p.Glu285Asp)
c.567G>C (p.Glu189Asp)
c.*2567G>C (n.*2567G>C)
3g.15644705G=CA1347664291BTDc.789G= (p.Glu263=)
c.399+2648G= (n.399+2648G=)
c.165+2648G= (n.165+2648G=)
c.849G= (p.Glu283=)
c.855G= (p.Glu285=)
c.567G= (p.Glu189=)
c.*2567G= (n.*2567G=)
3g.15644705G>TCA351607353BTDc.789G>T (p.Glu263Asp)
c.399+2648G>T (n.399+2648G>T)
c.165+2648G>T (n.165+2648G>T)
c.849G>T (p.Glu283Asp)
c.855G>T (p.Glu285Asp)
c.567G>T (p.Glu189Asp)
c.*2567G>T (n.*2567G>T)
3g.15644706A>CCA351607354BTDc.790A>C (p.Ile264Leu)
c.399+2649A>C (n.399+2649A>C)
c.165+2649A>C (n.165+2649A>C)
c.850A>C (p.Ile284Leu)
c.856A>C (p.Ile286Leu)
c.568A>C (p.Ile190Leu)
c.*2568A>C (n.*2568A>C)
3g.15644706A>GCA351607355BTDc.790A>G (p.Ile264Val)
c.399+2649A>G (n.399+2649A>G)
c.165+2649A>G (n.165+2649A>G)
c.850A>G (p.Ile284Val)
c.856A>G (p.Ile286Val)
c.568A>G (p.Ile190Val)
c.*2568A>G (n.*2568A>G)
gnomAD v4
3g.15644706A>TCA351607356BTDc.790A>T (p.Ile264Phe)
c.399+2649A>T (n.399+2649A>T)
c.165+2649A>T (n.165+2649A>T)
c.850A>T (p.Ile284Phe)
c.856A>T (p.Ile286Phe)
c.568A>T (p.Ile190Phe)
c.*2568A>T (n.*2568A>T)
3g.15644707T>ACA351607357BTDc.791T>A (p.Ile264Asn)
c.399+2650T>A (n.399+2650T>A)
c.165+2650T>A (n.165+2650T>A)
c.851T>A (p.Ile284Asn)
c.857T>A (p.Ile286Asn)
c.569T>A (p.Ile190Asn)
c.*2569T>A (n.*2569T>A)
3g.15644707T>CCA351607358BTDc.791T>C (p.Ile264Thr)
c.399+2650T>C (n.399+2650T>C)
c.165+2650T>C (n.165+2650T>C)
c.851T>C (p.Ile284Thr)
c.857T>C (p.Ile286Thr)
c.569T>C (p.Ile190Thr)
c.*2569T>C (n.*2569T>C)
gnomAD v4
3g.15644707T>GCA351607359BTDc.791T>G (p.Ile264Ser)
c.399+2650T>G (n.399+2650T>G)
c.165+2650T>G (n.165+2650T>G)
c.851T>G (p.Ile284Ser)
c.857T>G (p.Ile286Ser)
c.569T>G (p.Ile190Ser)
c.*2569T>G (n.*2569T>G)
3g.15644708T>ACA432819437BTDc.792T>A (p.Ile264=)
c.399+2651T>A (n.399+2651T>A)
c.165+2651T>A (n.165+2651T>A)
c.852T>A (p.Ile284=)
c.858T>A (p.Ile286=)
c.570T>A (p.Ile190=)
c.*2570T>A (n.*2570T>A)
3g.15644708T>CCA432819435BTDc.792T>C (p.Ile264=)
c.399+2651T>C (n.399+2651T>C)
c.165+2651T>C (n.165+2651T>C)
c.852T>C (p.Ile284=)
c.858T>C (p.Ile286=)
c.570T>C (p.Ile190=)
c.*2570T>C (n.*2570T>C)
3g.15644708T>GCA351607360BTDc.792T>G (p.Ile264Met)
c.399+2651T>G (n.399+2651T>G)
c.165+2651T>G (n.165+2651T>G)
c.852T>G (p.Ile284Met)
c.858T>G (p.Ile286Met)
c.570T>G (p.Ile190Met)
c.*2570T>G (n.*2570T>G)
dbSNP
3g.15644708T=CA1347664292BTDc.792T= (p.Ile264=)
c.399+2651T= (n.399+2651T=)
c.165+2651T= (n.165+2651T=)
c.852T= (p.Ile284=)
c.858T= (p.Ile286=)
c.570T= (p.Ile190=)
c.*2570T= (n.*2570T=)
3g.15644709C>ACA351607363BTDc.793C>A (p.Gln265Lys)
c.399+2652C>A (n.399+2652C>A)
c.165+2652C>A (n.165+2652C>A)
c.853C>A (p.Gln285Lys)
c.859C>A (p.Gln287Lys)
c.571C>A (p.Gln191Lys)
c.*2571C>A (n.*2571C>A)
3g.15644709C>GCA351607361BTDc.793C>G (p.Gln265Glu)
c.399+2652C>G (n.399+2652C>G)
c.165+2652C>G (n.165+2652C>G)
c.853C>G (p.Gln285Glu)
c.859C>G (p.Gln287Glu)
c.571C>G (p.Gln191Glu)
c.*2571C>G (n.*2571C>G)
gnomAD v4
3g.15644709C>TCA351607362BTDc.793C>T (p.Gln265Ter)
c.399+2652C>T (n.399+2652C>T)
c.165+2652C>T (n.165+2652C>T)
c.853C>T (p.Gln285Ter)
c.859C>T (p.Gln287Ter)
c.571C>T (p.Gln191Ter)
c.*2571C>T (n.*2571C>T)
3g.15644710A>CCA351607364BTDc.794A>C (p.Gln265Pro)
c.399+2653A>C (n.399+2653A>C)
c.165+2653A>C (n.165+2653A>C)
c.854A>C (p.Gln285Pro)
c.860A>C (p.Gln287Pro)
c.572A>C (p.Gln191Pro)
c.*2572A>C (n.*2572A>C)
3g.15644710A>GCA351607365BTDc.794A>G (p.Gln265Arg)
c.399+2653A>G (n.399+2653A>G)
c.165+2653A>G (n.165+2653A>G)
c.854A>G (p.Gln285Arg)
c.860A>G (p.Gln287Arg)
c.572A>G (p.Gln191Arg)
c.*2572A>G (n.*2572A>G)
3g.15644710A>TCA351607366BTDc.794A>T (p.Gln265Leu)
c.399+2653A>T (n.399+2653A>T)
c.165+2653A>T (n.165+2653A>T)
c.854A>T (p.Gln285Leu)
c.860A>T (p.Gln287Leu)
c.572A>T (p.Gln191Leu)
c.*2572A>T (n.*2572A>T)
3g.15644711G>ACA432819443BTDc.795G>A (p.Gln265=)
c.399+2654G>A (n.399+2654G>A)
c.165+2654G>A (n.165+2654G>A)
c.855G>A (p.Gln285=)
c.861G>A (p.Gln287=)
c.573G>A (p.Gln191=)
c.*2573G>A (n.*2573G>A)
3g.15644711G>CCA351607367BTDc.795G>C (p.Gln265His)
c.399+2654G>C (n.399+2654G>C)
c.165+2654G>C (n.165+2654G>C)
c.855G>C (p.Gln285His)
c.861G>C (p.Gln287His)
c.573G>C (p.Gln191His)
c.*2573G>C (n.*2573G>C)
ClinVar dbSNP
3g.15644711G=CA1347664296BTDc.795G= (p.Gln265=)
c.399+2654G= (n.399+2654G=)
c.165+2654G= (n.165+2654G=)
c.855G= (p.Gln285=)
c.861G= (p.Gln287=)
c.573G= (p.Gln191=)
c.*2573G= (n.*2573G=)
3g.15644711G>TCA351607368BTDc.795G>T (p.Gln265His)
c.399+2654G>T (n.399+2654G>T)
c.165+2654G>T (n.165+2654G>T)
c.855G>T (p.Gln285His)
c.861G>T (p.Gln287His)
c.573G>T (p.Gln191His)
c.*2573G>T (n.*2573G>T)
3g.15644711_15644712delinsGACA1347664298BTDc.795_796delinsGA (p.Gln265=)
c.399+2654_399+2655delinsGA (n.399+2654_399+2655delinsGA)
c.165+2654_165+2655delinsGA (n.165+2654_165+2655delinsGA)
c.855_856delinsGA (p.Gln285=)
c.861_862delinsGA (p.Gln287=)
c.573_574delinsGA (p.Gln191=)
c.*2573_*2574delinsGA (n.*2573_*2574delinsGA)
3g.15644712A=CA1347664304BTDc.796A= (p.Lys266=)
c.399+2655A= (n.399+2655A=)
c.165+2655A= (n.165+2655A=)
c.856A= (p.Lys286=)
c.862A= (p.Lys288=)
c.574A= (p.Lys192=)
c.*2574A= (n.*2574A=)
3g.15644712A>CCA351607369BTDc.796A>C (p.Lys266Gln)
c.399+2655A>C (n.399+2655A>C)
c.165+2655A>C (n.165+2655A>C)
c.856A>C (p.Lys286Gln)
c.862A>C (p.Lys288Gln)
c.574A>C (p.Lys192Gln)
c.*2574A>C (n.*2574A>C)
3g.15644712A>GCA351607370BTDc.796A>G (p.Lys266Glu)
c.399+2655A>G (n.399+2655A>G)
c.165+2655A>G (n.165+2655A>G)
c.856A>G (p.Lys286Glu)
c.862A>G (p.Lys288Glu)
c.574A>G (p.Lys192Glu)
c.*2574A>G (n.*2574A>G)
3g.15644712A>TCA351607371BTDc.796A>T (p.Lys266Ter)
c.399+2655A>T (n.399+2655A>T)
c.165+2655A>T (n.165+2655A>T)
c.856A>T (p.Lys286Ter)
c.862A>T (p.Lys288Ter)
c.574A>T (p.Lys192Ter)
c.*2574A>T (n.*2574A>T)
3g.15644714delCA915941881BTDc.798del (p.Ala267LeufsTer22)
c.399+2657del (n.399+2657del)
c.165+2657del (n.165+2657del)
c.858del (p.Ala287LeufsTer22)
c.864del (p.Ala289LeufsTer22)
c.576del (p.Ala193LeufsTer22)
c.*2576del (n.*2576del)
ClinVar dbSNP
3g.15644713A>CCA351607372BTDc.797A>C (p.Lys266Thr)
c.399+2656A>C (n.399+2656A>C)
c.165+2656A>C (n.165+2656A>C)
c.857A>C (p.Lys286Thr)
c.863A>C (p.Lys288Thr)
c.575A>C (p.Lys192Thr)
c.*2575A>C (n.*2575A>C)
3g.15644713A>GCA351607373BTDc.797A>G (p.Lys266Arg)
c.399+2656A>G (n.399+2656A>G)
c.165+2656A>G (n.165+2656A>G)
c.857A>G (p.Lys286Arg)
c.863A>G (p.Lys288Arg)
c.575A>G (p.Lys192Arg)
c.*2575A>G (n.*2575A>G)
gnomAD v4
3g.15644713A>TCA351607374BTDc.797A>T (p.Lys266Ile)
c.399+2656A>T (n.399+2656A>T)
c.165+2656A>T (n.165+2656A>T)
c.857A>T (p.Lys286Ile)
c.863A>T (p.Lys288Ile)
c.575A>T (p.Lys192Ile)
c.*2575A>T (n.*2575A>T)
3g.15644714A=CA1347664312BTDc.798A= (p.Lys266=)
c.399+2657A= (n.399+2657A=)
c.165+2657A= (n.165+2657A=)
c.858A= (p.Lys286=)
c.864A= (p.Lys288=)
c.576A= (p.Lys192=)
c.*2576A= (n.*2576A=)
3g.15644714A>CCA351607376BTDc.798A>C (p.Lys266Asn)
c.399+2657A>C (n.399+2657A>C)
c.165+2657A>C (n.165+2657A>C)
c.858A>C (p.Lys286Asn)
c.864A>C (p.Lys288Asn)
c.576A>C (p.Lys192Asn)
c.*2576A>C (n.*2576A>C)
gnomAD v4
3g.15644714A>GCA2277385BTDc.798A>G (p.Lys266=)
c.399+2657A>G (n.399+2657A>G)
c.165+2657A>G (n.165+2657A>G)
c.858A>G (p.Lys286=)
c.864A>G (p.Lys288=)
c.576A>G (p.Lys192=)
c.*2576A>G (n.*2576A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.15644714A>TCA351607375BTDc.798A>T (p.Lys266Asn)
c.399+2657A>T (n.399+2657A>T)
c.165+2657A>T (n.165+2657A>T)
c.858A>T (p.Lys286Asn)
c.864A>T (p.Lys288Asn)
c.576A>T (p.Lys192Asn)
c.*2576A>T (n.*2576A>T)
3g.15644715delCA2695197751BTDc.799del (p.Ala267LeufsTer22)
c.399+2658del (n.399+2658del)
c.165+2658del (n.165+2658del)
c.859del (p.Ala287LeufsTer22)
c.865del (p.Ala289LeufsTer22)
c.577del (p.Ala193LeufsTer22)
c.*2577del (n.*2577del)
ClinVar
3g.15644715G>ACA351607377BTDc.799G>A (p.Ala267Thr)
c.399+2658G>A (n.399+2658G>A)
c.165+2658G>A (n.165+2658G>A)
c.859G>A (p.Ala287Thr)
c.865G>A (p.Ala289Thr)
c.577G>A (p.Ala193Thr)
c.*2577G>A (n.*2577G>A)
3g.15644715G>CCA351607378BTDc.799G>C (p.Ala267Pro)
c.399+2658G>C (n.399+2658G>C)
c.165+2658G>C (n.165+2658G>C)
c.859G>C (p.Ala287Pro)
c.865G>C (p.Ala289Pro)
c.577G>C (p.Ala193Pro)
c.*2577G>C (n.*2577G>C)
3g.15644715G=CA1347664317BTDc.799G= (p.Ala267=)
c.399+2658G= (n.399+2658G=)
c.165+2658G= (n.165+2658G=)
c.859G= (p.Ala287=)
c.865G= (p.Ala289=)
c.577G= (p.Ala193=)
c.*2577G= (n.*2577G=)
3g.15644715G>TCA351607379BTDc.799G>T (p.Ala267Ser)
c.399+2658G>T (n.399+2658G>T)
c.165+2658G>T (n.165+2658G>T)
c.859G>T (p.Ala287Ser)
c.865G>T (p.Ala289Ser)
c.577G>T (p.Ala193Ser)
c.*2577G>T (n.*2577G>T)
dbSNP gnomAD v4
3g.15644716C>ACA351607380BTDc.800C>A (p.Ala267Asp)
c.399+2659C>A (n.399+2659C>A)
c.165+2659C>A (n.165+2659C>A)
c.860C>A (p.Ala287Asp)
c.866C>A (p.Ala289Asp)
c.578C>A (p.Ala193Asp)
c.*2578C>A (n.*2578C>A)
3g.15644716C>GCA351607381BTDc.800C>G (p.Ala267Gly)
c.399+2659C>G (n.399+2659C>G)
c.165+2659C>G (n.165+2659C>G)
c.860C>G (p.Ala287Gly)
c.866C>G (p.Ala289Gly)
c.578C>G (p.Ala193Gly)
c.*2578C>G (n.*2578C>G)
3g.15644716C>TCA351607382BTDc.800C>T (p.Ala267Val)
c.399+2659C>T (n.399+2659C>T)
c.165+2659C>T (n.165+2659C>T)
c.860C>T (p.Ala287Val)
c.866C>T (p.Ala289Val)
c.578C>T (p.Ala193Val)
c.*2578C>T (n.*2578C>T)
3g.15644717T>ACA432819454BTDc.801T>A (p.Ala267=)
c.399+2660T>A (n.399+2660T>A)
c.165+2660T>A (n.165+2660T>A)
c.861T>A (p.Ala287=)
c.867T>A (p.Ala289=)
c.579T>A (p.Ala193=)
c.*2579T>A (n.*2579T>A)
3g.15644717T>CCA432819455BTDc.801T>C (p.Ala267=)
c.399+2660T>C (n.399+2660T>C)
c.165+2660T>C (n.165+2660T>C)
c.861T>C (p.Ala287=)
c.867T>C (p.Ala289=)
c.579T>C (p.Ala193=)
c.*2579T>C (n.*2579T>C)
3g.15644717T>GCA432819456BTDc.801T>G (p.Ala267=)
c.399+2660T>G (n.399+2660T>G)
c.165+2660T>G (n.165+2660T>G)
c.861T>G (p.Ala287=)
c.867T>G (p.Ala289=)
c.579T>G (p.Ala193=)
c.*2579T>G (n.*2579T>G)
3g.15644720delCA2664667152BTDc.804del (p.Phe268LeufsTer21)
c.399+2663del (n.399+2663del)
c.165+2663del (n.165+2663del)
c.864del (p.Phe288LeufsTer21)
c.870del (p.Phe290LeufsTer21)
c.582del (p.Phe194LeufsTer21)
c.*2582del (n.*2582del)
gnomAD v4
3g.15644718T>ACA351607383BTDc.802T>A (p.Phe268Ile)
c.399+2661T>A (n.399+2661T>A)
c.165+2661T>A (n.165+2661T>A)
c.862T>A (p.Phe288Ile)
c.868T>A (p.Phe290Ile)
c.580T>A (p.Phe194Ile)
c.*2580T>A (n.*2580T>A)
3g.15644718T>CCA351607384BTDc.802T>C (p.Phe268Leu)
c.399+2661T>C (n.399+2661T>C)
c.165+2661T>C (n.165+2661T>C)
c.862T>C (p.Phe288Leu)
c.868T>C (p.Phe290Leu)
c.580T>C (p.Phe194Leu)
c.*2580T>C (n.*2580T>C)
3g.15644718T>GCA351607385BTDc.802T>G (p.Phe268Val)
c.399+2661T>G (n.399+2661T>G)
c.165+2661T>G (n.165+2661T>G)
c.862T>G (p.Phe288Val)
c.868T>G (p.Phe290Val)
c.580T>G (p.Phe194Val)
c.*2580T>G (n.*2580T>G)
3g.15644719T>ACA351607386BTDc.803T>A (p.Phe268Tyr)
c.399+2662T>A (n.399+2662T>A)
c.165+2662T>A (n.165+2662T>A)
c.863T>A (p.Phe288Tyr)
c.869T>A (p.Phe290Tyr)
c.581T>A (p.Phe194Tyr)
c.*2581T>A (n.*2581T>A)
3g.15644719T>CCA351607387BTDc.803T>C (p.Phe268Ser)
c.399+2662T>C (n.399+2662T>C)
c.165+2662T>C (n.165+2662T>C)
c.863T>C (p.Phe288Ser)
c.869T>C (p.Phe290Ser)
c.581T>C (p.Phe194Ser)
c.*2581T>C (n.*2581T>C)
3g.15644719T>GCA351607388BTDc.803T>G (p.Phe268Cys)
c.399+2662T>G (n.399+2662T>G)
c.165+2662T>G (n.165+2662T>G)
c.863T>G (p.Phe288Cys)
c.869T>G (p.Phe290Cys)
c.581T>G (p.Phe194Cys)
c.*2581T>G (n.*2581T>G)
3g.15644720T>ACA351607389BTDc.804T>A (p.Phe268Leu)
c.399+2663T>A (n.399+2663T>A)
c.165+2663T>A (n.165+2663T>A)
c.864T>A (p.Phe288Leu)
c.870T>A (p.Phe290Leu)
c.582T>A (p.Phe194Leu)
c.*2582T>A (n.*2582T>A)
3g.15644720T>CCA432819462BTDc.804T>C (p.Phe268=)
c.399+2663T>C (n.399+2663T>C)
c.165+2663T>C (n.165+2663T>C)
c.864T>C (p.Phe288=)
c.870T>C (p.Phe290=)
c.582T>C (p.Phe194=)
c.*2582T>C (n.*2582T>C)
3g.15644720T>GCA2277386BTDc.804T>G (p.Phe268Leu)
c.399+2663T>G (n.399+2663T>G)
c.165+2663T>G (n.165+2663T>G)
c.864T>G (p.Phe288Leu)
c.870T>G (p.Phe290Leu)
c.582T>G (p.Phe194Leu)
c.*2582T>G (n.*2582T>G)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.15644720T=CA1347664319BTDc.804T= (p.Phe268=)
c.399+2663T= (n.399+2663T=)
c.165+2663T= (n.165+2663T=)
c.864T= (p.Phe288=)
c.870T= (p.Phe290=)
c.582T= (p.Phe194=)
c.*2582T= (n.*2582T=)
3g.15644721G>ACA351607390BTDc.805G>A (p.Ala269Thr)
c.399+2664G>A (n.399+2664G>A)
c.165+2664G>A (n.165+2664G>A)
c.865G>A (p.Ala289Thr)
c.871G>A (p.Ala291Thr)
c.583G>A (p.Ala195Thr)
c.*2583G>A (n.*2583G>A)
gnomAD v4
3g.15644721G>CCA081769BTDc.805G>C (p.Ala269Pro)
c.399+2664G>C (n.399+2664G>C)
c.165+2664G>C (n.165+2664G>C)
c.865G>C (p.Ala289Pro)
c.871G>C (p.Ala291Pro)
c.583G>C (p.Ala195Pro)
c.*2583G>C (n.*2583G>C)
ClinVar dbSNP
3g.15644721G=CA1347664324BTDc.805G= (p.Ala269=)
c.399+2664G= (n.399+2664G=)
c.165+2664G= (n.165+2664G=)
c.865G= (p.Ala289=)
c.871G= (p.Ala291=)
c.583G= (p.Ala195=)
c.*2583G= (n.*2583G=)
3g.15644721G>TCA351607391BTDc.805G>T (p.Ala269Ser)
c.399+2664G>T (n.399+2664G>T)
c.165+2664G>T (n.165+2664G>T)
c.865G>T (p.Ala289Ser)
c.871G>T (p.Ala291Ser)
c.583G>T (p.Ala195Ser)
c.*2583G>T (n.*2583G>T)
gnomAD v4
3g.15644722C>ACA351607392BTDc.806C>A (p.Ala269Asp)
c.399+2665C>A (n.399+2665C>A)
c.165+2665C>A (n.165+2665C>A)
c.866C>A (p.Ala289Asp)
c.872C>A (p.Ala291Asp)
c.584C>A (p.Ala195Asp)
c.*2584C>A (n.*2584C>A)
gnomAD v4
3g.15644722C=CA1347664330BTDc.806C= (p.Ala269=)
c.399+2665C= (n.399+2665C=)
c.165+2665C= (n.165+2665C=)
c.866C= (p.Ala289=)
c.872C= (p.Ala291=)
c.584C= (p.Ala195=)
c.*2584C= (n.*2584C=)
3g.15644722C>GCA351607393BTDc.806C>G (p.Ala269Gly)
c.399+2665C>G (n.399+2665C>G)
c.165+2665C>G (n.165+2665C>G)
c.866C>G (p.Ala289Gly)
c.872C>G (p.Ala291Gly)
c.584C>G (p.Ala195Gly)
c.*2584C>G (n.*2584C>G)
3g.15644722C>TCA16604827BTDc.806C>T (p.Ala269Val)
c.399+2665C>T (n.399+2665C>T)
c.165+2665C>T (n.165+2665C>T)
c.866C>T (p.Ala289Val)
c.872C>T (p.Ala291Val)
c.584C>T (p.Ala195Val)
c.*2584C>T (n.*2584C>T)
ClinVar dbSNP

Number of alleles fetched