Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.77508322dupCA643006399ATRXc.*32dup (n.*32dup)
c.*7139dup (n.*7139dup)
n.5831dup
n.9103dup
n.7810dup
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.77508322T>ACA2694139227ATRXc.*29A>T (n.*29A>T)
c.*7136A>T (n.*7136A>T)
n.5828A>T
n.9100A>T
n.7807A>T
 gnomAD v4
Xg.77508322T>CCA10457368ATRXc.*29A>G (n.*29A>G)
c.*7136A>G (n.*7136A>G)
n.5828A>G
n.9100A>G
n.7807A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.77508322T=CA2438929000ATRXc.*29A= (n.*29A=)
c.*7136A= (n.*7136A=)
n.5828A=
n.9100A=
n.7807A=
Xg.77508325C>ACA878452687ATRXc.*26G>T (n.*26G>T)
c.*7133G>T (n.*7133G>T)
n.5825G>T
n.9097G>T
n.7804G>T
 dbSNP
Xg.77508325C=CA2438929001ATRXc.*26G= (n.*26G=)
c.*7133G= (n.*7133G=)
n.5825G=
n.9097G=
n.7804G=
Xg.77508325C>TCA10457369ATRXc.*26G>A (n.*26G>A)
c.*7133G>A (n.*7133G>A)
n.5825G>A
n.9097G>A
n.7804G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.77508327_77508328delinsATCA2438929002ATRXc.*23_*24delinsAT (n.*23_*24delinsAT)
c.*7130_*7131delinsAT (n.*7130_*7131delinsAT)
n.5822_5823delinsAT
n.9094_9095delinsAT
n.7801_7802delinsAT
Xg.77508327_77508328insCCA2545651797ATRXc.*23_*24insG (n.*23_*24insG)
c.*7130_*7131insG (n.*7130_*7131insG)
n.5822_5823insG
n.9094_9095insG
n.7801_7802insG
Xg.77508328delCA2438929003ATRXc.*23del (n.*23del)
c.*7130del (n.*7130del)
n.5822del
n.9094del
n.7801del
 dbSNP gnomAD v4
Xg.77508330delCA2694139228ATRXc.*22del (n.*22del)
c.*7129del (n.*7129del)
n.5821del
n.9093del
n.7800del
 gnomAD v4
Xg.77508330C=CA2438929004ATRXc.*21G= (n.*21G=)
c.*7128G= (n.*7128G=)
n.5820G=
n.9092G=
n.7799G=
Xg.77508330C>TCA2438929005ATRXc.*21G>A (n.*21G>A)
c.*7128G>A (n.*7128G>A)
n.5820G>A
n.9092G>A
n.7799G>A
 dbSNP
Xg.77508331A>TCA2513502861ATRXc.*20T>A (n.*20T>A)
c.*7127T>A (n.*7127T>A)
n.5819T>A
n.9091T>A
n.7798T>A
Xg.77508332T>CCA1134479880ATRXc.*19A>G (n.*19A>G)
c.*7126A>G (n.*7126A>G)
n.5818A>G
n.9090A>G
n.7797A>G
 dbSNP gnomAD v3 gnomAD v4
Xg.77508332T=CA2438929006ATRXc.*19A= (n.*19A=)
c.*7126A= (n.*7126A=)
n.5818A=
n.9090A=
n.7797A=
Xg.77508335dupCA2579648635ATRXc.*17dup (n.*17dup)
c.*7124dup (n.*7124dup)
n.5816dup
n.9088dup
n.7795dup
Xg.77508335A=CA2438929007ATRXc.*16T= (n.*16T=)
c.*7123T= (n.*7123T=)
n.5815T=
n.9087T=
n.7794T=
Xg.77508335A>CCA2438929008ATRXc.*16T>G (n.*16T>G)
c.*7123T>G (n.*7123T>G)
n.5815T>G
n.9087T>G
n.7794T>G
 dbSNP gnomAD v4
Xg.77508335A>GCA2559533514ATRXc.*16T>C (n.*16T>C)
c.*7123T>C (n.*7123T>C)
n.5815T>C
n.9087T>C
n.7794T>C
Xg.77508336G>ACA2694139229ATRXc.*15C>T (n.*15C>T)
c.*7122C>T (n.*7122C>T)
n.5814C>T
n.9086C>T
n.7793C>T
 gnomAD v4
Xg.77508336G>TCA2564508273ATRXc.*15C>A (n.*15C>A)
c.*7122C>A (n.*7122C>A)
n.5814C>A
n.9086C>A
n.7793C>A
Xg.77508338T>CCA10457370ATRXc.*13A>G (n.*13A>G)
c.*7120A>G (n.*7120A>G)
n.5812A>G
n.9084A>G
n.7791A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.77508338T=CA2438929009ATRXc.*13A= (n.*13A=)
c.*7120A= (n.*7120A=)
n.5812A=
n.9084A=
n.7791A=
Xg.77508340T>GCA331560030ATRXc.*11A>C (n.*11A>C)
c.*7118A>C (n.*7118A>C)
n.5810A>C
n.9082A>C
n.7789A>C
 dbSNP
Xg.77508340T=CA2438929010ATRXc.*11A= (n.*11A=)
c.*7118A= (n.*7118A=)
n.5810A=
n.9082A=
n.7789A=
Xg.77508341T>CCA331560031ATRXc.*10A>G (n.*10A>G)
c.*7117A>G (n.*7117A>G)
n.5809A>G
n.9081A>G
n.7788A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.77508341T=CA2438929011ATRXc.*10A= (n.*10A=)
c.*7117A= (n.*7117A=)
n.5809A=
n.9081A=
n.7788A=
Xg.77508342A>TCA2738724149ATRXc.*9T>A (n.*9T>A)
c.*7116T>A (n.*7116T>A)
n.5808T>A
n.9080T>A
n.7787T>A
 dbSNP
Xg.77508344T>CCA2579648636ATRXc.*7A>G (n.*7A>G)
c.*7114A>G (n.*7114A>G)
n.5806A>G
n.9078A>G
n.7785A>G
Xg.77508345G>ACA2738724151ATRXc.*6C>T (n.*6C>T)
c.*7113C>T (n.*7113C>T)
n.5805C>T
n.9077C>T
n.7784C>T
 dbSNP
Xg.77508346C>ACA2438929013ATRXc.*5G>T (n.*5G>T)
c.*7112G>T (n.*7112G>T)
n.5804G>T
n.9076G>T
n.7783G>T
 dbSNP
Xg.77508346C=CA2438929012ATRXc.*5G= (n.*5G=)
c.*7112G= (n.*7112G=)
n.5804G=
n.9076G=
n.7783G=
Xg.77508346C>GCA2694139230ATRXc.*5G>C (n.*5G>C)
c.*7112G>C (n.*7112G>C)
n.5804G>C
n.9076G>C
n.7783G>C
 gnomAD v4
Xg.77508346C>TCA2738571424ATRXc.*5G>A (n.*5G>A)
c.*7112G>A (n.*7112G>A)
n.5804G>A
n.9076G>A
n.7783G>A
 dbSNP
Xg.77508347A=CA2438929014ATRXc.*4T= (n.*4T=)
c.*7111T= (n.*7111T=)
n.5803T=
n.9075T=
n.7782T=
Xg.77508347A>GCA643006400ATRXc.*4T>C (n.*4T>C)
c.*7111T>C (n.*7111T>C)
n.5803T>C
n.9075T>C
n.7782T>C
 dbSNP gnomAD v2 gnomAD v4
Xg.77508350dupCA10457371ATRXc.*4dup (n.*4dup)
c.*7111dup (n.*7111dup)
n.5803dup
n.9075dup
n.7782dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.77508351T>ACA413703300ATRXc.7479A>T (p.Ter2493Cys)
c.2577A>T (p.Ter859Cys)
c.7365A>T (p.Ter2455Cys)
c.*7107A>T (n.*7107A>T)
n.5799A>T
c.7476A>T (p.Ter2492Cys)
c.7392A>T (p.Ter2464Cys)
c.7362A>T (p.Ter2454Cys)
c.7314A>T (p.Ter2438Cys)
c.7275A>T (p.Ter2425Cys)
c.7200A>T (p.Ter2400Cys)
n.9071A>T
c.7389A>T (p.Ter2463Cys)
c.7359A>T (p.Ter2453Cys)
c.7311A>T (p.Ter2437Cys)
c.7278A>T (p.Ter2426Cys)
c.7248A>T (p.Ter2416Cys)
c.7245A>T (p.Ter2415Cys)
c.7197A>T (p.Ter2399Cys)
c.7161A>T (p.Ter2387Cys)
c.7158A>T (p.Ter2386Cys)
c.7113A>T (p.Ter2371Cys)
n.7778A>T
Xg.77508351T>CCA413703304ATRXc.7479A>G (p.Ter2493Trp)
c.2577A>G (p.Ter859Trp)
c.7365A>G (p.Ter2455Trp)
c.*7107A>G (n.*7107A>G)
n.5799A>G
c.7476A>G (p.Ter2492Trp)
c.7392A>G (p.Ter2464Trp)
c.7362A>G (p.Ter2454Trp)
c.7314A>G (p.Ter2438Trp)
c.7275A>G (p.Ter2425Trp)
c.7200A>G (p.Ter2400Trp)
n.9071A>G
c.7389A>G (p.Ter2463Trp)
c.7359A>G (p.Ter2453Trp)
c.7311A>G (p.Ter2437Trp)
c.7278A>G (p.Ter2426Trp)
c.7248A>G (p.Ter2416Trp)
c.7245A>G (p.Ter2415Trp)
c.7197A>G (p.Ter2399Trp)
c.7161A>G (p.Ter2387Trp)
c.7158A>G (p.Ter2386Trp)
c.7113A>G (p.Ter2371Trp)
n.7778A>G
Xg.77508351T>GCA413703307ATRXc.7479A>C (p.Ter2493Cys)
c.2577A>C (p.Ter859Cys)
c.7365A>C (p.Ter2455Cys)
c.*7107A>C (n.*7107A>C)
n.5799A>C
c.7476A>C (p.Ter2492Cys)
c.7392A>C (p.Ter2464Cys)
c.7362A>C (p.Ter2454Cys)
c.7314A>C (p.Ter2438Cys)
c.7275A>C (p.Ter2425Cys)
c.7200A>C (p.Ter2400Cys)
n.9071A>C
c.7389A>C (p.Ter2463Cys)
c.7359A>C (p.Ter2453Cys)
c.7311A>C (p.Ter2437Cys)
c.7278A>C (p.Ter2426Cys)
c.7248A>C (p.Ter2416Cys)
c.7245A>C (p.Ter2415Cys)
c.7197A>C (p.Ter2399Cys)
c.7161A>C (p.Ter2387Cys)
c.7158A>C (p.Ter2386Cys)
c.7113A>C (p.Ter2371Cys)
n.7778A>C
Xg.77508352C>ACA413703312ATRXc.7478G>T (p.Ter2493Leu)
c.2576G>T (p.Ter859Leu)
c.7364G>T (p.Ter2455Leu)
c.*7106G>T (n.*7106G>T)
n.5798G>T
c.7475G>T (p.Ter2492Leu)
c.7391G>T (p.Ter2464Leu)
c.7361G>T (p.Ter2454Leu)
c.7313G>T (p.Ter2438Leu)
c.7274G>T (p.Ter2425Leu)
c.7199G>T (p.Ter2400Leu)
n.9070G>T
c.7388G>T (p.Ter2463Leu)
c.7358G>T (p.Ter2453Leu)
c.7310G>T (p.Ter2437Leu)
c.7277G>T (p.Ter2426Leu)
c.7247G>T (p.Ter2416Leu)
c.7244G>T (p.Ter2415Leu)
c.7196G>T (p.Ter2399Leu)
c.7160G>T (p.Ter2387Leu)
c.7157G>T (p.Ter2386Leu)
c.7112G>T (p.Ter2371Leu)
n.7777G>T
Xg.77508352C>GCA413703311ATRXc.7478G>C (p.Ter2493Ser)
c.2576G>C (p.Ter859Ser)
c.7364G>C (p.Ter2455Ser)
c.*7106G>C (n.*7106G>C)
n.5798G>C
c.7475G>C (p.Ter2492Ser)
c.7391G>C (p.Ter2464Ser)
c.7361G>C (p.Ter2454Ser)
c.7313G>C (p.Ter2438Ser)
c.7274G>C (p.Ter2425Ser)
c.7199G>C (p.Ter2400Ser)
n.9070G>C
c.7388G>C (p.Ter2463Ser)
c.7358G>C (p.Ter2453Ser)
c.7310G>C (p.Ter2437Ser)
c.7277G>C (p.Ter2426Ser)
c.7247G>C (p.Ter2416Ser)
c.7244G>C (p.Ter2415Ser)
c.7196G>C (p.Ter2399Ser)
c.7160G>C (p.Ter2387Ser)
c.7157G>C (p.Ter2386Ser)
c.7112G>C (p.Ter2371Ser)
n.7777G>C
Xg.77508352C>TCA517373944ATRXc.7478G>A (p.Ter2493=)
c.2576G>A (p.Ter859=)
c.7364G>A (p.Ter2455=)
c.*7106G>A (n.*7106G>A)
n.5798G>A
c.7475G>A (p.Ter2492=)
c.7391G>A (p.Ter2464=)
c.7361G>A (p.Ter2454=)
c.7313G>A (p.Ter2438=)
c.7274G>A (p.Ter2425=)
c.7199G>A (p.Ter2400=)
n.9070G>A
c.7388G>A (p.Ter2463=)
c.7358G>A (p.Ter2453=)
c.7310G>A (p.Ter2437=)
c.7277G>A (p.Ter2426=)
c.7247G>A (p.Ter2416=)
c.7244G>A (p.Ter2415=)
c.7196G>A (p.Ter2399=)
c.7160G>A (p.Ter2387=)
c.7157G>A (p.Ter2386=)
c.7112G>A (p.Ter2371=)
n.7777G>A
Xg.77508353A>CCA413703313ATRXc.7477T>G (p.Ter2493Gly)
c.2575T>G (p.Ter859Gly)
c.7363T>G (p.Ter2455Gly)
c.*7105T>G (n.*7105T>G)
n.5797T>G
c.7474T>G (p.Ter2492Gly)
c.7390T>G (p.Ter2464Gly)
c.7360T>G (p.Ter2454Gly)
c.7312T>G (p.Ter2438Gly)
c.7273T>G (p.Ter2425Gly)
c.7198T>G (p.Ter2400Gly)
n.9069T>G
c.7387T>G (p.Ter2463Gly)
c.7357T>G (p.Ter2453Gly)
c.7309T>G (p.Ter2437Gly)
c.7276T>G (p.Ter2426Gly)
c.7246T>G (p.Ter2416Gly)
c.7243T>G (p.Ter2415Gly)
c.7195T>G (p.Ter2399Gly)
c.7159T>G (p.Ter2387Gly)
c.7156T>G (p.Ter2386Gly)
c.7111T>G (p.Ter2371Gly)
n.7776T>G
Xg.77508353A>GCA413703316ATRXc.7477T>C (p.Ter2493Arg)
c.2575T>C (p.Ter859Arg)
c.7363T>C (p.Ter2455Arg)
c.*7105T>C (n.*7105T>C)
n.5797T>C
c.7474T>C (p.Ter2492Arg)
c.7390T>C (p.Ter2464Arg)
c.7360T>C (p.Ter2454Arg)
c.7312T>C (p.Ter2438Arg)
c.7273T>C (p.Ter2425Arg)
c.7198T>C (p.Ter2400Arg)
n.9069T>C
c.7387T>C (p.Ter2463Arg)
c.7357T>C (p.Ter2453Arg)
c.7309T>C (p.Ter2437Arg)
c.7276T>C (p.Ter2426Arg)
c.7246T>C (p.Ter2416Arg)
c.7243T>C (p.Ter2415Arg)
c.7195T>C (p.Ter2399Arg)
c.7159T>C (p.Ter2387Arg)
c.7156T>C (p.Ter2386Arg)
c.7111T>C (p.Ter2371Arg)
n.7776T>C
Xg.77508353A>TCA413703338ATRXc.7477T>A (p.Ter2493Arg)
c.2575T>A (p.Ter859Arg)
c.7363T>A (p.Ter2455Arg)
c.*7105T>A (n.*7105T>A)
n.5797T>A
c.7474T>A (p.Ter2492Arg)
c.7390T>A (p.Ter2464Arg)
c.7360T>A (p.Ter2454Arg)
c.7312T>A (p.Ter2438Arg)
c.7273T>A (p.Ter2425Arg)
c.7198T>A (p.Ter2400Arg)
n.9069T>A
c.7387T>A (p.Ter2463Arg)
c.7357T>A (p.Ter2453Arg)
c.7309T>A (p.Ter2437Arg)
c.7276T>A (p.Ter2426Arg)
c.7246T>A (p.Ter2416Arg)
c.7243T>A (p.Ter2415Arg)
c.7195T>A (p.Ter2399Arg)
c.7159T>A (p.Ter2387Arg)
c.7156T>A (p.Ter2386Arg)
c.7111T>A (p.Ter2371Arg)
n.7776T>A
Xg.77508354C>ACA413703339ATRXc.7476G>T (p.Met2492Ile)
c.2574G>T (p.Met858Ile)
c.7362G>T (p.Met2454Ile)
c.*7104G>T (n.*7104G>T)
n.5796G>T
c.7473G>T (p.Met2491Ile)
c.7389G>T (p.Met2463Ile)
c.7359G>T (p.Met2453Ile)
c.7311G>T (p.Met2437Ile)
c.7272G>T (p.Met2424Ile)
c.7197G>T (p.Met2399Ile)
n.9068G>T
c.7386G>T (p.Met2462Ile)
c.7356G>T (p.Met2452Ile)
c.7308G>T (p.Met2436Ile)
c.7275G>T (p.Met2425Ile)
c.7245G>T (p.Met2415Ile)
c.7242G>T (p.Met2414Ile)
c.7194G>T (p.Met2398Ile)
c.7158G>T (p.Met2386Ile)
c.7155G>T (p.Met2385Ile)
c.7110G>T (p.Met2370Ile)
n.7775G>T
Xg.77508354C>GCA413703340ATRXc.7476G>C (p.Met2492Ile)
c.2574G>C (p.Met858Ile)
c.7362G>C (p.Met2454Ile)
c.*7104G>C (n.*7104G>C)
n.5796G>C
c.7473G>C (p.Met2491Ile)
c.7389G>C (p.Met2463Ile)
c.7359G>C (p.Met2453Ile)
c.7311G>C (p.Met2437Ile)
c.7272G>C (p.Met2424Ile)
c.7197G>C (p.Met2399Ile)
n.9068G>C
c.7386G>C (p.Met2462Ile)
c.7356G>C (p.Met2452Ile)
c.7308G>C (p.Met2436Ile)
c.7275G>C (p.Met2425Ile)
c.7245G>C (p.Met2415Ile)
c.7242G>C (p.Met2414Ile)
c.7194G>C (p.Met2398Ile)
c.7158G>C (p.Met2386Ile)
c.7155G>C (p.Met2385Ile)
c.7110G>C (p.Met2370Ile)
n.7775G>C
Xg.77508354C>TCA413703344ATRXc.7476G>A (p.Met2492Ile)
c.2574G>A (p.Met858Ile)
c.7362G>A (p.Met2454Ile)
c.*7104G>A (n.*7104G>A)
n.5796G>A
c.7473G>A (p.Met2491Ile)
c.7389G>A (p.Met2463Ile)
c.7359G>A (p.Met2453Ile)
c.7311G>A (p.Met2437Ile)
c.7272G>A (p.Met2424Ile)
c.7197G>A (p.Met2399Ile)
n.9068G>A
c.7386G>A (p.Met2462Ile)
c.7356G>A (p.Met2452Ile)
c.7308G>A (p.Met2436Ile)
c.7275G>A (p.Met2425Ile)
c.7245G>A (p.Met2415Ile)
c.7242G>A (p.Met2414Ile)
c.7194G>A (p.Met2398Ile)
c.7158G>A (p.Met2386Ile)
c.7155G>A (p.Met2385Ile)
c.7110G>A (p.Met2370Ile)
n.7775G>A
Xg.77508355A>CCA413703351ATRXc.7475T>G (p.Met2492Arg)
c.2573T>G (p.Met858Arg)
c.7361T>G (p.Met2454Arg)
c.*7103T>G (n.*7103T>G)
n.5795T>G
c.7472T>G (p.Met2491Arg)
c.7388T>G (p.Met2463Arg)
c.7358T>G (p.Met2453Arg)
c.7310T>G (p.Met2437Arg)
c.7271T>G (p.Met2424Arg)
c.7196T>G (p.Met2399Arg)
n.9067T>G
c.7385T>G (p.Met2462Arg)
c.7355T>G (p.Met2452Arg)
c.7307T>G (p.Met2436Arg)
c.7274T>G (p.Met2425Arg)
c.7244T>G (p.Met2415Arg)
c.7241T>G (p.Met2414Arg)
c.7193T>G (p.Met2398Arg)
c.7157T>G (p.Met2386Arg)
c.7154T>G (p.Met2385Arg)
c.7109T>G (p.Met2370Arg)
n.7774T>G
Xg.77508355A>GCA413703354ATRXc.7475T>C (p.Met2492Thr)
c.2573T>C (p.Met858Thr)
c.7361T>C (p.Met2454Thr)
c.*7103T>C (n.*7103T>C)
n.5795T>C
c.7472T>C (p.Met2491Thr)
c.7388T>C (p.Met2463Thr)
c.7358T>C (p.Met2453Thr)
c.7310T>C (p.Met2437Thr)
c.7271T>C (p.Met2424Thr)
c.7196T>C (p.Met2399Thr)
n.9067T>C
c.7385T>C (p.Met2462Thr)
c.7355T>C (p.Met2452Thr)
c.7307T>C (p.Met2436Thr)
c.7274T>C (p.Met2425Thr)
c.7244T>C (p.Met2415Thr)
c.7241T>C (p.Met2414Thr)
c.7193T>C (p.Met2398Thr)
c.7157T>C (p.Met2386Thr)
c.7154T>C (p.Met2385Thr)
c.7109T>C (p.Met2370Thr)
n.7774T>C
Xg.77508355A>TCA413703358ATRXc.7475T>A (p.Met2492Lys)
c.2573T>A (p.Met858Lys)
c.7361T>A (p.Met2454Lys)
c.*7103T>A (n.*7103T>A)
n.5795T>A
c.7472T>A (p.Met2491Lys)
c.7388T>A (p.Met2463Lys)
c.7358T>A (p.Met2453Lys)
c.7310T>A (p.Met2437Lys)
c.7271T>A (p.Met2424Lys)
c.7196T>A (p.Met2399Lys)
n.9067T>A
c.7385T>A (p.Met2462Lys)
c.7355T>A (p.Met2452Lys)
c.7307T>A (p.Met2436Lys)
c.7274T>A (p.Met2425Lys)
c.7244T>A (p.Met2415Lys)
c.7241T>A (p.Met2414Lys)
c.7193T>A (p.Met2398Lys)
c.7157T>A (p.Met2386Lys)
c.7154T>A (p.Met2385Lys)
c.7109T>A (p.Met2370Lys)
n.7774T>A
Xg.77508356T>ACA413703359ATRXc.7474A>T (p.Met2492Leu)
c.2572A>T (p.Met858Leu)
c.7360A>T (p.Met2454Leu)
c.*7102A>T (n.*7102A>T)
n.5794A>T
c.7471A>T (p.Met2491Leu)
c.7387A>T (p.Met2463Leu)
c.7357A>T (p.Met2453Leu)
c.7309A>T (p.Met2437Leu)
c.7270A>T (p.Met2424Leu)
c.7195A>T (p.Met2399Leu)
n.9066A>T
c.7384A>T (p.Met2462Leu)
c.7354A>T (p.Met2452Leu)
c.7306A>T (p.Met2436Leu)
c.7273A>T (p.Met2425Leu)
c.7243A>T (p.Met2415Leu)
c.7240A>T (p.Met2414Leu)
c.7192A>T (p.Met2398Leu)
c.7156A>T (p.Met2386Leu)
c.7153A>T (p.Met2385Leu)
c.7108A>T (p.Met2370Leu)
n.7773A>T
Xg.77508356T>CCA10457372ATRXc.7474A>G (p.Met2492Val)
c.2572A>G (p.Met858Val)
c.7360A>G (p.Met2454Val)
c.*7102A>G (n.*7102A>G)
n.5794A>G
c.7471A>G (p.Met2491Val)
c.7387A>G (p.Met2463Val)
c.7357A>G (p.Met2453Val)
c.7309A>G (p.Met2437Val)
c.7270A>G (p.Met2424Val)
c.7195A>G (p.Met2399Val)
n.9066A>G
c.7384A>G (p.Met2462Val)
c.7354A>G (p.Met2452Val)
c.7306A>G (p.Met2436Val)
c.7273A>G (p.Met2425Val)
c.7243A>G (p.Met2415Val)
c.7240A>G (p.Met2414Val)
c.7192A>G (p.Met2398Val)
c.7156A>G (p.Met2386Val)
c.7153A>G (p.Met2385Val)
c.7108A>G (p.Met2370Val)
n.7773A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.77508356T>GCA413703361ATRXc.7474A>C (p.Met2492Leu)
c.2572A>C (p.Met858Leu)
c.7360A>C (p.Met2454Leu)
c.*7102A>C (n.*7102A>C)
n.5794A>C
c.7471A>C (p.Met2491Leu)
c.7387A>C (p.Met2463Leu)
c.7357A>C (p.Met2453Leu)
c.7309A>C (p.Met2437Leu)
c.7270A>C (p.Met2424Leu)
c.7195A>C (p.Met2399Leu)
n.9066A>C
c.7384A>C (p.Met2462Leu)
c.7354A>C (p.Met2452Leu)
c.7306A>C (p.Met2436Leu)
c.7273A>C (p.Met2425Leu)
c.7243A>C (p.Met2415Leu)
c.7240A>C (p.Met2414Leu)
c.7192A>C (p.Met2398Leu)
c.7156A>C (p.Met2386Leu)
c.7153A>C (p.Met2385Leu)
c.7108A>C (p.Met2370Leu)
n.7773A>C
Xg.77508356T=CA2438929015ATRXc.7474A= (p.Met2492=)
c.2572A= (p.Met858=)
c.7360A= (p.Met2454=)
c.*7102A= (n.*7102A=)
n.5794A=
c.7471A= (p.Met2491=)
c.7387A= (p.Met2463=)
c.7357A= (p.Met2453=)
c.7309A= (p.Met2437=)
c.7270A= (p.Met2424=)
c.7195A= (p.Met2399=)
n.9066A=
c.7384A= (p.Met2462=)
c.7354A= (p.Met2452=)
c.7306A= (p.Met2436=)
c.7273A= (p.Met2425=)
c.7243A= (p.Met2415=)
c.7240A= (p.Met2414=)
c.7192A= (p.Met2398=)
c.7156A= (p.Met2386=)
c.7153A= (p.Met2385=)
c.7108A= (p.Met2370=)
n.7773A=
Xg.77508357T>ACA517373949ATRXc.7473A>T (p.Ser2491=)
c.2571A>T (p.Ser857=)
c.7359A>T (p.Ser2453=)
c.*7101A>T (n.*7101A>T)
n.5793A>T
c.7470A>T (p.Ser2490=)
c.7386A>T (p.Ser2462=)
c.7356A>T (p.Ser2452=)
c.7308A>T (p.Ser2436=)
c.7269A>T (p.Ser2423=)
c.7194A>T (p.Ser2398=)
n.9065A>T
c.7383A>T (p.Ser2461=)
c.7353A>T (p.Ser2451=)
c.7305A>T (p.Ser2435=)
c.7272A>T (p.Ser2424=)
c.7242A>T (p.Ser2414=)
c.7239A>T (p.Ser2413=)
c.7191A>T (p.Ser2397=)
c.7155A>T (p.Ser2385=)
c.7152A>T (p.Ser2384=)
c.7107A>T (p.Ser2369=)
n.7772A>T
Xg.77508357T>CCA517373951ATRXc.7473A>G (p.Ser2491=)
c.2571A>G (p.Ser857=)
c.7359A>G (p.Ser2453=)
c.*7101A>G (n.*7101A>G)
n.5793A>G
c.7470A>G (p.Ser2490=)
c.7386A>G (p.Ser2462=)
c.7356A>G (p.Ser2452=)
c.7308A>G (p.Ser2436=)
c.7269A>G (p.Ser2423=)
c.7194A>G (p.Ser2398=)
n.9065A>G
c.7383A>G (p.Ser2461=)
c.7353A>G (p.Ser2451=)
c.7305A>G (p.Ser2435=)
c.7272A>G (p.Ser2424=)
c.7242A>G (p.Ser2414=)
c.7239A>G (p.Ser2413=)
c.7191A>G (p.Ser2397=)
c.7155A>G (p.Ser2385=)
c.7152A>G (p.Ser2384=)
c.7107A>G (p.Ser2369=)
n.7772A>G
Xg.77508357T>GCA517373950ATRXc.7473A>C (p.Ser2491=)
c.2571A>C (p.Ser857=)
c.7359A>C (p.Ser2453=)
c.*7101A>C (n.*7101A>C)
n.5793A>C
c.7470A>C (p.Ser2490=)
c.7386A>C (p.Ser2462=)
c.7356A>C (p.Ser2452=)
c.7308A>C (p.Ser2436=)
c.7269A>C (p.Ser2423=)
c.7194A>C (p.Ser2398=)
n.9065A>C
c.7383A>C (p.Ser2461=)
c.7353A>C (p.Ser2451=)
c.7305A>C (p.Ser2435=)
c.7272A>C (p.Ser2424=)
c.7242A>C (p.Ser2414=)
c.7239A>C (p.Ser2413=)
c.7191A>C (p.Ser2397=)
c.7155A>C (p.Ser2385=)
c.7152A>C (p.Ser2384=)
c.7107A>C (p.Ser2369=)
n.7772A>C
Xg.77508358delCA2573159516ATRXc.7472del (p.Ser2491Ter)
c.2570del (p.Ser857Ter)
c.7358del (p.Ser2453Ter)
c.*7100del (n.*7100del)
n.5792del
c.7469del (p.Ser2490Ter)
c.7385del (p.Ser2462Ter)
c.7355del (p.Ser2452Ter)
c.7307del (p.Ser2436Ter)
c.7268del (p.Ser2423Ter)
c.7193del (p.Ser2398Ter)
n.9064del
c.7382del (p.Ser2461Ter)
c.7352del (p.Ser2451Ter)
c.7304del (p.Ser2435Ter)
c.7271del (p.Ser2424Ter)
c.7241del (p.Ser2414Ter)
c.7238del (p.Ser2413Ter)
c.7190del (p.Ser2397Ter)
c.7154del (p.Ser2385Ter)
c.7151del (p.Ser2384Ter)
c.7106del (p.Ser2369Ter)
n.7771del
 ClinVar dbSNP
Xg.77508358G>ACA413703370ATRXc.7472C>T (p.Ser2491Leu)
c.2570C>T (p.Ser857Leu)
c.7358C>T (p.Ser2453Leu)
c.*7100C>T (n.*7100C>T)
n.5792C>T
c.7469C>T (p.Ser2490Leu)
c.7385C>T (p.Ser2462Leu)
c.7355C>T (p.Ser2452Leu)
c.7307C>T (p.Ser2436Leu)
c.7268C>T (p.Ser2423Leu)
c.7193C>T (p.Ser2398Leu)
n.9064C>T
c.7382C>T (p.Ser2461Leu)
c.7352C>T (p.Ser2451Leu)
c.7304C>T (p.Ser2435Leu)
c.7271C>T (p.Ser2424Leu)
c.7241C>T (p.Ser2414Leu)
c.7238C>T (p.Ser2413Leu)
c.7190C>T (p.Ser2397Leu)
c.7154C>T (p.Ser2385Leu)
c.7151C>T (p.Ser2384Leu)
c.7106C>T (p.Ser2369Leu)
n.7771C>T
Xg.77508358G>CCA413703374ATRXc.7472C>G (p.Ser2491Ter)
c.2570C>G (p.Ser857Ter)
c.7358C>G (p.Ser2453Ter)
c.*7100C>G (n.*7100C>G)
n.5792C>G
c.7469C>G (p.Ser2490Ter)
c.7385C>G (p.Ser2462Ter)
c.7355C>G (p.Ser2452Ter)
c.7307C>G (p.Ser2436Ter)
c.7268C>G (p.Ser2423Ter)
c.7193C>G (p.Ser2398Ter)
n.9064C>G
c.7382C>G (p.Ser2461Ter)
c.7352C>G (p.Ser2451Ter)
c.7304C>G (p.Ser2435Ter)
c.7271C>G (p.Ser2424Ter)
c.7241C>G (p.Ser2414Ter)
c.7238C>G (p.Ser2413Ter)
c.7190C>G (p.Ser2397Ter)
c.7154C>G (p.Ser2385Ter)
c.7151C>G (p.Ser2384Ter)
c.7106C>G (p.Ser2369Ter)
n.7771C>G
 dbSNP
Xg.77508358G=CA2438929016ATRXc.7472C= (p.Ser2491=)
c.2570C= (p.Ser857=)
c.7358C= (p.Ser2453=)
c.*7100C= (n.*7100C=)
n.5792C=
c.7469C= (p.Ser2490=)
c.7385C= (p.Ser2462=)
c.7355C= (p.Ser2452=)
c.7307C= (p.Ser2436=)
c.7268C= (p.Ser2423=)
c.7193C= (p.Ser2398=)
n.9064C=
c.7382C= (p.Ser2461=)
c.7352C= (p.Ser2451=)
c.7304C= (p.Ser2435=)
c.7271C= (p.Ser2424=)
c.7241C= (p.Ser2414=)
c.7238C= (p.Ser2413=)
c.7190C= (p.Ser2397=)
c.7154C= (p.Ser2385=)
c.7151C= (p.Ser2384=)
c.7106C= (p.Ser2369=)
n.7771C=
Xg.77508358G>TCA413703366ATRXc.7472C>A (p.Ser2491Ter)
c.2570C>A (p.Ser857Ter)
c.7358C>A (p.Ser2453Ter)
c.*7100C>A (n.*7100C>A)
n.5792C>A
c.7469C>A (p.Ser2490Ter)
c.7385C>A (p.Ser2462Ter)
c.7355C>A (p.Ser2452Ter)
c.7307C>A (p.Ser2436Ter)
c.7268C>A (p.Ser2423Ter)
c.7193C>A (p.Ser2398Ter)
n.9064C>A
c.7382C>A (p.Ser2461Ter)
c.7352C>A (p.Ser2451Ter)
c.7304C>A (p.Ser2435Ter)
c.7271C>A (p.Ser2424Ter)
c.7241C>A (p.Ser2414Ter)
c.7238C>A (p.Ser2413Ter)
c.7190C>A (p.Ser2397Ter)
c.7154C>A (p.Ser2385Ter)
c.7151C>A (p.Ser2384Ter)
c.7106C>A (p.Ser2369Ter)
n.7771C>A
Xg.77508359A>CCA413703376ATRXc.7471T>G (p.Ser2491Ala)
c.2569T>G (p.Ser857Ala)
c.7357T>G (p.Ser2453Ala)
c.*7099T>G (n.*7099T>G)
n.5791T>G
c.7468T>G (p.Ser2490Ala)
c.7384T>G (p.Ser2462Ala)
c.7354T>G (p.Ser2452Ala)
c.7306T>G (p.Ser2436Ala)
c.7267T>G (p.Ser2423Ala)
c.7192T>G (p.Ser2398Ala)
n.9063T>G
c.7381T>G (p.Ser2461Ala)
c.7351T>G (p.Ser2451Ala)
c.7303T>G (p.Ser2435Ala)
c.7270T>G (p.Ser2424Ala)
c.7240T>G (p.Ser2414Ala)
c.7237T>G (p.Ser2413Ala)
c.7189T>G (p.Ser2397Ala)
c.7153T>G (p.Ser2385Ala)
c.7150T>G (p.Ser2384Ala)
c.7105T>G (p.Ser2369Ala)
n.7770T>G
Xg.77508359A>GCA413703377ATRXc.7471T>C (p.Ser2491Pro)
c.2569T>C (p.Ser857Pro)
c.7357T>C (p.Ser2453Pro)
c.*7099T>C (n.*7099T>C)
n.5791T>C
c.7468T>C (p.Ser2490Pro)
c.7384T>C (p.Ser2462Pro)
c.7354T>C (p.Ser2452Pro)
c.7306T>C (p.Ser2436Pro)
c.7267T>C (p.Ser2423Pro)
c.7192T>C (p.Ser2398Pro)
n.9063T>C
c.7381T>C (p.Ser2461Pro)
c.7351T>C (p.Ser2451Pro)
c.7303T>C (p.Ser2435Pro)
c.7270T>C (p.Ser2424Pro)
c.7240T>C (p.Ser2414Pro)
c.7237T>C (p.Ser2413Pro)
c.7189T>C (p.Ser2397Pro)
c.7153T>C (p.Ser2385Pro)
c.7150T>C (p.Ser2384Pro)
c.7105T>C (p.Ser2369Pro)
n.7770T>C
Xg.77508359A>TCA413703378ATRXc.7471T>A (p.Ser2491Thr)
c.2569T>A (p.Ser857Thr)
c.7357T>A (p.Ser2453Thr)
c.*7099T>A (n.*7099T>A)
n.5791T>A
c.7468T>A (p.Ser2490Thr)
c.7384T>A (p.Ser2462Thr)
c.7354T>A (p.Ser2452Thr)
c.7306T>A (p.Ser2436Thr)
c.7267T>A (p.Ser2423Thr)
c.7192T>A (p.Ser2398Thr)
n.9063T>A
c.7381T>A (p.Ser2461Thr)
c.7351T>A (p.Ser2451Thr)
c.7303T>A (p.Ser2435Thr)
c.7270T>A (p.Ser2424Thr)
c.7240T>A (p.Ser2414Thr)
c.7237T>A (p.Ser2413Thr)
c.7189T>A (p.Ser2397Thr)
c.7153T>A (p.Ser2385Thr)
c.7150T>A (p.Ser2384Thr)
c.7105T>A (p.Ser2369Thr)
n.7770T>A
Xg.77508360T>ACA413703381ATRXc.7470A>T (p.Lys2490Asn)
c.2568A>T (p.Lys856Asn)
c.7356A>T (p.Lys2452Asn)
c.*7098A>T (n.*7098A>T)
n.5790A>T
c.7467A>T (p.Lys2489Asn)
c.7383A>T (p.Lys2461Asn)
c.7353A>T (p.Lys2451Asn)
c.7305A>T (p.Lys2435Asn)
c.7266A>T (p.Lys2422Asn)
c.7191A>T (p.Lys2397Asn)
n.9062A>T
c.7380A>T (p.Lys2460Asn)
c.7350A>T (p.Lys2450Asn)
c.7302A>T (p.Lys2434Asn)
c.7269A>T (p.Lys2423Asn)
c.7239A>T (p.Lys2413Asn)
c.7236A>T (p.Lys2412Asn)
c.7188A>T (p.Lys2396Asn)
c.7152A>T (p.Lys2384Asn)
c.7149A>T (p.Lys2383Asn)
c.7104A>T (p.Lys2368Asn)
n.7769A>T
Xg.77508360T>CCA517373954ATRXc.7470A>G (p.Lys2490=)
c.2568A>G (p.Lys856=)
c.7356A>G (p.Lys2452=)
c.*7098A>G (n.*7098A>G)
n.5790A>G
c.7467A>G (p.Lys2489=)
c.7383A>G (p.Lys2461=)
c.7353A>G (p.Lys2451=)
c.7305A>G (p.Lys2435=)
c.7266A>G (p.Lys2422=)
c.7191A>G (p.Lys2397=)
n.9062A>G
c.7380A>G (p.Lys2460=)
c.7350A>G (p.Lys2450=)
c.7302A>G (p.Lys2434=)
c.7269A>G (p.Lys2423=)
c.7239A>G (p.Lys2413=)
c.7236A>G (p.Lys2412=)
c.7188A>G (p.Lys2396=)
c.7152A>G (p.Lys2384=)
c.7149A>G (p.Lys2383=)
c.7104A>G (p.Lys2368=)
n.7769A>G
Xg.77508360T>GCA413703385ATRXc.7470A>C (p.Lys2490Asn)
c.2568A>C (p.Lys856Asn)
c.7356A>C (p.Lys2452Asn)
c.*7098A>C (n.*7098A>C)
n.5790A>C
c.7467A>C (p.Lys2489Asn)
c.7383A>C (p.Lys2461Asn)
c.7353A>C (p.Lys2451Asn)
c.7305A>C (p.Lys2435Asn)
c.7266A>C (p.Lys2422Asn)
c.7191A>C (p.Lys2397Asn)
n.9062A>C
c.7380A>C (p.Lys2460Asn)
c.7350A>C (p.Lys2450Asn)
c.7302A>C (p.Lys2434Asn)
c.7269A>C (p.Lys2423Asn)
c.7239A>C (p.Lys2413Asn)
c.7236A>C (p.Lys2412Asn)
c.7188A>C (p.Lys2396Asn)
c.7152A>C (p.Lys2384Asn)
c.7149A>C (p.Lys2383Asn)
c.7104A>C (p.Lys2368Asn)
n.7769A>C
Xg.77508361T>ACA413703388ATRXc.7469A>T (p.Lys2490Ile)
c.2567A>T (p.Lys856Ile)
c.7355A>T (p.Lys2452Ile)
c.*7097A>T (n.*7097A>T)
n.5789A>T
c.7466A>T (p.Lys2489Ile)
c.7382A>T (p.Lys2461Ile)
c.7352A>T (p.Lys2451Ile)
c.7304A>T (p.Lys2435Ile)
c.7265A>T (p.Lys2422Ile)
c.7190A>T (p.Lys2397Ile)
n.9061A>T
c.7379A>T (p.Lys2460Ile)
c.7349A>T (p.Lys2450Ile)
c.7301A>T (p.Lys2434Ile)
c.7268A>T (p.Lys2423Ile)
c.7238A>T (p.Lys2413Ile)
c.7235A>T (p.Lys2412Ile)
c.7187A>T (p.Lys2396Ile)
c.7151A>T (p.Lys2384Ile)
c.7148A>T (p.Lys2383Ile)
c.7103A>T (p.Lys2368Ile)
n.7768A>T
Xg.77508361T>CCA413703391ATRXc.7469A>G (p.Lys2490Arg)
c.2567A>G (p.Lys856Arg)
c.7355A>G (p.Lys2452Arg)
c.*7097A>G (n.*7097A>G)
n.5789A>G
c.7466A>G (p.Lys2489Arg)
c.7382A>G (p.Lys2461Arg)
c.7352A>G (p.Lys2451Arg)
c.7304A>G (p.Lys2435Arg)
c.7265A>G (p.Lys2422Arg)
c.7190A>G (p.Lys2397Arg)
n.9061A>G
c.7379A>G (p.Lys2460Arg)
c.7349A>G (p.Lys2450Arg)
c.7301A>G (p.Lys2434Arg)
c.7268A>G (p.Lys2423Arg)
c.7238A>G (p.Lys2413Arg)
c.7235A>G (p.Lys2412Arg)
c.7187A>G (p.Lys2396Arg)
c.7151A>G (p.Lys2384Arg)
c.7148A>G (p.Lys2383Arg)
c.7103A>G (p.Lys2368Arg)
n.7768A>G
Xg.77508361T>GCA413703393ATRXc.7469A>C (p.Lys2490Thr)
c.2567A>C (p.Lys856Thr)
c.7355A>C (p.Lys2452Thr)
c.*7097A>C (n.*7097A>C)
n.5789A>C
c.7466A>C (p.Lys2489Thr)
c.7382A>C (p.Lys2461Thr)
c.7352A>C (p.Lys2451Thr)
c.7304A>C (p.Lys2435Thr)
c.7265A>C (p.Lys2422Thr)
c.7190A>C (p.Lys2397Thr)
n.9061A>C
c.7379A>C (p.Lys2460Thr)
c.7349A>C (p.Lys2450Thr)
c.7301A>C (p.Lys2434Thr)
c.7268A>C (p.Lys2423Thr)
c.7238A>C (p.Lys2413Thr)
c.7235A>C (p.Lys2412Thr)
c.7187A>C (p.Lys2396Thr)
c.7151A>C (p.Lys2384Thr)
c.7148A>C (p.Lys2383Thr)
c.7103A>C (p.Lys2368Thr)
n.7768A>C
Xg.77508362T>ACA413703397ATRXc.7468A>T (p.Lys2490Ter)
c.2566A>T (p.Lys856Ter)
c.7354A>T (p.Lys2452Ter)
c.*7096A>T (n.*7096A>T)
n.5788A>T
c.7465A>T (p.Lys2489Ter)
c.7381A>T (p.Lys2461Ter)
c.7351A>T (p.Lys2451Ter)
c.7303A>T (p.Lys2435Ter)
c.7264A>T (p.Lys2422Ter)
c.7189A>T (p.Lys2397Ter)
n.9060A>T
c.7378A>T (p.Lys2460Ter)
c.7348A>T (p.Lys2450Ter)
c.7300A>T (p.Lys2434Ter)
c.7267A>T (p.Lys2423Ter)
c.7237A>T (p.Lys2413Ter)
c.7234A>T (p.Lys2412Ter)
c.7186A>T (p.Lys2396Ter)
c.7150A>T (p.Lys2384Ter)
c.7147A>T (p.Lys2383Ter)
c.7102A>T (p.Lys2368Ter)
n.7767A>T
 ClinVar
Xg.77508362T>CCA413703399ATRXc.7468A>G (p.Lys2490Glu)
c.2566A>G (p.Lys856Glu)
c.7354A>G (p.Lys2452Glu)
c.*7096A>G (n.*7096A>G)
n.5788A>G
c.7465A>G (p.Lys2489Glu)
c.7381A>G (p.Lys2461Glu)
c.7351A>G (p.Lys2451Glu)
c.7303A>G (p.Lys2435Glu)
c.7264A>G (p.Lys2422Glu)
c.7189A>G (p.Lys2397Glu)
n.9060A>G
c.7378A>G (p.Lys2460Glu)
c.7348A>G (p.Lys2450Glu)
c.7300A>G (p.Lys2434Glu)
c.7267A>G (p.Lys2423Glu)
c.7237A>G (p.Lys2413Glu)
c.7234A>G (p.Lys2412Glu)
c.7186A>G (p.Lys2396Glu)
c.7150A>G (p.Lys2384Glu)
c.7147A>G (p.Lys2383Glu)
c.7102A>G (p.Lys2368Glu)
n.7767A>G
Xg.77508362T>GCA413703403ATRXc.7468A>C (p.Lys2490Gln)
c.2566A>C (p.Lys856Gln)
c.7354A>C (p.Lys2452Gln)
c.*7096A>C (n.*7096A>C)
n.5788A>C
c.7465A>C (p.Lys2489Gln)
c.7381A>C (p.Lys2461Gln)
c.7351A>C (p.Lys2451Gln)
c.7303A>C (p.Lys2435Gln)
c.7264A>C (p.Lys2422Gln)
c.7189A>C (p.Lys2397Gln)
n.9060A>C
c.7378A>C (p.Lys2460Gln)
c.7348A>C (p.Lys2450Gln)
c.7300A>C (p.Lys2434Gln)
c.7267A>C (p.Lys2423Gln)
c.7237A>C (p.Lys2413Gln)
c.7234A>C (p.Lys2412Gln)
c.7186A>C (p.Lys2396Gln)
c.7150A>C (p.Lys2384Gln)
c.7147A>C (p.Lys2383Gln)
c.7102A>C (p.Lys2368Gln)
n.7767A>C
Xg.77508363C>ACA517373956ATRXc.7467G>T (p.Gly2489=)
c.2565G>T (p.Gly855=)
c.7353G>T (p.Gly2451=)
c.*7095G>T (n.*7095G>T)
n.5787G>T
c.7464G>T (p.Gly2488=)
c.7380G>T (p.Gly2460=)
c.7350G>T (p.Gly2450=)
c.7302G>T (p.Gly2434=)
c.7263G>T (p.Gly2421=)
c.7188G>T (p.Gly2396=)
n.9059G>T
c.7377G>T (p.Gly2459=)
c.7347G>T (p.Gly2449=)
c.7299G>T (p.Gly2433=)
c.7266G>T (p.Gly2422=)
c.7236G>T (p.Gly2412=)
c.7233G>T (p.Gly2411=)
c.7185G>T (p.Gly2395=)
c.7149G>T (p.Gly2383=)
c.7146G>T (p.Gly2382=)
c.7101G>T (p.Gly2367=)
n.7766G>T
Xg.77508363C=CA2438929017ATRXc.7467G= (p.Gly2489=)
c.2565G= (p.Gly855=)
c.7353G= (p.Gly2451=)
c.*7095G= (n.*7095G=)
n.5787G=
c.7464G= (p.Gly2488=)
c.7380G= (p.Gly2460=)
c.7350G= (p.Gly2450=)
c.7302G= (p.Gly2434=)
c.7263G= (p.Gly2421=)
c.7188G= (p.Gly2396=)
n.9059G=
c.7377G= (p.Gly2459=)
c.7347G= (p.Gly2449=)
c.7299G= (p.Gly2433=)
c.7266G= (p.Gly2422=)
c.7236G= (p.Gly2412=)
c.7233G= (p.Gly2411=)
c.7185G= (p.Gly2395=)
c.7149G= (p.Gly2383=)
c.7146G= (p.Gly2382=)
c.7101G= (p.Gly2367=)
n.7766G=
Xg.77508363C>GCA517373960ATRXc.7467G>C (p.Gly2489=)
c.2565G>C (p.Gly855=)
c.7353G>C (p.Gly2451=)
c.*7095G>C (n.*7095G>C)
n.5787G>C
c.7464G>C (p.Gly2488=)
c.7380G>C (p.Gly2460=)
c.7350G>C (p.Gly2450=)
c.7302G>C (p.Gly2434=)
c.7263G>C (p.Gly2421=)
c.7188G>C (p.Gly2396=)
n.9059G>C
c.7377G>C (p.Gly2459=)
c.7347G>C (p.Gly2449=)
c.7299G>C (p.Gly2433=)
c.7266G>C (p.Gly2422=)
c.7236G>C (p.Gly2412=)
c.7233G>C (p.Gly2411=)
c.7185G>C (p.Gly2395=)
c.7149G>C (p.Gly2383=)
c.7146G>C (p.Gly2382=)
c.7101G>C (p.Gly2367=)
n.7766G>C
Xg.77508363C>TCA517373958ATRXc.7467G>A (p.Gly2489=)
c.2565G>A (p.Gly855=)
c.7353G>A (p.Gly2451=)
c.*7095G>A (n.*7095G>A)
n.5787G>A
c.7464G>A (p.Gly2488=)
c.7380G>A (p.Gly2460=)
c.7350G>A (p.Gly2450=)
c.7302G>A (p.Gly2434=)
c.7263G>A (p.Gly2421=)
c.7188G>A (p.Gly2396=)
n.9059G>A
c.7377G>A (p.Gly2459=)
c.7347G>A (p.Gly2449=)
c.7299G>A (p.Gly2433=)
c.7266G>A (p.Gly2422=)
c.7236G>A (p.Gly2412=)
c.7233G>A (p.Gly2411=)
c.7185G>A (p.Gly2395=)
c.7149G>A (p.Gly2383=)
c.7146G>A (p.Gly2382=)
c.7101G>A (p.Gly2367=)
n.7766G>A
 dbSNP
Xg.77508364C>ACA413703409ATRXc.7466G>T (p.Gly2489Val)
c.2564G>T (p.Gly855Val)
c.7352G>T (p.Gly2451Val)
c.*7094G>T (n.*7094G>T)
n.5786G>T
c.7463G>T (p.Gly2488Val)
c.7379G>T (p.Gly2460Val)
c.7349G>T (p.Gly2450Val)
c.7301G>T (p.Gly2434Val)
c.7262G>T (p.Gly2421Val)
c.7187G>T (p.Gly2396Val)
n.9058G>T
c.7376G>T (p.Gly2459Val)
c.7346G>T (p.Gly2449Val)
c.7298G>T (p.Gly2433Val)
c.7265G>T (p.Gly2422Val)
c.7235G>T (p.Gly2412Val)
c.7232G>T (p.Gly2411Val)
c.7184G>T (p.Gly2395Val)
c.7148G>T (p.Gly2383Val)
c.7145G>T (p.Gly2382Val)
c.7100G>T (p.Gly2367Val)
n.7765G>T
Xg.77508364C=CA2438929018ATRXc.7466G= (p.Gly2489=)
c.2564G= (p.Gly855=)
c.7352G= (p.Gly2451=)
c.*7094G= (n.*7094G=)
n.5786G=
c.7463G= (p.Gly2488=)
c.7379G= (p.Gly2460=)
c.7349G= (p.Gly2450=)
c.7301G= (p.Gly2434=)
c.7262G= (p.Gly2421=)
c.7187G= (p.Gly2396=)
n.9058G=
c.7376G= (p.Gly2459=)
c.7346G= (p.Gly2449=)
c.7298G= (p.Gly2433=)
c.7265G= (p.Gly2422=)
c.7235G= (p.Gly2412=)
c.7232G= (p.Gly2411=)
c.7184G= (p.Gly2395=)
c.7148G= (p.Gly2383=)
c.7145G= (p.Gly2382=)
c.7100G= (p.Gly2367=)
n.7765G=
Xg.77508364C>GCA413703412ATRXc.7466G>C (p.Gly2489Ala)
c.2564G>C (p.Gly855Ala)
c.7352G>C (p.Gly2451Ala)
c.*7094G>C (n.*7094G>C)
n.5786G>C
c.7463G>C (p.Gly2488Ala)
c.7379G>C (p.Gly2460Ala)
c.7349G>C (p.Gly2450Ala)
c.7301G>C (p.Gly2434Ala)
c.7262G>C (p.Gly2421Ala)
c.7187G>C (p.Gly2396Ala)
n.9058G>C
c.7376G>C (p.Gly2459Ala)
c.7346G>C (p.Gly2449Ala)
c.7298G>C (p.Gly2433Ala)
c.7265G>C (p.Gly2422Ala)
c.7235G>C (p.Gly2412Ala)
c.7232G>C (p.Gly2411Ala)
c.7184G>C (p.Gly2395Ala)
c.7148G>C (p.Gly2383Ala)
c.7145G>C (p.Gly2382Ala)
c.7100G>C (p.Gly2367Ala)
n.7765G>C
Xg.77508364C>TCA10457373ATRXc.7466G>A (p.Gly2489Glu)
c.2564G>A (p.Gly855Glu)
c.7352G>A (p.Gly2451Glu)
c.*7094G>A (n.*7094G>A)
n.5786G>A
c.7463G>A (p.Gly2488Glu)
c.7379G>A (p.Gly2460Glu)
c.7349G>A (p.Gly2450Glu)
c.7301G>A (p.Gly2434Glu)
c.7262G>A (p.Gly2421Glu)
c.7187G>A (p.Gly2396Glu)
n.9058G>A
c.7376G>A (p.Gly2459Glu)
c.7346G>A (p.Gly2449Glu)
c.7298G>A (p.Gly2433Glu)
c.7265G>A (p.Gly2422Glu)
c.7235G>A (p.Gly2412Glu)
c.7232G>A (p.Gly2411Glu)
c.7184G>A (p.Gly2395Glu)
c.7148G>A (p.Gly2383Glu)
c.7145G>A (p.Gly2382Glu)
c.7100G>A (p.Gly2367Glu)
n.7765G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.77508364_77508365insTCTCA2522507208ATRXc.7465_7466insAGA (p.Gly2489delinsGluArg)
c.2563_2564insAGA (p.Gly855delinsGluArg)
c.7351_7352insAGA (p.Gly2451delinsGluArg)
c.*7093_*7094insAGA (n.*7093_*7094insAGA)
n.5785_5786insAGA
c.7462_7463insAGA (p.Gly2488delinsGluArg)
c.7378_7379insAGA (p.Gly2460delinsGluArg)
c.7348_7349insAGA (p.Gly2450delinsGluArg)
c.7300_7301insAGA (p.Gly2434delinsGluArg)
c.7261_7262insAGA (p.Gly2421delinsGluArg)
c.7186_7187insAGA (p.Gly2396delinsGluArg)
n.9057_9058insAGA
c.7375_7376insAGA (p.Gly2459delinsGluArg)
c.7345_7346insAGA (p.Gly2449delinsGluArg)
c.7297_7298insAGA (p.Gly2433delinsGluArg)
c.7264_7265insAGA (p.Gly2422delinsGluArg)
c.7234_7235insAGA (p.Gly2412delinsGluArg)
c.7231_7232insAGA (p.Gly2411delinsGluArg)
c.7183_7184insAGA (p.Gly2395delinsGluArg)
c.7147_7148insAGA (p.Gly2383delinsGluArg)
c.7144_7145insAGA (p.Gly2382delinsGluArg)
c.7099_7100insAGA (p.Gly2367delinsGluArg)
n.7764_7765insAGA
Xg.77508365C>ACA413703416ATRXc.7465G>T (p.Gly2489Trp)
c.2563G>T (p.Gly855Trp)
c.7351G>T (p.Gly2451Trp)
c.*7093G>T (n.*7093G>T)
n.5785G>T
c.7462G>T (p.Gly2488Trp)
c.7378G>T (p.Gly2460Trp)
c.7348G>T (p.Gly2450Trp)
c.7300G>T (p.Gly2434Trp)
c.7261G>T (p.Gly2421Trp)
c.7186G>T (p.Gly2396Trp)
n.9057G>T
c.7375G>T (p.Gly2459Trp)
c.7345G>T (p.Gly2449Trp)
c.7297G>T (p.Gly2433Trp)
c.7264G>T (p.Gly2422Trp)
c.7234G>T (p.Gly2412Trp)
c.7231G>T (p.Gly2411Trp)
c.7183G>T (p.Gly2395Trp)
c.7147G>T (p.Gly2383Trp)
c.7144G>T (p.Gly2382Trp)
c.7099G>T (p.Gly2367Trp)
n.7764G>T
Xg.77508365C>GCA413703426ATRXc.7465G>C (p.Gly2489Arg)
c.2563G>C (p.Gly855Arg)
c.7351G>C (p.Gly2451Arg)
c.*7093G>C (n.*7093G>C)
n.5785G>C
c.7462G>C (p.Gly2488Arg)
c.7378G>C (p.Gly2460Arg)
c.7348G>C (p.Gly2450Arg)
c.7300G>C (p.Gly2434Arg)
c.7261G>C (p.Gly2421Arg)
c.7186G>C (p.Gly2396Arg)
n.9057G>C
c.7375G>C (p.Gly2459Arg)
c.7345G>C (p.Gly2449Arg)
c.7297G>C (p.Gly2433Arg)
c.7264G>C (p.Gly2422Arg)
c.7234G>C (p.Gly2412Arg)
c.7231G>C (p.Gly2411Arg)
c.7183G>C (p.Gly2395Arg)
c.7147G>C (p.Gly2383Arg)
c.7144G>C (p.Gly2382Arg)
c.7099G>C (p.Gly2367Arg)
n.7764G>C
Xg.77508365C>TCA413703428ATRXc.7465G>A (p.Gly2489Arg)
c.2563G>A (p.Gly855Arg)
c.7351G>A (p.Gly2451Arg)
c.*7093G>A (n.*7093G>A)
n.5785G>A
c.7462G>A (p.Gly2488Arg)
c.7378G>A (p.Gly2460Arg)
c.7348G>A (p.Gly2450Arg)
c.7300G>A (p.Gly2434Arg)
c.7261G>A (p.Gly2421Arg)
c.7186G>A (p.Gly2396Arg)
n.9057G>A
c.7375G>A (p.Gly2459Arg)
c.7345G>A (p.Gly2449Arg)
c.7297G>A (p.Gly2433Arg)
c.7264G>A (p.Gly2422Arg)
c.7234G>A (p.Gly2412Arg)
c.7231G>A (p.Gly2411Arg)
c.7183G>A (p.Gly2395Arg)
c.7147G>A (p.Gly2383Arg)
c.7144G>A (p.Gly2382Arg)
c.7099G>A (p.Gly2367Arg)
n.7764G>A
Xg.77508366T>ACA413703431ATRXc.7464A>T (p.Gln2488His)
c.2562A>T (p.Gln854His)
c.7350A>T (p.Gln2450His)
c.*7092A>T (n.*7092A>T)
n.5784A>T
c.7461A>T (p.Gln2487His)
c.7377A>T (p.Gln2459His)
c.7347A>T (p.Gln2449His)
c.7299A>T (p.Gln2433His)
c.7260A>T (p.Gln2420His)
c.7185A>T (p.Gln2395His)
n.9056A>T
c.7374A>T (p.Gln2458His)
c.7344A>T (p.Gln2448His)
c.7296A>T (p.Gln2432His)
c.7263A>T (p.Gln2421His)
c.7233A>T (p.Gln2411His)
c.7230A>T (p.Gln2410His)
c.7182A>T (p.Gln2394His)
c.7146A>T (p.Gln2382His)
c.7143A>T (p.Gln2381His)
c.7098A>T (p.Gln2366His)
n.7763A>T
 COSMIC COSMIC
Xg.77508366T>CCA517373962ATRXc.7464A>G (p.Gln2488=)
c.2562A>G (p.Gln854=)
c.7350A>G (p.Gln2450=)
c.*7092A>G (n.*7092A>G)
n.5784A>G
c.7461A>G (p.Gln2487=)
c.7377A>G (p.Gln2459=)
c.7347A>G (p.Gln2449=)
c.7299A>G (p.Gln2433=)
c.7260A>G (p.Gln2420=)
c.7185A>G (p.Gln2395=)
n.9056A>G
c.7374A>G (p.Gln2458=)
c.7344A>G (p.Gln2448=)
c.7296A>G (p.Gln2432=)
c.7263A>G (p.Gln2421=)
c.7233A>G (p.Gln2411=)
c.7230A>G (p.Gln2410=)
c.7182A>G (p.Gln2394=)
c.7146A>G (p.Gln2382=)
c.7143A>G (p.Gln2381=)
c.7098A>G (p.Gln2366=)
n.7763A>G
Xg.77508366T>GCA413703434ATRXc.7464A>C (p.Gln2488His)
c.2562A>C (p.Gln854His)
c.7350A>C (p.Gln2450His)
c.*7092A>C (n.*7092A>C)
n.5784A>C
c.7461A>C (p.Gln2487His)
c.7377A>C (p.Gln2459His)
c.7347A>C (p.Gln2449His)
c.7299A>C (p.Gln2433His)
c.7260A>C (p.Gln2420His)
c.7185A>C (p.Gln2395His)
n.9056A>C
c.7374A>C (p.Gln2458His)
c.7344A>C (p.Gln2448His)
c.7296A>C (p.Gln2432His)
c.7263A>C (p.Gln2421His)
c.7233A>C (p.Gln2411His)
c.7230A>C (p.Gln2410His)
c.7182A>C (p.Gln2394His)
c.7146A>C (p.Gln2382His)
c.7143A>C (p.Gln2381His)
c.7098A>C (p.Gln2366His)
n.7763A>C
Xg.77508367T>ACA413703444ATRXc.7463A>T (p.Gln2488Leu)
c.2561A>T (p.Gln854Leu)
c.7349A>T (p.Gln2450Leu)
c.*7091A>T (n.*7091A>T)
n.5783A>T
c.7460A>T (p.Gln2487Leu)
c.7376A>T (p.Gln2459Leu)
c.7346A>T (p.Gln2449Leu)
c.7298A>T (p.Gln2433Leu)
c.7259A>T (p.Gln2420Leu)
c.7184A>T (p.Gln2395Leu)
n.9055A>T
c.7373A>T (p.Gln2458Leu)
c.7343A>T (p.Gln2448Leu)
c.7295A>T (p.Gln2432Leu)
c.7262A>T (p.Gln2421Leu)
c.7232A>T (p.Gln2411Leu)
c.7229A>T (p.Gln2410Leu)
c.7181A>T (p.Gln2394Leu)
c.7145A>T (p.Gln2382Leu)
c.7142A>T (p.Gln2381Leu)
c.7097A>T (p.Gln2366Leu)
n.7762A>T
Xg.77508367T>CCA413703439ATRXc.7463A>G (p.Gln2488Arg)
c.2561A>G (p.Gln854Arg)
c.7349A>G (p.Gln2450Arg)
c.*7091A>G (n.*7091A>G)
n.5783A>G
c.7460A>G (p.Gln2487Arg)
c.7376A>G (p.Gln2459Arg)
c.7346A>G (p.Gln2449Arg)
c.7298A>G (p.Gln2433Arg)
c.7259A>G (p.Gln2420Arg)
c.7184A>G (p.Gln2395Arg)
n.9055A>G
c.7373A>G (p.Gln2458Arg)
c.7343A>G (p.Gln2448Arg)
c.7295A>G (p.Gln2432Arg)
c.7262A>G (p.Gln2421Arg)
c.7232A>G (p.Gln2411Arg)
c.7229A>G (p.Gln2410Arg)
c.7181A>G (p.Gln2394Arg)
c.7145A>G (p.Gln2382Arg)
c.7142A>G (p.Gln2381Arg)
c.7097A>G (p.Gln2366Arg)
n.7762A>G
Xg.77508367T>GCA413703442ATRXc.7463A>C (p.Gln2488Pro)
c.2561A>C (p.Gln854Pro)
c.7349A>C (p.Gln2450Pro)
c.*7091A>C (n.*7091A>C)
n.5783A>C
c.7460A>C (p.Gln2487Pro)
c.7376A>C (p.Gln2459Pro)
c.7346A>C (p.Gln2449Pro)
c.7298A>C (p.Gln2433Pro)
c.7259A>C (p.Gln2420Pro)
c.7184A>C (p.Gln2395Pro)
n.9055A>C
c.7373A>C (p.Gln2458Pro)
c.7343A>C (p.Gln2448Pro)
c.7295A>C (p.Gln2432Pro)
c.7262A>C (p.Gln2421Pro)
c.7232A>C (p.Gln2411Pro)
c.7229A>C (p.Gln2410Pro)
c.7181A>C (p.Gln2394Pro)
c.7145A>C (p.Gln2382Pro)
c.7142A>C (p.Gln2381Pro)
c.7097A>C (p.Gln2366Pro)
n.7762A>C
Xg.77508368G>ACA413703447ATRXc.7462C>T (p.Gln2488Ter)
c.2560C>T (p.Gln854Ter)
c.7348C>T (p.Gln2450Ter)
c.*7090C>T (n.*7090C>T)
n.5782C>T
c.7459C>T (p.Gln2487Ter)
c.7375C>T (p.Gln2459Ter)
c.7345C>T (p.Gln2449Ter)
c.7297C>T (p.Gln2433Ter)
c.7258C>T (p.Gln2420Ter)
c.7183C>T (p.Gln2395Ter)
n.9054C>T
c.7372C>T (p.Gln2458Ter)
c.7342C>T (p.Gln2448Ter)
c.7294C>T (p.Gln2432Ter)
c.7261C>T (p.Gln2421Ter)
c.7231C>T (p.Gln2411Ter)
c.7228C>T (p.Gln2410Ter)
c.7180C>T (p.Gln2394Ter)
c.7144C>T (p.Gln2382Ter)
c.7141C>T (p.Gln2381Ter)
c.7096C>T (p.Gln2366Ter)
n.7761C>T
Xg.77508368G>CCA413703450ATRXc.7462C>G (p.Gln2488Glu)
c.2560C>G (p.Gln854Glu)
c.7348C>G (p.Gln2450Glu)
c.*7090C>G (n.*7090C>G)
n.5782C>G
c.7459C>G (p.Gln2487Glu)
c.7375C>G (p.Gln2459Glu)
c.7345C>G (p.Gln2449Glu)
c.7297C>G (p.Gln2433Glu)
c.7258C>G (p.Gln2420Glu)
c.7183C>G (p.Gln2395Glu)
n.9054C>G
c.7372C>G (p.Gln2458Glu)
c.7342C>G (p.Gln2448Glu)
c.7294C>G (p.Gln2432Glu)
c.7261C>G (p.Gln2421Glu)
c.7231C>G (p.Gln2411Glu)
c.7228C>G (p.Gln2410Glu)
c.7180C>G (p.Gln2394Glu)
c.7144C>G (p.Gln2382Glu)
c.7141C>G (p.Gln2381Glu)
c.7096C>G (p.Gln2366Glu)
n.7761C>G
Xg.77508368G>TCA413703453ATRXc.7462C>A (p.Gln2488Lys)
c.2560C>A (p.Gln854Lys)
c.7348C>A (p.Gln2450Lys)
c.*7090C>A (n.*7090C>A)
n.5782C>A
c.7459C>A (p.Gln2487Lys)
c.7375C>A (p.Gln2459Lys)
c.7345C>A (p.Gln2449Lys)
c.7297C>A (p.Gln2433Lys)
c.7258C>A (p.Gln2420Lys)
c.7183C>A (p.Gln2395Lys)
n.9054C>A
c.7372C>A (p.Gln2458Lys)
c.7342C>A (p.Gln2448Lys)
c.7294C>A (p.Gln2432Lys)
c.7261C>A (p.Gln2421Lys)
c.7231C>A (p.Gln2411Lys)
c.7228C>A (p.Gln2410Lys)
c.7180C>A (p.Gln2394Lys)
c.7144C>A (p.Gln2382Lys)
c.7141C>A (p.Gln2381Lys)
c.7096C>A (p.Gln2366Lys)
n.7761C>A
Xg.77508369G>ACA517373964ATRXc.7461C>T (p.Ser2487=)
c.2559C>T (p.Ser853=)
c.7347C>T (p.Ser2449=)
c.*7089C>T (n.*7089C>T)
n.5781C>T
c.7458C>T (p.Ser2486=)
c.7374C>T (p.Ser2458=)
c.7344C>T (p.Ser2448=)
c.7296C>T (p.Ser2432=)
c.7257C>T (p.Ser2419=)
c.7182C>T (p.Ser2394=)
n.9053C>T
c.7371C>T (p.Ser2457=)
c.7341C>T (p.Ser2447=)
c.7293C>T (p.Ser2431=)
c.7260C>T (p.Ser2420=)
c.7230C>T (p.Ser2410=)
c.7227C>T (p.Ser2409=)
c.7179C>T (p.Ser2393=)
c.7143C>T (p.Ser2381=)
c.7140C>T (p.Ser2380=)
c.7095C>T (p.Ser2365=)
n.7760C>T
 COSMIC COSMIC
Xg.77508369G>CCA517373965ATRXc.7461C>G (p.Ser2487=)
c.2559C>G (p.Ser853=)
c.7347C>G (p.Ser2449=)
c.*7089C>G (n.*7089C>G)
n.5781C>G
c.7458C>G (p.Ser2486=)
c.7374C>G (p.Ser2458=)
c.7344C>G (p.Ser2448=)
c.7296C>G (p.Ser2432=)
c.7257C>G (p.Ser2419=)
c.7182C>G (p.Ser2394=)
n.9053C>G
c.7371C>G (p.Ser2457=)
c.7341C>G (p.Ser2447=)
c.7293C>G (p.Ser2431=)
c.7260C>G (p.Ser2420=)
c.7230C>G (p.Ser2410=)
c.7227C>G (p.Ser2409=)
c.7179C>G (p.Ser2393=)
c.7143C>G (p.Ser2381=)
c.7140C>G (p.Ser2380=)
c.7095C>G (p.Ser2365=)
n.7760C>G
Xg.77508369G>TCA517373966ATRXc.7461C>A (p.Ser2487=)
c.2559C>A (p.Ser853=)
c.7347C>A (p.Ser2449=)
c.*7089C>A (n.*7089C>A)
n.5781C>A
c.7458C>A (p.Ser2486=)
c.7374C>A (p.Ser2458=)
c.7344C>A (p.Ser2448=)
c.7296C>A (p.Ser2432=)
c.7257C>A (p.Ser2419=)
c.7182C>A (p.Ser2394=)
n.9053C>A
c.7371C>A (p.Ser2457=)
c.7341C>A (p.Ser2447=)
c.7293C>A (p.Ser2431=)
c.7260C>A (p.Ser2420=)
c.7230C>A (p.Ser2410=)
c.7227C>A (p.Ser2409=)
c.7179C>A (p.Ser2393=)
c.7143C>A (p.Ser2381=)
c.7140C>A (p.Ser2380=)
c.7095C>A (p.Ser2365=)
n.7760C>A
 dbSNP
Xg.77508370G>ACA413703454ATRXc.7460C>T (p.Ser2487Phe)
c.2558C>T (p.Ser853Phe)
c.7346C>T (p.Ser2449Phe)
c.*7088C>T (n.*7088C>T)
n.5780C>T
c.7457C>T (p.Ser2486Phe)
c.7373C>T (p.Ser2458Phe)
c.7343C>T (p.Ser2448Phe)
c.7295C>T (p.Ser2432Phe)
c.7256C>T (p.Ser2419Phe)
c.7181C>T (p.Ser2394Phe)
n.9052C>T
c.7370C>T (p.Ser2457Phe)
c.7340C>T (p.Ser2447Phe)
c.7292C>T (p.Ser2431Phe)
c.7259C>T (p.Ser2420Phe)
c.7229C>T (p.Ser2410Phe)
c.7226C>T (p.Ser2409Phe)
c.7178C>T (p.Ser2393Phe)
c.7142C>T (p.Ser2381Phe)
c.7139C>T (p.Ser2380Phe)
c.7094C>T (p.Ser2365Phe)
n.7759C>T
 dbSNP
Xg.77508370G>CCA413703455ATRXc.7460C>G (p.Ser2487Cys)
c.2558C>G (p.Ser853Cys)
c.7346C>G (p.Ser2449Cys)
c.*7088C>G (n.*7088C>G)
n.5780C>G
c.7457C>G (p.Ser2486Cys)
c.7373C>G (p.Ser2458Cys)
c.7343C>G (p.Ser2448Cys)
c.7295C>G (p.Ser2432Cys)
c.7256C>G (p.Ser2419Cys)
c.7181C>G (p.Ser2394Cys)
n.9052C>G
c.7370C>G (p.Ser2457Cys)
c.7340C>G (p.Ser2447Cys)
c.7292C>G (p.Ser2431Cys)
c.7259C>G (p.Ser2420Cys)
c.7229C>G (p.Ser2410Cys)
c.7226C>G (p.Ser2409Cys)
c.7178C>G (p.Ser2393Cys)
c.7142C>G (p.Ser2381Cys)
c.7139C>G (p.Ser2380Cys)
c.7094C>G (p.Ser2365Cys)
n.7759C>G
Xg.77508370G=CA2438929019ATRXc.7460C= (p.Ser2487=)
c.2558C= (p.Ser853=)
c.7346C= (p.Ser2449=)
c.*7088C= (n.*7088C=)
n.5780C=
c.7457C= (p.Ser2486=)
c.7373C= (p.Ser2458=)
c.7343C= (p.Ser2448=)
c.7295C= (p.Ser2432=)
c.7256C= (p.Ser2419=)
c.7181C= (p.Ser2394=)
n.9052C=
c.7370C= (p.Ser2457=)
c.7340C= (p.Ser2447=)
c.7292C= (p.Ser2431=)
c.7259C= (p.Ser2420=)
c.7229C= (p.Ser2410=)
c.7226C= (p.Ser2409=)
c.7178C= (p.Ser2393=)
c.7142C= (p.Ser2381=)
c.7139C= (p.Ser2380=)
c.7094C= (p.Ser2365=)
n.7759C=
Xg.77508370G>TCA413703456ATRXc.7460C>A (p.Ser2487Tyr)
c.2558C>A (p.Ser853Tyr)
c.7346C>A (p.Ser2449Tyr)
c.*7088C>A (n.*7088C>A)
n.5780C>A
c.7457C>A (p.Ser2486Tyr)
c.7373C>A (p.Ser2458Tyr)
c.7343C>A (p.Ser2448Tyr)
c.7295C>A (p.Ser2432Tyr)
c.7256C>A (p.Ser2419Tyr)
c.7181C>A (p.Ser2394Tyr)
n.9052C>A
c.7370C>A (p.Ser2457Tyr)
c.7340C>A (p.Ser2447Tyr)
c.7292C>A (p.Ser2431Tyr)
c.7259C>A (p.Ser2420Tyr)
c.7229C>A (p.Ser2410Tyr)
c.7226C>A (p.Ser2409Tyr)
c.7178C>A (p.Ser2393Tyr)
c.7142C>A (p.Ser2381Tyr)
c.7139C>A (p.Ser2380Tyr)
c.7094C>A (p.Ser2365Tyr)
n.7759C>A
Xg.77508371A=CA2438929020ATRXc.7459T= (p.Ser2487=)
c.2557T= (p.Ser853=)
c.7345T= (p.Ser2449=)
c.*7087T= (n.*7087T=)
n.5779T=
c.7456T= (p.Ser2486=)
c.7372T= (p.Ser2458=)
c.7342T= (p.Ser2448=)
c.7294T= (p.Ser2432=)
c.7255T= (p.Ser2419=)
c.7180T= (p.Ser2394=)
n.9051T=
c.7369T= (p.Ser2457=)
c.7339T= (p.Ser2447=)
c.7291T= (p.Ser2431=)
c.7258T= (p.Ser2420=)
c.7228T= (p.Ser2410=)
c.7225T= (p.Ser2409=)
c.7177T= (p.Ser2393=)
c.7141T= (p.Ser2381=)
c.7138T= (p.Ser2380=)
c.7093T= (p.Ser2365=)
n.7758T=
Xg.77508371A>CCA413703459ATRXc.7459T>G (p.Ser2487Ala)
c.2557T>G (p.Ser853Ala)
c.7345T>G (p.Ser2449Ala)
c.*7087T>G (n.*7087T>G)
n.5779T>G
c.7456T>G (p.Ser2486Ala)
c.7372T>G (p.Ser2458Ala)
c.7342T>G (p.Ser2448Ala)
c.7294T>G (p.Ser2432Ala)
c.7255T>G (p.Ser2419Ala)
c.7180T>G (p.Ser2394Ala)
n.9051T>G
c.7369T>G (p.Ser2457Ala)
c.7339T>G (p.Ser2447Ala)
c.7291T>G (p.Ser2431Ala)
c.7258T>G (p.Ser2420Ala)
c.7228T>G (p.Ser2410Ala)
c.7225T>G (p.Ser2409Ala)
c.7177T>G (p.Ser2393Ala)
c.7141T>G (p.Ser2381Ala)
c.7138T>G (p.Ser2380Ala)
c.7093T>G (p.Ser2365Ala)
n.7758T>G
Xg.77508371A>GCA331560032ATRXc.7459T>C (p.Ser2487Pro)
c.2557T>C (p.Ser853Pro)
c.7345T>C (p.Ser2449Pro)
c.*7087T>C (n.*7087T>C)
n.5779T>C
c.7456T>C (p.Ser2486Pro)
c.7372T>C (p.Ser2458Pro)
c.7342T>C (p.Ser2448Pro)
c.7294T>C (p.Ser2432Pro)
c.7255T>C (p.Ser2419Pro)
c.7180T>C (p.Ser2394Pro)
n.9051T>C
c.7369T>C (p.Ser2457Pro)
c.7339T>C (p.Ser2447Pro)
c.7291T>C (p.Ser2431Pro)
c.7258T>C (p.Ser2420Pro)
c.7228T>C (p.Ser2410Pro)
c.7225T>C (p.Ser2409Pro)
c.7177T>C (p.Ser2393Pro)
c.7141T>C (p.Ser2381Pro)
c.7138T>C (p.Ser2380Pro)
c.7093T>C (p.Ser2365Pro)
n.7758T>C
 dbSNP
Xg.77508371A>TCA413703457ATRXc.7459T>A (p.Ser2487Thr)
c.2557T>A (p.Ser853Thr)
c.7345T>A (p.Ser2449Thr)
c.*7087T>A (n.*7087T>A)
n.5779T>A
c.7456T>A (p.Ser2486Thr)
c.7372T>A (p.Ser2458Thr)
c.7342T>A (p.Ser2448Thr)
c.7294T>A (p.Ser2432Thr)
c.7255T>A (p.Ser2419Thr)
c.7180T>A (p.Ser2394Thr)
n.9051T>A
c.7369T>A (p.Ser2457Thr)
c.7339T>A (p.Ser2447Thr)
c.7291T>A (p.Ser2431Thr)
c.7258T>A (p.Ser2420Thr)
c.7228T>A (p.Ser2410Thr)
c.7225T>A (p.Ser2409Thr)
c.7177T>A (p.Ser2393Thr)
c.7141T>A (p.Ser2381Thr)
c.7138T>A (p.Ser2380Thr)
c.7093T>A (p.Ser2365Thr)
n.7758T>A
Xg.77508372A>CCA517373971ATRXc.7458T>G (p.Pro2486=)
c.2556T>G (p.Pro852=)
c.7344T>G (p.Pro2448=)
c.*7086T>G (n.*7086T>G)
n.5778T>G
c.7455T>G (p.Pro2485=)
c.7371T>G (p.Pro2457=)
c.7341T>G (p.Pro2447=)
c.7293T>G (p.Pro2431=)
c.7254T>G (p.Pro2418=)
c.7179T>G (p.Pro2393=)
n.9050T>G
c.7368T>G (p.Pro2456=)
c.7338T>G (p.Pro2446=)
c.7290T>G (p.Pro2430=)
c.7257T>G (p.Pro2419=)
c.7227T>G (p.Pro2409=)
c.7224T>G (p.Pro2408=)
c.7176T>G (p.Pro2392=)
c.7140T>G (p.Pro2380=)
c.7137T>G (p.Pro2379=)
c.7092T>G (p.Pro2364=)
n.7757T>G
Xg.77508372A>GCA517373969ATRXc.7458T>C (p.Pro2486=)
c.2556T>C (p.Pro852=)
c.7344T>C (p.Pro2448=)
c.*7086T>C (n.*7086T>C)
n.5778T>C
c.7455T>C (p.Pro2485=)
c.7371T>C (p.Pro2457=)
c.7341T>C (p.Pro2447=)
c.7293T>C (p.Pro2431=)
c.7254T>C (p.Pro2418=)
c.7179T>C (p.Pro2393=)
n.9050T>C
c.7368T>C (p.Pro2456=)
c.7338T>C (p.Pro2446=)
c.7290T>C (p.Pro2430=)
c.7257T>C (p.Pro2419=)
c.7227T>C (p.Pro2409=)
c.7224T>C (p.Pro2408=)
c.7176T>C (p.Pro2392=)
c.7140T>C (p.Pro2380=)
c.7137T>C (p.Pro2379=)
c.7092T>C (p.Pro2364=)
n.7757T>C
Xg.77508372A>TCA517373970ATRXc.7458T>A (p.Pro2486=)
c.2556T>A (p.Pro852=)
c.7344T>A (p.Pro2448=)
c.*7086T>A (n.*7086T>A)
n.5778T>A
c.7455T>A (p.Pro2485=)
c.7371T>A (p.Pro2457=)
c.7341T>A (p.Pro2447=)
c.7293T>A (p.Pro2431=)
c.7254T>A (p.Pro2418=)
c.7179T>A (p.Pro2393=)
n.9050T>A
c.7368T>A (p.Pro2456=)
c.7338T>A (p.Pro2446=)
c.7290T>A (p.Pro2430=)
c.7257T>A (p.Pro2419=)
c.7227T>A (p.Pro2409=)
c.7224T>A (p.Pro2408=)
c.7176T>A (p.Pro2392=)
c.7140T>A (p.Pro2380=)
c.7137T>A (p.Pro2379=)
c.7092T>A (p.Pro2364=)
n.7757T>A
Xg.77508373G>ACA413703467ATRXc.7457C>T (p.Pro2486Leu)
c.2555C>T (p.Pro852Leu)
c.7343C>T (p.Pro2448Leu)
c.*7085C>T (n.*7085C>T)
n.5777C>T
c.7454C>T (p.Pro2485Leu)
c.7370C>T (p.Pro2457Leu)
c.7340C>T (p.Pro2447Leu)
c.7292C>T (p.Pro2431Leu)
c.7253C>T (p.Pro2418Leu)
c.7178C>T (p.Pro2393Leu)
n.9049C>T
c.7367C>T (p.Pro2456Leu)
c.7337C>T (p.Pro2446Leu)
c.7289C>T (p.Pro2430Leu)
c.7256C>T (p.Pro2419Leu)
c.7226C>T (p.Pro2409Leu)
c.7223C>T (p.Pro2408Leu)
c.7175C>T (p.Pro2392Leu)
c.7139C>T (p.Pro2380Leu)
c.7136C>T (p.Pro2379Leu)
c.7091C>T (p.Pro2364Leu)
n.7756C>T
Xg.77508373G>CCA413703463ATRXc.7457C>G (p.Pro2486Arg)
c.2555C>G (p.Pro852Arg)
c.7343C>G (p.Pro2448Arg)
c.*7085C>G (n.*7085C>G)
n.5777C>G
c.7454C>G (p.Pro2485Arg)
c.7370C>G (p.Pro2457Arg)
c.7340C>G (p.Pro2447Arg)
c.7292C>G (p.Pro2431Arg)
c.7253C>G (p.Pro2418Arg)
c.7178C>G (p.Pro2393Arg)
n.9049C>G
c.7367C>G (p.Pro2456Arg)
c.7337C>G (p.Pro2446Arg)
c.7289C>G (p.Pro2430Arg)
c.7256C>G (p.Pro2419Arg)
c.7226C>G (p.Pro2409Arg)
c.7223C>G (p.Pro2408Arg)
c.7175C>G (p.Pro2392Arg)
c.7139C>G (p.Pro2380Arg)
c.7136C>G (p.Pro2379Arg)
c.7091C>G (p.Pro2364Arg)
n.7756C>G
Xg.77508373G>TCA413703465ATRXc.7457C>A (p.Pro2486His)
c.2555C>A (p.Pro852His)
c.7343C>A (p.Pro2448His)
c.*7085C>A (n.*7085C>A)
n.5777C>A
c.7454C>A (p.Pro2485His)
c.7370C>A (p.Pro2457His)
c.7340C>A (p.Pro2447His)
c.7292C>A (p.Pro2431His)
c.7253C>A (p.Pro2418His)
c.7178C>A (p.Pro2393His)
n.9049C>A
c.7367C>A (p.Pro2456His)
c.7337C>A (p.Pro2446His)
c.7289C>A (p.Pro2430His)
c.7256C>A (p.Pro2419His)
c.7226C>A (p.Pro2409His)
c.7223C>A (p.Pro2408His)
c.7175C>A (p.Pro2392His)
c.7139C>A (p.Pro2380His)
c.7136C>A (p.Pro2379His)
c.7091C>A (p.Pro2364His)
n.7756C>A
Xg.77508374G>ACA413703470ATRXc.7456C>T (p.Pro2486Ser)
c.2554C>T (p.Pro852Ser)
c.7342C>T (p.Pro2448Ser)
c.*7084C>T (n.*7084C>T)
n.5776C>T
c.7453C>T (p.Pro2485Ser)
c.7369C>T (p.Pro2457Ser)
c.7339C>T (p.Pro2447Ser)
c.7291C>T (p.Pro2431Ser)
c.7252C>T (p.Pro2418Ser)
c.7177C>T (p.Pro2393Ser)
n.9048C>T
c.7366C>T (p.Pro2456Ser)
c.7336C>T (p.Pro2446Ser)
c.7288C>T (p.Pro2430Ser)
c.7255C>T (p.Pro2419Ser)
c.7225C>T (p.Pro2409Ser)
c.7222C>T (p.Pro2408Ser)
c.7174C>T (p.Pro2392Ser)
c.7138C>T (p.Pro2380Ser)
c.7135C>T (p.Pro2379Ser)
c.7090C>T (p.Pro2364Ser)
n.7755C>T
Xg.77508374G>CCA413703473ATRXc.7456C>G (p.Pro2486Ala)
c.2554C>G (p.Pro852Ala)
c.7342C>G (p.Pro2448Ala)
c.*7084C>G (n.*7084C>G)
n.5776C>G
c.7453C>G (p.Pro2485Ala)
c.7369C>G (p.Pro2457Ala)
c.7339C>G (p.Pro2447Ala)
c.7291C>G (p.Pro2431Ala)
c.7252C>G (p.Pro2418Ala)
c.7177C>G (p.Pro2393Ala)
n.9048C>G
c.7366C>G (p.Pro2456Ala)
c.7336C>G (p.Pro2446Ala)
c.7288C>G (p.Pro2430Ala)
c.7255C>G (p.Pro2419Ala)
c.7225C>G (p.Pro2409Ala)
c.7222C>G (p.Pro2408Ala)
c.7174C>G (p.Pro2392Ala)
c.7138C>G (p.Pro2380Ala)
c.7135C>G (p.Pro2379Ala)
c.7090C>G (p.Pro2364Ala)
n.7755C>G
Xg.77508374G>TCA413703476ATRXc.7456C>A (p.Pro2486Thr)
c.2554C>A (p.Pro852Thr)
c.7342C>A (p.Pro2448Thr)
c.*7084C>A (n.*7084C>A)
n.5776C>A
c.7453C>A (p.Pro2485Thr)
c.7369C>A (p.Pro2457Thr)
c.7339C>A (p.Pro2447Thr)
c.7291C>A (p.Pro2431Thr)
c.7252C>A (p.Pro2418Thr)
c.7177C>A (p.Pro2393Thr)
n.9048C>A
c.7366C>A (p.Pro2456Thr)
c.7336C>A (p.Pro2446Thr)
c.7288C>A (p.Pro2430Thr)
c.7255C>A (p.Pro2419Thr)
c.7225C>A (p.Pro2409Thr)
c.7222C>A (p.Pro2408Thr)
c.7174C>A (p.Pro2392Thr)
c.7138C>A (p.Pro2380Thr)
c.7135C>A (p.Pro2379Thr)
c.7090C>A (p.Pro2364Thr)
n.7755C>A
Xg.77508375T>ACA517373973ATRXc.7455A>T (p.Gly2485=)
c.2553A>T (p.Gly851=)
c.7341A>T (p.Gly2447=)
c.*7083A>T (n.*7083A>T)
n.5775A>T
c.7452A>T (p.Gly2484=)
c.7368A>T (p.Gly2456=)
c.7338A>T (p.Gly2446=)
c.7290A>T (p.Gly2430=)
c.7251A>T (p.Gly2417=)
c.7176A>T (p.Gly2392=)
n.9047A>T
c.7365A>T (p.Gly2455=)
c.7335A>T (p.Gly2445=)
c.7287A>T (p.Gly2429=)
c.7254A>T (p.Gly2418=)
c.7224A>T (p.Gly2408=)
c.7221A>T (p.Gly2407=)
c.7173A>T (p.Gly2391=)
c.7137A>T (p.Gly2379=)
c.7134A>T (p.Gly2378=)
c.7089A>T (p.Gly2363=)
n.7754A>T
Xg.77508375T>CCA517373974ATRXc.7455A>G (p.Gly2485=)
c.2553A>G (p.Gly851=)
c.7341A>G (p.Gly2447=)
c.*7083A>G (n.*7083A>G)
n.5775A>G
c.7452A>G (p.Gly2484=)
c.7368A>G (p.Gly2456=)
c.7338A>G (p.Gly2446=)
c.7290A>G (p.Gly2430=)
c.7251A>G (p.Gly2417=)
c.7176A>G (p.Gly2392=)
n.9047A>G
c.7365A>G (p.Gly2455=)
c.7335A>G (p.Gly2445=)
c.7287A>G (p.Gly2429=)
c.7254A>G (p.Gly2418=)
c.7224A>G (p.Gly2408=)
c.7221A>G (p.Gly2407=)
c.7173A>G (p.Gly2391=)
c.7137A>G (p.Gly2379=)
c.7134A>G (p.Gly2378=)
c.7089A>G (p.Gly2363=)
n.7754A>G
Xg.77508375T>GCA517373975ATRXc.7455A>C (p.Gly2485=)
c.2553A>C (p.Gly851=)
c.7341A>C (p.Gly2447=)
c.*7083A>C (n.*7083A>C)
n.5775A>C
c.7452A>C (p.Gly2484=)
c.7368A>C (p.Gly2456=)
c.7338A>C (p.Gly2446=)
c.7290A>C (p.Gly2430=)
c.7251A>C (p.Gly2417=)
c.7176A>C (p.Gly2392=)
n.9047A>C
c.7365A>C (p.Gly2455=)
c.7335A>C (p.Gly2445=)
c.7287A>C (p.Gly2429=)
c.7254A>C (p.Gly2418=)
c.7224A>C (p.Gly2408=)
c.7221A>C (p.Gly2407=)
c.7173A>C (p.Gly2391=)
c.7137A>C (p.Gly2379=)
c.7134A>C (p.Gly2378=)
c.7089A>C (p.Gly2363=)
n.7754A>C
Xg.77508376C>ACA413703479ATRXc.7454G>T (p.Gly2485Val)
c.2552G>T (p.Gly851Val)
c.7340G>T (p.Gly2447Val)
c.*7082G>T (n.*7082G>T)
n.5774G>T
c.7451G>T (p.Gly2484Val)
c.7367G>T (p.Gly2456Val)
c.7337G>T (p.Gly2446Val)
c.7289G>T (p.Gly2430Val)
c.7250G>T (p.Gly2417Val)
c.7175G>T (p.Gly2392Val)
n.9046G>T
c.7364G>T (p.Gly2455Val)
c.7334G>T (p.Gly2445Val)
c.7286G>T (p.Gly2429Val)
c.7253G>T (p.Gly2418Val)
c.7223G>T (p.Gly2408Val)
c.7220G>T (p.Gly2407Val)
c.7172G>T (p.Gly2391Val)
c.7136G>T (p.Gly2379Val)
c.7133G>T (p.Gly2378Val)
c.7088G>T (p.Gly2363Val)
n.7753G>T
Xg.77508376C=CA2438929021ATRXc.7454G= (p.Gly2485=)
c.2552G= (p.Gly851=)
c.7340G= (p.Gly2447=)
c.*7082G= (n.*7082G=)
n.5774G=
c.7451G= (p.Gly2484=)
c.7367G= (p.Gly2456=)
c.7337G= (p.Gly2446=)
c.7289G= (p.Gly2430=)
c.7250G= (p.Gly2417=)
c.7175G= (p.Gly2392=)
n.9046G=
c.7364G= (p.Gly2455=)
c.7334G= (p.Gly2445=)
c.7286G= (p.Gly2429=)
c.7253G= (p.Gly2418=)
c.7223G= (p.Gly2408=)
c.7220G= (p.Gly2407=)
c.7172G= (p.Gly2391=)
c.7136G= (p.Gly2379=)
c.7133G= (p.Gly2378=)
c.7088G= (p.Gly2363=)
n.7753G=
Xg.77508376C>GCA413703481ATRXc.7454G>C (p.Gly2485Ala)
c.2552G>C (p.Gly851Ala)
c.7340G>C (p.Gly2447Ala)
c.*7082G>C (n.*7082G>C)
n.5774G>C
c.7451G>C (p.Gly2484Ala)
c.7367G>C (p.Gly2456Ala)
c.7337G>C (p.Gly2446Ala)
c.7289G>C (p.Gly2430Ala)
c.7250G>C (p.Gly2417Ala)
c.7175G>C (p.Gly2392Ala)
n.9046G>C
c.7364G>C (p.Gly2455Ala)
c.7334G>C (p.Gly2445Ala)
c.7286G>C (p.Gly2429Ala)
c.7253G>C (p.Gly2418Ala)
c.7223G>C (p.Gly2408Ala)
c.7220G>C (p.Gly2407Ala)
c.7172G>C (p.Gly2391Ala)
c.7136G>C (p.Gly2379Ala)
c.7133G>C (p.Gly2378Ala)
c.7088G>C (p.Gly2363Ala)
n.7753G>C
Xg.77508376C>TCA10457374ATRXc.7454G>A (p.Gly2485Glu)
c.2552G>A (p.Gly851Glu)
c.7340G>A (p.Gly2447Glu)
c.*7082G>A (n.*7082G>A)
n.5774G>A
c.7451G>A (p.Gly2484Glu)
c.7367G>A (p.Gly2456Glu)
c.7337G>A (p.Gly2446Glu)
c.7289G>A (p.Gly2430Glu)
c.7250G>A (p.Gly2417Glu)
c.7175G>A (p.Gly2392Glu)
n.9046G>A
c.7364G>A (p.Gly2455Glu)
c.7334G>A (p.Gly2445Glu)
c.7286G>A (p.Gly2429Glu)
c.7253G>A (p.Gly2418Glu)
c.7223G>A (p.Gly2408Glu)
c.7220G>A (p.Gly2407Glu)
c.7172G>A (p.Gly2391Glu)
c.7136G>A (p.Gly2379Glu)
c.7133G>A (p.Gly2378Glu)
c.7088G>A (p.Gly2363Glu)
n.7753G>A
 ClinVar dbSNP ExAC gnomAD v2
Xg.77508377C>ACA413703487ATRXc.7453G>T (p.Gly2485Ter)
c.2551G>T (p.Gly851Ter)
c.7339G>T (p.Gly2447Ter)
c.*7081G>T (n.*7081G>T)
n.5773G>T
c.7450G>T (p.Gly2484Ter)
c.7366G>T (p.Gly2456Ter)
c.7336G>T (p.Gly2446Ter)
c.7288G>T (p.Gly2430Ter)
c.7249G>T (p.Gly2417Ter)
c.7174G>T (p.Gly2392Ter)
n.9045G>T
c.7363G>T (p.Gly2455Ter)
c.7333G>T (p.Gly2445Ter)
c.7285G>T (p.Gly2429Ter)
c.7252G>T (p.Gly2418Ter)
c.7222G>T (p.Gly2408Ter)
c.7219G>T (p.Gly2407Ter)
c.7171G>T (p.Gly2391Ter)
c.7135G>T (p.Gly2379Ter)
c.7132G>T (p.Gly2378Ter)
c.7087G>T (p.Gly2363Ter)
n.7752G>T
Xg.77508377C>GCA413703489ATRXc.7453G>C (p.Gly2485Arg)
c.2551G>C (p.Gly851Arg)
c.7339G>C (p.Gly2447Arg)
c.*7081G>C (n.*7081G>C)
n.5773G>C
c.7450G>C (p.Gly2484Arg)
c.7366G>C (p.Gly2456Arg)
c.7336G>C (p.Gly2446Arg)
c.7288G>C (p.Gly2430Arg)
c.7249G>C (p.Gly2417Arg)
c.7174G>C (p.Gly2392Arg)
n.9045G>C
c.7363G>C (p.Gly2455Arg)
c.7333G>C (p.Gly2445Arg)
c.7285G>C (p.Gly2429Arg)
c.7252G>C (p.Gly2418Arg)
c.7222G>C (p.Gly2408Arg)
c.7219G>C (p.Gly2407Arg)
c.7171G>C (p.Gly2391Arg)
c.7135G>C (p.Gly2379Arg)
c.7132G>C (p.Gly2378Arg)
c.7087G>C (p.Gly2363Arg)
n.7752G>C
Xg.77508377C>TCA413703490ATRXc.7453G>A (p.Gly2485Arg)
c.2551G>A (p.Gly851Arg)
c.7339G>A (p.Gly2447Arg)
c.*7081G>A (n.*7081G>A)
n.5773G>A
c.7450G>A (p.Gly2484Arg)
c.7366G>A (p.Gly2456Arg)
c.7336G>A (p.Gly2446Arg)
c.7288G>A (p.Gly2430Arg)
c.7249G>A (p.Gly2417Arg)
c.7174G>A (p.Gly2392Arg)
n.9045G>A
c.7363G>A (p.Gly2455Arg)
c.7333G>A (p.Gly2445Arg)
c.7285G>A (p.Gly2429Arg)
c.7252G>A (p.Gly2418Arg)
c.7222G>A (p.Gly2408Arg)
c.7219G>A (p.Gly2407Arg)
c.7171G>A (p.Gly2391Arg)
c.7135G>A (p.Gly2379Arg)
c.7132G>A (p.Gly2378Arg)
c.7087G>A (p.Gly2363Arg)
n.7752G>A
Xg.77508378T>ACA517373977ATRXc.7452A>T (p.Pro2484=)
c.2550A>T (p.Pro850=)
c.7338A>T (p.Pro2446=)
c.*7080A>T (n.*7080A>T)
n.5772A>T
c.7449A>T (p.Pro2483=)
c.7365A>T (p.Pro2455=)
c.7335A>T (p.Pro2445=)
c.7287A>T (p.Pro2429=)
c.7248A>T (p.Pro2416=)
c.7173A>T (p.Pro2391=)
n.9044A>T
c.7362A>T (p.Pro2454=)
c.7332A>T (p.Pro2444=)
c.7284A>T (p.Pro2428=)
c.7251A>T (p.Pro2417=)
c.7221A>T (p.Pro2407=)
c.7218A>T (p.Pro2406=)
c.7170A>T (p.Pro2390=)
c.7134A>T (p.Pro2378=)
c.7131A>T (p.Pro2377=)
c.7086A>T (p.Pro2362=)
n.7751A>T
Xg.77508378T>CCA517373978ATRXc.7452A>G (p.Pro2484=)
c.2550A>G (p.Pro850=)
c.7338A>G (p.Pro2446=)
c.*7080A>G (n.*7080A>G)
n.5772A>G
c.7449A>G (p.Pro2483=)
c.7365A>G (p.Pro2455=)
c.7335A>G (p.Pro2445=)
c.7287A>G (p.Pro2429=)
c.7248A>G (p.Pro2416=)
c.7173A>G (p.Pro2391=)
n.9044A>G
c.7362A>G (p.Pro2454=)
c.7332A>G (p.Pro2444=)
c.7284A>G (p.Pro2428=)
c.7251A>G (p.Pro2417=)
c.7221A>G (p.Pro2407=)
c.7218A>G (p.Pro2406=)
c.7170A>G (p.Pro2390=)
c.7134A>G (p.Pro2378=)
c.7131A>G (p.Pro2377=)
c.7086A>G (p.Pro2362=)
n.7751A>G
Xg.77508378T>GCA517373979ATRXc.7452A>C (p.Pro2484=)
c.2550A>C (p.Pro850=)
c.7338A>C (p.Pro2446=)
c.*7080A>C (n.*7080A>C)
n.5772A>C
c.7449A>C (p.Pro2483=)
c.7365A>C (p.Pro2455=)
c.7335A>C (p.Pro2445=)
c.7287A>C (p.Pro2429=)
c.7248A>C (p.Pro2416=)
c.7173A>C (p.Pro2391=)
n.9044A>C
c.7362A>C (p.Pro2454=)
c.7332A>C (p.Pro2444=)
c.7284A>C (p.Pro2428=)
c.7251A>C (p.Pro2417=)
c.7221A>C (p.Pro2407=)
c.7218A>C (p.Pro2406=)
c.7170A>C (p.Pro2390=)
c.7134A>C (p.Pro2378=)
c.7131A>C (p.Pro2377=)
c.7086A>C (p.Pro2362=)
n.7751A>C
Xg.77508379G>ACA413703497ATRXc.7451C>T (p.Pro2484Leu)
c.2549C>T (p.Pro850Leu)
c.7337C>T (p.Pro2446Leu)
c.*7079C>T (n.*7079C>T)
n.5771C>T
c.7448C>T (p.Pro2483Leu)
c.7364C>T (p.Pro2455Leu)
c.7334C>T (p.Pro2445Leu)
c.7286C>T (p.Pro2429Leu)
c.7247C>T (p.Pro2416Leu)
c.7172C>T (p.Pro2391Leu)
n.9043C>T
c.7361C>T (p.Pro2454Leu)
c.7331C>T (p.Pro2444Leu)
c.7283C>T (p.Pro2428Leu)
c.7250C>T (p.Pro2417Leu)
c.7220C>T (p.Pro2407Leu)
c.7217C>T (p.Pro2406Leu)
c.7169C>T (p.Pro2390Leu)
c.7133C>T (p.Pro2378Leu)
c.7130C>T (p.Pro2377Leu)
c.7085C>T (p.Pro2362Leu)
n.7750C>T
Xg.77508379G>CCA413703493ATRXc.7451C>G (p.Pro2484Arg)
c.2549C>G (p.Pro850Arg)
c.7337C>G (p.Pro2446Arg)
c.*7079C>G (n.*7079C>G)
n.5771C>G
c.7448C>G (p.Pro2483Arg)
c.7364C>G (p.Pro2455Arg)
c.7334C>G (p.Pro2445Arg)
c.7286C>G (p.Pro2429Arg)
c.7247C>G (p.Pro2416Arg)
c.7172C>G (p.Pro2391Arg)
n.9043C>G
c.7361C>G (p.Pro2454Arg)
c.7331C>G (p.Pro2444Arg)
c.7283C>G (p.Pro2428Arg)
c.7250C>G (p.Pro2417Arg)
c.7220C>G (p.Pro2407Arg)
c.7217C>G (p.Pro2406Arg)
c.7169C>G (p.Pro2390Arg)
c.7133C>G (p.Pro2378Arg)
c.7130C>G (p.Pro2377Arg)
c.7085C>G (p.Pro2362Arg)
n.7750C>G
 dbSNP
Xg.77508379G>TCA413703491ATRXc.7451C>A (p.Pro2484Gln)
c.2549C>A (p.Pro850Gln)
c.7337C>A (p.Pro2446Gln)
c.*7079C>A (n.*7079C>A)
n.5771C>A
c.7448C>A (p.Pro2483Gln)
c.7364C>A (p.Pro2455Gln)
c.7334C>A (p.Pro2445Gln)
c.7286C>A (p.Pro2429Gln)
c.7247C>A (p.Pro2416Gln)
c.7172C>A (p.Pro2391Gln)
n.9043C>A
c.7361C>A (p.Pro2454Gln)
c.7331C>A (p.Pro2444Gln)
c.7283C>A (p.Pro2428Gln)
c.7250C>A (p.Pro2417Gln)
c.7220C>A (p.Pro2407Gln)
c.7217C>A (p.Pro2406Gln)
c.7169C>A (p.Pro2390Gln)
c.7133C>A (p.Pro2378Gln)
c.7130C>A (p.Pro2377Gln)
c.7085C>A (p.Pro2362Gln)
n.7750C>A
Xg.77508380G>ACA413703500ATRXc.7450C>T (p.Pro2484Ser)
c.2548C>T (p.Pro850Ser)
c.7336C>T (p.Pro2446Ser)
c.*7078C>T (n.*7078C>T)
n.5770C>T
c.7447C>T (p.Pro2483Ser)
c.7363C>T (p.Pro2455Ser)
c.7333C>T (p.Pro2445Ser)
c.7285C>T (p.Pro2429Ser)
c.7246C>T (p.Pro2416Ser)
c.7171C>T (p.Pro2391Ser)
n.9042C>T
c.7360C>T (p.Pro2454Ser)
c.7330C>T (p.Pro2444Ser)
c.7282C>T (p.Pro2428Ser)
c.7249C>T (p.Pro2417Ser)
c.7219C>T (p.Pro2407Ser)
c.7216C>T (p.Pro2406Ser)
c.7168C>T (p.Pro2390Ser)
c.7132C>T (p.Pro2378Ser)
c.7129C>T (p.Pro2377Ser)
c.7084C>T (p.Pro2362Ser)
n.7749C>T
Xg.77508380G>CCA413703503ATRXc.7450C>G (p.Pro2484Ala)
c.2548C>G (p.Pro850Ala)
c.7336C>G (p.Pro2446Ala)
c.*7078C>G (n.*7078C>G)
n.5770C>G
c.7447C>G (p.Pro2483Ala)
c.7363C>G (p.Pro2455Ala)
c.7333C>G (p.Pro2445Ala)
c.7285C>G (p.Pro2429Ala)
c.7246C>G (p.Pro2416Ala)
c.7171C>G (p.Pro2391Ala)
n.9042C>G
c.7360C>G (p.Pro2454Ala)
c.7330C>G (p.Pro2444Ala)
c.7282C>G (p.Pro2428Ala)
c.7249C>G (p.Pro2417Ala)
c.7219C>G (p.Pro2407Ala)
c.7216C>G (p.Pro2406Ala)
c.7168C>G (p.Pro2390Ala)
c.7132C>G (p.Pro2378Ala)
c.7129C>G (p.Pro2377Ala)
c.7084C>G (p.Pro2362Ala)
n.7749C>G
 gnomAD v4
Xg.77508380G>TCA413703506ATRXc.7450C>A (p.Pro2484Thr)
c.2548C>A (p.Pro850Thr)
c.7336C>A (p.Pro2446Thr)
c.*7078C>A (n.*7078C>A)
n.5770C>A
c.7447C>A (p.Pro2483Thr)
c.7363C>A (p.Pro2455Thr)
c.7333C>A (p.Pro2445Thr)
c.7285C>A (p.Pro2429Thr)
c.7246C>A (p.Pro2416Thr)
c.7171C>A (p.Pro2391Thr)
n.9042C>A
c.7360C>A (p.Pro2454Thr)
c.7330C>A (p.Pro2444Thr)
c.7282C>A (p.Pro2428Thr)
c.7249C>A (p.Pro2417Thr)
c.7219C>A (p.Pro2407Thr)
c.7216C>A (p.Pro2406Thr)
c.7168C>A (p.Pro2390Thr)
c.7132C>A (p.Pro2378Thr)
c.7129C>A (p.Pro2377Thr)
c.7084C>A (p.Pro2362Thr)
n.7749C>A
Xg.77508381delCA645602237ATRXc.7449del (p.Pro2484GlnfsTer16)
c.2547del (p.Pro850GlnfsTer16)
c.7335del (p.Pro2446GlnfsTer16)
c.*7077del (n.*7077del)
n.5769del
c.7446del (p.Pro2483GlnfsTer16)
c.7362del (p.Pro2455GlnfsTer16)
c.7332del (p.Pro2445GlnfsTer16)
c.7284del (p.Pro2429GlnfsTer16)
c.7245del (p.Pro2416GlnfsTer16)
c.7170del (p.Pro2391GlnfsTer16)
n.9041del
c.7359del (p.Pro2454GlnfsTer16)
c.7329del (p.Pro2444GlnfsTer16)
c.7281del (p.Pro2428GlnfsTer16)
c.7248del (p.Pro2417GlnfsTer16)
c.7218del (p.Pro2407GlnfsTer16)
c.7215del (p.Pro2406GlnfsTer16)
c.7167del (p.Pro2390GlnfsTer16)
c.7131del (p.Pro2378GlnfsTer16)
c.7128del (p.Pro2377GlnfsTer16)
c.7083del (p.Pro2362GlnfsTer16)
n.7748del
 COSMIC
Xg.77508381A>CCA413703509ATRXc.7449T>G (p.Asn2483Lys)
c.2547T>G (p.Asn849Lys)
c.7335T>G (p.Asn2445Lys)
c.*7077T>G (n.*7077T>G)
n.5769T>G
c.7446T>G (p.Asn2482Lys)
c.7362T>G (p.Asn2454Lys)
c.7332T>G (p.Asn2444Lys)
c.7284T>G (p.Asn2428Lys)
c.7245T>G (p.Asn2415Lys)
c.7170T>G (p.Asn2390Lys)
n.9041T>G
c.7359T>G (p.Asn2453Lys)
c.7329T>G (p.Asn2443Lys)
c.7281T>G (p.Asn2427Lys)
c.7248T>G (p.Asn2416Lys)
c.7218T>G (p.Asn2406Lys)
c.7215T>G (p.Asn2405Lys)
c.7167T>G (p.Asn2389Lys)
c.7131T>G (p.Asn2377Lys)
c.7128T>G (p.Asn2376Lys)
c.7083T>G (p.Asn2361Lys)
n.7748T>G
Xg.77508381A>GCA517373981ATRXc.7449T>C (p.Asn2483=)
c.2547T>C (p.Asn849=)
c.7335T>C (p.Asn2445=)
c.*7077T>C (n.*7077T>C)
n.5769T>C
c.7446T>C (p.Asn2482=)
c.7362T>C (p.Asn2454=)
c.7332T>C (p.Asn2444=)
c.7284T>C (p.Asn2428=)
c.7245T>C (p.Asn2415=)
c.7170T>C (p.Asn2390=)
n.9041T>C
c.7359T>C (p.Asn2453=)
c.7329T>C (p.Asn2443=)
c.7281T>C (p.Asn2427=)
c.7248T>C (p.Asn2416=)
c.7218T>C (p.Asn2406=)
c.7215T>C (p.Asn2405=)
c.7167T>C (p.Asn2389=)
c.7131T>C (p.Asn2377=)
c.7128T>C (p.Asn2376=)
c.7083T>C (p.Asn2361=)
n.7748T>C
Xg.77508381A>TCA413703510ATRXc.7449T>A (p.Asn2483Lys)
c.2547T>A (p.Asn849Lys)
c.7335T>A (p.Asn2445Lys)
c.*7077T>A (n.*7077T>A)
n.5769T>A
c.7446T>A (p.Asn2482Lys)
c.7362T>A (p.Asn2454Lys)
c.7332T>A (p.Asn2444Lys)
c.7284T>A (p.Asn2428Lys)
c.7245T>A (p.Asn2415Lys)
c.7170T>A (p.Asn2390Lys)
n.9041T>A
c.7359T>A (p.Asn2453Lys)
c.7329T>A (p.Asn2443Lys)
c.7281T>A (p.Asn2427Lys)
c.7248T>A (p.Asn2416Lys)
c.7218T>A (p.Asn2406Lys)
c.7215T>A (p.Asn2405Lys)
c.7167T>A (p.Asn2389Lys)
c.7131T>A (p.Asn2377Lys)
c.7128T>A (p.Asn2376Lys)
c.7083T>A (p.Asn2361Lys)
n.7748T>A
Xg.77508382T>ACA413703515ATRXc.7448A>T (p.Asn2483Ile)
c.2546A>T (p.Asn849Ile)
c.7334A>T (p.Asn2445Ile)
c.*7076A>T (n.*7076A>T)
n.5768A>T
c.7445A>T (p.Asn2482Ile)
c.7361A>T (p.Asn2454Ile)
c.7331A>T (p.Asn2444Ile)
c.7283A>T (p.Asn2428Ile)
c.7244A>T (p.Asn2415Ile)
c.7169A>T (p.Asn2390Ile)
n.9040A>T
c.7358A>T (p.Asn2453Ile)
c.7328A>T (p.Asn2443Ile)
c.7280A>T (p.Asn2427Ile)
c.7247A>T (p.Asn2416Ile)
c.7217A>T (p.Asn2406Ile)
c.7214A>T (p.Asn2405Ile)
c.7166A>T (p.Asn2389Ile)
c.7130A>T (p.Asn2377Ile)
c.7127A>T (p.Asn2376Ile)
c.7082A>T (p.Asn2361Ile)
n.7747A>T
Xg.77508382T>CCA413703518ATRXc.7448A>G (p.Asn2483Ser)
c.2546A>G (p.Asn849Ser)
c.7334A>G (p.Asn2445Ser)
c.*7076A>G (n.*7076A>G)
n.5768A>G
c.7445A>G (p.Asn2482Ser)
c.7361A>G (p.Asn2454Ser)
c.7331A>G (p.Asn2444Ser)
c.7283A>G (p.Asn2428Ser)
c.7244A>G (p.Asn2415Ser)
c.7169A>G (p.Asn2390Ser)
n.9040A>G
c.7358A>G (p.Asn2453Ser)
c.7328A>G (p.Asn2443Ser)
c.7280A>G (p.Asn2427Ser)
c.7247A>G (p.Asn2416Ser)
c.7217A>G (p.Asn2406Ser)
c.7214A>G (p.Asn2405Ser)
c.7166A>G (p.Asn2389Ser)
c.7130A>G (p.Asn2377Ser)
c.7127A>G (p.Asn2376Ser)
c.7082A>G (p.Asn2361Ser)
n.7747A>G
Xg.77508382T>GCA413703521ATRXc.7448A>C (p.Asn2483Thr)
c.2546A>C (p.Asn849Thr)
c.7334A>C (p.Asn2445Thr)
c.*7076A>C (n.*7076A>C)
n.5768A>C
c.7445A>C (p.Asn2482Thr)
c.7361A>C (p.Asn2454Thr)
c.7331A>C (p.Asn2444Thr)
c.7283A>C (p.Asn2428Thr)
c.7244A>C (p.Asn2415Thr)
c.7169A>C (p.Asn2390Thr)
n.9040A>C
c.7358A>C (p.Asn2453Thr)
c.7328A>C (p.Asn2443Thr)
c.7280A>C (p.Asn2427Thr)
c.7247A>C (p.Asn2416Thr)
c.7217A>C (p.Asn2406Thr)
c.7214A>C (p.Asn2405Thr)
c.7166A>C (p.Asn2389Thr)
c.7130A>C (p.Asn2377Thr)
c.7127A>C (p.Asn2376Thr)
c.7082A>C (p.Asn2361Thr)
n.7747A>C
Xg.77508386dupCA2579648637ATRXc.7448dup (p.Asn2483LysfsTer15)
c.2546dup (p.Asn849LysfsTer15)
c.7334dup (p.Asn2445LysfsTer15)
c.*7076dup (n.*7076dup)
n.5768dup
c.7445dup (p.Asn2482LysfsTer15)
c.7361dup (p.Asn2454LysfsTer15)
c.7331dup (p.Asn2444LysfsTer15)
c.7283dup (p.Asn2428LysfsTer15)
c.7244dup (p.Asn2415LysfsTer15)
c.7169dup (p.Asn2390LysfsTer15)
n.9040dup
c.7358dup (p.Asn2453LysfsTer15)
c.7328dup (p.Asn2443LysfsTer15)
c.7280dup (p.Asn2427LysfsTer15)
c.7247dup (p.Asn2416LysfsTer15)
c.7217dup (p.Asn2406LysfsTer15)
c.7214dup (p.Asn2405LysfsTer15)
c.7166dup (p.Asn2389LysfsTer15)
c.7130dup (p.Asn2377LysfsTer15)
c.7127dup (p.Asn2376LysfsTer15)
c.7082dup (p.Asn2361LysfsTer15)
n.7747dup
Xg.77508383T>ACA413703524ATRXc.7447A>T (p.Asn2483Tyr)
c.2545A>T (p.Asn849Tyr)
c.7333A>T (p.Asn2445Tyr)
c.*7075A>T (n.*7075A>T)
n.5767A>T
c.7444A>T (p.Asn2482Tyr)
c.7360A>T (p.Asn2454Tyr)
c.7330A>T (p.Asn2444Tyr)
c.7282A>T (p.Asn2428Tyr)
c.7243A>T (p.Asn2415Tyr)
c.7168A>T (p.Asn2390Tyr)
n.9039A>T
c.7357A>T (p.Asn2453Tyr)
c.7327A>T (p.Asn2443Tyr)
c.7279A>T (p.Asn2427Tyr)
c.7246A>T (p.Asn2416Tyr)
c.7216A>T (p.Asn2406Tyr)
c.7213A>T (p.Asn2405Tyr)
c.7165A>T (p.Asn2389Tyr)
c.7129A>T (p.Asn2377Tyr)
c.7126A>T (p.Asn2376Tyr)
c.7081A>T (p.Asn2361Tyr)
n.7746A>T
Xg.77508383T>CCA413703527ATRXc.7447A>G (p.Asn2483Asp)
c.2545A>G (p.Asn849Asp)
c.7333A>G (p.Asn2445Asp)
c.*7075A>G (n.*7075A>G)
n.5767A>G
c.7444A>G (p.Asn2482Asp)
c.7360A>G (p.Asn2454Asp)
c.7330A>G (p.Asn2444Asp)
c.7282A>G (p.Asn2428Asp)
c.7243A>G (p.Asn2415Asp)
c.7168A>G (p.Asn2390Asp)
n.9039A>G
c.7357A>G (p.Asn2453Asp)
c.7327A>G (p.Asn2443Asp)
c.7279A>G (p.Asn2427Asp)
c.7246A>G (p.Asn2416Asp)
c.7216A>G (p.Asn2406Asp)
c.7213A>G (p.Asn2405Asp)
c.7165A>G (p.Asn2389Asp)
c.7129A>G (p.Asn2377Asp)
c.7126A>G (p.Asn2376Asp)
c.7081A>G (p.Asn2361Asp)
n.7746A>G
Xg.77508383T>GCA413703530ATRXc.7447A>C (p.Asn2483His)
c.2545A>C (p.Asn849His)
c.7333A>C (p.Asn2445His)
c.*7075A>C (n.*7075A>C)
n.5767A>C
c.7444A>C (p.Asn2482His)
c.7360A>C (p.Asn2454His)
c.7330A>C (p.Asn2444His)
c.7282A>C (p.Asn2428His)
c.7243A>C (p.Asn2415His)
c.7168A>C (p.Asn2390His)
n.9039A>C
c.7357A>C (p.Asn2453His)
c.7327A>C (p.Asn2443His)
c.7279A>C (p.Asn2427His)
c.7246A>C (p.Asn2416His)
c.7216A>C (p.Asn2406His)
c.7213A>C (p.Asn2405His)
c.7165A>C (p.Asn2389His)
c.7129A>C (p.Asn2377His)
c.7126A>C (p.Asn2376His)
c.7081A>C (p.Asn2361His)
n.7746A>C
Xg.77508384T>ACA413703533ATRXc.7446A>T (p.Lys2482Asn)
c.2544A>T (p.Lys848Asn)
c.7332A>T (p.Lys2444Asn)
c.*7074A>T (n.*7074A>T)
n.5766A>T
c.7443A>T (p.Lys2481Asn)
c.7359A>T (p.Lys2453Asn)
c.7329A>T (p.Lys2443Asn)
c.7281A>T (p.Lys2427Asn)
c.7242A>T (p.Lys2414Asn)
c.7167A>T (p.Lys2389Asn)
n.9038A>T
c.7356A>T (p.Lys2452Asn)
c.7326A>T (p.Lys2442Asn)
c.7278A>T (p.Lys2426Asn)
c.7245A>T (p.Lys2415Asn)
c.7215A>T (p.Lys2405Asn)
c.7212A>T (p.Lys2404Asn)
c.7164A>T (p.Lys2388Asn)
c.7128A>T (p.Lys2376Asn)
c.7125A>T (p.Lys2375Asn)
c.7080A>T (p.Lys2360Asn)
n.7745A>T
Xg.77508384T>CCA517373983ATRXc.7446A>G (p.Lys2482=)
c.2544A>G (p.Lys848=)
c.7332A>G (p.Lys2444=)
c.*7074A>G (n.*7074A>G)
n.5766A>G
c.7443A>G (p.Lys2481=)
c.7359A>G (p.Lys2453=)
c.7329A>G (p.Lys2443=)
c.7281A>G (p.Lys2427=)
c.7242A>G (p.Lys2414=)
c.7167A>G (p.Lys2389=)
n.9038A>G
c.7356A>G (p.Lys2452=)
c.7326A>G (p.Lys2442=)
c.7278A>G (p.Lys2426=)
c.7245A>G (p.Lys2415=)
c.7215A>G (p.Lys2405=)
c.7212A>G (p.Lys2404=)
c.7164A>G (p.Lys2388=)
c.7128A>G (p.Lys2376=)
c.7125A>G (p.Lys2375=)
c.7080A>G (p.Lys2360=)
n.7745A>G
Xg.77508384T>GCA413703537ATRXc.7446A>C (p.Lys2482Asn)
c.2544A>C (p.Lys848Asn)
c.7332A>C (p.Lys2444Asn)
c.*7074A>C (n.*7074A>C)
n.5766A>C
c.7443A>C (p.Lys2481Asn)
c.7359A>C (p.Lys2453Asn)
c.7329A>C (p.Lys2443Asn)
c.7281A>C (p.Lys2427Asn)
c.7242A>C (p.Lys2414Asn)
c.7167A>C (p.Lys2389Asn)
n.9038A>C
c.7356A>C (p.Lys2452Asn)
c.7326A>C (p.Lys2442Asn)
c.7278A>C (p.Lys2426Asn)
c.7245A>C (p.Lys2415Asn)
c.7215A>C (p.Lys2405Asn)
c.7212A>C (p.Lys2404Asn)
c.7164A>C (p.Lys2388Asn)
c.7128A>C (p.Lys2376Asn)
c.7125A>C (p.Lys2375Asn)
c.7080A>C (p.Lys2360Asn)
n.7745A>C
Xg.77508385T>ACA413703545ATRXc.7445A>T (p.Lys2482Ile)
c.2543A>T (p.Lys848Ile)
c.7331A>T (p.Lys2444Ile)
c.*7073A>T (n.*7073A>T)
n.5765A>T
c.7442A>T (p.Lys2481Ile)
c.7358A>T (p.Lys2453Ile)
c.7328A>T (p.Lys2443Ile)
c.7280A>T (p.Lys2427Ile)
c.7241A>T (p.Lys2414Ile)
c.7166A>T (p.Lys2389Ile)
n.9037A>T
c.7355A>T (p.Lys2452Ile)
c.7325A>T (p.Lys2442Ile)
c.7277A>T (p.Lys2426Ile)
c.7244A>T (p.Lys2415Ile)
c.7214A>T (p.Lys2405Ile)
c.7211A>T (p.Lys2404Ile)
c.7163A>T (p.Lys2388Ile)
c.7127A>T (p.Lys2376Ile)
c.7124A>T (p.Lys2375Ile)
c.7079A>T (p.Lys2360Ile)
n.7744A>T
Xg.77508385T>CCA413703549ATRXc.7445A>G (p.Lys2482Arg)
c.2543A>G (p.Lys848Arg)
c.7331A>G (p.Lys2444Arg)
c.*7073A>G (n.*7073A>G)
n.5765A>G
c.7442A>G (p.Lys2481Arg)
c.7358A>G (p.Lys2453Arg)
c.7328A>G (p.Lys2443Arg)
c.7280A>G (p.Lys2427Arg)
c.7241A>G (p.Lys2414Arg)
c.7166A>G (p.Lys2389Arg)
n.9037A>G
c.7355A>G (p.Lys2452Arg)
c.7325A>G (p.Lys2442Arg)
c.7277A>G (p.Lys2426Arg)
c.7244A>G (p.Lys2415Arg)
c.7214A>G (p.Lys2405Arg)
c.7211A>G (p.Lys2404Arg)
c.7163A>G (p.Lys2388Arg)
c.7127A>G (p.Lys2376Arg)
c.7124A>G (p.Lys2375Arg)
c.7079A>G (p.Lys2360Arg)
n.7744A>G
 dbSNP
Xg.77508385T>GCA413703542ATRXc.7445A>C (p.Lys2482Thr)
c.2543A>C (p.Lys848Thr)
c.7331A>C (p.Lys2444Thr)
c.*7073A>C (n.*7073A>C)
n.5765A>C
c.7442A>C (p.Lys2481Thr)
c.7358A>C (p.Lys2453Thr)
c.7328A>C (p.Lys2443Thr)
c.7280A>C (p.Lys2427Thr)
c.7241A>C (p.Lys2414Thr)
c.7166A>C (p.Lys2389Thr)
n.9037A>C
c.7355A>C (p.Lys2452Thr)
c.7325A>C (p.Lys2442Thr)
c.7277A>C (p.Lys2426Thr)
c.7244A>C (p.Lys2415Thr)
c.7214A>C (p.Lys2405Thr)
c.7211A>C (p.Lys2404Thr)
c.7163A>C (p.Lys2388Thr)
c.7127A>C (p.Lys2376Thr)
c.7124A>C (p.Lys2375Thr)
c.7079A>C (p.Lys2360Thr)
n.7744A>C
 dbSNP
Xg.77508385T=CA2438929022ATRXc.7445A= (p.Lys2482=)
c.2543A= (p.Lys848=)
c.7331A= (p.Lys2444=)
c.*7073A= (n.*7073A=)
n.5765A=
c.7442A= (p.Lys2481=)
c.7358A= (p.Lys2453=)
c.7328A= (p.Lys2443=)
c.7280A= (p.Lys2427=)
c.7241A= (p.Lys2414=)
c.7166A= (p.Lys2389=)
n.9037A=
c.7355A= (p.Lys2452=)
c.7325A= (p.Lys2442=)
c.7277A= (p.Lys2426=)
c.7244A= (p.Lys2415=)
c.7214A= (p.Lys2405=)
c.7211A= (p.Lys2404=)
c.7163A= (p.Lys2388=)
c.7127A= (p.Lys2376=)
c.7124A= (p.Lys2375=)
c.7079A= (p.Lys2360=)
n.7744A=
Xg.77508386T>ACA413703553ATRXc.7444A>T (p.Lys2482Ter)
c.2542A>T (p.Lys848Ter)
c.7330A>T (p.Lys2444Ter)
c.*7072A>T (n.*7072A>T)
n.5764A>T
c.7441A>T (p.Lys2481Ter)
c.7357A>T (p.Lys2453Ter)
c.7327A>T (p.Lys2443Ter)
c.7279A>T (p.Lys2427Ter)
c.7240A>T (p.Lys2414Ter)
c.7165A>T (p.Lys2389Ter)
n.9036A>T
c.7354A>T (p.Lys2452Ter)
c.7324A>T (p.Lys2442Ter)
c.7276A>T (p.Lys2426Ter)
c.7243A>T (p.Lys2415Ter)
c.7213A>T (p.Lys2405Ter)
c.7210A>T (p.Lys2404Ter)
c.7162A>T (p.Lys2388Ter)
c.7126A>T (p.Lys2376Ter)
c.7123A>T (p.Lys2375Ter)
c.7078A>T (p.Lys2360Ter)
n.7743A>T
Xg.77508386T>CCA413703555ATRXc.7444A>G (p.Lys2482Glu)
c.2542A>G (p.Lys848Glu)
c.7330A>G (p.Lys2444Glu)
c.*7072A>G (n.*7072A>G)
n.5764A>G
c.7441A>G (p.Lys2481Glu)
c.7357A>G (p.Lys2453Glu)
c.7327A>G (p.Lys2443Glu)
c.7279A>G (p.Lys2427Glu)
c.7240A>G (p.Lys2414Glu)
c.7165A>G (p.Lys2389Glu)
n.9036A>G
c.7354A>G (p.Lys2452Glu)
c.7324A>G (p.Lys2442Glu)
c.7276A>G (p.Lys2426Glu)
c.7243A>G (p.Lys2415Glu)
c.7213A>G (p.Lys2405Glu)
c.7210A>G (p.Lys2404Glu)
c.7162A>G (p.Lys2388Glu)
c.7126A>G (p.Lys2376Glu)
c.7123A>G (p.Lys2375Glu)
c.7078A>G (p.Lys2360Glu)
n.7743A>G
Xg.77508386T>GCA413703557ATRXc.7444A>C (p.Lys2482Gln)
c.2542A>C (p.Lys848Gln)
c.7330A>C (p.Lys2444Gln)
c.*7072A>C (n.*7072A>C)
n.5764A>C
c.7441A>C (p.Lys2481Gln)
c.7357A>C (p.Lys2453Gln)
c.7327A>C (p.Lys2443Gln)
c.7279A>C (p.Lys2427Gln)
c.7240A>C (p.Lys2414Gln)
c.7165A>C (p.Lys2389Gln)
n.9036A>C
c.7354A>C (p.Lys2452Gln)
c.7324A>C (p.Lys2442Gln)
c.7276A>C (p.Lys2426Gln)
c.7243A>C (p.Lys2415Gln)
c.7213A>C (p.Lys2405Gln)
c.7210A>C (p.Lys2404Gln)
c.7162A>C (p.Lys2388Gln)
c.7126A>C (p.Lys2376Gln)
c.7123A>C (p.Lys2375Gln)
c.7078A>C (p.Lys2360Gln)
n.7743A>C
Xg.77508387G>ACA517373985ATRXc.7443C>T (p.Ser2481=)
c.2541C>T (p.Ser847=)
c.7329C>T (p.Ser2443=)
c.*7071C>T (n.*7071C>T)
n.5763C>T
c.7440C>T (p.Ser2480=)
c.7356C>T (p.Ser2452=)
c.7326C>T (p.Ser2442=)
c.7278C>T (p.Ser2426=)
c.7239C>T (p.Ser2413=)
c.7164C>T (p.Ser2388=)
n.9035C>T
c.7353C>T (p.Ser2451=)
c.7323C>T (p.Ser2441=)
c.7275C>T (p.Ser2425=)
c.7242C>T (p.Ser2414=)
c.7212C>T (p.Ser2404=)
c.7209C>T (p.Ser2403=)
c.7161C>T (p.Ser2387=)
c.7125C>T (p.Ser2375=)
c.7122C>T (p.Ser2374=)
c.7077C>T (p.Ser2359=)
n.7742C>T
Xg.77508387G>CCA413703560ATRXc.7443C>G (p.Ser2481Arg)
c.2541C>G (p.Ser847Arg)
c.7329C>G (p.Ser2443Arg)
c.*7071C>G (n.*7071C>G)
n.5763C>G
c.7440C>G (p.Ser2480Arg)
c.7356C>G (p.Ser2452Arg)
c.7326C>G (p.Ser2442Arg)
c.7278C>G (p.Ser2426Arg)
c.7239C>G (p.Ser2413Arg)
c.7164C>G (p.Ser2388Arg)
n.9035C>G
c.7353C>G (p.Ser2451Arg)
c.7323C>G (p.Ser2441Arg)
c.7275C>G (p.Ser2425Arg)
c.7242C>G (p.Ser2414Arg)
c.7212C>G (p.Ser2404Arg)
c.7209C>G (p.Ser2403Arg)
c.7161C>G (p.Ser2387Arg)
c.7125C>G (p.Ser2375Arg)
c.7122C>G (p.Ser2374Arg)
c.7077C>G (p.Ser2359Arg)
n.7742C>G
Xg.77508387G>TCA413703565ATRXc.7443C>A (p.Ser2481Arg)
c.2541C>A (p.Ser847Arg)
c.7329C>A (p.Ser2443Arg)
c.*7071C>A (n.*7071C>A)
n.5763C>A
c.7440C>A (p.Ser2480Arg)
c.7356C>A (p.Ser2452Arg)
c.7326C>A (p.Ser2442Arg)
c.7278C>A (p.Ser2426Arg)
c.7239C>A (p.Ser2413Arg)
c.7164C>A (p.Ser2388Arg)
n.9035C>A
c.7353C>A (p.Ser2451Arg)
c.7323C>A (p.Ser2441Arg)
c.7275C>A (p.Ser2425Arg)
c.7242C>A (p.Ser2414Arg)
c.7212C>A (p.Ser2404Arg)
c.7209C>A (p.Ser2403Arg)
c.7161C>A (p.Ser2387Arg)
c.7125C>A (p.Ser2375Arg)
c.7122C>A (p.Ser2374Arg)
c.7077C>A (p.Ser2359Arg)
n.7742C>A
Xg.77508388C>ACA413703567ATRXc.7442G>T (p.Ser2481Ile)
c.2540G>T (p.Ser847Ile)
c.7328G>T (p.Ser2443Ile)
c.*7070G>T (n.*7070G>T)
n.5762G>T
c.7439G>T (p.Ser2480Ile)
c.7355G>T (p.Ser2452Ile)
c.7325G>T (p.Ser2442Ile)
c.7277G>T (p.Ser2426Ile)
c.7238G>T (p.Ser2413Ile)
c.7163G>T (p.Ser2388Ile)
n.9034G>T
c.7352G>T (p.Ser2451Ile)
c.7322G>T (p.Ser2441Ile)
c.7274G>T (p.Ser2425Ile)
c.7241G>T (p.Ser2414Ile)
c.7211G>T (p.Ser2404Ile)
c.7208G>T (p.Ser2403Ile)
c.7160G>T (p.Ser2387Ile)
c.7124G>T (p.Ser2375Ile)
c.7121G>T (p.Ser2374Ile)
c.7076G>T (p.Ser2359Ile)
n.7741G>T
Xg.77508388C>GCA413703568ATRXc.7442G>C (p.Ser2481Thr)
c.2540G>C (p.Ser847Thr)
c.7328G>C (p.Ser2443Thr)
c.*7070G>C (n.*7070G>C)
n.5762G>C
c.7439G>C (p.Ser2480Thr)
c.7355G>C (p.Ser2452Thr)
c.7325G>C (p.Ser2442Thr)
c.7277G>C (p.Ser2426Thr)
c.7238G>C (p.Ser2413Thr)
c.7163G>C (p.Ser2388Thr)
n.9034G>C
c.7352G>C (p.Ser2451Thr)
c.7322G>C (p.Ser2441Thr)
c.7274G>C (p.Ser2425Thr)
c.7241G>C (p.Ser2414Thr)
c.7211G>C (p.Ser2404Thr)
c.7208G>C (p.Ser2403Thr)
c.7160G>C (p.Ser2387Thr)
c.7124G>C (p.Ser2375Thr)
c.7121G>C (p.Ser2374Thr)
c.7076G>C (p.Ser2359Thr)
n.7741G>C
Xg.77508388C>TCA413703569ATRXc.7442G>A (p.Ser2481Asn)
c.2540G>A (p.Ser847Asn)
c.7328G>A (p.Ser2443Asn)
c.*7070G>A (n.*7070G>A)
n.5762G>A
c.7439G>A (p.Ser2480Asn)
c.7355G>A (p.Ser2452Asn)
c.7325G>A (p.Ser2442Asn)
c.7277G>A (p.Ser2426Asn)
c.7238G>A (p.Ser2413Asn)
c.7163G>A (p.Ser2388Asn)
n.9034G>A
c.7352G>A (p.Ser2451Asn)
c.7322G>A (p.Ser2441Asn)
c.7274G>A (p.Ser2425Asn)
c.7241G>A (p.Ser2414Asn)
c.7211G>A (p.Ser2404Asn)
c.7208G>A (p.Ser2403Asn)
c.7160G>A (p.Ser2387Asn)
c.7124G>A (p.Ser2375Asn)
c.7121G>A (p.Ser2374Asn)
c.7076G>A (p.Ser2359Asn)
n.7741G>A
Xg.77508389T>ACA413703572ATRXc.7441A>T (p.Ser2481Cys)
c.2539A>T (p.Ser847Cys)
c.7327A>T (p.Ser2443Cys)
c.*7069A>T (n.*7069A>T)
n.5761A>T
c.7438A>T (p.Ser2480Cys)
c.7354A>T (p.Ser2452Cys)
c.7324A>T (p.Ser2442Cys)
c.7276A>T (p.Ser2426Cys)
c.7237A>T (p.Ser2413Cys)
c.7162A>T (p.Ser2388Cys)
n.9033A>T
c.7351A>T (p.Ser2451Cys)
c.7321A>T (p.Ser2441Cys)
c.7273A>T (p.Ser2425Cys)
c.7240A>T (p.Ser2414Cys)
c.7210A>T (p.Ser2404Cys)
c.7207A>T (p.Ser2403Cys)
c.7159A>T (p.Ser2387Cys)
c.7123A>T (p.Ser2375Cys)
c.7120A>T (p.Ser2374Cys)
c.7075A>T (p.Ser2359Cys)
n.7740A>T
Xg.77508389T>CCA413703578ATRXc.7441A>G (p.Ser2481Gly)
c.2539A>G (p.Ser847Gly)
c.7327A>G (p.Ser2443Gly)
c.*7069A>G (n.*7069A>G)
n.5761A>G
c.7438A>G (p.Ser2480Gly)
c.7354A>G (p.Ser2452Gly)
c.7324A>G (p.Ser2442Gly)
c.7276A>G (p.Ser2426Gly)
c.7237A>G (p.Ser2413Gly)
c.7162A>G (p.Ser2388Gly)
n.9033A>G
c.7351A>G (p.Ser2451Gly)
c.7321A>G (p.Ser2441Gly)
c.7273A>G (p.Ser2425Gly)
c.7240A>G (p.Ser2414Gly)
c.7210A>G (p.Ser2404Gly)
c.7207A>G (p.Ser2403Gly)
c.7159A>G (p.Ser2387Gly)
c.7123A>G (p.Ser2375Gly)
c.7120A>G (p.Ser2374Gly)
c.7075A>G (p.Ser2359Gly)
n.7740A>G
Xg.77508389T>GCA413703580ATRXc.7441A>C (p.Ser2481Arg)
c.2539A>C (p.Ser847Arg)
c.7327A>C (p.Ser2443Arg)
c.*7069A>C (n.*7069A>C)
n.5761A>C
c.7438A>C (p.Ser2480Arg)
c.7354A>C (p.Ser2452Arg)
c.7324A>C (p.Ser2442Arg)
c.7276A>C (p.Ser2426Arg)
c.7237A>C (p.Ser2413Arg)
c.7162A>C (p.Ser2388Arg)
n.9033A>C
c.7351A>C (p.Ser2451Arg)
c.7321A>C (p.Ser2441Arg)
c.7273A>C (p.Ser2425Arg)
c.7240A>C (p.Ser2414Arg)
c.7210A>C (p.Ser2404Arg)
c.7207A>C (p.Ser2403Arg)
c.7159A>C (p.Ser2387Arg)
c.7123A>C (p.Ser2375Arg)
c.7120A>C (p.Ser2374Arg)
c.7075A>C (p.Ser2359Arg)
n.7740A>C
Xg.77508390T>ACA413703584ATRXc.7440A>T (p.Arg2480Ser)
c.2538A>T (p.Arg846Ser)
c.7326A>T (p.Arg2442Ser)
c.*7068A>T (n.*7068A>T)
n.5760A>T
c.7437A>T (p.Arg2479Ser)
c.7353A>T (p.Arg2451Ser)
c.7323A>T (p.Arg2441Ser)
c.7275A>T (p.Arg2425Ser)
c.7236A>T (p.Arg2412Ser)
c.7161A>T (p.Arg2387Ser)
n.9032A>T
c.7350A>T (p.Arg2450Ser)
c.7320A>T (p.Arg2440Ser)
c.7272A>T (p.Arg2424Ser)
c.7239A>T (p.Arg2413Ser)
c.7209A>T (p.Arg2403Ser)
c.7206A>T (p.Arg2402Ser)
c.7158A>T (p.Arg2386Ser)
c.7122A>T (p.Arg2374Ser)
c.7119A>T (p.Arg2373Ser)
c.7074A>T (p.Arg2358Ser)
n.7739A>T
Xg.77508390T>CCA517373989ATRXc.7440A>G (p.Arg2480=)
c.2538A>G (p.Arg846=)
c.7326A>G (p.Arg2442=)
c.*7068A>G (n.*7068A>G)
n.5760A>G
c.7437A>G (p.Arg2479=)
c.7353A>G (p.Arg2451=)
c.7323A>G (p.Arg2441=)
c.7275A>G (p.Arg2425=)
c.7236A>G (p.Arg2412=)
c.7161A>G (p.Arg2387=)
n.9032A>G
c.7350A>G (p.Arg2450=)
c.7320A>G (p.Arg2440=)
c.7272A>G (p.Arg2424=)
c.7239A>G (p.Arg2413=)
c.7209A>G (p.Arg2403=)
c.7206A>G (p.Arg2402=)
c.7158A>G (p.Arg2386=)
c.7122A>G (p.Arg2374=)
c.7119A>G (p.Arg2373=)
c.7074A>G (p.Arg2358=)
n.7739A>G
Xg.77508390T>GCA413703586ATRXc.7440A>C (p.Arg2480Ser)
c.2538A>C (p.Arg846Ser)
c.7326A>C (p.Arg2442Ser)
c.*7068A>C (n.*7068A>C)
n.5760A>C
c.7437A>C (p.Arg2479Ser)
c.7353A>C (p.Arg2451Ser)
c.7323A>C (p.Arg2441Ser)
c.7275A>C (p.Arg2425Ser)
c.7236A>C (p.Arg2412Ser)
c.7161A>C (p.Arg2387Ser)
n.9032A>C
c.7350A>C (p.Arg2450Ser)
c.7320A>C (p.Arg2440Ser)
c.7272A>C (p.Arg2424Ser)
c.7239A>C (p.Arg2413Ser)
c.7209A>C (p.Arg2403Ser)
c.7206A>C (p.Arg2402Ser)
c.7158A>C (p.Arg2386Ser)
c.7122A>C (p.Arg2374Ser)
c.7119A>C (p.Arg2373Ser)
c.7074A>C (p.Arg2358Ser)
n.7739A>C
Xg.77508391C>ACA413703599ATRXc.7439G>T (p.Arg2480Ile)
c.2537G>T (p.Arg846Ile)
c.7325G>T (p.Arg2442Ile)
c.*7067G>T (n.*7067G>T)
n.5759G>T
c.7436G>T (p.Arg2479Ile)
c.7352G>T (p.Arg2451Ile)
c.7322G>T (p.Arg2441Ile)
c.7274G>T (p.Arg2425Ile)
c.7235G>T (p.Arg2412Ile)
c.7160G>T (p.Arg2387Ile)
n.9031G>T
c.7349G>T (p.Arg2450Ile)
c.7319G>T (p.Arg2440Ile)
c.7271G>T (p.Arg2424Ile)
c.7238G>T (p.Arg2413Ile)
c.7208G>T (p.Arg2403Ile)
c.7205G>T (p.Arg2402Ile)
c.7157G>T (p.Arg2386Ile)
c.7121G>T (p.Arg2374Ile)
c.7118G>T (p.Arg2373Ile)
c.7073G>T (p.Arg2358Ile)
n.7738G>T
Xg.77508391C=CA2438929023ATRXc.7439G= (p.Arg2480=)
c.2537G= (p.Arg846=)
c.7325G= (p.Arg2442=)
c.*7067G= (n.*7067G=)
n.5759G=
c.7436G= (p.Arg2479=)
c.7352G= (p.Arg2451=)
c.7322G= (p.Arg2441=)
c.7274G= (p.Arg2425=)
c.7235G= (p.Arg2412=)
c.7160G= (p.Arg2387=)
n.9031G=
c.7349G= (p.Arg2450=)
c.7319G= (p.Arg2440=)
c.7271G= (p.Arg2424=)
c.7238G= (p.Arg2413=)
c.7208G= (p.Arg2403=)
c.7205G= (p.Arg2402=)
c.7157G= (p.Arg2386=)
c.7121G= (p.Arg2374=)
c.7118G= (p.Arg2373=)
c.7073G= (p.Arg2358=)
n.7738G=
Xg.77508391C>GCA413703596ATRXc.7439G>C (p.Arg2480Thr)
c.2537G>C (p.Arg846Thr)
c.7325G>C (p.Arg2442Thr)
c.*7067G>C (n.*7067G>C)
n.5759G>C
c.7436G>C (p.Arg2479Thr)
c.7352G>C (p.Arg2451Thr)
c.7322G>C (p.Arg2441Thr)
c.7274G>C (p.Arg2425Thr)
c.7235G>C (p.Arg2412Thr)
c.7160G>C (p.Arg2387Thr)
n.9031G>C
c.7349G>C (p.Arg2450Thr)
c.7319G>C (p.Arg2440Thr)
c.7271G>C (p.Arg2424Thr)
c.7238G>C (p.Arg2413Thr)
c.7208G>C (p.Arg2403Thr)
c.7205G>C (p.Arg2402Thr)
c.7157G>C (p.Arg2386Thr)
c.7121G>C (p.Arg2374Thr)
c.7118G>C (p.Arg2373Thr)
c.7073G>C (p.Arg2358Thr)
n.7738G>C
Xg.77508391C>TCA10457375ATRXc.7439G>A (p.Arg2480Lys)
c.2537G>A (p.Arg846Lys)
c.7325G>A (p.Arg2442Lys)
c.*7067G>A (n.*7067G>A)
n.5759G>A
c.7436G>A (p.Arg2479Lys)
c.7352G>A (p.Arg2451Lys)
c.7322G>A (p.Arg2441Lys)
c.7274G>A (p.Arg2425Lys)
c.7235G>A (p.Arg2412Lys)
c.7160G>A (p.Arg2387Lys)
n.9031G>A
c.7349G>A (p.Arg2450Lys)
c.7319G>A (p.Arg2440Lys)
c.7271G>A (p.Arg2424Lys)
c.7238G>A (p.Arg2413Lys)
c.7208G>A (p.Arg2403Lys)
c.7205G>A (p.Arg2402Lys)
c.7157G>A (p.Arg2386Lys)
c.7121G>A (p.Arg2374Lys)
c.7118G>A (p.Arg2373Lys)
c.7073G>A (p.Arg2358Lys)
n.7738G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.77508392T>ACA413703602ATRXc.7438A>T (p.Arg2480Ter)
c.2536A>T (p.Arg846Ter)
c.7324A>T (p.Arg2442Ter)
c.*7066A>T (n.*7066A>T)
n.5758A>T
c.7435A>T (p.Arg2479Ter)
c.7351A>T (p.Arg2451Ter)
c.7321A>T (p.Arg2441Ter)
c.7273A>T (p.Arg2425Ter)
c.7234A>T (p.Arg2412Ter)
c.7159A>T (p.Arg2387Ter)
n.9030A>T
c.7348A>T (p.Arg2450Ter)
c.7318A>T (p.Arg2440Ter)
c.7270A>T (p.Arg2424Ter)
c.7237A>T (p.Arg2413Ter)
c.7207A>T (p.Arg2403Ter)
c.7204A>T (p.Arg2402Ter)
c.7156A>T (p.Arg2386Ter)
c.7120A>T (p.Arg2374Ter)
c.7117A>T (p.Arg2373Ter)
c.7072A>T (p.Arg2358Ter)
n.7737A>T
Xg.77508392T>CCA413703604ATRXc.7438A>G (p.Arg2480Gly)
c.2536A>G (p.Arg846Gly)
c.7324A>G (p.Arg2442Gly)
c.*7066A>G (n.*7066A>G)
n.5758A>G
c.7435A>G (p.Arg2479Gly)
c.7351A>G (p.Arg2451Gly)
c.7321A>G (p.Arg2441Gly)
c.7273A>G (p.Arg2425Gly)
c.7234A>G (p.Arg2412Gly)
c.7159A>G (p.Arg2387Gly)
n.9030A>G
c.7348A>G (p.Arg2450Gly)
c.7318A>G (p.Arg2440Gly)
c.7270A>G (p.Arg2424Gly)
c.7237A>G (p.Arg2413Gly)
c.7207A>G (p.Arg2403Gly)
c.7204A>G (p.Arg2402Gly)
c.7156A>G (p.Arg2386Gly)
c.7120A>G (p.Arg2374Gly)
c.7117A>G (p.Arg2373Gly)
c.7072A>G (p.Arg2358Gly)
n.7737A>G
Xg.77508392T>GCA517373991ATRXc.7438A>C (p.Arg2480=)
c.2536A>C (p.Arg846=)
c.7324A>C (p.Arg2442=)
c.*7066A>C (n.*7066A>C)
n.5758A>C
c.7435A>C (p.Arg2479=)
c.7351A>C (p.Arg2451=)
c.7321A>C (p.Arg2441=)
c.7273A>C (p.Arg2425=)
c.7234A>C (p.Arg2412=)
c.7159A>C (p.Arg2387=)
n.9030A>C
c.7348A>C (p.Arg2450=)
c.7318A>C (p.Arg2440=)
c.7270A>C (p.Arg2424=)
c.7237A>C (p.Arg2413=)
c.7207A>C (p.Arg2403=)
c.7204A>C (p.Arg2402=)
c.7156A>C (p.Arg2386=)
c.7120A>C (p.Arg2374=)
c.7117A>C (p.Arg2373=)
c.7072A>C (p.Arg2358=)
n.7737A>C
Xg.77508393C>ACA413703607ATRXc.7437G>T (p.Met2479Ile)
c.2535G>T (p.Met845Ile)
c.7323G>T (p.Met2441Ile)
c.*7065G>T (n.*7065G>T)
n.5757G>T
c.7434G>T (p.Met2478Ile)
c.7350G>T (p.Met2450Ile)
c.7320G>T (p.Met2440Ile)
c.7272G>T (p.Met2424Ile)
c.7233G>T (p.Met2411Ile)
c.7158G>T (p.Met2386Ile)
n.9029G>T
c.7347G>T (p.Met2449Ile)
c.7317G>T (p.Met2439Ile)
c.7269G>T (p.Met2423Ile)
c.7236G>T (p.Met2412Ile)
c.7206G>T (p.Met2402Ile)
c.7203G>T (p.Met2401Ile)
c.7155G>T (p.Met2385Ile)
c.7119G>T (p.Met2373Ile)
c.7116G>T (p.Met2372Ile)
c.7071G>T (p.Met2357Ile)
n.7736G>T
 dbSNP
Xg.77508393C>GCA413703614ATRXc.7437G>C (p.Met2479Ile)
c.2535G>C (p.Met845Ile)
c.7323G>C (p.Met2441Ile)
c.*7065G>C (n.*7065G>C)
n.5757G>C
c.7434G>C (p.Met2478Ile)
c.7350G>C (p.Met2450Ile)
c.7320G>C (p.Met2440Ile)
c.7272G>C (p.Met2424Ile)
c.7233G>C (p.Met2411Ile)
c.7158G>C (p.Met2386Ile)
n.9029G>C
c.7347G>C (p.Met2449Ile)
c.7317G>C (p.Met2439Ile)
c.7269G>C (p.Met2423Ile)
c.7236G>C (p.Met2412Ile)
c.7206G>C (p.Met2402Ile)
c.7203G>C (p.Met2401Ile)
c.7155G>C (p.Met2385Ile)
c.7119G>C (p.Met2373Ile)
c.7116G>C (p.Met2372Ile)
c.7071G>C (p.Met2357Ile)
n.7736G>C
Xg.77508393C>TCA413703616ATRXc.7437G>A (p.Met2479Ile)
c.2535G>A (p.Met845Ile)
c.7323G>A (p.Met2441Ile)
c.*7065G>A (n.*7065G>A)
n.5757G>A
c.7434G>A (p.Met2478Ile)
c.7350G>A (p.Met2450Ile)
c.7320G>A (p.Met2440Ile)
c.7272G>A (p.Met2424Ile)
c.7233G>A (p.Met2411Ile)
c.7158G>A (p.Met2386Ile)
n.9029G>A
c.7347G>A (p.Met2449Ile)
c.7317G>A (p.Met2439Ile)
c.7269G>A (p.Met2423Ile)
c.7236G>A (p.Met2412Ile)
c.7206G>A (p.Met2402Ile)
c.7203G>A (p.Met2401Ile)
c.7155G>A (p.Met2385Ile)
c.7119G>A (p.Met2373Ile)
c.7116G>A (p.Met2372Ile)
c.7071G>A (p.Met2357Ile)
n.7736G>A
Xg.77508394A>CCA413703622ATRXc.7436T>G (p.Met2479Arg)
c.2534T>G (p.Met845Arg)
c.7322T>G (p.Met2441Arg)
c.*7064T>G (n.*7064T>G)
n.5756T>G
c.7433T>G (p.Met2478Arg)
c.7349T>G (p.Met2450Arg)
c.7319T>G (p.Met2440Arg)
c.7271T>G (p.Met2424Arg)
c.7232T>G (p.Met2411Arg)
c.7157T>G (p.Met2386Arg)
n.9028T>G
c.7346T>G (p.Met2449Arg)
c.7316T>G (p.Met2439Arg)
c.7268T>G (p.Met2423Arg)
c.7235T>G (p.Met2412Arg)
c.7205T>G (p.Met2402Arg)
c.7202T>G (p.Met2401Arg)
c.7154T>G (p.Met2385Arg)
c.7118T>G (p.Met2373Arg)
c.7115T>G (p.Met2372Arg)
c.7070T>G (p.Met2357Arg)
n.7735T>G
Xg.77508394A>GCA413703629ATRXc.7436T>C (p.Met2479Thr)
c.2534T>C (p.Met845Thr)
c.7322T>C (p.Met2441Thr)
c.*7064T>C (n.*7064T>C)
n.5756T>C
c.7433T>C (p.Met2478Thr)
c.7349T>C (p.Met2450Thr)
c.7319T>C (p.Met2440Thr)
c.7271T>C (p.Met2424Thr)
c.7232T>C (p.Met2411Thr)
c.7157T>C (p.Met2386Thr)
n.9028T>C
c.7346T>C (p.Met2449Thr)
c.7316T>C (p.Met2439Thr)
c.7268T>C (p.Met2423Thr)
c.7235T>C (p.Met2412Thr)
c.7205T>C (p.Met2402Thr)
c.7202T>C (p.Met2401Thr)
c.7154T>C (p.Met2385Thr)
c.7118T>C (p.Met2373Thr)
c.7115T>C (p.Met2372Thr)
c.7070T>C (p.Met2357Thr)
n.7735T>C
 ClinVar
Xg.77508394A>TCA413703632ATRXc.7436T>A (p.Met2479Lys)
c.2534T>A (p.Met845Lys)
c.7322T>A (p.Met2441Lys)
c.*7064T>A (n.*7064T>A)
n.5756T>A
c.7433T>A (p.Met2478Lys)
c.7349T>A (p.Met2450Lys)
c.7319T>A (p.Met2440Lys)
c.7271T>A (p.Met2424Lys)
c.7232T>A (p.Met2411Lys)
c.7157T>A (p.Met2386Lys)
n.9028T>A
c.7346T>A (p.Met2449Lys)
c.7316T>A (p.Met2439Lys)
c.7268T>A (p.Met2423Lys)
c.7235T>A (p.Met2412Lys)
c.7205T>A (p.Met2402Lys)
c.7202T>A (p.Met2401Lys)
c.7154T>A (p.Met2385Lys)
c.7118T>A (p.Met2373Lys)
c.7115T>A (p.Met2372Lys)
c.7070T>A (p.Met2357Lys)
n.7735T>A
Xg.77508395T>ACA413703638ATRXc.7435A>T (p.Met2479Leu)
c.2533A>T (p.Met845Leu)
c.7321A>T (p.Met2441Leu)
c.*7063A>T (n.*7063A>T)
n.5755A>T
c.7432A>T (p.Met2478Leu)
c.7348A>T (p.Met2450Leu)
c.7318A>T (p.Met2440Leu)
c.7270A>T (p.Met2424Leu)
c.7231A>T (p.Met2411Leu)
c.7156A>T (p.Met2386Leu)
n.9027A>T
c.7345A>T (p.Met2449Leu)
c.7315A>T (p.Met2439Leu)
c.7267A>T (p.Met2423Leu)
c.7234A>T (p.Met2412Leu)
c.7204A>T (p.Met2402Leu)
c.7201A>T (p.Met2401Leu)
c.7153A>T (p.Met2385Leu)
c.7117A>T (p.Met2373Leu)
c.7114A>T (p.Met2372Leu)
c.7069A>T (p.Met2357Leu)
n.7734A>T
Xg.77508395T>CCA10457376ATRXc.7435A>G (p.Met2479Val)
c.2533A>G (p.Met845Val)
c.7321A>G (p.Met2441Val)
c.*7063A>G (n.*7063A>G)
n.5755A>G
c.7432A>G (p.Met2478Val)
c.7348A>G (p.Met2450Val)
c.7318A>G (p.Met2440Val)
c.7270A>G (p.Met2424Val)
c.7231A>G (p.Met2411Val)
c.7156A>G (p.Met2386Val)
n.9027A>G
c.7345A>G (p.Met2449Val)
c.7315A>G (p.Met2439Val)
c.7267A>G (p.Met2423Val)
c.7234A>G (p.Met2412Val)
c.7204A>G (p.Met2402Val)
c.7201A>G (p.Met2401Val)
c.7153A>G (p.Met2385Val)
c.7117A>G (p.Met2373Val)
c.7114A>G (p.Met2372Val)
c.7069A>G (p.Met2357Val)
n.7734A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.77508395T>GCA413703644ATRXc.7435A>C (p.Met2479Leu)
c.2533A>C (p.Met845Leu)
c.7321A>C (p.Met2441Leu)
c.*7063A>C (n.*7063A>C)
n.5755A>C
c.7432A>C (p.Met2478Leu)
c.7348A>C (p.Met2450Leu)
c.7318A>C (p.Met2440Leu)
c.7270A>C (p.Met2424Leu)
c.7231A>C (p.Met2411Leu)
c.7156A>C (p.Met2386Leu)
n.9027A>C
c.7345A>C (p.Met2449Leu)
c.7315A>C (p.Met2439Leu)
c.7267A>C (p.Met2423Leu)
c.7234A>C (p.Met2412Leu)
c.7204A>C (p.Met2402Leu)
c.7201A>C (p.Met2401Leu)
c.7153A>C (p.Met2385Leu)
c.7117A>C (p.Met2373Leu)
c.7114A>C (p.Met2372Leu)
c.7069A>C (p.Met2357Leu)
n.7734A>C
Xg.77508395T=CA2438929024ATRXc.7435A= (p.Met2479=)
c.2533A= (p.Met845=)
c.7321A= (p.Met2441=)
c.*7063A= (n.*7063A=)
n.5755A=
c.7432A= (p.Met2478=)
c.7348A= (p.Met2450=)
c.7318A= (p.Met2440=)
c.7270A= (p.Met2424=)
c.7231A= (p.Met2411=)
c.7156A= (p.Met2386=)
n.9027A=
c.7345A= (p.Met2449=)
c.7315A= (p.Met2439=)
c.7267A= (p.Met2423=)
c.7234A= (p.Met2412=)
c.7204A= (p.Met2402=)
c.7201A= (p.Met2401=)
c.7153A= (p.Met2385=)
c.7117A= (p.Met2373=)
c.7114A= (p.Met2372=)
c.7069A= (p.Met2357=)
n.7734A=
Xg.77508396T>ACA517373995ATRXc.7434A>T (p.Pro2478=)
c.2532A>T (p.Pro844=)
c.7320A>T (p.Pro2440=)
c.*7062A>T (n.*7062A>T)
n.5754A>T
c.7431A>T (p.Pro2477=)
c.7347A>T (p.Pro2449=)
c.7317A>T (p.Pro2439=)
c.7269A>T (p.Pro2423=)
c.7230A>T (p.Pro2410=)
c.7155A>T (p.Pro2385=)
n.9026A>T
c.7344A>T (p.Pro2448=)
c.7314A>T (p.Pro2438=)
c.7266A>T (p.Pro2422=)
c.7233A>T (p.Pro2411=)
c.7203A>T (p.Pro2401=)
c.7200A>T (p.Pro2400=)
c.7152A>T (p.Pro2384=)
c.7116A>T (p.Pro2372=)
c.7113A>T (p.Pro2371=)
c.7068A>T (p.Pro2356=)
n.7733A>T
Xg.77508396T>CCA517373996ATRXc.7434A>G (p.Pro2478=)
c.2532A>G (p.Pro844=)
c.7320A>G (p.Pro2440=)
c.*7062A>G (n.*7062A>G)
n.5754A>G
c.7431A>G (p.Pro2477=)
c.7347A>G (p.Pro2449=)
c.7317A>G (p.Pro2439=)
c.7269A>G (p.Pro2423=)
c.7230A>G (p.Pro2410=)
c.7155A>G (p.Pro2385=)
n.9026A>G
c.7344A>G (p.Pro2448=)
c.7314A>G (p.Pro2438=)
c.7266A>G (p.Pro2422=)
c.7233A>G (p.Pro2411=)
c.7203A>G (p.Pro2401=)
c.7200A>G (p.Pro2400=)
c.7152A>G (p.Pro2384=)
c.7116A>G (p.Pro2372=)
c.7113A>G (p.Pro2371=)
c.7068A>G (p.Pro2356=)
n.7733A>G
Xg.77508396T>GCA517373997ATRXc.7434A>C (p.Pro2478=)
c.2532A>C (p.Pro844=)
c.7320A>C (p.Pro2440=)
c.*7062A>C (n.*7062A>C)
n.5754A>C
c.7431A>C (p.Pro2477=)
c.7347A>C (p.Pro2449=)
c.7317A>C (p.Pro2439=)
c.7269A>C (p.Pro2423=)
c.7230A>C (p.Pro2410=)
c.7155A>C (p.Pro2385=)
n.9026A>C
c.7344A>C (p.Pro2448=)
c.7314A>C (p.Pro2438=)
c.7266A>C (p.Pro2422=)
c.7233A>C (p.Pro2411=)
c.7203A>C (p.Pro2401=)
c.7200A>C (p.Pro2400=)
c.7152A>C (p.Pro2384=)
c.7116A>C (p.Pro2372=)
c.7113A>C (p.Pro2371=)
c.7068A>C (p.Pro2356=)
n.7733A>C
 dbSNP gnomAD v2
Xg.77508396T=CA2438929025ATRXc.7434A= (p.Pro2478=)
c.2532A= (p.Pro844=)
c.7320A= (p.Pro2440=)
c.*7062A= (n.*7062A=)
n.5754A=
c.7431A= (p.Pro2477=)
c.7347A= (p.Pro2449=)
c.7317A= (p.Pro2439=)
c.7269A= (p.Pro2423=)
c.7230A= (p.Pro2410=)
c.7155A= (p.Pro2385=)
n.9026A=
c.7344A= (p.Pro2448=)
c.7314A= (p.Pro2438=)
c.7266A= (p.Pro2422=)
c.7233A= (p.Pro2411=)
c.7203A= (p.Pro2401=)
c.7200A= (p.Pro2400=)
c.7152A= (p.Pro2384=)
c.7116A= (p.Pro2372=)
c.7113A= (p.Pro2371=)
c.7068A= (p.Pro2356=)
n.7733A=
Xg.77508397G>ACA413703647ATRXc.7433C>T (p.Pro2478Leu)
c.2531C>T (p.Pro844Leu)
c.7319C>T (p.Pro2440Leu)
c.*7061C>T (n.*7061C>T)
n.5753C>T
c.7430C>T (p.Pro2477Leu)
c.7346C>T (p.Pro2449Leu)
c.7316C>T (p.Pro2439Leu)
c.7268C>T (p.Pro2423Leu)
c.7229C>T (p.Pro2410Leu)
c.7154C>T (p.Pro2385Leu)
n.9025C>T
c.7343C>T (p.Pro2448Leu)
c.7313C>T (p.Pro2438Leu)
c.7265C>T (p.Pro2422Leu)
c.7232C>T (p.Pro2411Leu)
c.7202C>T (p.Pro2401Leu)
c.7199C>T (p.Pro2400Leu)
c.7151C>T (p.Pro2384Leu)
c.7115C>T (p.Pro2372Leu)
c.7112C>T (p.Pro2371Leu)
c.7067C>T (p.Pro2356Leu)
n.7732C>T
 dbSNP gnomAD v3 gnomAD v4
Xg.77508397G>CCA413703653ATRXc.7433C>G (p.Pro2478Arg)
c.2531C>G (p.Pro844Arg)
c.7319C>G (p.Pro2440Arg)
c.*7061C>G (n.*7061C>G)
n.5753C>G
c.7430C>G (p.Pro2477Arg)
c.7346C>G (p.Pro2449Arg)
c.7316C>G (p.Pro2439Arg)
c.7268C>G (p.Pro2423Arg)
c.7229C>G (p.Pro2410Arg)
c.7154C>G (p.Pro2385Arg)
n.9025C>G
c.7343C>G (p.Pro2448Arg)
c.7313C>G (p.Pro2438Arg)
c.7265C>G (p.Pro2422Arg)
c.7232C>G (p.Pro2411Arg)
c.7202C>G (p.Pro2401Arg)
c.7199C>G (p.Pro2400Arg)
c.7151C>G (p.Pro2384Arg)
c.7115C>G (p.Pro2372Arg)
c.7112C>G (p.Pro2371Arg)
c.7067C>G (p.Pro2356Arg)
n.7732C>G
Xg.77508397G=CA2438929026ATRXc.7433C= (p.Pro2478=)
c.2531C= (p.Pro844=)
c.7319C= (p.Pro2440=)
c.*7061C= (n.*7061C=)
n.5753C=
c.7430C= (p.Pro2477=)
c.7346C= (p.Pro2449=)
c.7316C= (p.Pro2439=)
c.7268C= (p.Pro2423=)
c.7229C= (p.Pro2410=)
c.7154C= (p.Pro2385=)
n.9025C=
c.7343C= (p.Pro2448=)
c.7313C= (p.Pro2438=)
c.7265C= (p.Pro2422=)
c.7232C= (p.Pro2411=)
c.7202C= (p.Pro2401=)
c.7199C= (p.Pro2400=)
c.7151C= (p.Pro2384=)
c.7115C= (p.Pro2372=)
c.7112C= (p.Pro2371=)
c.7067C= (p.Pro2356=)
n.7732C=
Xg.77508397G>TCA413703656ATRXc.7433C>A (p.Pro2478Gln)
c.2531C>A (p.Pro844Gln)
c.7319C>A (p.Pro2440Gln)
c.*7061C>A (n.*7061C>A)
n.5753C>A
c.7430C>A (p.Pro2477Gln)
c.7346C>A (p.Pro2449Gln)
c.7316C>A (p.Pro2439Gln)
c.7268C>A (p.Pro2423Gln)
c.7229C>A (p.Pro2410Gln)
c.7154C>A (p.Pro2385Gln)
n.9025C>A
c.7343C>A (p.Pro2448Gln)
c.7313C>A (p.Pro2438Gln)
c.7265C>A (p.Pro2422Gln)
c.7232C>A (p.Pro2411Gln)
c.7202C>A (p.Pro2401Gln)
c.7199C>A (p.Pro2400Gln)
c.7151C>A (p.Pro2384Gln)
c.7115C>A (p.Pro2372Gln)
c.7112C>A (p.Pro2371Gln)
c.7067C>A (p.Pro2356Gln)
n.7732C>A
Xg.77508401dupCA2555169002ATRXc.7433dup (p.Met2479AsnfsTer19)
c.2531dup (p.Met845AsnfsTer19)
c.7319dup (p.Met2441AsnfsTer19)
c.*7061dup (n.*7061dup)
n.5753dup
c.7430dup (p.Met2478AsnfsTer19)
c.7346dup (p.Met2450AsnfsTer19)
c.7316dup (p.Met2440AsnfsTer19)
c.7268dup (p.Met2424AsnfsTer19)
c.7229dup (p.Met2411AsnfsTer19)
c.7154dup (p.Met2386AsnfsTer19)
n.9025dup
c.7343dup (p.Met2449AsnfsTer19)
c.7313dup (p.Met2439AsnfsTer19)
c.7265dup (p.Met2423AsnfsTer19)
c.7232dup (p.Met2412AsnfsTer19)
c.7202dup (p.Met2402AsnfsTer19)
c.7199dup (p.Met2401AsnfsTer19)
c.7151dup (p.Met2385AsnfsTer19)
c.7115dup (p.Met2373AsnfsTer19)
c.7112dup (p.Met2372AsnfsTer19)
c.7067dup (p.Met2357AsnfsTer19)
n.7732dup
Xg.77508401delCA2520397795ATRXc.7433del (p.Pro2478GlnfsTer2)
c.2531del (p.Pro844GlnfsTer2)
c.7319del (p.Pro2440GlnfsTer2)
c.*7061del (n.*7061del)
n.5753del
c.7430del (p.Pro2477GlnfsTer2)
c.7346del (p.Pro2449GlnfsTer2)
c.7316del (p.Pro2439GlnfsTer2)
c.7268del (p.Pro2423GlnfsTer2)
c.7229del (p.Pro2410GlnfsTer2)
c.7154del (p.Pro2385GlnfsTer2)
n.9025del
c.7343del (p.Pro2448GlnfsTer2)
c.7313del (p.Pro2438GlnfsTer2)
c.7265del (p.Pro2422GlnfsTer2)
c.7232del (p.Pro2411GlnfsTer2)
c.7202del (p.Pro2401GlnfsTer2)
c.7199del (p.Pro2400GlnfsTer2)
c.7151del (p.Pro2384GlnfsTer2)
c.7115del (p.Pro2372GlnfsTer2)
c.7112del (p.Pro2371GlnfsTer2)
c.7067del (p.Pro2356GlnfsTer2)
n.7732del
 dbSNP
Xg.77508398G>ACA10457378ATRXc.7432C>T (p.Pro2478Ser)
c.2530C>T (p.Pro844Ser)
c.7318C>T (p.Pro2440Ser)
c.*7060C>T (n.*7060C>T)
n.5752C>T
c.7429C>T (p.Pro2477Ser)
c.7345C>T (p.Pro2449Ser)
c.7315C>T (p.Pro2439Ser)
c.7267C>T (p.Pro2423Ser)
c.7228C>T (p.Pro2410Ser)
c.7153C>T (p.Pro2385Ser)
n.9024C>T
c.7342C>T (p.Pro2448Ser)
c.7312C>T (p.Pro2438Ser)
c.7264C>T (p.Pro2422Ser)
c.7231C>T (p.Pro2411Ser)
c.7201C>T (p.Pro2401Ser)
c.7198C>T (p.Pro2400Ser)
c.7150C>T (p.Pro2384Ser)
c.7114C>T (p.Pro2372Ser)
c.7111C>T (p.Pro2371Ser)
c.7066C>T (p.Pro2356Ser)
n.7731C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.77508398G>CCA10457377ATRXc.7432C>G (p.Pro2478Ala)
c.2530C>G (p.Pro844Ala)
c.7318C>G (p.Pro2440Ala)
c.*7060C>G (n.*7060C>G)
n.5752C>G
c.7429C>G (p.Pro2477Ala)
c.7345C>G (p.Pro2449Ala)
c.7315C>G (p.Pro2439Ala)
c.7267C>G (p.Pro2423Ala)
c.7228C>G (p.Pro2410Ala)
c.7153C>G (p.Pro2385Ala)
n.9024C>G
c.7342C>G (p.Pro2448Ala)
c.7312C>G (p.Pro2438Ala)
c.7264C>G (p.Pro2422Ala)
c.7231C>G (p.Pro2411Ala)
c.7201C>G (p.Pro2401Ala)
c.7198C>G (p.Pro2400Ala)
c.7150C>G (p.Pro2384Ala)
c.7114C>G (p.Pro2372Ala)
c.7111C>G (p.Pro2371Ala)
c.7066C>G (p.Pro2356Ala)
n.7731C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.77508398G=CA2438929027ATRXc.7432C= (p.Pro2478=)
c.2530C= (p.Pro844=)
c.7318C= (p.Pro2440=)
c.*7060C= (n.*7060C=)
n.5752C=
c.7429C= (p.Pro2477=)
c.7345C= (p.Pro2449=)
c.7315C= (p.Pro2439=)
c.7267C= (p.Pro2423=)
c.7228C= (p.Pro2410=)
c.7153C= (p.Pro2385=)
n.9024C=
c.7342C= (p.Pro2448=)
c.7312C= (p.Pro2438=)
c.7264C= (p.Pro2422=)
c.7231C= (p.Pro2411=)
c.7201C= (p.Pro2401=)
c.7198C= (p.Pro2400=)
c.7150C= (p.Pro2384=)
c.7114C= (p.Pro2372=)
c.7111C= (p.Pro2371=)
c.7066C= (p.Pro2356=)
n.7731C=
Xg.77508398G>TCA413703661ATRXc.7432C>A (p.Pro2478Thr)
c.2530C>A (p.Pro844Thr)
c.7318C>A (p.Pro2440Thr)
c.*7060C>A (n.*7060C>A)
n.5752C>A
c.7429C>A (p.Pro2477Thr)
c.7345C>A (p.Pro2449Thr)
c.7315C>A (p.Pro2439Thr)
c.7267C>A (p.Pro2423Thr)
c.7228C>A (p.Pro2410Thr)
c.7153C>A (p.Pro2385Thr)
n.9024C>A
c.7342C>A (p.Pro2448Thr)
c.7312C>A (p.Pro2438Thr)
c.7264C>A (p.Pro2422Thr)
c.7231C>A (p.Pro2411Thr)
c.7201C>A (p.Pro2401Thr)
c.7198C>A (p.Pro2400Thr)
c.7150C>A (p.Pro2384Thr)
c.7114C>A (p.Pro2372Thr)
c.7111C>A (p.Pro2371Thr)
c.7066C>A (p.Pro2356Thr)
n.7731C>A
 dbSNP
Xg.77508399G>ACA517374000ATRXc.7431C>T (p.Pro2477=)
c.2529C>T (p.Pro843=)
c.7317C>T (p.Pro2439=)
c.*7059C>T (n.*7059C>T)
n.5751C>T
c.7428C>T (p.Pro2476=)
c.7344C>T (p.Pro2448=)
c.7314C>T (p.Pro2438=)
c.7266C>T (p.Pro2422=)
c.7227C>T (p.Pro2409=)
c.7152C>T (p.Pro2384=)
n.9023C>T
c.7341C>T (p.Pro2447=)
c.7311C>T (p.Pro2437=)
c.7263C>T (p.Pro2421=)
c.7230C>T (p.Pro2410=)
c.7200C>T (p.Pro2400=)
c.7197C>T (p.Pro2399=)
c.7149C>T (p.Pro2383=)
c.7113C>T (p.Pro2371=)
c.7110C>T (p.Pro2370=)
c.7065C>T (p.Pro2355=)
n.7730C>T
 ClinVar
Xg.77508399G>CCA517373999ATRXc.7431C>G (p.Pro2477=)
c.2529C>G (p.Pro843=)
c.7317C>G (p.Pro2439=)
c.*7059C>G (n.*7059C>G)
n.5751C>G
c.7428C>G (p.Pro2476=)
c.7344C>G (p.Pro2448=)
c.7314C>G (p.Pro2438=)
c.7266C>G (p.Pro2422=)
c.7227C>G (p.Pro2409=)
c.7152C>G (p.Pro2384=)
n.9023C>G
c.7341C>G (p.Pro2447=)
c.7311C>G (p.Pro2437=)
c.7263C>G (p.Pro2421=)
c.7230C>G (p.Pro2410=)
c.7200C>G (p.Pro2400=)
c.7197C>G (p.Pro2399=)
c.7149C>G (p.Pro2383=)
c.7113C>G (p.Pro2371=)
c.7110C>G (p.Pro2370=)
c.7065C>G (p.Pro2355=)
n.7730C>G
Xg.77508399G>TCA517374001ATRXc.7431C>A (p.Pro2477=)
c.2529C>A (p.Pro843=)
c.7317C>A (p.Pro2439=)
c.*7059C>A (n.*7059C>A)
n.5751C>A
c.7428C>A (p.Pro2476=)
c.7344C>A (p.Pro2448=)
c.7314C>A (p.Pro2438=)
c.7266C>A (p.Pro2422=)
c.7227C>A (p.Pro2409=)
c.7152C>A (p.Pro2384=)
n.9023C>A
c.7341C>A (p.Pro2447=)
c.7311C>A (p.Pro2437=)
c.7263C>A (p.Pro2421=)
c.7230C>A (p.Pro2410=)
c.7200C>A (p.Pro2400=)
c.7197C>A (p.Pro2399=)
c.7149C>A (p.Pro2383=)
c.7113C>A (p.Pro2371=)
c.7110C>A (p.Pro2370=)
c.7065C>A (p.Pro2355=)
n.7730C>A
Xg.77508400G>ACA413703674ATRXc.7430C>T (p.Pro2477Leu)
c.2528C>T (p.Pro843Leu)
c.7316C>T (p.Pro2439Leu)
c.*7058C>T (n.*7058C>T)
n.5750C>T
c.7427C>T (p.Pro2476Leu)
c.7343C>T (p.Pro2448Leu)
c.7313C>T (p.Pro2438Leu)
c.7265C>T (p.Pro2422Leu)
c.7226C>T (p.Pro2409Leu)
c.7151C>T (p.Pro2384Leu)
n.9022C>T
c.7340C>T (p.Pro2447Leu)
c.7310C>T (p.Pro2437Leu)
c.7262C>T (p.Pro2421Leu)
c.7229C>T (p.Pro2410Leu)
c.7199C>T (p.Pro2400Leu)
c.7196C>T (p.Pro2399Leu)
c.7148C>T (p.Pro2383Leu)
c.7112C>T (p.Pro2371Leu)
c.7109C>T (p.Pro2370Leu)
c.7064C>T (p.Pro2355Leu)
n.7729C>T
Xg.77508400G>CCA413703668ATRXc.7430C>G (p.Pro2477Arg)
c.2528C>G (p.Pro843Arg)
c.7316C>G (p.Pro2439Arg)
c.*7058C>G (n.*7058C>G)
n.5750C>G
c.7427C>G (p.Pro2476Arg)
c.7343C>G (p.Pro2448Arg)
c.7313C>G (p.Pro2438Arg)
c.7265C>G (p.Pro2422Arg)
c.7226C>G (p.Pro2409Arg)
c.7151C>G (p.Pro2384Arg)
n.9022C>G
c.7340C>G (p.Pro2447Arg)
c.7310C>G (p.Pro2437Arg)
c.7262C>G (p.Pro2421Arg)
c.7229C>G (p.Pro2410Arg)
c.7199C>G (p.Pro2400Arg)
c.7196C>G (p.Pro2399Arg)
c.7148C>G (p.Pro2383Arg)
c.7112C>G (p.Pro2371Arg)
c.7109C>G (p.Pro2370Arg)
c.7064C>G (p.Pro2355Arg)
n.7729C>G
Xg.77508400G>TCA413703671ATRXc.7430C>A (p.Pro2477His)
c.2528C>A (p.Pro843His)
c.7316C>A (p.Pro2439His)
c.*7058C>A (n.*7058C>A)
n.5750C>A
c.7427C>A (p.Pro2476His)
c.7343C>A (p.Pro2448His)
c.7313C>A (p.Pro2438His)
c.7265C>A (p.Pro2422His)
c.7226C>A (p.Pro2409His)
c.7151C>A (p.Pro2384His)
n.9022C>A
c.7340C>A (p.Pro2447His)
c.7310C>A (p.Pro2437His)
c.7262C>A (p.Pro2421His)
c.7229C>A (p.Pro2410His)
c.7199C>A (p.Pro2400His)
c.7196C>A (p.Pro2399His)
c.7148C>A (p.Pro2383His)
c.7112C>A (p.Pro2371His)
c.7109C>A (p.Pro2370His)
c.7064C>A (p.Pro2355His)
n.7729C>A
 COSMIC COSMIC
Xg.77508401G>ACA413703683ATRXc.7429C>T (p.Pro2477Ser)
c.2527C>T (p.Pro843Ser)
c.7315C>T (p.Pro2439Ser)
c.*7057C>T (n.*7057C>T)
n.5749C>T
c.7426C>T (p.Pro2476Ser)
c.7342C>T (p.Pro2448Ser)
c.7312C>T (p.Pro2438Ser)
c.7264C>T (p.Pro2422Ser)
c.7225C>T (p.Pro2409Ser)
c.7150C>T (p.Pro2384Ser)
n.9021C>T
c.7339C>T (p.Pro2447Ser)
c.7309C>T (p.Pro2437Ser)
c.7261C>T (p.Pro2421Ser)
c.7228C>T (p.Pro2410Ser)
c.7198C>T (p.Pro2400Ser)
c.7195C>T (p.Pro2399Ser)
c.7147C>T (p.Pro2383Ser)
c.7111C>T (p.Pro2371Ser)
c.7108C>T (p.Pro2370Ser)
c.7063C>T (p.Pro2355Ser)
n.7728C>T
Xg.77508401G>CCA413703686ATRXc.7429C>G (p.Pro2477Ala)
c.2527C>G (p.Pro843Ala)
c.7315C>G (p.Pro2439Ala)
c.*7057C>G (n.*7057C>G)
n.5749C>G
c.7426C>G (p.Pro2476Ala)
c.7342C>G (p.Pro2448Ala)
c.7312C>G (p.Pro2438Ala)
c.7264C>G (p.Pro2422Ala)
c.7225C>G (p.Pro2409Ala)
c.7150C>G (p.Pro2384Ala)
n.9021C>G
c.7339C>G (p.Pro2447Ala)
c.7309C>G (p.Pro2437Ala)
c.7261C>G (p.Pro2421Ala)
c.7228C>G (p.Pro2410Ala)
c.7198C>G (p.Pro2400Ala)
c.7195C>G (p.Pro2399Ala)
c.7147C>G (p.Pro2383Ala)
c.7111C>G (p.Pro2371Ala)
c.7108C>G (p.Pro2370Ala)
c.7063C>G (p.Pro2355Ala)
n.7728C>G
Xg.77508401G=CA2438929028ATRXc.7429C= (p.Pro2477=)
c.2527C= (p.Pro843=)
c.7315C= (p.Pro2439=)
c.*7057C= (n.*7057C=)
n.5749C=
c.7426C= (p.Pro2476=)
c.7342C= (p.Pro2448=)
c.7312C= (p.Pro2438=)
c.7264C= (p.Pro2422=)
c.7225C= (p.Pro2409=)
c.7150C= (p.Pro2384=)
n.9021C=
c.7339C= (p.Pro2447=)
c.7309C= (p.Pro2437=)
c.7261C= (p.Pro2421=)
c.7228C= (p.Pro2410=)
c.7198C= (p.Pro2400=)
c.7195C= (p.Pro2399=)
c.7147C= (p.Pro2383=)
c.7111C= (p.Pro2371=)
c.7108C= (p.Pro2370=)
c.7063C= (p.Pro2355=)
n.7728C=
Xg.77508401G>TCA413703690ATRXc.7429C>A (p.Pro2477Thr)
c.2527C>A (p.Pro843Thr)
c.7315C>A (p.Pro2439Thr)
c.*7057C>A (n.*7057C>A)
n.5749C>A
c.7426C>A (p.Pro2476Thr)
c.7342C>A (p.Pro2448Thr)
c.7312C>A (p.Pro2438Thr)
c.7264C>A (p.Pro2422Thr)
c.7225C>A (p.Pro2409Thr)
c.7150C>A (p.Pro2384Thr)
n.9021C>A
c.7339C>A (p.Pro2447Thr)
c.7309C>A (p.Pro2437Thr)
c.7261C>A (p.Pro2421Thr)
c.7228C>A (p.Pro2410Thr)
c.7198C>A (p.Pro2400Thr)
c.7195C>A (p.Pro2399Thr)
c.7147C>A (p.Pro2383Thr)
c.7111C>A (p.Pro2371Thr)
c.7108C>A (p.Pro2370Thr)
c.7063C>A (p.Pro2355Thr)
n.7728C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.77508402T>ACA517374003ATRXc.7428A>T (p.Pro2476=)
c.2526A>T (p.Pro842=)
c.7314A>T (p.Pro2438=)
c.*7056A>T (n.*7056A>T)
n.5748A>T
c.7425A>T (p.Pro2475=)
c.7341A>T (p.Pro2447=)
c.7311A>T (p.Pro2437=)
c.7263A>T (p.Pro2421=)
c.7224A>T (p.Pro2408=)
c.7149A>T (p.Pro2383=)
n.9020A>T
c.7338A>T (p.Pro2446=)
c.7308A>T (p.Pro2436=)
c.7260A>T (p.Pro2420=)
c.7227A>T (p.Pro2409=)
c.7197A>T (p.Pro2399=)
c.7194A>T (p.Pro2398=)
c.7146A>T (p.Pro2382=)
c.7110A>T (p.Pro2370=)
c.7107A>T (p.Pro2369=)
c.7062A>T (p.Pro2354=)
n.7727A>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.77508402T>CCA517374004ATRXc.7428A>G (p.Pro2476=)
c.2526A>G (p.Pro842=)
c.7314A>G (p.Pro2438=)
c.*7056A>G (n.*7056A>G)
n.5748A>G
c.7425A>G (p.Pro2475=)
c.7341A>G (p.Pro2447=)
c.7311A>G (p.Pro2437=)
c.7263A>G (p.Pro2421=)
c.7224A>G (p.Pro2408=)
c.7149A>G (p.Pro2383=)
n.9020A>G
c.7338A>G (p.Pro2446=)
c.7308A>G (p.Pro2436=)
c.7260A>G (p.Pro2420=)
c.7227A>G (p.Pro2409=)
c.7197A>G (p.Pro2399=)
c.7194A>G (p.Pro2398=)
c.7146A>G (p.Pro2382=)
c.7110A>G (p.Pro2370=)
c.7107A>G (p.Pro2369=)
c.7062A>G (p.Pro2354=)
n.7727A>G
 dbSNP
Xg.77508402T>GCA517374005ATRXc.7428A>C (p.Pro2476=)
c.2526A>C (p.Pro842=)
c.7314A>C (p.Pro2438=)
c.*7056A>C (n.*7056A>C)
n.5748A>C
c.7425A>C (p.Pro2475=)
c.7341A>C (p.Pro2447=)
c.7311A>C (p.Pro2437=)
c.7263A>C (p.Pro2421=)
c.7224A>C (p.Pro2408=)
c.7149A>C (p.Pro2383=)
n.9020A>C
c.7338A>C (p.Pro2446=)
c.7308A>C (p.Pro2436=)
c.7260A>C (p.Pro2420=)
c.7227A>C (p.Pro2409=)
c.7197A>C (p.Pro2399=)
c.7194A>C (p.Pro2398=)
c.7146A>C (p.Pro2382=)
c.7110A>C (p.Pro2370=)
c.7107A>C (p.Pro2369=)
c.7062A>C (p.Pro2354=)
n.7727A>C
Xg.77508402T=CA2438929029ATRXc.7428A= (p.Pro2476=)
c.2526A= (p.Pro842=)
c.7314A= (p.Pro2438=)
c.*7056A= (n.*7056A=)
n.5748A=
c.7425A= (p.Pro2475=)
c.7341A= (p.Pro2447=)
c.7311A= (p.Pro2437=)
c.7263A= (p.Pro2421=)
c.7224A= (p.Pro2408=)
c.7149A= (p.Pro2383=)
n.9020A=
c.7338A= (p.Pro2446=)
c.7308A= (p.Pro2436=)
c.7260A= (p.Pro2420=)
c.7227A= (p.Pro2409=)
c.7197A= (p.Pro2399=)
c.7194A= (p.Pro2398=)
c.7146A= (p.Pro2382=)
c.7110A= (p.Pro2370=)
c.7107A= (p.Pro2369=)
c.7062A= (p.Pro2354=)
n.7727A=
Xg.77508403G>ACA413703701ATRXc.7427C>T (p.Pro2476Leu)
c.2525C>T (p.Pro842Leu)
c.7313C>T (p.Pro2438Leu)
c.*7055C>T (n.*7055C>T)
n.5747C>T
c.7424C>T (p.Pro2475Leu)
c.7340C>T (p.Pro2447Leu)
c.7310C>T (p.Pro2437Leu)
c.7262C>T (p.Pro2421Leu)
c.7223C>T (p.Pro2408Leu)
c.7148C>T (p.Pro2383Leu)
n.9019C>T
c.7337C>T (p.Pro2446Leu)
c.7307C>T (p.Pro2436Leu)
c.7259C>T (p.Pro2420Leu)
c.7226C>T (p.Pro2409Leu)
c.7196C>T (p.Pro2399Leu)
c.7193C>T (p.Pro2398Leu)
c.7145C>T (p.Pro2382Leu)
c.7109C>T (p.Pro2370Leu)
c.7106C>T (p.Pro2369Leu)
c.7061C>T (p.Pro2354Leu)
n.7726C>T
 dbSNP
Xg.77508403G>CCA413703698ATRXc.7427C>G (p.Pro2476Arg)
c.2525C>G (p.Pro842Arg)
c.7313C>G (p.Pro2438Arg)
c.*7055C>G (n.*7055C>G)
n.5747C>G
c.7424C>G (p.Pro2475Arg)
c.7340C>G (p.Pro2447Arg)
c.7310C>G (p.Pro2437Arg)
c.7262C>G (p.Pro2421Arg)
c.7223C>G (p.Pro2408Arg)
c.7148C>G (p.Pro2383Arg)
n.9019C>G
c.7337C>G (p.Pro2446Arg)
c.7307C>G (p.Pro2436Arg)
c.7259C>G (p.Pro2420Arg)
c.7226C>G (p.Pro2409Arg)
c.7196C>G (p.Pro2399Arg)
c.7193C>G (p.Pro2398Arg)
c.7145C>G (p.Pro2382Arg)
c.7109C>G (p.Pro2370Arg)
c.7106C>G (p.Pro2369Arg)
c.7061C>G (p.Pro2354Arg)
n.7726C>G
Xg.77508403G>TCA413703694ATRXc.7427C>A (p.Pro2476Gln)
c.2525C>A (p.Pro842Gln)
c.7313C>A (p.Pro2438Gln)
c.*7055C>A (n.*7055C>A)
n.5747C>A
c.7424C>A (p.Pro2475Gln)
c.7340C>A (p.Pro2447Gln)
c.7310C>A (p.Pro2437Gln)
c.7262C>A (p.Pro2421Gln)
c.7223C>A (p.Pro2408Gln)
c.7148C>A (p.Pro2383Gln)
n.9019C>A
c.7337C>A (p.Pro2446Gln)
c.7307C>A (p.Pro2436Gln)
c.7259C>A (p.Pro2420Gln)
c.7226C>A (p.Pro2409Gln)
c.7196C>A (p.Pro2399Gln)
c.7193C>A (p.Pro2398Gln)
c.7145C>A (p.Pro2382Gln)
c.7109C>A (p.Pro2370Gln)
c.7106C>A (p.Pro2369Gln)
c.7061C>A (p.Pro2354Gln)
n.7726C>A
Xg.77508404G>ACA413703702ATRXc.7426C>T (p.Pro2476Ser)
c.2524C>T (p.Pro842Ser)
c.7312C>T (p.Pro2438Ser)
c.*7054C>T (n.*7054C>T)
n.5746C>T
c.7423C>T (p.Pro2475Ser)
c.7339C>T (p.Pro2447Ser)
c.7309C>T (p.Pro2437Ser)
c.7261C>T (p.Pro2421Ser)
c.7222C>T (p.Pro2408Ser)
c.7147C>T (p.Pro2383Ser)
n.9018C>T
c.7336C>T (p.Pro2446Ser)
c.7306C>T (p.Pro2436Ser)
c.7258C>T (p.Pro2420Ser)
c.7225C>T (p.Pro2409Ser)
c.7195C>T (p.Pro2399Ser)
c.7192C>T (p.Pro2398Ser)
c.7144C>T (p.Pro2382Ser)
c.7108C>T (p.Pro2370Ser)
c.7105C>T (p.Pro2369Ser)
c.7060C>T (p.Pro2354Ser)
n.7725C>T
Xg.77508404G>CCA413703703ATRXc.7426C>G (p.Pro2476Ala)
c.2524C>G (p.Pro842Ala)
c.7312C>G (p.Pro2438Ala)
c.*7054C>G (n.*7054C>G)
n.5746C>G
c.7423C>G (p.Pro2475Ala)
c.7339C>G (p.Pro2447Ala)
c.7309C>G (p.Pro2437Ala)
c.7261C>G (p.Pro2421Ala)
c.7222C>G (p.Pro2408Ala)
c.7147C>G (p.Pro2383Ala)
n.9018C>G
c.7336C>G (p.Pro2446Ala)
c.7306C>G (p.Pro2436Ala)
c.7258C>G (p.Pro2420Ala)
c.7225C>G (p.Pro2409Ala)
c.7195C>G (p.Pro2399Ala)
c.7192C>G (p.Pro2398Ala)
c.7144C>G (p.Pro2382Ala)
c.7108C>G (p.Pro2370Ala)
c.7105C>G (p.Pro2369Ala)
c.7060C>G (p.Pro2354Ala)
n.7725C>G
Xg.77508404G>TCA413703704ATRXc.7426C>A (p.Pro2476Thr)
c.2524C>A (p.Pro842Thr)
c.7312C>A (p.Pro2438Thr)
c.*7054C>A (n.*7054C>A)
n.5746C>A
c.7423C>A (p.Pro2475Thr)
c.7339C>A (p.Pro2447Thr)
c.7309C>A (p.Pro2437Thr)
c.7261C>A (p.Pro2421Thr)
c.7222C>A (p.Pro2408Thr)
c.7147C>A (p.Pro2383Thr)
n.9018C>A
c.7336C>A (p.Pro2446Thr)
c.7306C>A (p.Pro2436Thr)
c.7258C>A (p.Pro2420Thr)
c.7225C>A (p.Pro2409Thr)
c.7195C>A (p.Pro2399Thr)
c.7192C>A (p.Pro2398Thr)
c.7144C>A (p.Pro2382Thr)
c.7108C>A (p.Pro2370Thr)
c.7105C>A (p.Pro2369Thr)
c.7060C>A (p.Pro2354Thr)
n.7725C>A
Xg.77508405T>ACA517374007ATRXc.7425A>T (p.Ala2475=)
c.2523A>T (p.Ala841=)
c.7311A>T (p.Ala2437=)
c.*7053A>T (n.*7053A>T)
n.5745A>T
c.7422A>T (p.Ala2474=)
c.7338A>T (p.Ala2446=)
c.7308A>T (p.Ala2436=)
c.7260A>T (p.Ala2420=)
c.7221A>T (p.Ala2407=)
c.7146A>T (p.Ala2382=)
n.9017A>T
c.7335A>T (p.Ala2445=)
c.7305A>T (p.Ala2435=)
c.7257A>T (p.Ala2419=)
c.7224A>T (p.Ala2408=)
c.7194A>T (p.Ala2398=)
c.7191A>T (p.Ala2397=)
c.7143A>T (p.Ala2381=)
c.7107A>T (p.Ala2369=)
c.7104A>T (p.Ala2368=)
c.7059A>T (p.Ala2353=)
n.7724A>T
Xg.77508405T>CCA331560033ATRXc.7425A>G (p.Ala2475=)
c.2523A>G (p.Ala841=)
c.7311A>G (p.Ala2437=)
c.*7053A>G (n.*7053A>G)
n.5745A>G
c.7422A>G (p.Ala2474=)
c.7338A>G (p.Ala2446=)
c.7308A>G (p.Ala2436=)
c.7260A>G (p.Ala2420=)
c.7221A>G (p.Ala2407=)
c.7146A>G (p.Ala2382=)
n.9017A>G
c.7335A>G (p.Ala2445=)
c.7305A>G (p.Ala2435=)
c.7257A>G (p.Ala2419=)
c.7224A>G (p.Ala2408=)
c.7194A>G (p.Ala2398=)
c.7191A>G (p.Ala2397=)
c.7143A>G (p.Ala2381=)
c.7107A>G (p.Ala2369=)
c.7104A>G (p.Ala2368=)
c.7059A>G (p.Ala2353=)
n.7724A>G
 ClinVar dbSNP
Xg.77508405T>GCA517374008ATRXc.7425A>C (p.Ala2475=)
c.2523A>C (p.Ala841=)
c.7311A>C (p.Ala2437=)
c.*7053A>C (n.*7053A>C)
n.5745A>C
c.7422A>C (p.Ala2474=)
c.7338A>C (p.Ala2446=)
c.7308A>C (p.Ala2436=)
c.7260A>C (p.Ala2420=)
c.7221A>C (p.Ala2407=)
c.7146A>C (p.Ala2382=)
n.9017A>C
c.7335A>C (p.Ala2445=)
c.7305A>C (p.Ala2435=)
c.7257A>C (p.Ala2419=)
c.7224A>C (p.Ala2408=)
c.7194A>C (p.Ala2398=)
c.7191A>C (p.Ala2397=)
c.7143A>C (p.Ala2381=)
c.7107A>C (p.Ala2369=)
c.7104A>C (p.Ala2368=)
c.7059A>C (p.Ala2353=)
n.7724A>C
Xg.77508405T=CA2438929030ATRXc.7425A= (p.Ala2475=)
c.2523A= (p.Ala841=)
c.7311A= (p.Ala2437=)
c.*7053A= (n.*7053A=)
n.5745A=
c.7422A= (p.Ala2474=)
c.7338A= (p.Ala2446=)
c.7308A= (p.Ala2436=)
c.7260A= (p.Ala2420=)
c.7221A= (p.Ala2407=)
c.7146A= (p.Ala2382=)
n.9017A=
c.7335A= (p.Ala2445=)
c.7305A= (p.Ala2435=)
c.7257A= (p.Ala2419=)
c.7224A= (p.Ala2408=)
c.7194A= (p.Ala2398=)
c.7191A= (p.Ala2397=)
c.7143A= (p.Ala2381=)
c.7107A= (p.Ala2369=)
c.7104A= (p.Ala2368=)
c.7059A= (p.Ala2353=)
n.7724A=
Xg.77508406G>ACA413703707ATRXc.7424C>T (p.Ala2475Val)
c.2522C>T (p.Ala841Val)
c.7310C>T (p.Ala2437Val)
c.*7052C>T (n.*7052C>T)
n.5744C>T
c.7421C>T (p.Ala2474Val)
c.7337C>T (p.Ala2446Val)
c.7307C>T (p.Ala2436Val)
c.7259C>T (p.Ala2420Val)
c.7220C>T (p.Ala2407Val)
c.7145C>T (p.Ala2382Val)
n.9016C>T
c.7334C>T (p.Ala2445Val)
c.7304C>T (p.Ala2435Val)
c.7256C>T (p.Ala2419Val)
c.7223C>T (p.Ala2408Val)
c.7193C>T (p.Ala2398Val)
c.7190C>T (p.Ala2397Val)
c.7142C>T (p.Ala2381Val)
c.7106C>T (p.Ala2369Val)
c.7103C>T (p.Ala2368Val)
c.7058C>T (p.Ala2353Val)
n.7723C>T
 dbSNP gnomAD v4
Xg.77508406G>CCA413703710ATRXc.7424C>G (p.Ala2475Gly)
c.2522C>G (p.Ala841Gly)
c.7310C>G (p.Ala2437Gly)
c.*7052C>G (n.*7052C>G)
n.5744C>G
c.7421C>G (p.Ala2474Gly)
c.7337C>G (p.Ala2446Gly)
c.7307C>G (p.Ala2436Gly)
c.7259C>G (p.Ala2420Gly)
c.7220C>G (p.Ala2407Gly)
c.7145C>G (p.Ala2382Gly)
n.9016C>G
c.7334C>G (p.Ala2445Gly)
c.7304C>G (p.Ala2435Gly)
c.7256C>G (p.Ala2419Gly)
c.7223C>G (p.Ala2408Gly)
c.7193C>G (p.Ala2398Gly)
c.7190C>G (p.Ala2397Gly)
c.7142C>G (p.Ala2381Gly)
c.7106C>G (p.Ala2369Gly)
c.7103C>G (p.Ala2368Gly)
c.7058C>G (p.Ala2353Gly)
n.7723C>G
Xg.77508406G>TCA413703712ATRXc.7424C>A (p.Ala2475Glu)
c.2522C>A (p.Ala841Glu)
c.7310C>A (p.Ala2437Glu)
c.*7052C>A (n.*7052C>A)
n.5744C>A
c.7421C>A (p.Ala2474Glu)
c.7337C>A (p.Ala2446Glu)
c.7307C>A (p.Ala2436Glu)
c.7259C>A (p.Ala2420Glu)
c.7220C>A (p.Ala2407Glu)
c.7145C>A (p.Ala2382Glu)
n.9016C>A
c.7334C>A (p.Ala2445Glu)
c.7304C>A (p.Ala2435Glu)
c.7256C>A (p.Ala2419Glu)
c.7223C>A (p.Ala2408Glu)
c.7193C>A (p.Ala2398Glu)
c.7190C>A (p.Ala2397Glu)
c.7142C>A (p.Ala2381Glu)
c.7106C>A (p.Ala2369Glu)
c.7103C>A (p.Ala2368Glu)
c.7058C>A (p.Ala2353Glu)
n.7723C>A
Xg.77508407C>ACA413703717ATRXc.7423G>T (p.Ala2475Ser)
c.2521G>T (p.Ala841Ser)
c.7309G>T (p.Ala2437Ser)
c.*7051G>T (n.*7051G>T)
n.5743G>T
c.7420G>T (p.Ala2474Ser)
c.7336G>T (p.Ala2446Ser)
c.7306G>T (p.Ala2436Ser)
c.7258G>T (p.Ala2420Ser)
c.7219G>T (p.Ala2407Ser)
c.7144G>T (p.Ala2382Ser)
n.9015G>T
c.7333G>T (p.Ala2445Ser)
c.7303G>T (p.Ala2435Ser)
c.7255G>T (p.Ala2419Ser)
c.7222G>T (p.Ala2408Ser)
c.7192G>T (p.Ala2398Ser)
c.7189G>T (p.Ala2397Ser)
c.7141G>T (p.Ala2381Ser)
c.7105G>T (p.Ala2369Ser)
c.7102G>T (p.Ala2368Ser)
c.7057G>T (p.Ala2353Ser)
n.7722G>T
Xg.77508407C=CA2438929031ATRXc.7423G= (p.Ala2475=)
c.2521G= (p.Ala841=)
c.7309G= (p.Ala2437=)
c.*7051G= (n.*7051G=)
n.5743G=
c.7420G= (p.Ala2474=)
c.7336G= (p.Ala2446=)
c.7306G= (p.Ala2436=)
c.7258G= (p.Ala2420=)
c.7219G= (p.Ala2407=)
c.7144G= (p.Ala2382=)
n.9015G=
c.7333G= (p.Ala2445=)
c.7303G= (p.Ala2435=)
c.7255G= (p.Ala2419=)
c.7222G= (p.Ala2408=)
c.7192G= (p.Ala2398=)
c.7189G= (p.Ala2397=)
c.7141G= (p.Ala2381=)
c.7105G= (p.Ala2369=)
c.7102G= (p.Ala2368=)
c.7057G= (p.Ala2353=)
n.7722G=
Xg.77508407C>GCA413703722ATRXc.7423G>C (p.Ala2475Pro)
c.2521G>C (p.Ala841Pro)
c.7309G>C (p.Ala2437Pro)
c.*7051G>C (n.*7051G>C)
n.5743G>C
c.7420G>C (p.Ala2474Pro)
c.7336G>C (p.Ala2446Pro)
c.7306G>C (p.Ala2436Pro)
c.7258G>C (p.Ala2420Pro)
c.7219G>C (p.Ala2407Pro)
c.7144G>C (p.Ala2382Pro)
n.9015G>C
c.7333G>C (p.Ala2445Pro)
c.7303G>C (p.Ala2435Pro)
c.7255G>C (p.Ala2419Pro)
c.7222G>C (p.Ala2408Pro)
c.7192G>C (p.Ala2398Pro)
c.7189G>C (p.Ala2397Pro)
c.7141G>C (p.Ala2381Pro)
c.7105G>C (p.Ala2369Pro)
c.7102G>C (p.Ala2368Pro)
c.7057G>C (p.Ala2353Pro)
n.7722G>C
 dbSNP
Xg.77508407C>TCA413703719ATRXc.7423G>A (p.Ala2475Thr)
c.2521G>A (p.Ala841Thr)
c.7309G>A (p.Ala2437Thr)
c.*7051G>A (n.*7051G>A)
n.5743G>A
c.7420G>A (p.Ala2474Thr)
c.7336G>A (p.Ala2446Thr)
c.7306G>A (p.Ala2436Thr)
c.7258G>A (p.Ala2420Thr)
c.7219G>A (p.Ala2407Thr)
c.7144G>A (p.Ala2382Thr)
n.9015G>A
c.7333G>A (p.Ala2445Thr)
c.7303G>A (p.Ala2435Thr)
c.7255G>A (p.Ala2419Thr)
c.7222G>A (p.Ala2408Thr)
c.7192G>A (p.Ala2398Thr)
c.7189G>A (p.Ala2397Thr)
c.7141G>A (p.Ala2381Thr)
c.7105G>A (p.Ala2369Thr)
c.7102G>A (p.Ala2368Thr)
c.7057G>A (p.Ala2353Thr)
n.7722G>A
 dbSNP
Xg.77508408A>CCA517374010ATRXc.7422T>G (p.Arg2474=)
c.2520T>G (p.Arg840=)
c.7308T>G (p.Arg2436=)
c.*7050T>G (n.*7050T>G)
n.5742T>G
c.7419T>G (p.Arg2473=)
c.7335T>G (p.Arg2445=)
c.7305T>G (p.Arg2435=)
c.7257T>G (p.Arg2419=)
c.7218T>G (p.Arg2406=)
c.7143T>G (p.Arg2381=)
n.9014T>G
c.7332T>G (p.Arg2444=)
c.7302T>G (p.Arg2434=)
c.7254T>G (p.Arg2418=)
c.7221T>G (p.Arg2407=)
c.7191T>G (p.Arg2397=)
c.7188T>G (p.Arg2396=)
c.7140T>G (p.Arg2380=)
c.7104T>G (p.Arg2368=)
c.7101T>G (p.Arg2367=)
c.7056T>G (p.Arg2352=)
n.7721T>G
Xg.77508408A>GCA517374011ATRXc.7422T>C (p.Arg2474=)
c.2520T>C (p.Arg840=)
c.7308T>C (p.Arg2436=)
c.*7050T>C (n.*7050T>C)
n.5742T>C
c.7419T>C (p.Arg2473=)
c.7335T>C (p.Arg2445=)
c.7305T>C (p.Arg2435=)
c.7257T>C (p.Arg2419=)
c.7218T>C (p.Arg2406=)
c.7143T>C (p.Arg2381=)
n.9014T>C
c.7332T>C (p.Arg2444=)
c.7302T>C (p.Arg2434=)
c.7254T>C (p.Arg2418=)
c.7221T>C (p.Arg2407=)
c.7191T>C (p.Arg2397=)
c.7188T>C (p.Arg2396=)
c.7140T>C (p.Arg2380=)
c.7104T>C (p.Arg2368=)
c.7101T>C (p.Arg2367=)
c.7056T>C (p.Arg2352=)
n.7721T>C
 ClinVar
Xg.77508408A>TCA517374012ATRXc.7422T>A (p.Arg2474=)
c.2520T>A (p.Arg840=)
c.7308T>A (p.Arg2436=)
c.*7050T>A (n.*7050T>A)
n.5742T>A
c.7419T>A (p.Arg2473=)
c.7335T>A (p.Arg2445=)
c.7305T>A (p.Arg2435=)
c.7257T>A (p.Arg2419=)
c.7218T>A (p.Arg2406=)
c.7143T>A (p.Arg2381=)
n.9014T>A
c.7332T>A (p.Arg2444=)
c.7302T>A (p.Arg2434=)
c.7254T>A (p.Arg2418=)
c.7221T>A (p.Arg2407=)
c.7191T>A (p.Arg2397=)
c.7188T>A (p.Arg2396=)
c.7140T>A (p.Arg2380=)
c.7104T>A (p.Arg2368=)
c.7101T>A (p.Arg2367=)
c.7056T>A (p.Arg2352=)
n.7721T>A
Xg.77508409C>ACA413703725ATRXc.7421G>T (p.Arg2474Leu)
c.2519G>T (p.Arg840Leu)
c.7307G>T (p.Arg2436Leu)
c.*7049G>T (n.*7049G>T)
n.5741G>T
c.7418G>T (p.Arg2473Leu)
c.7334G>T (p.Arg2445Leu)
c.7304G>T (p.Arg2435Leu)
c.7256G>T (p.Arg2419Leu)
c.7217G>T (p.Arg2406Leu)
c.7142G>T (p.Arg2381Leu)
n.9013G>T
c.7331G>T (p.Arg2444Leu)
c.7301G>T (p.Arg2434Leu)
c.7253G>T (p.Arg2418Leu)
c.7220G>T (p.Arg2407Leu)
c.7190G>T (p.Arg2397Leu)
c.7187G>T (p.Arg2396Leu)
c.7139G>T (p.Arg2380Leu)
c.7103G>T (p.Arg2368Leu)
c.7100G>T (p.Arg2367Leu)
c.7055G>T (p.Arg2352Leu)
n.7720G>T
 gnomAD v4
Xg.77508409C=CA2438929032ATRXc.7421G= (p.Arg2474=)
c.2519G= (p.Arg840=)
c.7307G= (p.Arg2436=)
c.*7049G= (n.*7049G=)
n.5741G=
c.7418G= (p.Arg2473=)
c.7334G= (p.Arg2445=)
c.7304G= (p.Arg2435=)
c.7256G= (p.Arg2419=)
c.7217G= (p.Arg2406=)
c.7142G= (p.Arg2381=)
n.9013G=
c.7331G= (p.Arg2444=)
c.7301G= (p.Arg2434=)
c.7253G= (p.Arg2418=)
c.7220G= (p.Arg2407=)
c.7190G= (p.Arg2397=)
c.7187G= (p.Arg2396=)
c.7139G= (p.Arg2380=)
c.7103G= (p.Arg2368=)
c.7100G= (p.Arg2367=)
c.7055G= (p.Arg2352=)
n.7720G=
Xg.77508409C>GCA413703734ATRXc.7421G>C (p.Arg2474Pro)
c.2519G>C (p.Arg840Pro)
c.7307G>C (p.Arg2436Pro)
c.*7049G>C (n.*7049G>C)
n.5741G>C
c.7418G>C (p.Arg2473Pro)
c.7334G>C (p.Arg2445Pro)
c.7304G>C (p.Arg2435Pro)
c.7256G>C (p.Arg2419Pro)
c.7217G>C (p.Arg2406Pro)
c.7142G>C (p.Arg2381Pro)
n.9013G>C
c.7331G>C (p.Arg2444Pro)
c.7301G>C (p.Arg2434Pro)
c.7253G>C (p.Arg2418Pro)
c.7220G>C (p.Arg2407Pro)
c.7190G>C (p.Arg2397Pro)
c.7187G>C (p.Arg2396Pro)
c.7139G>C (p.Arg2380Pro)
c.7103G>C (p.Arg2368Pro)
c.7100G>C (p.Arg2367Pro)
c.7055G>C (p.Arg2352Pro)
n.7720G>C
Xg.77508409C>TCA10457379ATRXc.7421G>A (p.Arg2474His)
c.2519G>A (p.Arg840His)
c.7307G>A (p.Arg2436His)
c.*7049G>A (n.*7049G>A)
n.5741G>A
c.7418G>A (p.Arg2473His)
c.7334G>A (p.Arg2445His)
c.7304G>A (p.Arg2435His)
c.7256G>A (p.Arg2419His)
c.7217G>A (p.Arg2406His)
c.7142G>A (p.Arg2381His)
n.9013G>A
c.7331G>A (p.Arg2444His)
c.7301G>A (p.Arg2434His)
c.7253G>A (p.Arg2418His)
c.7220G>A (p.Arg2407His)
c.7190G>A (p.Arg2397His)
c.7187G>A (p.Arg2396His)
c.7139G>A (p.Arg2380His)
c.7103G>A (p.Arg2368His)
c.7100G>A (p.Arg2367His)
c.7055G>A (p.Arg2352His)
n.7720G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.77508410G>ACA413703741ATRXc.7420C>T (p.Arg2474Cys)
c.2518C>T (p.Arg840Cys)
c.7306C>T (p.Arg2436Cys)
c.*7048C>T (n.*7048C>T)
n.5740C>T
c.7417C>T (p.Arg2473Cys)
c.7333C>T (p.Arg2445Cys)
c.7303C>T (p.Arg2435Cys)
c.7255C>T (p.Arg2419Cys)
c.7216C>T (p.Arg2406Cys)
c.7141C>T (p.Arg2381Cys)
n.9012C>T
c.7330C>T (p.Arg2444Cys)
c.7300C>T (p.Arg2434Cys)
c.7252C>T (p.Arg2418Cys)
c.7219C>T (p.Arg2407Cys)
c.7189C>T (p.Arg2397Cys)
c.7186C>T (p.Arg2396Cys)
c.7138C>T (p.Arg2380Cys)
c.7102C>T (p.Arg2368Cys)
c.7099C>T (p.Arg2367Cys)
c.7054C>T (p.Arg2352Cys)
n.7719C>T
 dbSNP gnomAD v4 COSMIC COSMIC
Xg.77508410G>CCA413703745ATRXc.7420C>G (p.Arg2474Gly)
c.2518C>G (p.Arg840Gly)
c.7306C>G (p.Arg2436Gly)
c.*7048C>G (n.*7048C>G)
n.5740C>G
c.7417C>G (p.Arg2473Gly)
c.7333C>G (p.Arg2445Gly)
c.7303C>G (p.Arg2435Gly)
c.7255C>G (p.Arg2419Gly)
c.7216C>G (p.Arg2406Gly)
c.7141C>G (p.Arg2381Gly)
n.9012C>G
c.7330C>G (p.Arg2444Gly)
c.7300C>G (p.Arg2434Gly)
c.7252C>G (p.Arg2418Gly)
c.7219C>G (p.Arg2407Gly)
c.7189C>G (p.Arg2397Gly)
c.7186C>G (p.Arg2396Gly)
c.7138C>G (p.Arg2380Gly)
c.7102C>G (p.Arg2368Gly)
c.7099C>G (p.Arg2367Gly)
c.7054C>G (p.Arg2352Gly)
n.7719C>G
Xg.77508410G>TCA413703749ATRXc.7420C>A (p.Arg2474Ser)
c.2518C>A (p.Arg840Ser)
c.7306C>A (p.Arg2436Ser)
c.*7048C>A (n.*7048C>A)
n.5740C>A
c.7417C>A (p.Arg2473Ser)
c.7333C>A (p.Arg2445Ser)
c.7303C>A (p.Arg2435Ser)
c.7255C>A (p.Arg2419Ser)
c.7216C>A (p.Arg2406Ser)
c.7141C>A (p.Arg2381Ser)
n.9012C>A
c.7330C>A (p.Arg2444Ser)
c.7300C>A (p.Arg2434Ser)
c.7252C>A (p.Arg2418Ser)
c.7219C>A (p.Arg2407Ser)
c.7189C>A (p.Arg2397Ser)
c.7186C>A (p.Arg2396Ser)
c.7138C>A (p.Arg2380Ser)
c.7102C>A (p.Arg2368Ser)
c.7099C>A (p.Arg2367Ser)
c.7054C>A (p.Arg2352Ser)
n.7719C>A
Xg.77508411C>ACA413703752ATRXc.7419G>T (p.Gln2473His)
c.2517G>T (p.Gln839His)
c.7305G>T (p.Gln2435His)
c.*7047G>T (n.*7047G>T)
n.5739G>T
c.7416G>T (p.Gln2472His)
c.7332G>T (p.Gln2444His)
c.7302G>T (p.Gln2434His)
c.7254G>T (p.Gln2418His)
c.7215G>T (p.Gln2405His)
c.7140G>T (p.Gln2380His)
n.9011G>T
c.7329G>T (p.Gln2443His)
c.7299G>T (p.Gln2433His)
c.7251G>T (p.Gln2417His)
c.7218G>T (p.Gln2406His)
c.7188G>T (p.Gln2396His)
c.7185G>T (p.Gln2395His)
c.7137G>T (p.Gln2379His)
c.7101G>T (p.Gln2367His)
c.7098G>T (p.Gln2366His)
c.7053G>T (p.Gln2351His)
n.7718G>T
Xg.77508411C>GCA413703755ATRXc.7419G>C (p.Gln2473His)
c.2517G>C (p.Gln839His)
c.7305G>C (p.Gln2435His)
c.*7047G>C (n.*7047G>C)
n.5739G>C
c.7416G>C (p.Gln2472His)
c.7332G>C (p.Gln2444His)
c.7302G>C (p.Gln2434His)
c.7254G>C (p.Gln2418His)
c.7215G>C (p.Gln2405His)
c.7140G>C (p.Gln2380His)
n.9011G>C
c.7329G>C (p.Gln2443His)
c.7299G>C (p.Gln2433His)
c.7251G>C (p.Gln2417His)
c.7218G>C (p.Gln2406His)
c.7188G>C (p.Gln2396His)
c.7185G>C (p.Gln2395His)
c.7137G>C (p.Gln2379His)
c.7101G>C (p.Gln2367His)
c.7098G>C (p.Gln2366His)
c.7053G>C (p.Gln2351His)
n.7718G>C
Xg.77508411C>TCA517374015ATRXc.7419G>A (p.Gln2473=)
c.2517G>A (p.Gln839=)
c.7305G>A (p.Gln2435=)
c.*7047G>A (n.*7047G>A)
n.5739G>A
c.7416G>A (p.Gln2472=)
c.7332G>A (p.Gln2444=)
c.7302G>A (p.Gln2434=)
c.7254G>A (p.Gln2418=)
c.7215G>A (p.Gln2405=)
c.7140G>A (p.Gln2380=)
n.9011G>A
c.7329G>A (p.Gln2443=)
c.7299G>A (p.Gln2433=)
c.7251G>A (p.Gln2417=)
c.7218G>A (p.Gln2406=)
c.7188G>A (p.Gln2396=)
c.7185G>A (p.Gln2395=)
c.7137G>A (p.Gln2379=)
c.7101G>A (p.Gln2367=)
c.7098G>A (p.Gln2366=)
c.7053G>A (p.Gln2351=)
n.7718G>A
Xg.77508412T>ACA413703762ATRXc.7418A>T (p.Gln2473Leu)
c.2516A>T (p.Gln839Leu)
c.7304A>T (p.Gln2435Leu)
c.*7046A>T (n.*7046A>T)
n.5738A>T
c.7415A>T (p.Gln2472Leu)
c.7331A>T (p.Gln2444Leu)
c.7301A>T (p.Gln2434Leu)
c.7253A>T (p.Gln2418Leu)
c.7214A>T (p.Gln2405Leu)
c.7139A>T (p.Gln2380Leu)
n.9010A>T
c.7328A>T (p.Gln2443Leu)
c.7298A>T (p.Gln2433Leu)
c.7250A>T (p.Gln2417Leu)
c.7217A>T (p.Gln2406Leu)
c.7187A>T (p.Gln2396Leu)
c.7184A>T (p.Gln2395Leu)
c.7136A>T (p.Gln2379Leu)
c.7100A>T (p.Gln2367Leu)
c.7097A>T (p.Gln2366Leu)
c.7052A>T (p.Gln2351Leu)
n.7717A>T
Xg.77508412T>CCA413703766ATRXc.7418A>G (p.Gln2473Arg)
c.2516A>G (p.Gln839Arg)
c.7304A>G (p.Gln2435Arg)
c.*7046A>G (n.*7046A>G)
n.5738A>G
c.7415A>G (p.Gln2472Arg)
c.7331A>G (p.Gln2444Arg)
c.7301A>G (p.Gln2434Arg)
c.7253A>G (p.Gln2418Arg)
c.7214A>G (p.Gln2405Arg)
c.7139A>G (p.Gln2380Arg)
n.9010A>G
c.7328A>G (p.Gln2443Arg)
c.7298A>G (p.Gln2433Arg)
c.7250A>G (p.Gln2417Arg)
c.7217A>G (p.Gln2406Arg)
c.7187A>G (p.Gln2396Arg)
c.7184A>G (p.Gln2395Arg)
c.7136A>G (p.Gln2379Arg)
c.7100A>G (p.Gln2367Arg)
c.7097A>G (p.Gln2366Arg)
c.7052A>G (p.Gln2351Arg)
n.7717A>G
Xg.77508412T>GCA413703770ATRXc.7418A>C (p.Gln2473Pro)
c.2516A>C (p.Gln839Pro)
c.7304A>C (p.Gln2435Pro)
c.*7046A>C (n.*7046A>C)
n.5738A>C
c.7415A>C (p.Gln2472Pro)
c.7331A>C (p.Gln2444Pro)
c.7301A>C (p.Gln2434Pro)
c.7253A>C (p.Gln2418Pro)
c.7214A>C (p.Gln2405Pro)
c.7139A>C (p.Gln2380Pro)
n.9010A>C
c.7328A>C (p.Gln2443Pro)
c.7298A>C (p.Gln2433Pro)
c.7250A>C (p.Gln2417Pro)
c.7217A>C (p.Gln2406Pro)
c.7187A>C (p.Gln2396Pro)
c.7184A>C (p.Gln2395Pro)
c.7136A>C (p.Gln2379Pro)
c.7100A>C (p.Gln2367Pro)
c.7097A>C (p.Gln2366Pro)
c.7052A>C (p.Gln2351Pro)
n.7717A>C
Xg.77508413G>ACA413703775ATRXc.7417C>T (p.Gln2473Ter)
c.2515C>T (p.Gln839Ter)
c.7303C>T (p.Gln2435Ter)
c.*7045C>T (n.*7045C>T)
n.5737C>T
c.7414C>T (p.Gln2472Ter)
c.7330C>T (p.Gln2444Ter)
c.7300C>T (p.Gln2434Ter)
c.7252C>T (p.Gln2418Ter)
c.7213C>T (p.Gln2405Ter)
c.7138C>T (p.Gln2380Ter)
n.9009C>T
c.7327C>T (p.Gln2443Ter)
c.7297C>T (p.Gln2433Ter)
c.7249C>T (p.Gln2417Ter)
c.7216C>T (p.Gln2406Ter)
c.7186C>T (p.Gln2396Ter)
c.7183C>T (p.Gln2395Ter)
c.7135C>T (p.Gln2379Ter)
c.7099C>T (p.Gln2367Ter)
c.7096C>T (p.Gln2366Ter)
c.7051C>T (p.Gln2351Ter)
n.7716C>T
 dbSNP
Xg.77508413G>CCA413703774ATRXc.7417C>G (p.Gln2473Glu)
c.2515C>G (p.Gln839Glu)
c.7303C>G (p.Gln2435Glu)
c.*7045C>G (n.*7045C>G)
n.5737C>G
c.7414C>G (p.Gln2472Glu)
c.7330C>G (p.Gln2444Glu)
c.7300C>G (p.Gln2434Glu)
c.7252C>G (p.Gln2418Glu)
c.7213C>G (p.Gln2405Glu)
c.7138C>G (p.Gln2380Glu)
n.9009C>G
c.7327C>G (p.Gln2443Glu)
c.7297C>G (p.Gln2433Glu)
c.7249C>G (p.Gln2417Glu)
c.7216C>G (p.Gln2406Glu)
c.7186C>G (p.Gln2396Glu)
c.7183C>G (p.Gln2395Glu)
c.7135C>G (p.Gln2379Glu)
c.7099C>G (p.Gln2367Glu)
c.7096C>G (p.Gln2366Glu)
c.7051C>G (p.Gln2351Glu)
n.7716C>G
Xg.77508413G>TCA413703773ATRXc.7417C>A (p.Gln2473Lys)
c.2515C>A (p.Gln839Lys)
c.7303C>A (p.Gln2435Lys)
c.*7045C>A (n.*7045C>A)
n.5737C>A
c.7414C>A (p.Gln2472Lys)
c.7330C>A (p.Gln2444Lys)
c.7300C>A (p.Gln2434Lys)
c.7252C>A (p.Gln2418Lys)
c.7213C>A (p.Gln2405Lys)
c.7138C>A (p.Gln2380Lys)
n.9009C>A
c.7327C>A (p.Gln2443Lys)
c.7297C>A (p.Gln2433Lys)
c.7249C>A (p.Gln2417Lys)
c.7216C>A (p.Gln2406Lys)
c.7186C>A (p.Gln2396Lys)
c.7183C>A (p.Gln2395Lys)
c.7135C>A (p.Gln2379Lys)
c.7099C>A (p.Gln2367Lys)
c.7096C>A (p.Gln2366Lys)
c.7051C>A (p.Gln2351Lys)
n.7716C>A
Xg.77508414T>ACA413703778ATRXc.7416A>T (p.Leu2472Phe)
c.2514A>T (p.Leu838Phe)
c.7302A>T (p.Leu2434Phe)
c.*7044A>T (n.*7044A>T)
n.5736A>T
c.7413A>T (p.Leu2471Phe)
c.7329A>T (p.Leu2443Phe)
c.7299A>T (p.Leu2433Phe)
c.7251A>T (p.Leu2417Phe)
c.7212A>T (p.Leu2404Phe)
c.7137A>T (p.Leu2379Phe)
n.9008A>T
c.7326A>T (p.Leu2442Phe)
c.7296A>T (p.Leu2432Phe)
c.7248A>T (p.Leu2416Phe)
c.7215A>T (p.Leu2405Phe)
c.7185A>T (p.Leu2395Phe)
c.7182A>T (p.Leu2394Phe)
c.7134A>T (p.Leu2378Phe)
c.7098A>T (p.Leu2366Phe)
c.7095A>T (p.Leu2365Phe)
c.7050A>T (p.Leu2350Phe)
n.7715A>T
Xg.77508414T>CCA517374019ATRXc.7416A>G (p.Leu2472=)
c.2514A>G (p.Leu838=)
c.7302A>G (p.Leu2434=)
c.*7044A>G (n.*7044A>G)
n.5736A>G
c.7413A>G (p.Leu2471=)
c.7329A>G (p.Leu2443=)
c.7299A>G (p.Leu2433=)
c.7251A>G (p.Leu2417=)
c.7212A>G (p.Leu2404=)
c.7137A>G (p.Leu2379=)
n.9008A>G
c.7326A>G (p.Leu2442=)
c.7296A>G (p.Leu2432=)
c.7248A>G (p.Leu2416=)
c.7215A>G (p.Leu2405=)
c.7185A>G (p.Leu2395=)
c.7182A>G (p.Leu2394=)
c.7134A>G (p.Leu2378=)
c.7098A>G (p.Leu2366=)
c.7095A>G (p.Leu2365=)
c.7050A>G (p.Leu2350=)
n.7715A>G
Xg.77508414T>GCA413703776ATRXc.7416A>C (p.Leu2472Phe)
c.2514A>C (p.Leu838Phe)
c.7302A>C (p.Leu2434Phe)
c.*7044A>C (n.*7044A>C)
n.5736A>C
c.7413A>C (p.Leu2471Phe)
c.7329A>C (p.Leu2443Phe)
c.7299A>C (p.Leu2433Phe)
c.7251A>C (p.Leu2417Phe)
c.7212A>C (p.Leu2404Phe)
c.7137A>C (p.Leu2379Phe)
n.9008A>C
c.7326A>C (p.Leu2442Phe)
c.7296A>C (p.Leu2432Phe)
c.7248A>C (p.Leu2416Phe)
c.7215A>C (p.Leu2405Phe)
c.7185A>C (p.Leu2395Phe)
c.7182A>C (p.Leu2394Phe)
c.7134A>C (p.Leu2378Phe)
c.7098A>C (p.Leu2366Phe)
c.7095A>C (p.Leu2365Phe)
c.7050A>C (p.Leu2350Phe)
n.7715A>C
Xg.77508415A>CCA413703787ATRXc.7415T>G (p.Leu2472Ter)
c.2513T>G (p.Leu838Ter)
c.7301T>G (p.Leu2434Ter)
c.*7043T>G (n.*7043T>G)
n.5735T>G
c.7412T>G (p.Leu2471Ter)
c.7328T>G (p.Leu2443Ter)
c.7298T>G (p.Leu2433Ter)
c.7250T>G (p.Leu2417Ter)
c.7211T>G (p.Leu2404Ter)
c.7136T>G (p.Leu2379Ter)
n.9007T>G
c.7325T>G (p.Leu2442Ter)
c.7295T>G (p.Leu2432Ter)
c.7247T>G (p.Leu2416Ter)
c.7214T>G (p.Leu2405Ter)
c.7184T>G (p.Leu2395Ter)
c.7181T>G (p.Leu2394Ter)
c.7133T>G (p.Leu2378Ter)
c.7097T>G (p.Leu2366Ter)
c.7094T>G (p.Leu2365Ter)
c.7049T>G (p.Leu2350Ter)
n.7714T>G
Xg.77508415A>GCA413703790ATRXc.7415T>C (p.Leu2472Ser)
c.2513T>C (p.Leu838Ser)
c.7301T>C (p.Leu2434Ser)
c.*7043T>C (n.*7043T>C)
n.5735T>C
c.7412T>C (p.Leu2471Ser)
c.7328T>C (p.Leu2443Ser)
c.7298T>C (p.Leu2433Ser)
c.7250T>C (p.Leu2417Ser)
c.7211T>C (p.Leu2404Ser)
c.7136T>C (p.Leu2379Ser)
n.9007T>C
c.7325T>C (p.Leu2442Ser)
c.7295T>C (p.Leu2432Ser)
c.7247T>C (p.Leu2416Ser)
c.7214T>C (p.Leu2405Ser)
c.7184T>C (p.Leu2395Ser)
c.7181T>C (p.Leu2394Ser)
c.7133T>C (p.Leu2378Ser)
c.7097T>C (p.Leu2366Ser)
c.7094T>C (p.Leu2365Ser)
c.7049T>C (p.Leu2350Ser)
n.7714T>C
 gnomAD v4
Xg.77508415A>TCA413703805ATRXc.7415T>A (p.Leu2472Ter)
c.2513T>A (p.Leu838Ter)
c.7301T>A (p.Leu2434Ter)
c.*7043T>A (n.*7043T>A)
n.5735T>A
c.7412T>A (p.Leu2471Ter)
c.7328T>A (p.Leu2443Ter)
c.7298T>A (p.Leu2433Ter)
c.7250T>A (p.Leu2417Ter)
c.7211T>A (p.Leu2404Ter)
c.7136T>A (p.Leu2379Ter)
n.9007T>A
c.7325T>A (p.Leu2442Ter)
c.7295T>A (p.Leu2432Ter)
c.7247T>A (p.Leu2416Ter)
c.7214T>A (p.Leu2405Ter)
c.7184T>A (p.Leu2395Ter)
c.7181T>A (p.Leu2394Ter)
c.7133T>A (p.Leu2378Ter)
c.7097T>A (p.Leu2366Ter)
c.7094T>A (p.Leu2365Ter)
c.7049T>A (p.Leu2350Ter)
n.7714T>A
Xg.77508416A>CCA413703807ATRXc.7414T>G (p.Leu2472Val)
c.2512T>G (p.Leu838Val)
c.7300T>G (p.Leu2434Val)
c.*7042T>G (n.*7042T>G)
n.5734T>G
c.7411T>G (p.Leu2471Val)
c.7327T>G (p.Leu2443Val)
c.7297T>G (p.Leu2433Val)
c.7249T>G (p.Leu2417Val)
c.7210T>G (p.Leu2404Val)
c.7135T>G (p.Leu2379Val)
n.9006T>G
c.7324T>G (p.Leu2442Val)
c.7294T>G (p.Leu2432Val)
c.7246T>G (p.Leu2416Val)
c.7213T>G (p.Leu2405Val)
c.7183T>G (p.Leu2395Val)
c.7180T>G (p.Leu2394Val)
c.7132T>G (p.Leu2378Val)
c.7096T>G (p.Leu2366Val)
c.7093T>G (p.Leu2365Val)
c.7048T>G (p.Leu2350Val)
n.7713T>G
Xg.77508416A>GCA517374021ATRXc.7414T>C (p.Leu2472=)
c.2512T>C (p.Leu838=)
c.7300T>C (p.Leu2434=)
c.*7042T>C (n.*7042T>C)
n.5734T>C
c.7411T>C (p.Leu2471=)
c.7327T>C (p.Leu2443=)
c.7297T>C (p.Leu2433=)
c.7249T>C (p.Leu2417=)
c.7210T>C (p.Leu2404=)
c.7135T>C (p.Leu2379=)
n.9006T>C
c.7324T>C (p.Leu2442=)
c.7294T>C (p.Leu2432=)
c.7246T>C (p.Leu2416=)
c.7213T>C (p.Leu2405=)
c.7183T>C (p.Leu2395=)
c.7180T>C (p.Leu2394=)
c.7132T>C (p.Leu2378=)
c.7096T>C (p.Leu2366=)
c.7093T>C (p.Leu2365=)
c.7048T>C (p.Leu2350=)
n.7713T>C
Xg.77508416A>TCA413703809ATRXc.7414T>A (p.Leu2472Ile)
c.2512T>A (p.Leu838Ile)
c.7300T>A (p.Leu2434Ile)
c.*7042T>A (n.*7042T>A)
n.5734T>A
c.7411T>A (p.Leu2471Ile)
c.7327T>A (p.Leu2443Ile)
c.7297T>A (p.Leu2433Ile)
c.7249T>A (p.Leu2417Ile)
c.7210T>A (p.Leu2404Ile)
c.7135T>A (p.Leu2379Ile)
n.9006T>A
c.7324T>A (p.Leu2442Ile)
c.7294T>A (p.Leu2432Ile)
c.7246T>A (p.Leu2416Ile)
c.7213T>A (p.Leu2405Ile)
c.7183T>A (p.Leu2395Ile)
c.7180T>A (p.Leu2394Ile)
c.7132T>A (p.Leu2378Ile)
c.7096T>A (p.Leu2366Ile)
c.7093T>A (p.Leu2365Ile)
c.7048T>A (p.Leu2350Ile)
n.7713T>A
Xg.77508417T>ACA517374022ATRXc.7413A>T (p.Pro2471=)
c.2511A>T (p.Pro837=)
c.7299A>T (p.Pro2433=)
c.*7041A>T (n.*7041A>T)
n.5733A>T
c.7410A>T (p.Pro2470=)
c.7326A>T (p.Pro2442=)
c.7296A>T (p.Pro2432=)
c.7248A>T (p.Pro2416=)
c.7209A>T (p.Pro2403=)
c.7134A>T (p.Pro2378=)
n.9005A>T
c.7323A>T (p.Pro2441=)
c.7293A>T (p.Pro2431=)
c.7245A>T (p.Pro2415=)
c.7212A>T (p.Pro2404=)
c.7182A>T (p.Pro2394=)
c.7179A>T (p.Pro2393=)
c.7131A>T (p.Pro2377=)
c.7095A>T (p.Pro2365=)
c.7092A>T (p.Pro2364=)
c.7047A>T (p.Pro2349=)
n.7712A>T
Xg.77508417T>CCA517374023ATRXc.7413A>G (p.Pro2471=)
c.2511A>G (p.Pro837=)
c.7299A>G (p.Pro2433=)
c.*7041A>G (n.*7041A>G)
n.5733A>G
c.7410A>G (p.Pro2470=)
c.7326A>G (p.Pro2442=)
c.7296A>G (p.Pro2432=)
c.7248A>G (p.Pro2416=)
c.7209A>G (p.Pro2403=)
c.7134A>G (p.Pro2378=)
n.9005A>G
c.7323A>G (p.Pro2441=)
c.7293A>G (p.Pro2431=)
c.7245A>G (p.Pro2415=)
c.7212A>G (p.Pro2404=)
c.7182A>G (p.Pro2394=)
c.7179A>G (p.Pro2393=)
c.7131A>G (p.Pro2377=)
c.7095A>G (p.Pro2365=)
c.7092A>G (p.Pro2364=)
c.7047A>G (p.Pro2349=)
n.7712A>G
 ClinVar
Xg.77508417T>GCA517374024ATRXc.7413A>C (p.Pro2471=)
c.2511A>C (p.Pro837=)
c.7299A>C (p.Pro2433=)
c.*7041A>C (n.*7041A>C)
n.5733A>C
c.7410A>C (p.Pro2470=)
c.7326A>C (p.Pro2442=)
c.7296A>C (p.Pro2432=)
c.7248A>C (p.Pro2416=)
c.7209A>C (p.Pro2403=)
c.7134A>C (p.Pro2378=)
n.9005A>C
c.7323A>C (p.Pro2441=)
c.7293A>C (p.Pro2431=)
c.7245A>C (p.Pro2415=)
c.7212A>C (p.Pro2404=)
c.7182A>C (p.Pro2394=)
c.7179A>C (p.Pro2393=)
c.7131A>C (p.Pro2377=)
c.7095A>C (p.Pro2365=)
c.7092A>C (p.Pro2364=)
c.7047A>C (p.Pro2349=)
n.7712A>C
Xg.77508418G>ACA413703812ATRXc.7412C>T (p.Pro2471Leu)
c.2510C>T (p.Pro837Leu)
c.7298C>T (p.Pro2433Leu)
c.*7040C>T (n.*7040C>T)
n.5732C>T
c.7409C>T (p.Pro2470Leu)
c.7325C>T (p.Pro2442Leu)
c.7295C>T (p.Pro2432Leu)
c.7247C>T (p.Pro2416Leu)
c.7208C>T (p.Pro2403Leu)
c.7133C>T (p.Pro2378Leu)
n.9004C>T
c.7322C>T (p.Pro2441Leu)
c.7292C>T (p.Pro2431Leu)
c.7244C>T (p.Pro2415Leu)
c.7211C>T (p.Pro2404Leu)
c.7181C>T (p.Pro2394Leu)
c.7178C>T (p.Pro2393Leu)
c.7130C>T (p.Pro2377Leu)
c.7094C>T (p.Pro2365Leu)
c.7091C>T (p.Pro2364Leu)
c.7046C>T (p.Pro2349Leu)
n.7711C>T
 COSMIC COSMIC
Xg.77508418G>CCA413703813ATRXc.7412C>G (p.Pro2471Arg)
c.2510C>G (p.Pro837Arg)
c.7298C>G (p.Pro2433Arg)
c.*7040C>G (n.*7040C>G)
n.5732C>G
c.7409C>G (p.Pro2470Arg)
c.7325C>G (p.Pro2442Arg)
c.7295C>G (p.Pro2432Arg)
c.7247C>G (p.Pro2416Arg)
c.7208C>G (p.Pro2403Arg)
c.7133C>G (p.Pro2378Arg)
n.9004C>G
c.7322C>G (p.Pro2441Arg)
c.7292C>G (p.Pro2431Arg)
c.7244C>G (p.Pro2415Arg)
c.7211C>G (p.Pro2404Arg)
c.7181C>G (p.Pro2394Arg)
c.7178C>G (p.Pro2393Arg)
c.7130C>G (p.Pro2377Arg)
c.7094C>G (p.Pro2365Arg)
c.7091C>G (p.Pro2364Arg)
c.7046C>G (p.Pro2349Arg)
n.7711C>G
Xg.77508418G>TCA413703814ATRXc.7412C>A (p.Pro2471Gln)
c.2510C>A (p.Pro837Gln)
c.7298C>A (p.Pro2433Gln)
c.*7040C>A (n.*7040C>A)
n.5732C>A
c.7409C>A (p.Pro2470Gln)
c.7325C>A (p.Pro2442Gln)
c.7295C>A (p.Pro2432Gln)
c.7247C>A (p.Pro2416Gln)
c.7208C>A (p.Pro2403Gln)
c.7133C>A (p.Pro2378Gln)
n.9004C>A
c.7322C>A (p.Pro2441Gln)
c.7292C>A (p.Pro2431Gln)
c.7244C>A (p.Pro2415Gln)
c.7211C>A (p.Pro2404Gln)
c.7181C>A (p.Pro2394Gln)
c.7178C>A (p.Pro2393Gln)
c.7130C>A (p.Pro2377Gln)
c.7094C>A (p.Pro2365Gln)
c.7091C>A (p.Pro2364Gln)
c.7046C>A (p.Pro2349Gln)
n.7711C>A
 COSMIC COSMIC
Xg.77508419G>ACA413703817ATRXc.7411C>T (p.Pro2471Ser)
c.2509C>T (p.Pro837Ser)
c.7297C>T (p.Pro2433Ser)
c.*7039C>T (n.*7039C>T)
n.5731C>T
c.7408C>T (p.Pro2470Ser)
c.7324C>T (p.Pro2442Ser)
c.7294C>T (p.Pro2432Ser)
c.7246C>T (p.Pro2416Ser)
c.7207C>T (p.Pro2403Ser)
c.7132C>T (p.Pro2378Ser)
n.9003C>T
c.7321C>T (p.Pro2441Ser)
c.7291C>T (p.Pro2431Ser)
c.7243C>T (p.Pro2415Ser)
c.7210C>T (p.Pro2404Ser)
c.7180C>T (p.Pro2394Ser)
c.7177C>T (p.Pro2393Ser)
c.7129C>T (p.Pro2377Ser)
c.7093C>T (p.Pro2365Ser)
c.7090C>T (p.Pro2364Ser)
c.7045C>T (p.Pro2349Ser)
n.7710C>T
 dbSNP
Xg.77508419G>CCA413703819ATRXc.7411C>G (p.Pro2471Ala)
c.2509C>G (p.Pro837Ala)
c.7297C>G (p.Pro2433Ala)
c.*7039C>G (n.*7039C>G)
n.5731C>G
c.7408C>G (p.Pro2470Ala)
c.7324C>G (p.Pro2442Ala)
c.7294C>G (p.Pro2432Ala)
c.7246C>G (p.Pro2416Ala)
c.7207C>G (p.Pro2403Ala)
c.7132C>G (p.Pro2378Ala)
n.9003C>G
c.7321C>G (p.Pro2441Ala)
c.7291C>G (p.Pro2431Ala)
c.7243C>G (p.Pro2415Ala)
c.7210C>G (p.Pro2404Ala)
c.7180C>G (p.Pro2394Ala)
c.7177C>G (p.Pro2393Ala)
c.7129C>G (p.Pro2377Ala)
c.7093C>G (p.Pro2365Ala)
c.7090C>G (p.Pro2364Ala)
c.7045C>G (p.Pro2349Ala)
n.7710C>G
 dbSNP
Xg.77508419G>TCA413703822ATRXc.7411C>A (p.Pro2471Thr)
c.2509C>A (p.Pro837Thr)
c.7297C>A (p.Pro2433Thr)
c.*7039C>A (n.*7039C>A)
n.5731C>A
c.7408C>A (p.Pro2470Thr)
c.7324C>A (p.Pro2442Thr)
c.7294C>A (p.Pro2432Thr)
c.7246C>A (p.Pro2416Thr)
c.7207C>A (p.Pro2403Thr)
c.7132C>A (p.Pro2378Thr)
n.9003C>A
c.7321C>A (p.Pro2441Thr)
c.7291C>A (p.Pro2431Thr)
c.7243C>A (p.Pro2415Thr)
c.7210C>A (p.Pro2404Thr)
c.7180C>A (p.Pro2394Thr)
c.7177C>A (p.Pro2393Thr)
c.7129C>A (p.Pro2377Thr)
c.7093C>A (p.Pro2365Thr)
c.7090C>A (p.Pro2364Thr)
c.7045C>A (p.Pro2349Thr)
n.7710C>A
Xg.77508420T>ACA517374026ATRXc.7410A>T (p.Pro2470=)
c.2508A>T (p.Pro836=)
c.7296A>T (p.Pro2432=)
c.*7038A>T (n.*7038A>T)
n.5730A>T
c.7407A>T (p.Pro2469=)
c.7323A>T (p.Pro2441=)
c.7293A>T (p.Pro2431=)
c.7245A>T (p.Pro2415=)
c.7206A>T (p.Pro2402=)
c.7131A>T (p.Pro2377=)
n.9002A>T
c.7320A>T (p.Pro2440=)
c.7290A>T (p.Pro2430=)
c.7242A>T (p.Pro2414=)
c.7209A>T (p.Pro2403=)
c.7179A>T (p.Pro2393=)
c.7176A>T (p.Pro2392=)
c.7128A>T (p.Pro2376=)
c.7092A>T (p.Pro2364=)
c.7089A>T (p.Pro2363=)
c.7044A>T (p.Pro2348=)
n.7709A>T
Xg.77508420T>CCA517374027ATRXc.7410A>G (p.Pro2470=)
c.2508A>G (p.Pro836=)
c.7296A>G (p.Pro2432=)
c.*7038A>G (n.*7038A>G)
n.5730A>G
c.7407A>G (p.Pro2469=)
c.7323A>G (p.Pro2441=)
c.7293A>G (p.Pro2431=)
c.7245A>G (p.Pro2415=)
c.7206A>G (p.Pro2402=)
c.7131A>G (p.Pro2377=)
n.9002A>G
c.7320A>G (p.Pro2440=)
c.7290A>G (p.Pro2430=)
c.7242A>G (p.Pro2414=)
c.7209A>G (p.Pro2403=)
c.7179A>G (p.Pro2393=)
c.7176A>G (p.Pro2392=)
c.7128A>G (p.Pro2376=)
c.7092A>G (p.Pro2364=)
c.7089A>G (p.Pro2363=)
c.7044A>G (p.Pro2348=)
n.7709A>G
 gnomAD v4
Xg.77508420T>GCA517374025ATRXc.7410A>C (p.Pro2470=)
c.2508A>C (p.Pro836=)
c.7296A>C (p.Pro2432=)
c.*7038A>C (n.*7038A>C)
n.5730A>C
c.7407A>C (p.Pro2469=)
c.7323A>C (p.Pro2441=)
c.7293A>C (p.Pro2431=)
c.7245A>C (p.Pro2415=)
c.7206A>C (p.Pro2402=)
c.7131A>C (p.Pro2377=)
n.9002A>C
c.7320A>C (p.Pro2440=)
c.7290A>C (p.Pro2430=)
c.7242A>C (p.Pro2414=)
c.7209A>C (p.Pro2403=)
c.7179A>C (p.Pro2393=)
c.7176A>C (p.Pro2392=)
c.7128A>C (p.Pro2376=)
c.7092A>C (p.Pro2364=)
c.7089A>C (p.Pro2363=)
c.7044A>C (p.Pro2348=)
n.7709A>C
Xg.77508421G>ACA413703827ATRXc.7409C>T (p.Pro2470Leu)
c.2507C>T (p.Pro836Leu)
c.7295C>T (p.Pro2432Leu)
c.*7037C>T (n.*7037C>T)
n.5729C>T
c.7406C>T (p.Pro2469Leu)
c.7322C>T (p.Pro2441Leu)
c.7292C>T (p.Pro2431Leu)
c.7244C>T (p.Pro2415Leu)
c.7205C>T (p.Pro2402Leu)
c.7130C>T (p.Pro2377Leu)
n.9001C>T
c.7319C>T (p.Pro2440Leu)
c.7289C>T (p.Pro2430Leu)
c.7241C>T (p.Pro2414Leu)
c.7208C>T (p.Pro2403Leu)
c.7178C>T (p.Pro2393Leu)
c.7175C>T (p.Pro2392Leu)
c.7127C>T (p.Pro2376Leu)
c.7091C>T (p.Pro2364Leu)
c.7088C>T (p.Pro2363Leu)
c.7043C>T (p.Pro2348Leu)
n.7708C>T
 dbSNP
Xg.77508421G>CCA413703829ATRXc.7409C>G (p.Pro2470Arg)
c.2507C>G (p.Pro836Arg)
c.7295C>G (p.Pro2432Arg)
c.*7037C>G (n.*7037C>G)
n.5729C>G
c.7406C>G (p.Pro2469Arg)
c.7322C>G (p.Pro2441Arg)
c.7292C>G (p.Pro2431Arg)
c.7244C>G (p.Pro2415Arg)
c.7205C>G (p.Pro2402Arg)
c.7130C>G (p.Pro2377Arg)
n.9001C>G
c.7319C>G (p.Pro2440Arg)
c.7289C>G (p.Pro2430Arg)
c.7241C>G (p.Pro2414Arg)
c.7208C>G (p.Pro2403Arg)
c.7178C>G (p.Pro2393Arg)
c.7175C>G (p.Pro2392Arg)
c.7127C>G (p.Pro2376Arg)
c.7091C>G (p.Pro2364Arg)
c.7088C>G (p.Pro2363Arg)
c.7043C>G (p.Pro2348Arg)
n.7708C>G
Xg.77508421G>TCA413703825ATRXc.7409C>A (p.Pro2470Gln)
c.2507C>A (p.Pro836Gln)
c.7295C>A (p.Pro2432Gln)
c.*7037C>A (n.*7037C>A)
n.5729C>A
c.7406C>A (p.Pro2469Gln)
c.7322C>A (p.Pro2441Gln)
c.7292C>A (p.Pro2431Gln)
c.7244C>A (p.Pro2415Gln)
c.7205C>A (p.Pro2402Gln)
c.7130C>A (p.Pro2377Gln)
n.9001C>A
c.7319C>A (p.Pro2440Gln)
c.7289C>A (p.Pro2430Gln)
c.7241C>A (p.Pro2414Gln)
c.7208C>A (p.Pro2403Gln)
c.7178C>A (p.Pro2393Gln)
c.7175C>A (p.Pro2392Gln)
c.7127C>A (p.Pro2376Gln)
c.7091C>A (p.Pro2364Gln)
c.7088C>A (p.Pro2363Gln)
c.7043C>A (p.Pro2348Gln)
n.7708C>A
Xg.77508422delCA2738724161ATRXc.7409del (p.Pro2470HisfsTer10)
c.2507del (p.Pro836HisfsTer10)
c.7295del (p.Pro2432HisfsTer10)
c.*7037del (n.*7037del)
n.5729del
c.7406del (p.Pro2469HisfsTer10)
c.7322del (p.Pro2441HisfsTer10)
c.7292del (p.Pro2431HisfsTer10)
c.7244del (p.Pro2415HisfsTer10)
c.7205del (p.Pro2402HisfsTer10)
c.7130del (p.Pro2377HisfsTer10)
n.9001del
c.7319del (p.Pro2440HisfsTer10)
c.7289del (p.Pro2430HisfsTer10)
c.7241del (p.Pro2414HisfsTer10)
c.7208del (p.Pro2403HisfsTer10)
c.7178del (p.Pro2393HisfsTer10)
c.7175del (p.Pro2392HisfsTer10)
c.7127del (p.Pro2376HisfsTer10)
c.7091del (p.Pro2364HisfsTer10)
c.7088del (p.Pro2363HisfsTer10)
c.7043del (p.Pro2348HisfsTer10)
n.7708del
 dbSNP
Xg.77508422G>ACA413703835ATRXc.7408C>T (p.Pro2470Ser)
c.2506C>T (p.Pro836Ser)
c.7294C>T (p.Pro2432Ser)
c.*7036C>T (n.*7036C>T)
n.5728C>T
c.7405C>T (p.Pro2469Ser)
c.7321C>T (p.Pro2441Ser)
c.7291C>T (p.Pro2431Ser)
c.7243C>T (p.Pro2415Ser)
c.7204C>T (p.Pro2402Ser)
c.7129C>T (p.Pro2377Ser)
n.9000C>T
c.7318C>T (p.Pro2440Ser)
c.7288C>T (p.Pro2430Ser)
c.7240C>T (p.Pro2414Ser)
c.7207C>T (p.Pro2403Ser)
c.7177C>T (p.Pro2393Ser)
c.7174C>T (p.Pro2392Ser)
c.7126C>T (p.Pro2376Ser)
c.7090C>T (p.Pro2364Ser)
c.7087C>T (p.Pro2363Ser)
c.7042C>T (p.Pro2348Ser)
n.7707C>T
 dbSNP gnomAD v4
Xg.77508422G>CCA413703838ATRXc.7408C>G (p.Pro2470Ala)
c.2506C>G (p.Pro836Ala)
c.7294C>G (p.Pro2432Ala)
c.*7036C>G (n.*7036C>G)
n.5728C>G
c.7405C>G (p.Pro2469Ala)
c.7321C>G (p.Pro2441Ala)
c.7291C>G (p.Pro2431Ala)
c.7243C>G (p.Pro2415Ala)
c.7204C>G (p.Pro2402Ala)
c.7129C>G (p.Pro2377Ala)
n.9000C>G
c.7318C>G (p.Pro2440Ala)
c.7288C>G (p.Pro2430Ala)
c.7240C>G (p.Pro2414Ala)
c.7207C>G (p.Pro2403Ala)
c.7177C>G (p.Pro2393Ala)
c.7174C>G (p.Pro2392Ala)
c.7126C>G (p.Pro2376Ala)
c.7090C>G (p.Pro2364Ala)
c.7087C>G (p.Pro2363Ala)
c.7042C>G (p.Pro2348Ala)
n.7707C>G
Xg.77508422G>TCA413703840ATRXc.7408C>A (p.Pro2470Thr)
c.2506C>A (p.Pro836Thr)
c.7294C>A (p.Pro2432Thr)
c.*7036C>A (n.*7036C>A)
n.5728C>A
c.7405C>A (p.Pro2469Thr)
c.7321C>A (p.Pro2441Thr)
c.7291C>A (p.Pro2431Thr)
c.7243C>A (p.Pro2415Thr)
c.7204C>A (p.Pro2402Thr)
c.7129C>A (p.Pro2377Thr)
n.9000C>A
c.7318C>A (p.Pro2440Thr)
c.7288C>A (p.Pro2430Thr)
c.7240C>A (p.Pro2414Thr)
c.7207C>A (p.Pro2403Thr)
c.7177C>A (p.Pro2393Thr)
c.7174C>A (p.Pro2392Thr)
c.7126C>A (p.Pro2376Thr)
c.7090C>A (p.Pro2364Thr)
c.7087C>A (p.Pro2363Thr)
c.7042C>A (p.Pro2348Thr)
n.7707C>A

Number of alleles fetched