Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.121187894G>ACA254070TBCEL-TECTA,TECTAc.6062G>A (p.Arg2021His)
c.6047G>A (p.Arg2016His)
c.3354G>A
n.2442G>A
c.7004G>A (p.Arg2335His)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.121187894G>CCA383009657TBCEL-TECTA,TECTAc.6062G>C (p.Arg2021Pro)
c.6047G>C (p.Arg2016Pro)
c.3354G>C
n.2442G>C
c.7004G>C (p.Arg2335Pro)
11g.121187894G=CA2004763161TBCEL-TECTA,TECTAc.6062G= (p.Arg2021=)
c.6047G= (p.Arg2016=)
c.3354G=
n.2442G=
c.7004G= (p.Arg2335=)
11g.121187894G>TCA383009658TBCEL-TECTA,TECTAc.6062G>T (p.Arg2021Leu)
c.6047G>T (p.Arg2016Leu)
c.3354G>T
n.2442G>T
c.7004G>T (p.Arg2335Leu)
11g.121187895C>ACA477209120TBCEL-TECTA,TECTAc.6063C>A (p.Arg2021=)
c.6048C>A (p.Arg2016=)
c.3355C>A
n.2443C>A
c.7005C>A (p.Arg2335=)
11g.121187895C>GCA477209121TBCEL-TECTA,TECTAc.6063C>G (p.Arg2021=)
c.6048C>G (p.Arg2016=)
c.3355C>G
n.2443C>G
c.7005C>G (p.Arg2335=)
11g.121187895C>TCA477209122TBCEL-TECTA,TECTAc.6063C>T (p.Arg2021=)
c.6048C>T (p.Arg2016=)
c.3355C>T
n.2443C>T
c.7005C>T (p.Arg2335=)
 dbSNP gnomAD v4
11g.121187896T>ACA383009659TBCEL-TECTA,TECTAc.6064T>A (p.Phe2022Ile)
c.6049T>A (p.Phe2017Ile)
c.3356T>A
n.2444T>A
c.7006T>A (p.Phe2336Ile)
11g.121187896T>CCA383009661TBCEL-TECTA,TECTAc.6064T>C (p.Phe2022Leu)
c.6049T>C (p.Phe2017Leu)
c.3356T>C
n.2444T>C
c.7006T>C (p.Phe2336Leu)
11g.121187896T>GCA383009660TBCEL-TECTA,TECTAc.6064T>G (p.Phe2022Val)
c.6049T>G (p.Phe2017Val)
c.3356T>G
n.2444T>G
c.7006T>G (p.Phe2336Val)
11g.121187897T>ACA383009662TBCEL-TECTA,TECTAc.6065T>A (p.Phe2022Tyr)
c.6050T>A (p.Phe2017Tyr)
c.3357T>A
n.2445T>A
c.7007T>A (p.Phe2336Tyr)
11g.121187897T>CCA383009663TBCEL-TECTA,TECTAc.6065T>C (p.Phe2022Ser)
c.6050T>C (p.Phe2017Ser)
c.3357T>C
n.2445T>C
c.7007T>C (p.Phe2336Ser)
11g.121187897T>GCA383009664TBCEL-TECTA,TECTAc.6065T>G (p.Phe2022Cys)
c.6050T>G (p.Phe2017Cys)
c.3357T>G
n.2445T>G
c.7007T>G (p.Phe2336Cys)
11g.121187898T>ACA383009665TBCEL-TECTA,TECTAc.6066T>A (p.Phe2022Leu)
c.6051T>A (p.Phe2017Leu)
c.3358T>A
n.2446T>A
c.7008T>A (p.Phe2336Leu)
11g.121187898T>CCA477209132TBCEL-TECTA,TECTAc.6066T>C (p.Phe2022=)
c.6051T>C (p.Phe2017=)
c.3358T>C
n.2446T>C
c.7008T>C (p.Phe2336=)
11g.121187898T>GCA383009666TBCEL-TECTA,TECTAc.6066T>G (p.Phe2022Leu)
c.6051T>G (p.Phe2017Leu)
c.3358T>G
n.2446T>G
c.7008T>G (p.Phe2336Leu)
11g.121187899C>ACA383009667TBCEL-TECTA,TECTAc.6067C>A (p.His2023Asn)
c.6052C>A (p.His2018Asn)
c.3359C>A
n.2447C>A
c.7009C>A (p.His2337Asn)
11g.121187899C>GCA383009668TBCEL-TECTA,TECTAc.6067C>G (p.His2023Asp)
c.6052C>G (p.His2018Asp)
c.3359C>G
n.2447C>G
c.7009C>G (p.His2337Asp)
11g.121187899C>TCA383009669TBCEL-TECTA,TECTAc.6067C>T (p.His2023Tyr)
c.6052C>T (p.His2018Tyr)
c.3359C>T
n.2447C>T
c.7009C>T (p.His2337Tyr)
11g.121187900A>CCA383009670TBCEL-TECTA,TECTAc.6068A>C (p.His2023Pro)
c.6053A>C (p.His2018Pro)
c.3360A>C
n.2448A>C
c.7010A>C (p.His2337Pro)
11g.121187900A>GCA383009671TBCEL-TECTA,TECTAc.6068A>G (p.His2023Arg)
c.6053A>G (p.His2018Arg)
c.3360A>G
n.2448A>G
c.7010A>G (p.His2337Arg)
11g.121187900A>TCA383009672TBCEL-TECTA,TECTAc.6068A>T (p.His2023Leu)
c.6053A>T (p.His2018Leu)
c.3360A>T
n.2448A>T
c.7010A>T (p.His2337Leu)
11g.121187901C>ACA383009674TBCEL-TECTA,TECTAc.6069C>A (p.His2023Gln)
c.6054C>A (p.His2018Gln)
c.3361C>A
n.2449C>A
c.7011C>A (p.His2337Gln)
11g.121187901C=CA2004763162TBCEL-TECTA,TECTAc.6069C= (p.His2023=)
c.6054C= (p.His2018=)
c.3361C=
n.2449C=
c.7011C= (p.His2337=)
11g.121187901C>GCA383009673TBCEL-TECTA,TECTAc.6069C>G (p.His2023Gln)
c.6054C>G (p.His2018Gln)
c.3361C>G
n.2449C>G
c.7011C>G (p.His2337Gln)
 dbSNP
11g.121187901C>TCA6327875TBCEL-TECTA,TECTAc.6069C>T (p.His2023=)
c.6054C>T (p.His2018=)
c.3361C>T
n.2449C>T
c.7011C>T (p.His2337=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121187902G>ACA6327876TBCEL-TECTA,TECTAc.6070G>A (p.Val2024Ile)
c.6055G>A (p.Val2019Ile)
c.3362G>A
n.2450G>A
c.7012G>A (p.Val2338Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121187902G>CCA383009675TBCEL-TECTA,TECTAc.6070G>C (p.Val2024Leu)
c.6055G>C (p.Val2019Leu)
c.3362G>C
n.2450G>C
c.7012G>C (p.Val2338Leu)
11g.121187902G=CA2004763163TBCEL-TECTA,TECTAc.6070G= (p.Val2024=)
c.6055G= (p.Val2019=)
c.3362G=
n.2450G=
c.7012G= (p.Val2338=)
11g.121187902G>TCA383009676TBCEL-TECTA,TECTAc.6070G>T (p.Val2024Phe)
c.6055G>T (p.Val2019Phe)
c.3362G>T
n.2450G>T
c.7012G>T (p.Val2338Phe)
 gnomAD v4
11g.121187903T>ACA383009677TBCEL-TECTA,TECTAc.6071T>A (p.Val2024Asp)
c.6056T>A (p.Val2019Asp)
c.3363T>A
n.2451T>A
c.7013T>A (p.Val2338Asp)
11g.121187903T>CCA383009678TBCEL-TECTA,TECTAc.6071T>C (p.Val2024Ala)
c.6056T>C (p.Val2019Ala)
c.3363T>C
n.2451T>C
c.7013T>C (p.Val2338Ala)
11g.121187903T>GCA383009679TBCEL-TECTA,TECTAc.6071T>G (p.Val2024Gly)
c.6056T>G (p.Val2019Gly)
c.3363T>G
n.2451T>G
c.7013T>G (p.Val2338Gly)
11g.121187904C>ACA477209136TBCEL-TECTA,TECTAc.6072C>A (p.Val2024=)
c.6057C>A (p.Val2019=)
c.3364C>A
n.2452C>A
c.7014C>A (p.Val2338=)
11g.121187904C>GCA477209137TBCEL-TECTA,TECTAc.6072C>G (p.Val2024=)
c.6057C>G (p.Val2019=)
c.3364C>G
n.2452C>G
c.7014C>G (p.Val2338=)
11g.121187904C>TCA477209139TBCEL-TECTA,TECTAc.6072C>T (p.Val2024=)
c.6057C>T (p.Val2019=)
c.3364C>T
n.2452C>T
c.7014C>T (p.Val2338=)
11g.121187905A>CCA383009680TBCEL-TECTA,TECTAc.6073A>C (p.Thr2025Pro)
c.6058A>C (p.Thr2020Pro)
c.3365A>C
n.2453A>C
c.7015A>C (p.Thr2339Pro)
11g.121187905A>GCA383009681TBCEL-TECTA,TECTAc.6073A>G (p.Thr2025Ala)
c.6058A>G (p.Thr2020Ala)
c.3365A>G
n.2453A>G
c.7015A>G (p.Thr2339Ala)
11g.121187905A>TCA383009682TBCEL-TECTA,TECTAc.6073A>T (p.Thr2025Ser)
c.6058A>T (p.Thr2020Ser)
c.3365A>T
n.2453A>T
c.7015A>T (p.Thr2339Ser)
11g.121187906C>ACA383009683TBCEL-TECTA,TECTAc.6074C>A (p.Thr2025Asn)
c.6059C>A (p.Thr2020Asn)
c.3366C>A
n.2454C>A
c.7016C>A (p.Thr2339Asn)
11g.121187906C>GCA383009684TBCEL-TECTA,TECTAc.6074C>G (p.Thr2025Ser)
c.6059C>G (p.Thr2020Ser)
c.3366C>G
n.2454C>G
c.7016C>G (p.Thr2339Ser)
11g.121187906C>TCA383009685TBCEL-TECTA,TECTAc.6074C>T (p.Thr2025Ile)
c.6059C>T (p.Thr2020Ile)
c.3366C>T
n.2454C>T
c.7016C>T (p.Thr2339Ile)
11g.121187907C>ACA229828391TBCEL-TECTA,TECTAc.6075C>A (p.Thr2025=)
c.6060C>A (p.Thr2020=)
c.3367C>A
n.2455C>A
c.7017C>A (p.Thr2339=)
 dbSNP gnomAD v3 gnomAD v4
11g.121187907C=CA2004763164TBCEL-TECTA,TECTAc.6075C= (p.Thr2025=)
c.6060C= (p.Thr2020=)
c.3367C=
n.2455C=
c.7017C= (p.Thr2339=)
11g.121187907C>GCA477209143TBCEL-TECTA,TECTAc.6075C>G (p.Thr2025=)
c.6060C>G (p.Thr2020=)
c.3367C>G
n.2455C>G
c.7017C>G (p.Thr2339=)
11g.121187907C>TCA6327877TBCEL-TECTA,TECTAc.6075C>T (p.Thr2025=)
c.6060C>T (p.Thr2020=)
c.3367C>T
n.2455C>T
c.7017C>T (p.Thr2339=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.121187908G>ACA6327878TBCEL-TECTA,TECTAc.6076G>A (p.Val2026Ile)
c.6061G>A (p.Val2021Ile)
c.3368G>A
n.2456G>A
c.7018G>A (p.Val2340Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.121187908G>CCA383009687TBCEL-TECTA,TECTAc.6076G>C (p.Val2026Leu)
c.6061G>C (p.Val2021Leu)
c.3368G>C
n.2456G>C
c.7018G>C (p.Val2340Leu)
11g.121187908G=CA2004763165TBCEL-TECTA,TECTAc.6076G= (p.Val2026=)
c.6061G= (p.Val2021=)
c.3368G=
n.2456G=
c.7018G= (p.Val2340=)
11g.121187908G>TCA383009686TBCEL-TECTA,TECTAc.6076G>T (p.Val2026Phe)
c.6061G>T (p.Val2021Phe)
c.3368G>T
n.2456G>T
c.7018G>T (p.Val2340Phe)
11g.121187909T>ACA383009688TBCEL-TECTA,TECTAc.6077T>A (p.Val2026Asp)
c.6062T>A (p.Val2021Asp)
c.3369T>A
n.2457T>A
c.7019T>A (p.Val2340Asp)
11g.121187909T>CCA383009689TBCEL-TECTA,TECTAc.6077T>C (p.Val2026Ala)
c.6062T>C (p.Val2021Ala)
c.3369T>C
n.2457T>C
c.7019T>C (p.Val2340Ala)
11g.121187909T>GCA383009690TBCEL-TECTA,TECTAc.6077T>G (p.Val2026Gly)
c.6062T>G (p.Val2021Gly)
c.3369T>G
n.2457T>G
c.7019T>G (p.Val2340Gly)
11g.121187910C>ACA477209150TBCEL-TECTA,TECTAc.6078C>A (p.Val2026=)
c.6063C>A (p.Val2021=)
c.3370C>A
n.2458C>A
c.7020C>A (p.Val2340=)
11g.121187910C>GCA477209151TBCEL-TECTA,TECTAc.6078C>G (p.Val2026=)
c.6063C>G (p.Val2021=)
c.3370C>G
n.2458C>G
c.7020C>G (p.Val2340=)
11g.121187910C>TCA477209152TBCEL-TECTA,TECTAc.6078C>T (p.Val2026=)
c.6063C>T (p.Val2021=)
c.3370C>T
n.2458C>T
c.7020C>T (p.Val2340=)
 COSMIC
11g.121187910_121187912delinsCTTCA2004763166TBCEL-TECTA,TECTAc.6078_6080delinsCTT (p.Val2026=)
c.6063_6065delinsCTT (p.Val2021=)
c.3370_3372delinsCTT
n.2458_2460delinsCTT
c.7020_7022delinsCTT (p.Val2340=)
11g.121187911T>ACA383009691TBCEL-TECTA,TECTAc.6079T>A (p.Phe2027Ile)
c.6064T>A (p.Phe2022Ile)
c.3371T>A
n.2459T>A
c.7021T>A (p.Phe2341Ile)
11g.121187911T>CCA383009692TBCEL-TECTA,TECTAc.6079T>C (p.Phe2027Leu)
c.6064T>C (p.Phe2022Leu)
c.3371T>C
n.2459T>C
c.7021T>C (p.Phe2341Leu)
11g.121187911T>GCA383009693TBCEL-TECTA,TECTAc.6079T>G (p.Phe2027Val)
c.6064T>G (p.Phe2022Val)
c.3371T>G
n.2459T>G
c.7021T>G (p.Phe2341Val)
11g.121187912_121187913delCA6327879TBCEL-TECTA,TECTAc.6080_6081del (p.Phe2027Ter)
c.6065_6066del (p.Phe2022Ter)
c.3372_3373del
n.2460_2461del
c.7022_7023del (p.Phe2341Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121187912T>ACA383009694TBCEL-TECTA,TECTAc.6080T>A (p.Phe2027Tyr)
c.6065T>A (p.Phe2022Tyr)
c.3372T>A
n.2460T>A
c.7022T>A (p.Phe2341Tyr)
11g.121187912T>CCA383009695TBCEL-TECTA,TECTAc.6080T>C (p.Phe2027Ser)
c.6065T>C (p.Phe2022Ser)
c.3372T>C
n.2460T>C
c.7022T>C (p.Phe2341Ser)
11g.121187912T>GCA383009696TBCEL-TECTA,TECTAc.6080T>G (p.Phe2027Cys)
c.6065T>G (p.Phe2022Cys)
c.3372T>G
n.2460T>G
c.7022T>G (p.Phe2341Cys)
11g.121187913T>ACA383009697TBCEL-TECTA,TECTAc.6081T>A (p.Phe2027Leu)
c.6066T>A (p.Phe2022Leu)
c.3373T>A
n.2461T>A
c.7023T>A (p.Phe2341Leu)
11g.121187913T>CCA477209160TBCEL-TECTA,TECTAc.6081T>C (p.Phe2027=)
c.6066T>C (p.Phe2022=)
c.3373T>C
n.2461T>C
c.7023T>C (p.Phe2341=)
 gnomAD v4
11g.121187913T>GCA383009698TBCEL-TECTA,TECTAc.6081T>G (p.Phe2027Leu)
c.6066T>G (p.Phe2022Leu)
c.3373T>G
n.2461T>G
c.7023T>G (p.Phe2341Leu)
11g.121187914A>CCA383009700TBCEL-TECTA,TECTAc.6082A>C (p.Lys2028Gln)
c.6067A>C (p.Lys2023Gln)
c.3374A>C
n.2462A>C
c.7024A>C (p.Lys2342Gln)
11g.121187914A>GCA383009701TBCEL-TECTA,TECTAc.6082A>G (p.Lys2028Glu)
c.6067A>G (p.Lys2023Glu)
c.3374A>G
n.2462A>G
c.7024A>G (p.Lys2342Glu)
11g.121187914A>TCA383009699TBCEL-TECTA,TECTAc.6082A>T (p.Lys2028Ter)
c.6067A>T (p.Lys2023Ter)
c.3374A>T
n.2462A>T
c.7024A>T (p.Lys2342Ter)
11g.121187915A>CCA383009702TBCEL-TECTA,TECTAc.6083A>C (p.Lys2028Thr)
c.6068A>C (p.Lys2023Thr)
c.3375A>C
n.2463A>C
c.7025A>C (p.Lys2342Thr)
11g.121187915A>GCA383009703TBCEL-TECTA,TECTAc.6083A>G (p.Lys2028Arg)
c.6068A>G (p.Lys2023Arg)
c.3375A>G
n.2463A>G
c.7025A>G (p.Lys2342Arg)
11g.121187915A>TCA383009704TBCEL-TECTA,TECTAc.6083A>T (p.Lys2028Ile)
c.6068A>T (p.Lys2023Ile)
c.3375A>T
n.2463A>T
c.7025A>T (p.Lys2342Ile)
11g.121187916A>CCA383009705TBCEL-TECTA,TECTAc.6084A>C (p.Lys2028Asn)
c.6069A>C (p.Lys2023Asn)
c.3376A>C
n.2464A>C
c.7026A>C (p.Lys2342Asn)
11g.121187916A>GCA477209162TBCEL-TECTA,TECTAc.6084A>G (p.Lys2028=)
c.6069A>G (p.Lys2023=)
c.3376A>G
n.2464A>G
c.7026A>G (p.Lys2342=)
 gnomAD v4
11g.121187916A>TCA383009706TBCEL-TECTA,TECTAc.6084A>T (p.Lys2028Asn)
c.6069A>T (p.Lys2023Asn)
c.3376A>T
n.2464A>T
c.7026A>T (p.Lys2342Asn)
11g.121187917T>ACA383009707TBCEL-TECTA,TECTAc.6085T>A (p.Phe2029Ile)
c.6070T>A (p.Phe2024Ile)
c.3377T>A
n.2465T>A
c.7027T>A (p.Phe2343Ile)
11g.121187917T>CCA383009708TBCEL-TECTA,TECTAc.6085T>C (p.Phe2029Leu)
c.6070T>C (p.Phe2024Leu)
c.3377T>C
n.2465T>C
c.7027T>C (p.Phe2343Leu)
11g.121187917T>GCA383009709TBCEL-TECTA,TECTAc.6085T>G (p.Phe2029Val)
c.6070T>G (p.Phe2024Val)
c.3377T>G
n.2465T>G
c.7027T>G (p.Phe2343Val)
11g.121187918T>ACA383009710TBCEL-TECTA,TECTAc.6086T>A (p.Phe2029Tyr)
c.6071T>A (p.Phe2024Tyr)
c.3378T>A
n.2466T>A
c.7028T>A (p.Phe2343Tyr)
11g.121187918T>CCA383009711TBCEL-TECTA,TECTAc.6086T>C (p.Phe2029Ser)
c.6071T>C (p.Phe2024Ser)
c.3378T>C
n.2466T>C
c.7028T>C (p.Phe2343Ser)
 ClinVar dbSNP
11g.121187918T>GCA383009712TBCEL-TECTA,TECTAc.6086T>G (p.Phe2029Cys)
c.6071T>G (p.Phe2024Cys)
c.3378T>G
n.2466T>G
c.7028T>G (p.Phe2343Cys)
11g.121187919C>ACA383009713TBCEL-TECTA,TECTAc.6087C>A (p.Phe2029Leu)
c.6072C>A (p.Phe2024Leu)
c.3379C>A
n.2467C>A
c.7029C>A (p.Phe2343Leu)
11g.121187919C>GCA383009714TBCEL-TECTA,TECTAc.6087C>G (p.Phe2029Leu)
c.6072C>G (p.Phe2024Leu)
c.3379C>G
n.2467C>G
c.7029C>G (p.Phe2343Leu)
11g.121187919C>TCA477209166TBCEL-TECTA,TECTAc.6087C>T (p.Phe2029=)
c.6072C>T (p.Phe2024=)
c.3379C>T
n.2467C>T
c.7029C>T (p.Phe2343=)
 COSMIC
11g.121187920A=CA2004763167TBCEL-TECTA,TECTAc.6088A= (p.Ile2030=)
c.6073A= (p.Ile2025=)
c.3380A=
n.2468A=
c.7030A= (p.Ile2344=)
11g.121187920A>CCA383009716TBCEL-TECTA,TECTAc.6088A>C (p.Ile2030Leu)
c.6073A>C (p.Ile2025Leu)
c.3380A>C
n.2468A>C
c.7030A>C (p.Ile2344Leu)
11g.121187920A>GCA383009715TBCEL-TECTA,TECTAc.6088A>G (p.Ile2030Val)
c.6073A>G (p.Ile2025Val)
c.3380A>G
n.2468A>G
c.7030A>G (p.Ile2344Val)
 dbSNP gnomAD v4
11g.121187920A>TCA6327880TBCEL-TECTA,TECTAc.6088A>T (p.Ile2030Leu)
c.6073A>T (p.Ile2025Leu)
c.3380A>T
n.2468A>T
c.7030A>T (p.Ile2344Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121187921T>ACA383009717TBCEL-TECTA,TECTAc.6089T>A (p.Ile2030Lys)
c.6074T>A (p.Ile2025Lys)
c.3381T>A
n.2469T>A
c.7031T>A (p.Ile2344Lys)
11g.121187921T>CCA10576839TBCEL-TECTA,TECTAc.6089T>C (p.Ile2030Thr)
c.6074T>C (p.Ile2025Thr)
c.3381T>C
n.2469T>C
c.7031T>C (p.Ile2344Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.121187921T>GCA383009718TBCEL-TECTA,TECTAc.6089T>G (p.Ile2030Arg)
c.6074T>G (p.Ile2025Arg)
c.3381T>G
n.2469T>G
c.7031T>G (p.Ile2344Arg)
11g.121187921T=CA2004763168TBCEL-TECTA,TECTAc.6089T= (p.Ile2030=)
c.6074T= (p.Ile2025=)
c.3381T=
n.2469T=
c.7031T= (p.Ile2344=)
11g.121187922A>CCA477209168TBCEL-TECTA,TECTAc.6090A>C (p.Ile2030=)
c.6075A>C (p.Ile2025=)
c.3382A>C
n.2470A>C
c.7032A>C (p.Ile2344=)
11g.121187922A>GCA383009719TBCEL-TECTA,TECTAc.6090A>G (p.Ile2030Met)
c.6075A>G (p.Ile2025Met)
c.3382A>G
n.2470A>G
c.7032A>G (p.Ile2344Met)
11g.121187922A>TCA477209169TBCEL-TECTA,TECTAc.6090A>T (p.Ile2030=)
c.6075A>T (p.Ile2025=)
c.3382A>T
n.2470A>T
c.7032A>T (p.Ile2344=)
11g.121187923G>ACA383009720TBCEL-TECTA,TECTAc.6091G>A (p.Gly2031Arg)
c.6076G>A (p.Gly2026Arg)
c.3383G>A
n.2471G>A
c.7033G>A (p.Gly2345Arg)
11g.121187923G>CCA383009721TBCEL-TECTA,TECTAc.6091G>C (p.Gly2031Arg)
c.6076G>C (p.Gly2026Arg)
c.3383G>C
n.2471G>C
c.7033G>C (p.Gly2345Arg)
11g.121187923G>TCA383009722TBCEL-TECTA,TECTAc.6091G>T (p.Gly2031Trp)
c.6076G>T (p.Gly2026Trp)
c.3383G>T
n.2471G>T
c.7033G>T (p.Gly2345Trp)
11g.121187924G>ACA383009723TBCEL-TECTA,TECTAc.6092G>A (p.Gly2031Glu)
c.6077G>A (p.Gly2026Glu)
c.3384G>A
n.2472G>A
c.7034G>A (p.Gly2345Glu)
 dbSNP
11g.121187924G>CCA383009724TBCEL-TECTA,TECTAc.6092G>C (p.Gly2031Ala)
c.6077G>C (p.Gly2026Ala)
c.3384G>C
n.2472G>C
c.7034G>C (p.Gly2345Ala)
11g.121187924G=CA2004763169TBCEL-TECTA,TECTAc.6092G= (p.Gly2031=)
c.6077G= (p.Gly2026=)
c.3384G=
n.2472G=
c.7034G= (p.Gly2345=)
11g.121187924G>TCA383009725TBCEL-TECTA,TECTAc.6092G>T (p.Gly2031Val)
c.6077G>T (p.Gly2026Val)
c.3384G>T
n.2472G>T
c.7034G>T (p.Gly2345Val)
11g.121187925G>ACA477209172TBCEL-TECTA,TECTAc.6093G>A (p.Gly2031=)
c.6078G>A (p.Gly2026=)
c.3385G>A
n.2473G>A
c.7035G>A (p.Gly2345=)
11g.121187925G>CCA477209174TBCEL-TECTA,TECTAc.6093G>C (p.Gly2031=)
c.6078G>C (p.Gly2026=)
c.3385G>C
n.2473G>C
c.7035G>C (p.Gly2345=)
 gnomAD v4
11g.121187925G>TCA477209173TBCEL-TECTA,TECTAc.6093G>T (p.Gly2031=)
c.6078G>T (p.Gly2026=)
c.3385G>T
n.2473G>T
c.7035G>T (p.Gly2345=)
11g.121187926G>ACA383009726TBCEL-TECTA,TECTAc.6094G>A (p.Asp2032Asn)
c.6079G>A (p.Asp2027Asn)
c.3386G>A
n.2474G>A
c.7036G>A (p.Asp2346Asn)
 gnomAD v4 COSMIC
11g.121187926G>CCA383009727TBCEL-TECTA,TECTAc.6094G>C (p.Asp2032His)
c.6079G>C (p.Asp2027His)
c.3386G>C
n.2474G>C
c.7036G>C (p.Asp2346His)
11g.121187926G=CA2004763170TBCEL-TECTA,TECTAc.6094G= (p.Asp2032=)
c.6079G= (p.Asp2027=)
c.3386G=
n.2474G=
c.7036G= (p.Asp2346=)
11g.121187926G>TCA6327881TBCEL-TECTA,TECTAc.6094G>T (p.Asp2032Tyr)
c.6079G>T (p.Asp2027Tyr)
c.3386G>T
n.2474G>T
c.7036G>T (p.Asp2346Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121187927A>CCA383009729TBCEL-TECTA,TECTAc.6095A>C (p.Asp2032Ala)
c.6080A>C (p.Asp2027Ala)
c.3387A>C
n.2475A>C
c.7037A>C (p.Asp2346Ala)
11g.121187927A>GCA383009730TBCEL-TECTA,TECTAc.6095A>G (p.Asp2032Gly)
c.6080A>G (p.Asp2027Gly)
c.3387A>G
n.2475A>G
c.7037A>G (p.Asp2346Gly)
11g.121187927A>TCA383009728TBCEL-TECTA,TECTAc.6095A>T (p.Asp2032Val)
c.6080A>T (p.Asp2027Val)
c.3387A>T
n.2475A>T
c.7037A>T (p.Asp2346Val)
11g.121187928T>ACA383009731TBCEL-TECTA,TECTAc.6096T>A (p.Asp2032Glu)
c.6081T>A (p.Asp2027Glu)
c.3388T>A
n.2476T>A
c.7038T>A (p.Asp2346Glu)
11g.121187928T>CCA477209175TBCEL-TECTA,TECTAc.6096T>C (p.Asp2032=)
c.6081T>C (p.Asp2027=)
c.3388T>C
n.2476T>C
c.7038T>C (p.Asp2346=)
11g.121187928T>GCA383009732TBCEL-TECTA,TECTAc.6096T>G (p.Asp2032Glu)
c.6081T>G (p.Asp2027Glu)
c.3388T>G
n.2476T>G
c.7038T>G (p.Asp2346Glu)
11g.121187929T>ACA383009733TBCEL-TECTA,TECTAc.6097T>A (p.Tyr2033Asn)
c.6082T>A (p.Tyr2028Asn)
c.3389T>A
n.2477T>A
c.7039T>A (p.Tyr2347Asn)
11g.121187929T>CCA383009735TBCEL-TECTA,TECTAc.6097T>C (p.Tyr2033His)
c.6082T>C (p.Tyr2028His)
c.3389T>C
n.2477T>C
c.7039T>C (p.Tyr2347His)
11g.121187929T>GCA383009734TBCEL-TECTA,TECTAc.6097T>G (p.Tyr2033Asp)
c.6082T>G (p.Tyr2028Asp)
c.3389T>G
n.2477T>G
c.7039T>G (p.Tyr2347Asp)
11g.121187930A>CCA383009736TBCEL-TECTA,TECTAc.6098A>C (p.Tyr2033Ser)
c.6083A>C (p.Tyr2028Ser)
c.3390A>C
n.2478A>C
c.7040A>C (p.Tyr2347Ser)
11g.121187930A>GCA383009737TBCEL-TECTA,TECTAc.6098A>G (p.Tyr2033Cys)
c.6083A>G (p.Tyr2028Cys)
c.3390A>G
n.2478A>G
c.7040A>G (p.Tyr2347Cys)
11g.121187930A>TCA383009738TBCEL-TECTA,TECTAc.6098A>T (p.Tyr2033Phe)
c.6083A>T (p.Tyr2028Phe)
c.3390A>T
n.2478A>T
c.7040A>T (p.Tyr2347Phe)
11g.121187931delCA2499220810TBCEL-TECTA,TECTAc.6099del (p.Tyr2033Ter)
c.6084del (p.Tyr2028Ter)
c.3391del
n.2479del
c.7041del (p.Tyr2347Ter)
 ClinVar dbSNP
11g.121187931C>ACA383009739TBCEL-TECTA,TECTAc.6099C>A (p.Tyr2033Ter)
c.6084C>A (p.Tyr2028Ter)
c.3391C>A
n.2479C>A
c.7041C>A (p.Tyr2347Ter)
11g.121187931C=CA2004763171TBCEL-TECTA,TECTAc.6099C= (p.Tyr2033=)
c.6084C= (p.Tyr2028=)
c.3391C=
n.2479C=
c.7041C= (p.Tyr2347=)
11g.121187931C>GCA383009740TBCEL-TECTA,TECTAc.6099C>G (p.Tyr2033Ter)
c.6084C>G (p.Tyr2028Ter)
c.3391C>G
n.2479C>G
c.7041C>G (p.Tyr2347Ter)
11g.121187931C>TCA6327882TBCEL-TECTA,TECTAc.6099C>T (p.Tyr2033=)
c.6084C>T (p.Tyr2028=)
c.3391C>T
n.2479C>T
c.7041C>T (p.Tyr2347=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121187932G>ACA6327883TBCEL-TECTA,TECTAc.6100G>A (p.Asp2034Asn)
c.6085G>A (p.Asp2029Asn)
c.3392G>A
n.2480G>A
c.7042G>A (p.Asp2348Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121187932G>CCA383009741TBCEL-TECTA,TECTAc.6100G>C (p.Asp2034His)
c.6085G>C (p.Asp2029His)
c.3392G>C
n.2480G>C
c.7042G>C (p.Asp2348His)
11g.121187932G=CA2004763172TBCEL-TECTA,TECTAc.6100G= (p.Asp2034=)
c.6085G= (p.Asp2029=)
c.3392G=
n.2480G=
c.7042G= (p.Asp2348=)
11g.121187932G>TCA383009742TBCEL-TECTA,TECTAc.6100G>T (p.Asp2034Tyr)
c.6085G>T (p.Asp2029Tyr)
c.3392G>T
n.2480G>T
c.7042G>T (p.Asp2348Tyr)
11g.121187933A>CCA383009745TBCEL-TECTA,TECTAc.6101A>C (p.Asp2034Ala)
c.6086A>C (p.Asp2029Ala)
c.3393A>C
n.2481A>C
c.7043A>C (p.Asp2348Ala)
11g.121187933A>GCA383009744TBCEL-TECTA,TECTAc.6101A>G (p.Asp2034Gly)
c.6086A>G (p.Asp2029Gly)
c.3393A>G
n.2481A>G
c.7043A>G (p.Asp2348Gly)
11g.121187933A>TCA383009743TBCEL-TECTA,TECTAc.6101A>T (p.Asp2034Val)
c.6086A>T (p.Asp2029Val)
c.3393A>T
n.2481A>T
c.7043A>T (p.Asp2348Val)
11g.121187934C>ACA383009746TBCEL-TECTA,TECTAc.6102C>A (p.Asp2034Glu)
c.6087C>A (p.Asp2029Glu)
c.3394C>A
n.2482C>A
c.7044C>A (p.Asp2348Glu)
 gnomAD v4
11g.121187934C=CA2004763173TBCEL-TECTA,TECTAc.6102C= (p.Asp2034=)
c.6087C= (p.Asp2029=)
c.3394C=
n.2482C=
c.7044C= (p.Asp2348=)
11g.121187934C>GCA383009747TBCEL-TECTA,TECTAc.6102C>G (p.Asp2034Glu)
c.6087C>G (p.Asp2029Glu)
c.3394C>G
n.2482C>G
c.7044C>G (p.Asp2348Glu)
11g.121187934C>TCA6327884TBCEL-TECTA,TECTAc.6102C>T (p.Asp2034=)
c.6087C>T (p.Asp2029=)
c.3394C>T
n.2482C>T
c.7044C>T (p.Asp2348=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121187935G>ACA6327885TBCEL-TECTA,TECTAc.6103G>A (p.Glu2035Lys)
c.6088G>A (p.Glu2030Lys)
c.3395G>A
n.2483G>A
c.7045G>A (p.Glu2349Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.121187935G>CCA383009748TBCEL-TECTA,TECTAc.6103G>C (p.Glu2035Gln)
c.6088G>C (p.Glu2030Gln)
c.3395G>C
n.2483G>C
c.7045G>C (p.Glu2349Gln)
11g.121187935G=CA2004763174TBCEL-TECTA,TECTAc.6103G= (p.Glu2035=)
c.6088G= (p.Glu2030=)
c.3395G=
n.2483G=
c.7045G= (p.Glu2349=)
11g.121187935G>TCA383009749TBCEL-TECTA,TECTAc.6103G>T (p.Glu2035Ter)
c.6088G>T (p.Glu2030Ter)
c.3395G>T
n.2483G>T
c.7045G>T (p.Glu2349Ter)
 ClinVar dbSNP gnomAD v4
11g.121187936A>CCA383009750TBCEL-TECTA,TECTAc.6104A>C (p.Glu2035Ala)
c.6089A>C (p.Glu2030Ala)
c.3396A>C
n.2484A>C
c.7046A>C (p.Glu2349Ala)
11g.121187936A>GCA383009751TBCEL-TECTA,TECTAc.6104A>G (p.Glu2035Gly)
c.6089A>G (p.Glu2030Gly)
c.3396A>G
n.2484A>G
c.7046A>G (p.Glu2349Gly)
11g.121187936A>TCA383009752TBCEL-TECTA,TECTAc.6104A>T (p.Glu2035Val)
c.6089A>T (p.Glu2030Val)
c.3396A>T
n.2484A>T
c.7046A>T (p.Glu2349Val)
11g.121187937A>CCA383009753TBCEL-TECTA,TECTAc.6105A>C (p.Glu2035Asp)
c.6090A>C (p.Glu2030Asp)
c.3397A>C
n.2485A>C
c.7047A>C (p.Glu2349Asp)
11g.121187937A>GCA477209189TBCEL-TECTA,TECTAc.6105A>G (p.Glu2035=)
c.6090A>G (p.Glu2030=)
c.3397A>G
n.2485A>G
c.7047A>G (p.Glu2349=)
11g.121187937A>TCA383009754TBCEL-TECTA,TECTAc.6105A>T (p.Glu2035Asp)
c.6090A>T (p.Glu2030Asp)
c.3397A>T
n.2485A>T
c.7047A>T (p.Glu2349Asp)
11g.121187938G>ACA383009756TBCEL-TECTA,TECTAc.6106G>A (p.Val2036Ile)
c.6091G>A (p.Val2031Ile)
c.3398G>A
n.2486G>A
c.7048G>A (p.Val2350Ile)
11g.121187938G>CCA383009757TBCEL-TECTA,TECTAc.6106G>C (p.Val2036Leu)
c.6091G>C (p.Val2031Leu)
c.3398G>C
n.2486G>C
c.7048G>C (p.Val2350Leu)
11g.121187938G>TCA383009755TBCEL-TECTA,TECTAc.6106G>T (p.Val2036Phe)
c.6091G>T (p.Val2031Phe)
c.3398G>T
n.2486G>T
c.7048G>T (p.Val2350Phe)
11g.121187939T>ACA383009758TBCEL-TECTA,TECTAc.6107T>A (p.Val2036Asp)
c.6092T>A (p.Val2031Asp)
c.3399T>A
n.2487T>A
c.7049T>A (p.Val2350Asp)
11g.121187939T>CCA383009759TBCEL-TECTA,TECTAc.6107T>C (p.Val2036Ala)
c.6092T>C (p.Val2031Ala)
c.3399T>C
n.2487T>C
c.7049T>C (p.Val2350Ala)
11g.121187939T>GCA383009760TBCEL-TECTA,TECTAc.6107T>G (p.Val2036Gly)
c.6092T>G (p.Val2031Gly)
c.3399T>G
n.2487T>G
c.7049T>G (p.Val2350Gly)
11g.121187940T>ACA477209195TBCEL-TECTA,TECTAc.6108T>A (p.Val2036=)
c.6093T>A (p.Val2031=)
c.3400T>A
n.2488T>A
c.7050T>A (p.Val2350=)
11g.121187940T>CCA477209197TBCEL-TECTA,TECTAc.6108T>C (p.Val2036=)
c.6093T>C (p.Val2031=)
c.3400T>C
n.2488T>C
c.7050T>C (p.Val2350=)
11g.121187940T>GCA477209198TBCEL-TECTA,TECTAc.6108T>G (p.Val2036=)
c.6093T>G (p.Val2031=)
c.3400T>G
n.2488T>G
c.7050T>G (p.Val2350=)
11g.121187941C>ACA383009761TBCEL-TECTA,TECTAc.6109C>A (p.His2037Asn)
c.6094C>A (p.His2032Asn)
c.3401C>A
n.2489C>A
c.7051C>A (p.His2351Asn)
11g.121187941C>GCA383009762TBCEL-TECTA,TECTAc.6109C>G (p.His2037Asp)
c.6094C>G (p.His2032Asp)
c.3401C>G
n.2489C>G
c.7051C>G (p.His2351Asp)
11g.121187941C>TCA383009763TBCEL-TECTA,TECTAc.6109C>T (p.His2037Tyr)
c.6094C>T (p.His2032Tyr)
c.3401C>T
n.2489C>T
c.7051C>T (p.His2351Tyr)
 COSMIC
11g.121187942A>CCA383009764TBCEL-TECTA,TECTAc.6110A>C (p.His2037Pro)
c.6095A>C (p.His2032Pro)
c.3402A>C
n.2490A>C
c.7052A>C (p.His2351Pro)
11g.121187942A>GCA383009765TBCEL-TECTA,TECTAc.6110A>G (p.His2037Arg)
c.6095A>G (p.His2032Arg)
c.3402A>G
n.2490A>G
c.7052A>G (p.His2351Arg)
11g.121187942A>TCA383009766TBCEL-TECTA,TECTAc.6110A>T (p.His2037Leu)
c.6095A>T (p.His2032Leu)
c.3402A>T
n.2490A>T
c.7052A>T (p.His2351Leu)
11g.121187943C>ACA383009767TBCEL-TECTA,TECTAc.6111C>A (p.His2037Gln)
c.6096C>A (p.His2032Gln)
c.3403C>A
n.2491C>A
c.7053C>A (p.His2351Gln)
11g.121187943C>GCA383009768TBCEL-TECTA,TECTAc.6111C>G (p.His2037Gln)
c.6096C>G (p.His2032Gln)
c.3403C>G
n.2491C>G
c.7053C>G (p.His2351Gln)
11g.121187943C>TCA477209201TBCEL-TECTA,TECTAc.6111C>T (p.His2037=)
c.6096C>T (p.His2032=)
c.3403C>T
n.2491C>T
c.7053C>T (p.His2351=)
 gnomAD v4
11g.121187944C>ACA383009770TBCEL-TECTA,TECTAc.6112C>A (p.Leu2038Ile)
c.6097C>A (p.Leu2033Ile)
c.3404C>A
n.2492C>A
c.7054C>A (p.Leu2352Ile)
11g.121187944C=CA2004763175TBCEL-TECTA,TECTAc.6112C= (p.Leu2038=)
c.6097C= (p.Leu2033=)
c.3404C=
n.2492C=
c.7054C= (p.Leu2352=)
11g.121187944C>GCA383009771TBCEL-TECTA,TECTAc.6112C>G (p.Leu2038Val)
c.6097C>G (p.Leu2033Val)
c.3404C>G
n.2492C>G
c.7054C>G (p.Leu2352Val)
11g.121187944C>TCA383009769TBCEL-TECTA,TECTAc.6112C>T (p.Leu2038Phe)
c.6097C>T (p.Leu2033Phe)
c.3404C>T
n.2492C>T
c.7054C>T (p.Leu2352Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121187945T>ACA383009772TBCEL-TECTA,TECTAc.6113T>A (p.Leu2038His)
c.6098T>A (p.Leu2033His)
c.3405T>A
n.2493T>A
c.7055T>A (p.Leu2352His)
11g.121187945T>CCA383009773TBCEL-TECTA,TECTAc.6113T>C (p.Leu2038Pro)
c.6098T>C (p.Leu2033Pro)
c.3405T>C
n.2493T>C
c.7055T>C (p.Leu2352Pro)
11g.121187945T>GCA383009774TBCEL-TECTA,TECTAc.6113T>G (p.Leu2038Arg)
c.6098T>G (p.Leu2033Arg)
c.3405T>G
n.2493T>G
c.7055T>G (p.Leu2352Arg)
11g.121187946T>ACA477209204TBCEL-TECTA,TECTAc.6114T>A (p.Leu2038=)
c.6099T>A (p.Leu2033=)
c.3406T>A
n.2494T>A
c.7056T>A (p.Leu2352=)
11g.121187946T>CCA477209202TBCEL-TECTA,TECTAc.6114T>C (p.Leu2038=)
c.6099T>C (p.Leu2033=)
c.3406T>C
n.2494T>C
c.7056T>C (p.Leu2352=)
11g.121187946T>GCA477209203TBCEL-TECTA,TECTAc.6114T>G (p.Leu2038=)
c.6099T>G (p.Leu2033=)
c.3406T>G
n.2494T>G
c.7056T>G (p.Leu2352=)
 gnomAD v4
11g.121187947_121187948insGTGTAATGTCCA2616489388TBCEL-TECTA,TECTAc.6115_6116insGTGTAATGTC (p.His2039ArgfsTer18)
c.6100_6101insGTGTAATGTC (p.His2034ArgfsTer18)
c.3407_3408insGTGTAATGTC
n.2495_2496insGTGTAATGTC
c.7057_7058insGTGTAATGTC (p.His2353ArgfsTer18)
 gnomAD v4
11g.121187947C>ACA383009775TBCEL-TECTA,TECTAc.6115C>A (p.His2039Asn)
c.6100C>A (p.His2034Asn)
c.3407C>A
n.2495C>A
c.7057C>A (p.His2353Asn)
11g.121187947C=CA2004763176TBCEL-TECTA,TECTAc.6115C= (p.His2039=)
c.6100C= (p.His2034=)
c.3407C=
n.2495C=
c.7057C= (p.His2353=)
11g.121187947C>GCA383009776TBCEL-TECTA,TECTAc.6115C>G (p.His2039Asp)
c.6100C>G (p.His2034Asp)
c.3407C>G
n.2495C>G
c.7057C>G (p.His2353Asp)
11g.121187947C>TCA178111TBCEL-TECTA,TECTAc.6115C>T (p.His2039Tyr)
c.6100C>T (p.His2034Tyr)
c.3407C>T
n.2495C>T
c.7057C>T (p.His2353Tyr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.121187948A>CCA383009777TBCEL-TECTA,TECTAc.6116A>C (p.His2039Pro)
c.6101A>C (p.His2034Pro)
c.3408A>C
n.2496A>C
c.7058A>C (p.His2353Pro)
11g.121187948A>GCA383009779TBCEL-TECTA,TECTAc.6116A>G (p.His2039Arg)
c.6101A>G (p.His2034Arg)
c.3408A>G
n.2496A>G
c.7058A>G (p.His2353Arg)
11g.121187948A>TCA383009778TBCEL-TECTA,TECTAc.6116A>T (p.His2039Leu)
c.6101A>T (p.His2034Leu)
c.3408A>T
n.2496A>T
c.7058A>T (p.His2353Leu)
11g.121187949C>ACA383009780TBCEL-TECTA,TECTAc.6117C>A (p.His2039Gln)
c.6102C>A (p.His2034Gln)
c.3409C>A
n.2497C>A
c.7059C>A (p.His2353Gln)
11g.121187949C>GCA383009781TBCEL-TECTA,TECTAc.6117C>G (p.His2039Gln)
c.6102C>G (p.His2034Gln)
c.3409C>G
n.2497C>G
c.7059C>G (p.His2353Gln)
11g.121187949C>TCA477209209TBCEL-TECTA,TECTAc.6117C>T (p.His2039=)
c.6102C>T (p.His2034=)
c.3409C>T
n.2497C>T
c.7059C>T (p.His2353=)
 COSMIC
11g.121187949_121187950insGAAGGCACACGCAGCA2616489392TBCEL-TECTA,TECTAc.6117_6118insGAAGGCACACGCAG (p.Cys2040GlufsTer?)
c.6102_6103insGAAGGCACACGCAG (p.Cys2035GlufsTer?)
c.3409_3410insGAAGGCACACGCAG
n.2497_2498insGAAGGCACACGCAG
c.7059_7060insGAAGGCACACGCAG (p.Cys2354GlufsTer?)
 gnomAD v4
11g.121187950T>ACA383009782TBCEL-TECTA,TECTAc.6118T>A (p.Cys2040Ser)
c.6103T>A (p.Cys2035Ser)
c.3410T>A
n.2498T>A
c.7060T>A (p.Cys2354Ser)
11g.121187950T>CCA383009783TBCEL-TECTA,TECTAc.6118T>C (p.Cys2040Arg)
c.6103T>C (p.Cys2035Arg)
c.3410T>C
n.2498T>C
c.7060T>C (p.Cys2354Arg)
11g.121187950T>GCA383009784TBCEL-TECTA,TECTAc.6118T>G (p.Cys2040Gly)
c.6103T>G (p.Cys2035Gly)
c.3410T>G
n.2498T>G
c.7060T>G (p.Cys2354Gly)
11g.121187951G>ACA383009786TBCEL-TECTA,TECTAc.6119G>A (p.Cys2040Tyr)
c.6104G>A (p.Cys2035Tyr)
c.3411G>A
n.2499G>A
c.7061G>A (p.Cys2354Tyr)
11g.121187951G>CCA383009787TBCEL-TECTA,TECTAc.6119G>C (p.Cys2040Ser)
c.6104G>C (p.Cys2035Ser)
c.3411G>C
n.2499G>C
c.7061G>C (p.Cys2354Ser)
11g.121187951G>TCA383009785TBCEL-TECTA,TECTAc.6119G>T (p.Cys2040Phe)
c.6104G>T (p.Cys2035Phe)
c.3411G>T
n.2499G>T
c.7061G>T (p.Cys2354Phe)
11g.121187952T>ACA383009788TBCEL-TECTA,TECTAc.6120T>A (p.Cys2040Ter)
c.6105T>A (p.Cys2035Ter)
c.3412T>A
n.2500T>A
c.7062T>A (p.Cys2354Ter)
11g.121187952T>CCA477209214TBCEL-TECTA,TECTAc.6120T>C (p.Cys2040=)
c.6105T>C (p.Cys2035=)
c.3412T>C
n.2500T>C
c.7062T>C (p.Cys2354=)
11g.121187952T>GCA383009789TBCEL-TECTA,TECTAc.6120T>G (p.Cys2040Trp)
c.6105T>G (p.Cys2035Trp)
c.3412T>G
n.2500T>G
c.7062T>G (p.Cys2354Trp)
11g.121187953G>ACA383009790TBCEL-TECTA,TECTAc.6121G>A (p.Ala2041Thr)
c.6106G>A (p.Ala2036Thr)
c.3413G>A
n.2501G>A
c.7063G>A (p.Ala2355Thr)
 gnomAD v4
11g.121187953G>CCA383009791TBCEL-TECTA,TECTAc.6121G>C (p.Ala2041Pro)
c.6106G>C (p.Ala2036Pro)
c.3413G>C
n.2501G>C
c.7063G>C (p.Ala2355Pro)
11g.121187953G=CA2004763177TBCEL-TECTA,TECTAc.6121G= (p.Ala2041=)
c.6106G= (p.Ala2036=)
c.3413G=
n.2501G=
c.7063G= (p.Ala2355=)
11g.121187953G>TCA383009792TBCEL-TECTA,TECTAc.6121G>T (p.Ala2041Ser)
c.6106G>T (p.Ala2036Ser)
c.3413G>T
n.2501G>T
c.7063G>T (p.Ala2355Ser)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.121187954C>ACA383009795TBCEL-TECTA,TECTAc.6122C>A (p.Ala2041Glu)
c.6107C>A (p.Ala2036Glu)
c.3414C>A
n.2502C>A
c.7064C>A (p.Ala2355Glu)
11g.121187954C>GCA383009794TBCEL-TECTA,TECTAc.6122C>G (p.Ala2041Gly)
c.6107C>G (p.Ala2036Gly)
c.3414C>G
n.2502C>G
c.7064C>G (p.Ala2355Gly)
11g.121187954C>TCA383009793TBCEL-TECTA,TECTAc.6122C>T (p.Ala2041Val)
c.6107C>T (p.Ala2036Val)
c.3414C>T
n.2502C>T
c.7064C>T (p.Ala2355Val)
 gnomAD v4
11g.121187955A=CA2004763178TBCEL-TECTA,TECTAc.6123A= (p.Ala2041=)
c.6108A= (p.Ala2036=)
c.3415A=
n.2503A=
c.7065A= (p.Ala2355=)
11g.121187955A>CCA477209218TBCEL-TECTA,TECTAc.6123A>C (p.Ala2041=)
c.6108A>C (p.Ala2036=)
c.3415A>C
n.2503A>C
c.7065A>C (p.Ala2355=)
11g.121187955A>GCA229828430TBCEL-TECTA,TECTAc.6123A>G (p.Ala2041=)
c.6108A>G (p.Ala2036=)
c.3415A>G
n.2503A>G
c.7065A>G (p.Ala2355=)
 dbSNP gnomAD v4
11g.121187955A>TCA477209220TBCEL-TECTA,TECTAc.6123A>T (p.Ala2041=)
c.6108A>T (p.Ala2036=)
c.3415A>T
n.2503A>T
c.7065A>T (p.Ala2355=)
11g.121187956G>ACA383009796TBCEL-TECTA,TECTAc.6124G>A (p.Val2042Met)
c.6109G>A (p.Val2037Met)
c.3416G>A
n.2504G>A
c.7066G>A (p.Val2356Met)
11g.121187956G>CCA383009797TBCEL-TECTA,TECTAc.6124G>C (p.Val2042Leu)
c.6109G>C (p.Val2037Leu)
c.3416G>C
n.2504G>C
c.7066G>C (p.Val2356Leu)
11g.121187956G>TCA383009798TBCEL-TECTA,TECTAc.6124G>T (p.Val2042Leu)
c.6109G>T (p.Val2037Leu)
c.3416G>T
n.2504G>T
c.7066G>T (p.Val2356Leu)
11g.121187957T>ACA383009799TBCEL-TECTA,TECTAc.6125T>A (p.Val2042Glu)
c.6110T>A (p.Val2037Glu)
c.3417T>A
n.2505T>A
c.7067T>A (p.Val2356Glu)
11g.121187957T>CCA383009800TBCEL-TECTA,TECTAc.6125T>C (p.Val2042Ala)
c.6110T>C (p.Val2037Ala)
c.3417T>C
n.2505T>C
c.7067T>C (p.Val2356Ala)
11g.121187957T>GCA383009801TBCEL-TECTA,TECTAc.6125T>G (p.Val2042Gly)
c.6110T>G (p.Val2037Gly)
c.3417T>G
n.2505T>G
c.7067T>G (p.Val2356Gly)
11g.121187958G>ACA477209225TBCEL-TECTA,TECTAc.6126G>A (p.Val2042=)
c.6111G>A (p.Val2037=)
c.3418G>A
n.2506G>A
c.7068G>A (p.Val2356=)
11g.121187958G>CCA477209223TBCEL-TECTA,TECTAc.6126G>C (p.Val2042=)
c.6111G>C (p.Val2037=)
c.3418G>C
n.2506G>C
c.7068G>C (p.Val2356=)
 gnomAD v4
11g.121187958G>TCA477209224TBCEL-TECTA,TECTAc.6126G>T (p.Val2042=)
c.6111G>T (p.Val2037=)
c.3418G>T
n.2506G>T
c.7068G>T (p.Val2356=)
11g.121187959T>ACA383009804TBCEL-TECTA,TECTAc.6127T>A (p.Ser2043Thr)
c.6112T>A (p.Ser2038Thr)
c.3419T>A
n.2507T>A
c.7069T>A (p.Ser2357Thr)
11g.121187959T>CCA383009802TBCEL-TECTA,TECTAc.6127T>C (p.Ser2043Pro)
c.6112T>C (p.Ser2038Pro)
c.3419T>C
n.2507T>C
c.7069T>C (p.Ser2357Pro)
11g.121187959T>GCA383009803TBCEL-TECTA,TECTAc.6127T>G (p.Ser2043Ala)
c.6112T>G (p.Ser2038Ala)
c.3419T>G
n.2507T>G
c.7069T>G (p.Ser2357Ala)
11g.121187960C>ACA383009805TBCEL-TECTA,TECTAc.6128C>A (p.Ser2043Ter)
c.6113C>A (p.Ser2038Ter)
c.3420C>A
n.2508C>A
c.7070C>A (p.Ser2357Ter)
11g.121187960C>GCA383009806TBCEL-TECTA,TECTAc.6128C>G (p.Ser2043Ter)
c.6113C>G (p.Ser2038Ter)
c.3420C>G
n.2508C>G
c.7070C>G (p.Ser2357Ter)
11g.121187960C>TCA383009807TBCEL-TECTA,TECTAc.6128C>T (p.Ser2043Leu)
c.6113C>T (p.Ser2038Leu)
c.3420C>T
n.2508C>T
c.7070C>T (p.Ser2357Leu)
11g.121187961A=CA2004763179TBCEL-TECTA,TECTAc.6129A= (p.Ser2043=)
c.6114A= (p.Ser2038=)
c.3421A=
n.2509A=
c.7071A= (p.Ser2357=)
11g.121187961A>CCA477209233TBCEL-TECTA,TECTAc.6129A>C (p.Ser2043=)
c.6114A>C (p.Ser2038=)
c.3421A>C
n.2509A>C
c.7071A>C (p.Ser2357=)
11g.121187961A>GCA6327886TBCEL-TECTA,TECTAc.6129A>G (p.Ser2043=)
c.6114A>G (p.Ser2038=)
c.3421A>G
n.2509A>G
c.7071A>G (p.Ser2357=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121187961A>TCA477209234TBCEL-TECTA,TECTAc.6129A>T (p.Ser2043=)
c.6114A>T (p.Ser2038=)
c.3421A>T
n.2509A>T
c.7071A>T (p.Ser2357=)
11g.121187962C>ACA383009808TBCEL-TECTA,TECTAc.6130C>A (p.Leu2044Ile)
c.6115C>A (p.Leu2039Ile)
c.3422C>A
n.2510C>A
c.7072C>A (p.Leu2358Ile)
11g.121187962C=CA2004763180TBCEL-TECTA,TECTAc.6130C= (p.Leu2044=)
c.6115C= (p.Leu2039=)
c.3422C=
n.2510C=
c.7072C= (p.Leu2358=)
11g.121187962C>GCA383009809TBCEL-TECTA,TECTAc.6130C>G (p.Leu2044Val)
c.6115C>G (p.Leu2039Val)
c.3422C>G
n.2510C>G
c.7072C>G (p.Leu2358Val)
11g.121187962C>TCA383009810TBCEL-TECTA,TECTAc.6130C>T (p.Leu2044Phe)
c.6115C>T (p.Leu2039Phe)
c.3422C>T
n.2510C>T
c.7072C>T (p.Leu2358Phe)
 dbSNP gnomAD v3 gnomAD v4
11g.121187963T>ACA383009811TBCEL-TECTA,TECTAc.6131T>A (p.Leu2044His)
c.6116T>A (p.Leu2039His)
c.3423T>A
n.2511T>A
c.7073T>A (p.Leu2358His)
11g.121187963T>CCA383009812TBCEL-TECTA,TECTAc.6131T>C (p.Leu2044Pro)
c.6116T>C (p.Leu2039Pro)
c.3423T>C
n.2511T>C
c.7073T>C (p.Leu2358Pro)
 gnomAD v4
11g.121187963T>GCA383009813TBCEL-TECTA,TECTAc.6131T>G (p.Leu2044Arg)
c.6116T>G (p.Leu2039Arg)
c.3423T>G
n.2511T>G
c.7073T>G (p.Leu2358Arg)
11g.121187964C>ACA477209236TBCEL-TECTA,TECTAc.6132C>A (p.Leu2044=)
c.6117C>A (p.Leu2039=)
c.3424C>A
n.2512C>A
c.7074C>A (p.Leu2358=)
11g.121187964C>GCA477209237TBCEL-TECTA,TECTAc.6132C>G (p.Leu2044=)
c.6117C>G (p.Leu2039=)
c.3424C>G
n.2512C>G
c.7074C>G (p.Leu2358=)
11g.121187964C>TCA477209238TBCEL-TECTA,TECTAc.6132C>T (p.Leu2044=)
c.6117C>T (p.Leu2039=)
c.3424C>T
n.2512C>T
c.7074C>T (p.Leu2358=)
 gnomAD v4
11g.121187965T>ACA383009814TBCEL-TECTA,TECTAc.6133T>A (p.Cys2045Ser)
c.6118T>A (p.Cys2040Ser)
c.3425T>A
n.2513T>A
c.7075T>A (p.Cys2359Ser)
11g.121187965T>CCA383009815TBCEL-TECTA,TECTAc.6133T>C (p.Cys2045Arg)
c.6118T>C (p.Cys2040Arg)
c.3425T>C
n.2513T>C
c.7075T>C (p.Cys2359Arg)
11g.121187965T>GCA383009816TBCEL-TECTA,TECTAc.6133T>G (p.Cys2045Gly)
c.6118T>G (p.Cys2040Gly)
c.3425T>G
n.2513T>G
c.7075T>G (p.Cys2359Gly)
11g.121187965_121187966delCA2616489413TBCEL-TECTA,TECTAc.6133_6134del (p.Cys2045ArgfsTer8)
c.6118_6119del (p.Cys2040ArgfsTer8)
c.3425_3426del
n.2513_2514del
c.7075_7076del (p.Cys2359ArgfsTer8)
 gnomAD v4
11g.121187966G>ACA383009817TBCEL-TECTA,TECTAc.6134G>A (p.Cys2045Tyr)
c.6119G>A (p.Cys2040Tyr)
c.3426G>A
n.2514G>A
c.7076G>A (p.Cys2359Tyr)
11g.121187966G>CCA383009819TBCEL-TECTA,TECTAc.6134G>C (p.Cys2045Ser)
c.6119G>C (p.Cys2040Ser)
c.3426G>C
n.2514G>C
c.7076G>C (p.Cys2359Ser)
11g.121187966G=CA2004763181TBCEL-TECTA,TECTAc.6134G= (p.Cys2045=)
c.6119G= (p.Cys2040=)
c.3426G=
n.2514G=
c.7076G= (p.Cys2359=)
11g.121187966G>TCA383009818TBCEL-TECTA,TECTAc.6134G>T (p.Cys2045Phe)
c.6119G>T (p.Cys2040Phe)
c.3426G>T
n.2514G>T
c.7076G>T (p.Cys2359Phe)
 ClinVar dbSNP
11g.121187967C>ACA383009820TBCEL-TECTA,TECTAc.6135C>A (p.Cys2045Ter)
c.6120C>A (p.Cys2040Ter)
c.3427C>A
n.2515C>A
c.7077C>A (p.Cys2359Ter)
 dbSNP gnomAD v4
11g.121187967C=CA2004763182TBCEL-TECTA,TECTAc.6135C= (p.Cys2045=)
c.6120C= (p.Cys2040=)
c.3427C=
n.2515C=
c.7077C= (p.Cys2359=)
11g.121187967C>GCA383009821TBCEL-TECTA,TECTAc.6135C>G (p.Cys2045Trp)
c.6120C>G (p.Cys2040Trp)
c.3427C>G
n.2515C>G
c.7077C>G (p.Cys2359Trp)
11g.121187967C>TCA6327887TBCEL-TECTA,TECTAc.6135C>T (p.Cys2045=)
c.6120C>T (p.Cys2040=)
c.3427C>T
n.2515C>T
c.7077C>T (p.Cys2359=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.121187968G>ACA6327888TBCEL-TECTA,TECTAc.6136G>A (p.Asp2046Asn)
c.6121G>A (p.Asp2041Asn)
c.3428G>A
n.2516G>A
c.7078G>A (p.Asp2360Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121187968G>CCA383009822TBCEL-TECTA,TECTAc.6136G>C (p.Asp2046His)
c.6121G>C (p.Asp2041His)
c.3428G>C
n.2516G>C
c.7078G>C (p.Asp2360His)
11g.121187968G=CA2004763183TBCEL-TECTA,TECTAc.6136G= (p.Asp2046=)
c.6121G= (p.Asp2041=)
c.3428G=
n.2516G=
c.7078G= (p.Asp2360=)
11g.121187968G>TCA383009823TBCEL-TECTA,TECTAc.6136G>T (p.Asp2046Tyr)
c.6121G>T (p.Asp2041Tyr)
c.3428G>T
n.2516G>T
c.7078G>T (p.Asp2360Tyr)
11g.121187969A>CCA383009826TBCEL-TECTA,TECTAc.6137A>C (p.Asp2046Ala)
c.6122A>C (p.Asp2041Ala)
c.3429A>C
n.2517A>C
c.7079A>C (p.Asp2360Ala)
11g.121187969A>GCA383009824TBCEL-TECTA,TECTAc.6137A>G (p.Asp2046Gly)
c.6122A>G (p.Asp2041Gly)
c.3429A>G
n.2517A>G
c.7079A>G (p.Asp2360Gly)
11g.121187969A>TCA383009825TBCEL-TECTA,TECTAc.6137A>T (p.Asp2046Val)
c.6122A>T (p.Asp2041Val)
c.3429A>T
n.2517A>T
c.7079A>T (p.Asp2360Val)
11g.121187970C>ACA383009827TBCEL-TECTA,TECTAc.6138C>A (p.Asp2046Glu)
c.6123C>A (p.Asp2041Glu)
c.3430C>A
n.2518C>A
c.7080C>A (p.Asp2360Glu)
11g.121187970C>GCA383009828TBCEL-TECTA,TECTAc.6138C>G (p.Asp2046Glu)
c.6123C>G (p.Asp2041Glu)
c.3430C>G
n.2518C>G
c.7080C>G (p.Asp2360Glu)
11g.121187970C>TCA477209243TBCEL-TECTA,TECTAc.6138C>T (p.Asp2046=)
c.6123C>T (p.Asp2041=)
c.3430C>T
n.2518C>T
c.7080C>T (p.Asp2360=)
 gnomAD v4
11g.121187971T>ACA383009829TBCEL-TECTA,TECTAc.6139T>A (p.Ser2047Thr)
c.6124T>A (p.Ser2042Thr)
c.3431T>A
n.2519T>A
c.7081T>A (p.Ser2361Thr)
11g.121187971T>CCA383009830TBCEL-TECTA,TECTAc.6139T>C (p.Ser2047Pro)
c.6124T>C (p.Ser2042Pro)
c.3431T>C
n.2519T>C
c.7081T>C (p.Ser2361Pro)
 gnomAD v4
11g.121187971T>GCA383009831TBCEL-TECTA,TECTAc.6139T>G (p.Ser2047Ala)
c.6124T>G (p.Ser2042Ala)
c.3431T>G
n.2519T>G
c.7081T>G (p.Ser2361Ala)
11g.121187972C>ACA383009832TBCEL-TECTA,TECTAc.6140C>A (p.Ser2047Ter)
c.6125C>A (p.Ser2042Ter)
c.3432C>A
n.2520C>A
c.7082C>A (p.Ser2361Ter)
11g.121187972C=CA2004763184TBCEL-TECTA,TECTAc.6140C= (p.Ser2047=)
c.6125C= (p.Ser2042=)
c.3432C=
n.2520C=
c.7082C= (p.Ser2361=)
11g.121187972C>GCA383009833TBCEL-TECTA,TECTAc.6140C>G (p.Ser2047Ter)
c.6125C>G (p.Ser2042Ter)
c.3432C>G
n.2520C>G
c.7082C>G (p.Ser2361Ter)
11g.121187972C>TCA6327889TBCEL-TECTA,TECTAc.6140C>T (p.Ser2047Leu)
c.6125C>T (p.Ser2042Leu)
c.3432C>T
n.2520C>T
c.7082C>T (p.Ser2361Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121187973A=CA2004763185TBCEL-TECTA,TECTAc.6141A= (p.Ser2047=)
c.6126A= (p.Ser2042=)
c.3433A=
n.2521A=
c.7083A= (p.Ser2361=)
11g.121187973A>CCA477209253TBCEL-TECTA,TECTAc.6141A>C (p.Ser2047=)
c.6126A>C (p.Ser2042=)
c.3433A>C
n.2521A>C
c.7083A>C (p.Ser2361=)
11g.121187973A>GCA477209254TBCEL-TECTA,TECTAc.6141A>G (p.Ser2047=)
c.6126A>G (p.Ser2042=)
c.3433A>G
n.2521A>G
c.7083A>G (p.Ser2361=)
 dbSNP
11g.121187973A>TCA477209255TBCEL-TECTA,TECTAc.6141A>T (p.Ser2047=)
c.6126A>T (p.Ser2042=)
c.3433A>T
n.2521A>T
c.7083A>T (p.Ser2361=)
11g.121187974G>ACA383009834TBCEL-TECTA,TECTAc.6142G>A (p.Glu2048Lys)
c.6127G>A (p.Glu2043Lys)
c.3434G>A
n.2522G>A
c.7084G>A (p.Glu2362Lys)
11g.121187974G>CCA383009835TBCEL-TECTA,TECTAc.6142G>C (p.Glu2048Gln)
c.6127G>C (p.Glu2043Gln)
c.3434G>C
n.2522G>C
c.7084G>C (p.Glu2362Gln)
11g.121187974G>TCA383009836TBCEL-TECTA,TECTAc.6142G>T (p.Glu2048Ter)
c.6127G>T (p.Glu2043Ter)
c.3434G>T
n.2522G>T
c.7084G>T (p.Glu2362Ter)
11g.121187975A>CCA383009837TBCEL-TECTA,TECTAc.6143A>C (p.Glu2048Ala)
c.6128A>C (p.Glu2043Ala)
c.3435A>C
n.2523A>C
c.7085A>C (p.Glu2362Ala)
11g.121187975A>GCA383009838TBCEL-TECTA,TECTAc.6143A>G (p.Glu2048Gly)
c.6128A>G (p.Glu2043Gly)
c.3435A>G
n.2523A>G
c.7085A>G (p.Glu2362Gly)
11g.121187975A>TCA383009839TBCEL-TECTA,TECTAc.6143A>T (p.Glu2048Val)
c.6128A>T (p.Glu2043Val)
c.3435A>T
n.2523A>T
c.7085A>T (p.Glu2362Val)
11g.121187976A>CCA383009840TBCEL-TECTA,TECTAc.6144A>C (p.Glu2048Asp)
c.6129A>C (p.Glu2043Asp)
c.3436A>C
n.2524A>C
c.7086A>C (p.Glu2362Asp)
11g.121187976A>GCA477209259TBCEL-TECTA,TECTAc.6144A>G (p.Glu2048=)
c.6129A>G (p.Glu2043=)
c.3436A>G
n.2524A>G
c.7086A>G (p.Glu2362=)
11g.121187976A>TCA383009841TBCEL-TECTA,TECTAc.6144A>T (p.Glu2048Asp)
c.6129A>T (p.Glu2043Asp)
c.3436A>T
n.2524A>T
c.7086A>T (p.Glu2362Asp)
11g.121187977A>CCA383009842TBCEL-TECTA,TECTAc.6145A>C (p.Lys2049Gln)
c.6130A>C (p.Lys2044Gln)
c.3437A>C
n.2525A>C
c.7087A>C (p.Lys2363Gln)
11g.121187977A>GCA383009843TBCEL-TECTA,TECTAc.6145A>G (p.Lys2049Glu)
c.6130A>G (p.Lys2044Glu)
c.3437A>G
n.2525A>G
c.7087A>G (p.Lys2363Glu)
11g.121187977A>TCA383009844TBCEL-TECTA,TECTAc.6145A>T (p.Lys2049Ter)
c.6130A>T (p.Lys2044Ter)
c.3437A>T
n.2525A>T
c.7087A>T (p.Lys2363Ter)
11g.121187978A>CCA383009846TBCEL-TECTA,TECTAc.6146A>C (p.Lys2049Thr)
c.6131A>C (p.Lys2044Thr)
c.3438A>C
n.2526A>C
c.7088A>C (p.Lys2363Thr)
11g.121187978A>GCA383009847TBCEL-TECTA,TECTAc.6146A>G (p.Lys2049Arg)
c.6131A>G (p.Lys2044Arg)
c.3438A>G
n.2526A>G
c.7088A>G (p.Lys2363Arg)
 gnomAD v4
11g.121187978A>TCA383009845TBCEL-TECTA,TECTAc.6146A>T (p.Lys2049Met)
c.6131A>T (p.Lys2044Met)
c.3438A>T
n.2526A>T
c.7088A>T (p.Lys2363Met)
11g.121187978_121187986delinsAGTACTCCTCA2004763186TBCEL-TECTA,TECTAc.6146_6154delinsAGTACTCCT (p.Lys2049=)
c.6131_6139delinsAGTACTCCT (p.Lys2044=)
c.3438_3446delinsAGTACTCCT
n.2526_2534delinsAGTACTCCT
c.7088_7096delinsAGTACTCCT (p.Lys2363=)
11g.121187979G>ACA477209263TBCEL-TECTA,TECTAc.6147G>A (p.Lys2049=)
c.6132G>A (p.Lys2044=)
c.3439G>A
n.2527G>A
c.7089G>A (p.Lys2363=)
11g.121187979G>CCA383009849TBCEL-TECTA,TECTAc.6147G>C (p.Lys2049Asn)
c.6132G>C (p.Lys2044Asn)
c.3439G>C
n.2527G>C
c.7089G>C (p.Lys2363Asn)
11g.121187979G>TCA383009848TBCEL-TECTA,TECTAc.6147G>T (p.Lys2049Asn)
c.6132G>T (p.Lys2044Asn)
c.3439G>T
n.2527G>T
c.7089G>T (p.Lys2363Asn)
11g.121187982_121187989delCA229828447TBCEL-TECTA,TECTAc.6150_6157del (p.Tyr2050Ter)
c.6135_6142del (p.Tyr2045Ter)
c.3442_3449del
n.2530_2537del
c.7092_7099del (p.Tyr2364Ter)
 dbSNP gnomAD v4
11g.121187980T>ACA383009850TBCEL-TECTA,TECTAc.6148T>A (p.Tyr2050Asn)
c.6133T>A (p.Tyr2045Asn)
c.3440T>A
n.2528T>A
c.7090T>A (p.Tyr2364Asn)
11g.121187980T>CCA383009852TBCEL-TECTA,TECTAc.6148T>C (p.Tyr2050His)
c.6133T>C (p.Tyr2045His)
c.3440T>C
n.2528T>C
c.7090T>C (p.Tyr2364His)
11g.121187980T>GCA383009851TBCEL-TECTA,TECTAc.6148T>G (p.Tyr2050Asp)
c.6133T>G (p.Tyr2045Asp)
c.3440T>G
n.2528T>G
c.7090T>G (p.Tyr2364Asp)
11g.121187981A>CCA383009853TBCEL-TECTA,TECTAc.6149A>C (p.Tyr2050Ser)
c.6134A>C (p.Tyr2045Ser)
c.3441A>C
n.2529A>C
c.7091A>C (p.Tyr2364Ser)
11g.121187981A>GCA383009854TBCEL-TECTA,TECTAc.6149A>G (p.Tyr2050Cys)
c.6134A>G (p.Tyr2045Cys)
c.3441A>G
n.2529A>G
c.7091A>G (p.Tyr2364Cys)
11g.121187981A>TCA383009855TBCEL-TECTA,TECTAc.6149A>T (p.Tyr2050Phe)
c.6134A>T (p.Tyr2045Phe)
c.3441A>T
n.2529A>T
c.7091A>T (p.Tyr2364Phe)
11g.121187982C>ACA6327890TBCEL-TECTA,TECTAc.6150C>A (p.Tyr2050Ter)
c.6135C>A (p.Tyr2045Ter)
c.3442C>A
n.2530C>A
c.7092C>A (p.Tyr2364Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121187982C=CA2004763187TBCEL-TECTA,TECTAc.6150C= (p.Tyr2050=)
c.6135C= (p.Tyr2045=)
c.3442C=
n.2530C=
c.7092C= (p.Tyr2364=)
11g.121187982C>GCA383009856TBCEL-TECTA,TECTAc.6150C>G (p.Tyr2050Ter)
c.6135C>G (p.Tyr2045Ter)
c.3442C>G
n.2530C>G
c.7092C>G (p.Tyr2364Ter)
11g.121187982C>TCA477209271TBCEL-TECTA,TECTAc.6150C>T (p.Tyr2050=)
c.6135C>T (p.Tyr2045=)
c.3442C>T
n.2530C>T
c.7092C>T (p.Tyr2364=)
 ClinVar dbSNP
11g.121187983T>ACA383009859TBCEL-TECTA,TECTAc.6151T>A (p.Ser2051Thr)
c.6136T>A (p.Ser2046Thr)
c.3443T>A
n.2531T>A
c.7093T>A (p.Ser2365Thr)
11g.121187983T>CCA383009858TBCEL-TECTA,TECTAc.6151T>C (p.Ser2051Pro)
c.6136T>C (p.Ser2046Pro)
c.3443T>C
n.2531T>C
c.7093T>C (p.Ser2365Pro)
 ClinVar
11g.121187983T>GCA383009857TBCEL-TECTA,TECTAc.6151T>G (p.Ser2051Ala)
c.6136T>G (p.Ser2046Ala)
c.3443T>G
n.2531T>G
c.7093T>G (p.Ser2365Ala)
 gnomAD v4
11g.121187984C>ACA383009860TBCEL-TECTA,TECTAc.6152C>A (p.Ser2051Tyr)
c.6137C>A (p.Ser2046Tyr)
c.3444C>A
n.2532C>A
c.7094C>A (p.Ser2365Tyr)
11g.121187984C=CA2004763188TBCEL-TECTA,TECTAc.6152C= (p.Ser2051=)
c.6137C= (p.Ser2046=)
c.3444C=
n.2532C=
c.7094C= (p.Ser2365=)
11g.121187984C>GCA16621630TBCEL-TECTA,TECTAc.6152C>G (p.Ser2051Cys)
c.6137C>G (p.Ser2046Cys)
c.3444C>G
n.2532C>G
c.7094C>G (p.Ser2365Cys)
 ClinVar dbSNP
11g.121187984C>TCA383009861TBCEL-TECTA,TECTAc.6152C>T (p.Ser2051Phe)
c.6137C>T (p.Ser2046Phe)
c.3444C>T
n.2532C>T
c.7094C>T (p.Ser2365Phe)
 dbSNP gnomAD v2 gnomAD v4
11g.121187985C>ACA477209274TBCEL-TECTA,TECTAc.6153C>A (p.Ser2051=)
c.6138C>A (p.Ser2046=)
c.3445C>A
n.2533C>A
c.7095C>A (p.Ser2365=)
11g.121187985C>GCA477209275TBCEL-TECTA,TECTAc.6153C>G (p.Ser2051=)
c.6138C>G (p.Ser2046=)
c.3445C>G
n.2533C>G
c.7095C>G (p.Ser2365=)
11g.121187985C>TCA477209277TBCEL-TECTA,TECTAc.6153C>T (p.Ser2051=)
c.6138C>T (p.Ser2046=)
c.3445C>T
n.2533C>T
c.7095C>T (p.Ser2365=)
 COSMIC
11g.121187986T>ACA383009862TBCEL-TECTA,TECTAc.6154T>A (p.Cys2052Ser)
c.6139T>A (p.Cys2047Ser)
c.3446T>A
n.2534T>A
c.7096T>A (p.Cys2366Ser)
11g.121187986T>CCA383009863TBCEL-TECTA,TECTAc.6154T>C (p.Cys2052Arg)
c.6139T>C (p.Cys2047Arg)
c.3446T>C
n.2534T>C
c.7096T>C (p.Cys2366Arg)
11g.121187986T>GCA383009864TBCEL-TECTA,TECTAc.6154T>G (p.Cys2052Gly)
c.6139T>G (p.Cys2047Gly)
c.3446T>G
n.2534T>G
c.7096T>G (p.Cys2366Gly)
11g.121187987G>ACA273240TBCEL-TECTA,TECTAc.6155G>A (p.Cys2052Tyr)
c.6140G>A (p.Cys2047Tyr)
c.3447G>A
n.2535G>A
c.7097G>A (p.Cys2366Tyr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.121187987G>CCA383009865TBCEL-TECTA,TECTAc.6155G>C (p.Cys2052Ser)
c.6140G>C (p.Cys2047Ser)
c.3447G>C
n.2535G>C
c.7097G>C (p.Cys2366Ser)
11g.121187987G=CA2004763189TBCEL-TECTA,TECTAc.6155G= (p.Cys2052=)
c.6140G= (p.Cys2047=)
c.3447G=
n.2535G=
c.7097G= (p.Cys2366=)
11g.121187987G>TCA383009866TBCEL-TECTA,TECTAc.6155G>T (p.Cys2052Phe)
c.6140G>T (p.Cys2047Phe)
c.3447G>T
n.2535G>T
c.7097G>T (p.Cys2366Phe)
11g.121187988T>ACA383009867TBCEL-TECTA,TECTAc.6156T>A (p.Cys2052Ter)
c.6141T>A (p.Cys2047Ter)
c.3448T>A
n.2536T>A
c.7098T>A (p.Cys2366Ter)
11g.121187988T>CCA6327891TBCEL-TECTA,TECTAc.6156T>C (p.Cys2052=)
c.6141T>C (p.Cys2047=)
c.3448T>C
n.2536T>C
c.7098T>C (p.Cys2366=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121187988T>GCA383009868TBCEL-TECTA,TECTAc.6156T>G (p.Cys2052Trp)
c.6141T>G (p.Cys2047Trp)
c.3448T>G
n.2536T>G
c.7098T>G (p.Cys2366Trp)
11g.121187988T=CA2004763190TBCEL-TECTA,TECTAc.6156T= (p.Cys2052=)
c.6141T= (p.Cys2047=)
c.3448T=
n.2536T=
c.7098T= (p.Cys2366=)
11g.121187988_121187998delinsGCA2695215871TBCEL-TECTA,TECTAc.6156_6162+4delinsG
c.6141_6147+4delinsG
c.3448_3454+4delinsG
n.2536_2542+4delinsG
c.7098_7104+4delinsG
11g.121187989A>CCA383009869TBCEL-TECTA,TECTAc.6157A>C (p.Lys2053Gln)
c.6142A>C (p.Lys2048Gln)
c.3449A>C
n.2537A>C
c.7099A>C (p.Lys2367Gln)
11g.121187989A>GCA383009870TBCEL-TECTA,TECTAc.6157A>G (p.Lys2053Glu)
c.6142A>G (p.Lys2048Glu)
c.3449A>G
n.2537A>G
c.7099A>G (p.Lys2367Glu)
11g.121187989A>TCA383009871TBCEL-TECTA,TECTAc.6157A>T (p.Lys2053Ter)
c.6142A>T (p.Lys2048Ter)
c.3449A>T
n.2537A>T
c.7099A>T (p.Lys2367Ter)
11g.121187992dupCA6327892TBCEL-TECTA,TECTAc.6160dup (p.Ile2054AsnfsTer28)
c.6145dup (p.Ile2049AsnfsTer28)
c.3452dup
n.2540dup
c.7102dup (p.Ile2368AsnfsTer28)
 dbSNP ExAC gnomAD v2
11g.121187990A>CCA383009872TBCEL-TECTA,TECTAc.6158A>C (p.Lys2053Thr)
c.6143A>C (p.Lys2048Thr)
c.3450A>C
n.2538A>C
c.7100A>C (p.Lys2367Thr)
11g.121187990A>GCA383009873TBCEL-TECTA,TECTAc.6158A>G (p.Lys2053Arg)
c.6143A>G (p.Lys2048Arg)
c.3450A>G
n.2538A>G
c.7100A>G (p.Lys2367Arg)
11g.121187990A>TCA383009874TBCEL-TECTA,TECTAc.6158A>T (p.Lys2053Ile)
c.6143A>T (p.Lys2048Ile)
c.3450A>T
n.2538A>T
c.7100A>T (p.Lys2367Ile)
11g.121187991A=CA2004763191TBCEL-TECTA,TECTAc.6159A= (p.Lys2053=)
c.6144A= (p.Lys2048=)
c.3451A=
n.2539A=
c.7101A= (p.Lys2367=)
11g.121187991A>CCA383009875TBCEL-TECTA,TECTAc.6159A>C (p.Lys2053Asn)
c.6144A>C (p.Lys2048Asn)
c.3451A>C
n.2539A>C
c.7101A>C (p.Lys2367Asn)
11g.121187991A>GCA477209287TBCEL-TECTA,TECTAc.6159A>G (p.Lys2053=)
c.6144A>G (p.Lys2048=)
c.3451A>G
n.2539A>G
c.7101A>G (p.Lys2367=)
11g.121187991A>TCA383009876TBCEL-TECTA,TECTAc.6159A>T (p.Lys2053Asn)
c.6144A>T (p.Lys2048Asn)
c.3451A>T
n.2539A>T
c.7101A>T (p.Lys2367Asn)
 dbSNP gnomAD v4
11g.121187992A>CCA383009877TBCEL-TECTA,TECTAc.6160A>C (p.Ile2054Leu)
c.6145A>C (p.Ile2049Leu)
c.3452A>C
n.2540A>C
c.7102A>C (p.Ile2368Leu)
11g.121187992A>GCA383009879TBCEL-TECTA,TECTAc.6160A>G (p.Ile2054Val)
c.6145A>G (p.Ile2049Val)
c.3452A>G
n.2540A>G
c.7102A>G (p.Ile2368Val)
11g.121187992A>TCA383009878TBCEL-TECTA,TECTAc.6160A>T (p.Ile2054Phe)
c.6145A>T (p.Ile2049Phe)
c.3452A>T
n.2540A>T
c.7102A>T (p.Ile2368Phe)
11g.121187993T>ACA383009880TBCEL-TECTA,TECTAc.6161T>A (p.Ile2054Asn)
c.6146T>A (p.Ile2049Asn)
c.3453T>A
n.2541T>A
c.7103T>A (p.Ile2368Asn)
11g.121187993T>CCA383009881TBCEL-TECTA,TECTAc.6161T>C (p.Ile2054Thr)
c.6146T>C (p.Ile2049Thr)
c.3453T>C
n.2541T>C
c.7103T>C (p.Ile2368Thr)
11g.121187993T>GCA383009882TBCEL-TECTA,TECTAc.6161T>G (p.Ile2054Ser)
c.6146T>G (p.Ile2049Ser)
c.3453T>G
n.2541T>G
c.7103T>G (p.Ile2368Ser)
11g.121187994C>ACA477209289TBCEL-TECTA,TECTAc.6162C>A (p.Ile2054=)
c.6147C>A (p.Ile2049=)
c.3454C>A
n.2542C>A
c.7104C>A (p.Ile2368=)
11g.121187994C=CA2004763192TBCEL-TECTA,TECTAc.6162C= (p.Ile2054=)
c.6147C= (p.Ile2049=)
c.3454C=
n.2542C=
c.7104C= (p.Ile2368=)
11g.121187994C>GCA383009883TBCEL-TECTA,TECTAc.6162C>G (p.Ile2054Met)
c.6147C>G (p.Ile2049Met)
c.3454C>G
n.2542C>G
c.7104C>G (p.Ile2368Met)
11g.121187994C>TCA6327893TBCEL-TECTA,TECTAc.6162C>T (p.Ile2054=)
c.6147C>T (p.Ile2049=)
c.3454C>T
n.2542C>T
c.7104C>T (p.Ile2368=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.121187994_121187998delinsCGTAACA2004763193TBCEL-TECTA,TECTAc.6162_6162+4delinsCGTAA
c.6147_6147+4delinsCGTAA
c.3454_3454+4delinsCGTAA
n.2542_2542+4delinsCGTAA
c.7104_7104+4delinsCGTAA

Number of alleles fetched