| 20 | g.23637604_23637623dup | CA2652171703 | CST3 | c.243+2_243+21dup
| gnomAD v4 |
| 20 | g.23637607_23637630dup | CA2652171715 | CST3 | c.239_243+19dup
| gnomAD v4 |
| 20 | g.23637604G>A | CA2652171729 | CST3 | c.243+16C>T (n.243+16C>T)
| gnomAD v4 |
| 20 | g.23637604G>C | CA635266182 | CST3 | c.243+16C>G (n.243+16C>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23637604G= | CA2355967026 | CST3 | c.243+16C= (n.243+16C=)
| |
| 20 | g.23637604G>T | CA2355967027 | CST3 | c.243+16C>A (n.243+16C>A)
| dbSNP gnomAD v4 |
| 20 | g.23637609dup | CA635266181 | CST3 | c.243+16dup (n.243+16dup)
| gnomAD v2 gnomAD v4 |
| 20 | g.23637609del | CA2652171728 | CST3 | c.243+16del (n.243+16del)
| gnomAD v4 |
| 20 | g.23637605G>A | CA1016245509 | CST3 | c.243+15C>T (n.243+15C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23637605G>C | CA9790237 | CST3 | c.243+15C>G (n.243+15C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23637605G= | CA2355967028 | CST3 | c.243+15C= (n.243+15C=)
| |
| 20 | g.23637605G>T | CA635266183 | CST3 | c.243+15C>A (n.243+15C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23637606G>A | CA2652171733 | CST3 | c.243+14C>T (n.243+14C>T)
| gnomAD v4 |
| 20 | g.23637606G>T | CA2652171734 | CST3 | c.243+14C>A (n.243+14C>A)
| gnomAD v4 |
| 20 | g.23637607G>A | CA635266184 | CST3 | c.243+13C>T (n.243+13C>T)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23637607G>C | CA2577354804 | CST3 | c.243+13C>G (n.243+13C>G)
| |
| 20 | g.23637607G= | CA2355967029 | CST3 | c.243+13C= (n.243+13C=)
| |
| 20 | g.23637607G>T | CA313615272 | CST3 | c.243+13C>A (n.243+13C>A)
| dbSNP gnomAD v4 |
| 20 | g.23637608G>A | CA2652171737 | CST3 | c.243+12C>T (n.243+12C>T)
| gnomAD v4 |
| 20 | g.23637608G= | CA2355967030 | CST3 | c.243+12C= (n.243+12C=)
| |
| 20 | g.23637608G>T | CA9790238 | CST3 | c.243+12C>A (n.243+12C>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.23637609G>A | CA9790239 | CST3 | c.243+11C>T (n.243+11C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23637609G>C | CA2652171740 | CST3 | c.243+11C>G (n.243+11C>G)
| gnomAD v4 |
| 20 | g.23637609G= | CA2355967031 | CST3 | c.243+11C= (n.243+11C=)
| |
| 20 | g.23637609G>T | CA2355967032 | CST3 | c.243+11C>A (n.243+11C>A)
| dbSNP gnomAD v4 |
| 20 | g.23637610C>A | CA2355967035 | CST3 | c.243+10G>T (n.243+10G>T)
| dbSNP gnomAD v4 |
| 20 | g.23637610C= | CA2355967034 | CST3 | c.243+10G= (n.243+10G=)
| |
| 20 | g.23637610C>T | CA2577354805 | CST3 | c.243+10G>A (n.243+10G>A)
| gnomAD v4 |
| 20 | g.23637610_23637628delinsCGGCACGCACCTGCTTGCG | CA2355967033 | CST3 | c.235_243+10delinsCGCAAGCAGGTGCGTGCCG
| |
| 20 | g.23637611G>A | CA635266185 | CST3 | c.243+9C>T (n.243+9C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23637611G= | CA2355967036 | CST3 | c.243+9C= (n.243+9C=)
| |
| 20 | g.23637611G>T | CA2652171744 | CST3 | c.243+9C>A (n.243+9C>A)
| gnomAD v4 |
| 20 | g.23637614_23637631del | CA742282962 | CST3 | c.235_243+9del
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23637612G>A | CA313615288 | CST3 | c.243+8C>T (n.243+8C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23637612G>C | CA2652171745 | CST3 | c.243+8C>G (n.243+8C>G)
| gnomAD v4 |
| 20 | g.23637612G= | CA2355967037 | CST3 | c.243+8C= (n.243+8C=)
| |
| 20 | g.23637612G>T | CA2652171746 | CST3 | c.243+8C>A (n.243+8C>A)
| gnomAD v4 |
| 20 | g.23637613C>A | CA2552344482 | CST3 | c.243+7G>T (n.243+7G>T)
| gnomAD v4 |
| 20 | g.23637613C>T | CA2652171748 | CST3 | c.243+7G>A (n.243+7G>A)
| gnomAD v4 |
| 20 | g.23637614A= | CA2355967038 | CST3 | c.243+6T= (n.243+6T=)
| |
| 20 | g.23637614A>G | CA2355967039 | CST3 | c.243+6T>C (n.243+6T>C)
| dbSNP |
| 20 | g.23637615C>A | CA2652171749 | CST3 | c.243+5G>T (n.243+5G>T)
| gnomAD v4 |
| 20 | g.23637615C= | CA2355967040 | CST3 | c.243+5G= (n.243+5G=)
| |
| 20 | g.23637615C>G | CA635266186 | CST3 | c.243+5G>C (n.243+5G>C)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23637615C>T | CA2652171750 | CST3 | c.243+5G>A (n.243+5G>A)
| gnomAD v4 |
| 20 | g.23637616G>A | CA2652171751 | CST3 | c.243+4C>T (n.243+4C>T)
| gnomAD v4 |
| 20 | g.23637616_23637617delinsGC | CA2355967041 | CST3 | c.243+3_243+4delinsGC (n.243+3_243+4delinsGC)
| |
| 20 | g.23637616_23637637delinsGCACCTGCTTGCGGGCGCGCAC | CA2355967042 | CST3 | c.226_243+4delinsGTGCGCGCCCGCAAGCAGGTGC
| |
| 20 | g.23637617del | CA313615291 | CST3 | c.243+3del (n.243+3del)
| dbSNP |
| 20 | g.23637617C>A | CA2652171752 | CST3 | c.243+3G>T (n.243+3G>T)
| gnomAD v4 |
| 20 | g.23637617C= | CA2355967043 | CST3 | c.243+3G= (n.243+3G=)
| |
| 20 | g.23637617C>G | CA313615295 | CST3 | c.243+3G>C (n.243+3G>C)
| dbSNP |
| 20 | g.23637617C>T | CA2652171753 | CST3 | c.243+3G>A (n.243+3G>A)
| gnomAD v4 |
| 20 | g.23637624_23637644del | CA635266187 | CST3 | c.226_243+3del
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23637618A>C | CA408424033 | CST3 | c.243+2T>G (n.243+2T>G)
| |
| 20 | g.23637618A>G | CA408424031 | CST3 | c.243+2T>C (n.243+2T>C)
| gnomAD v4 |
| 20 | g.23637618A>T | CA408424032 | CST3 | c.243+2T>A (n.243+2T>A)
| |
| 20 | g.23637619C>A | CA408424034 | CST3 | c.243+1G>T (n.243+1G>T)
| gnomAD v4 |
| 20 | g.23637619C= | CA2355967044 | CST3 | c.243+1G= (n.243+1G=)
| |
| 20 | g.23637619C>G | CA408424035 | CST3 | c.243+1G>C (n.243+1G>C)
| |
| 20 | g.23637619C>T | CA313615297 | CST3 | c.243+1G>A (n.243+1G>A)
| dbSNP gnomAD v4 |
| 20 | g.23637620C>A | CA408424036 | CST3 | c.243G>T (p.Gln81His)
| gnomAD v4 |
| 20 | g.23637620C>G | CA408424037 | CST3 | c.243G>C (p.Gln81His)
| |
| 20 | g.23637620C>T | CA510163439 | CST3 | c.243G>A (p.Gln81=)
| |
| 20 | g.23637620_23637629delinsCTGCTTGCGG | CA2355967045 | CST3 | c.234_243delinsCCGCAAGCAG (p.Ala78=)
| |
| 20 | g.23637621T>A | CA408424038 | CST3 | c.242A>T (p.Gln81Leu)
| |
| 20 | g.23637621T>C | CA408424039 | CST3 | c.242A>G (p.Gln81Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23637621T>G | CA408424040 | CST3 | c.242A>C (p.Gln81Pro)
| |
| 20 | g.23637621T= | CA2355967046 | CST3 | c.242A= (p.Gln81=)
| |
| 20 | g.23637621_23637629del | CA510163440 | CST3 | c.234_242del (p.Arg79_Gln81del)
| dbSNP |
| 20 | g.23637622G>A | CA408424041 | CST3 | c.241C>T (p.Gln81Ter)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23637622G>C | CA408424042 | CST3 | c.241C>G (p.Gln81Glu)
| gnomAD v4 |
| 20 | g.23637622G= | CA2355967047 | CST3 | c.241C= (p.Gln81=)
| |
| 20 | g.23637622G>T | CA408424043 | CST3 | c.241C>A (p.Gln81Lys)
| gnomAD v4 |
| 20 | g.23637623C>A | CA408424045 | CST3 | c.240G>T (p.Lys80Asn)
| gnomAD v4 |
| 20 | g.23637623C= | CA2355967048 | CST3 | c.240G= (p.Lys80=)
| |
| 20 | g.23637623C>G | CA408424044 | CST3 | c.240G>C (p.Lys80Asn)
| |
| 20 | g.23637623C>T | CA9790240 | CST3 | c.240G>A (p.Lys80=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.23637624T>A | CA408424046 | CST3 | c.239A>T (p.Lys80Met)
| |
| 20 | g.23637624T>C | CA408424048 | CST3 | c.239A>G (p.Lys80Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23637624T>G | CA408424047 | CST3 | c.239A>C (p.Lys80Thr)
| |
| 20 | g.23637624T= | CA2355967049 | CST3 | c.239A= (p.Lys80=)
| |
| 20 | g.23637625T>A | CA408424049 | CST3 | c.238A>T (p.Lys80Ter)
| gnomAD v4 |
| 20 | g.23637625T>C | CA408424051 | CST3 | c.238A>G (p.Lys80Glu)
| dbSNP gnomAD v4 |
| 20 | g.23637625T>G | CA408424050 | CST3 | c.238A>C (p.Lys80Gln)
| gnomAD v4 |
| 20 | g.23637625T= | CA2355967050 | CST3 | c.238A= (p.Lys80=)
| |
| 20 | g.23637626G>A | CA510163441 | CST3 | c.237C>T (p.Arg79=)
| gnomAD v4 |
| 20 | g.23637626G>C | CA510163442 | CST3 | c.237C>G (p.Arg79=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23637626G= | CA2355967051 | CST3 | c.237C= (p.Arg79=)
| |
| 20 | g.23637626G>T | CA510163443 | CST3 | c.237C>A (p.Arg79=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23637627C>A | CA408424052 | CST3 | c.236G>T (p.Arg79Leu)
| dbSNP gnomAD v4 |
| 20 | g.23637627C>G | CA408424053 | CST3 | c.236G>C (p.Arg79Pro)
| |
| 20 | g.23637627C>T | CA408424054 | CST3 | c.236G>A (p.Arg79His)
| gnomAD v4 |
| 20 | g.23637628G>A | CA408424055 | CST3 | c.235C>T (p.Arg79Cys)
| dbSNP gnomAD v4 |
| 20 | g.23637628G>C | CA408424056 | CST3 | c.235C>G (p.Arg79Gly)
| |
| 20 | g.23637628G= | CA2355967052 | CST3 | c.235C= (p.Arg79=)
| |
| 20 | g.23637628G>T | CA9790241 | CST3 | c.235C>A (p.Arg79Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23637629G>A | CA510163444 | CST3 | c.234C>T (p.Ala78=)
| gnomAD v4 COSMIC |
| 20 | g.23637629G>C | CA510163445 | CST3 | c.234C>G (p.Ala78=)
| |
| 20 | g.23637629G>T | CA510163446 | CST3 | c.234C>A (p.Ala78=)
| gnomAD v4 |
| 20 | g.23637630G>A | CA408424057 | CST3 | c.233C>T (p.Ala78Val)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23637630G>C | CA408424058 | CST3 | c.233C>G (p.Ala78Gly)
| |
| 20 | g.23637630G= | CA2355967053 | CST3 | c.233C= (p.Ala78=)
| |
| 20 | g.23637630G>T | CA408424059 | CST3 | c.233C>A (p.Ala78Asp)
| gnomAD v4 |
| 20 | g.23637631C>A | CA408424060 | CST3 | c.232G>T (p.Ala78Ser)
| gnomAD v4 |
| 20 | g.23637631C= | CA2355967054 | CST3 | c.232G= (p.Ala78=)
| |
| 20 | g.23637631C>G | CA408424061 | CST3 | c.232G>C (p.Ala78Pro)
| |
| 20 | g.23637631C>T | CA408424062 | CST3 | c.232G>A (p.Ala78Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23637632G>A | CA510163447 | CST3 | c.231C>T (p.Arg77=)
| gnomAD v4 |
| 20 | g.23637632G>C | CA510163449 | CST3 | c.231C>G (p.Arg77=)
| |
| 20 | g.23637632G>T | CA510163448 | CST3 | c.231C>A (p.Arg77=)
| gnomAD v4 |
| 20 | g.23637633C>A | CA408424063 | CST3 | c.230G>T (p.Arg77Leu)
| gnomAD v4 |
| 20 | g.23637633C>G | CA408424065 | CST3 | c.230G>C (p.Arg77Pro)
| |
| 20 | g.23637633C>T | CA408424064 | CST3 | c.230G>A (p.Arg77His)
| gnomAD v4 |
| 20 | g.23637634G>A | CA408424066 | CST3 | c.229C>T (p.Arg77Cys)
| gnomAD v4 |
| 20 | g.23637634G>C | CA408424067 | CST3 | c.229C>G (p.Arg77Gly)
| |
| 20 | g.23637634G>T | CA408424068 | CST3 | c.229C>A (p.Arg77Ser)
| gnomAD v4 |
| 20 | g.23637635C>A | CA510163450 | CST3 | c.228G>T (p.Val76=)
| gnomAD v4 |
| 20 | g.23637635C>G | CA510163451 | CST3 | c.228G>C (p.Val76=)
| |
| 20 | g.23637635C>T | CA510163452 | CST3 | c.228G>A (p.Val76=)
| gnomAD v4 |
| 20 | g.23637636del | CA2652171754 | CST3 | c.227del (p.Val76GlyfsTer8)
| gnomAD v4 |
| 20 | g.23637636A>C | CA408424069 | CST3 | c.227T>G (p.Val76Gly)
| |
| 20 | g.23637636A>G | CA408424070 | CST3 | c.227T>C (p.Val76Ala)
| gnomAD v4 |
| 20 | g.23637636A>T | CA408424071 | CST3 | c.227T>A (p.Val76Glu)
| gnomAD v4 |
| 20 | g.23637636_23637637insGGGGC | CA2815583488 | CST3 | c.226_227insGCCCC (p.Val76GlyfsTer10)
| |
| 20 | g.23637637C>A | CA408424072 | CST3 | c.226G>T (p.Val76Leu)
| gnomAD v4 |
| 20 | g.23637637C= | CA2355967055 | CST3 | c.226G= (p.Val76=)
| |
| 20 | g.23637637C>G | CA408424073 | CST3 | c.226G>C (p.Val76Leu)
| |
| 20 | g.23637637C>T | CA408424074 | CST3 | c.226G>A (p.Val76Met)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23637638C>A | CA510163453 | CST3 | c.225G>T (p.Val75=)
| gnomAD v4 |
| 20 | g.23637638C= | CA2355967056 | CST3 | c.225G= (p.Val75=)
| |
| 20 | g.23637638C>G | CA510163454 | CST3 | c.225G>C (p.Val75=)
| |
| 20 | g.23637638C>T | CA510163455 | CST3 | c.225G>A (p.Val75=)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23637639_23637640del | CA2652171755 | CST3 | c.224_225del (p.Val75GlyfsTer?)
| gnomAD v4 |
| 20 | g.23637639A= | CA2355967057 | CST3 | c.224T= (p.Val75=)
| |
| 20 | g.23637639A>C | CA408424076 | CST3 | c.224T>G (p.Val75Gly)
| |
| 20 | g.23637639A>G | CA9790242 | CST3 | c.224T>C (p.Val75Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.23637639A>T | CA408424075 | CST3 | c.224T>A (p.Val75Glu)
| gnomAD v4 |
| 20 | g.23637640C>A | CA408424077 | CST3 | c.223G>T (p.Val75Leu)
| gnomAD v4 |
| 20 | g.23637640C= | CA2355967058 | CST3 | c.223G= (p.Val75=)
| |
| 20 | g.23637640C>G | CA408424078 | CST3 | c.223G>C (p.Val75Leu)
| |
| 20 | g.23637640C>T | CA9790243 | CST3 | c.223G>A (p.Val75Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23637641C>A | CA408424079 | CST3 | c.222G>T (p.Gln74His)
| gnomAD v4 |
| 20 | g.23637641C>G | CA408424080 | CST3 | c.222G>C (p.Gln74His)
| |
| 20 | g.23637641C>T | CA510163456 | CST3 | c.222G>A (p.Gln74=)
| gnomAD v4 |
| 20 | g.23637642T>A | CA408424081 | CST3 | c.221A>T (p.Gln74Leu)
| dbSNP gnomAD v4 |
| 20 | g.23637642T>C | CA408424082 | CST3 | c.221A>G (p.Gln74Arg)
| dbSNP gnomAD v4 |
| 20 | g.23637642T>G | CA408424083 | CST3 | c.221A>C (p.Gln74Pro)
| |
| 20 | g.23637642T= | CA2355967059 | CST3 | c.221A= (p.Gln74=)
| |
| 20 | g.23637643G>A | CA408424084 | CST3 | c.220C>T (p.Gln74Ter)
| gnomAD v4 |
| 20 | g.23637643G>C | CA408424085 | CST3 | c.220C>G (p.Gln74Glu)
| |
| 20 | g.23637643G>T | CA408424086 | CST3 | c.220C>A (p.Gln74Lys)
| |
| 20 | g.23637644C>A | CA510163457 | CST3 | c.219G>T (p.Leu73=)
| gnomAD v4 |
| 20 | g.23637644C= | CA2355967060 | CST3 | c.219G= (p.Leu73=)
| |
| 20 | g.23637644C>G | CA510163458 | CST3 | c.219G>C (p.Leu73=)
| |
| 20 | g.23637644C>T | CA9790244 | CST3 | c.219G>A (p.Leu73=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23637645A>C | CA408424089 | CST3 | c.218T>G (p.Leu73Arg)
| |
| 20 | g.23637645A>G | CA408424087 | CST3 | c.218T>C (p.Leu73Pro)
| gnomAD v4 |
| 20 | g.23637645A>T | CA408424088 | CST3 | c.218T>A (p.Leu73Gln)
| |
| 20 | g.23637646G>A | CA313615316 | CST3 | c.217C>T (p.Leu73=)
| dbSNP gnomAD v4 |
| 20 | g.23637646G>C | CA408424090 | CST3 | c.217C>G (p.Leu73Val)
| dbSNP |
| 20 | g.23637646G= | CA2355967061 | CST3 | c.217C= (p.Leu73=)
| |
| 20 | g.23637646G>T | CA408424091 | CST3 | c.217C>A (p.Leu73Met)
| gnomAD v4 |
| 20 | g.23637647C>A | CA510163459 | CST3 | c.216G>T (p.Ala72=)
| gnomAD v4 |
| 20 | g.23637647C>G | CA510163460 | CST3 | c.216G>C (p.Ala72=)
| |
| 20 | g.23637647C>T | CA510163461 | CST3 | c.216G>A (p.Ala72=)
| gnomAD v4 |
| 20 | g.23637648G>A | CA408424092 | CST3 | c.215C>T (p.Ala72Val)
| dbSNP gnomAD v4 |
| 20 | g.23637648G>C | CA408424093 | CST3 | c.215C>G (p.Ala72Gly)
| |
| 20 | g.23637648G= | CA2355967062 | CST3 | c.215C= (p.Ala72=)
| |
| 20 | g.23637648G>T | CA408424094 | CST3 | c.215C>A (p.Ala72Glu)
| |
| 20 | g.23637649C>A | CA9790245 | CST3 | c.214G>T (p.Ala72Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23637649C= | CA2355967063 | CST3 | c.214G= (p.Ala72=)
| |
| 20 | g.23637649C>G | CA408424095 | CST3 | c.214G>C (p.Ala72Pro)
| gnomAD v4 |
| 20 | g.23637649C>T | CA408424096 | CST3 | c.214G>A (p.Ala72Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23637650G>A | CA510163462 | CST3 | c.213C>T (p.Arg71=)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23637650G>C | CA510163463 | CST3 | c.213C>G (p.Arg71=)
| gnomAD v4 |
| 20 | g.23637650G= | CA2355967064 | CST3 | c.213C= (p.Arg71=)
| |
| 20 | g.23637650G>T | CA510163464 | CST3 | c.213C>A (p.Arg71=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.23637651C>A | CA408424097 | CST3 | c.212G>T (p.Arg71Leu)
| gnomAD v4 |
| 20 | g.23637651C= | CA2355967065 | CST3 | c.212G= (p.Arg71=)
| |
| 20 | g.23637651C>G | CA408424098 | CST3 | c.212G>C (p.Arg71Pro)
| gnomAD v4 |
| 20 | g.23637651C>T | CA313615322 | CST3 | c.212G>A (p.Arg71His)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23637652G>A | CA408424099 | CST3 | c.211C>T (p.Arg71Cys)
| gnomAD v4 |
| 20 | g.23637652G>C | CA9790246 | CST3 | c.211C>G (p.Arg71Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.23637652G= | CA2355967066 | CST3 | c.211C= (p.Arg71=)
| |
| 20 | g.23637652G>T | CA313615329 | CST3 | c.211C>A (p.Arg71Ser)
| dbSNP gnomAD v4 |
| 20 | g.23637653G>A | CA510163465 | CST3 | c.210C>T (p.Ser70=)
| dbSNP gnomAD v4 |
| 20 | g.23637653G>C | CA408424100 | CST3 | c.210C>G (p.Ser70Arg)
| |
| 20 | g.23637653G= | CA2355967067 | CST3 | c.210C= (p.Ser70=)
| |
| 20 | g.23637653G>T | CA408424101 | CST3 | c.210C>A (p.Ser70Arg)
| dbSNP gnomAD v4 |
| 20 | g.23637654C>A | CA408424102 | CST3 | c.209G>T (p.Ser70Ile)
| gnomAD v4 |
| 20 | g.23637654C>G | CA408424103 | CST3 | c.209G>C (p.Ser70Thr)
| gnomAD v4 |
| 20 | g.23637654C>T | CA408424104 | CST3 | c.209G>A (p.Ser70Asn)
| |
| 20 | g.23637654_23637656delinsCTG | CA2355967068 | CST3 | c.207_209delinsCAG (p.His69=)
| |
| 20 | g.23637655T>A | CA408424105 | CST3 | c.208A>T (p.Ser70Cys)
| |
| 20 | g.23637655T>C | CA408424106 | CST3 | c.208A>G (p.Ser70Gly)
| |
| 20 | g.23637655T>G | CA408424107 | CST3 | c.208A>C (p.Ser70Arg)
| |
| 20 | g.23637657_23637658dup | CA2355967069 | CST3 | c.207_208dup (p.Ser70ThrfsTer15)
| dbSNP gnomAD v4 |
| 20 | g.23637657_23637658del | CA1016245562 | CST3 | c.207_208del (p.His69GlnfsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23637656G>A | CA510163466 | CST3 | c.207C>T (p.His69=)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23637656G>C | CA408424108 | CST3 | c.207C>G (p.His69Gln)
| |
| 20 | g.23637656G= | CA2355967070 | CST3 | c.207C= (p.His69=)
| |
| 20 | g.23637656G>T | CA408424109 | CST3 | c.207C>A (p.His69Gln)
| gnomAD v4 |
| 20 | g.23637657T>A | CA408424110 | CST3 | c.206A>T (p.His69Leu)
| |
| 20 | g.23637657T>C | CA408424111 | CST3 | c.206A>G (p.His69Arg)
| gnomAD v4 |
| 20 | g.23637657T>G | CA408424112 | CST3 | c.206A>C (p.His69Pro)
| |
| 20 | g.23637658G>A | CA408424115 | CST3 | c.205C>T (p.His69Tyr)
| gnomAD v4 |
| 20 | g.23637658G>C | CA408424114 | CST3 | c.205C>G (p.His69Asp)
| |
| 20 | g.23637658G>T | CA408424113 | CST3 | c.205C>A (p.His69Asn)
| gnomAD v4 |
| 20 | g.23637659G>A | CA510163467 | CST3 | c.204C>T (p.Tyr68=)
| gnomAD v4 |
| 20 | g.23637659G>C | CA408424116 | CST3 | c.204C>G (p.Tyr68Ter)
| gnomAD v4 |
| 20 | g.23637659G>T | CA408424117 | CST3 | c.204C>A (p.Tyr68Ter)
| gnomAD v4 |
| 20 | g.23637660T>A | CA408424118 | CST3 | c.203A>T (p.Tyr68Phe)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23637660T>C | CA408424119 | CST3 | c.203A>G (p.Tyr68Cys)
| gnomAD v4 |
| 20 | g.23637660T>G | CA408424120 | CST3 | c.203A>C (p.Tyr68Ser)
| |
| 20 | g.23637660T= | CA2355967071 | CST3 | c.203A= (p.Tyr68=)
| |
| 20 | g.23637661_23637682dup | CA2652171759 | CST3 | c.182_203dup (p.Tyr68Ter)
| gnomAD v4 |
| 20 | g.23637661A= | CA2355967072 | CST3 | c.202T= (p.Tyr68=)
| |
| 20 | g.23637661A>C | CA408424121 | CST3 | c.202T>G (p.Tyr68Asp)
| |
| 20 | g.23637661A>G | CA408424122 | CST3 | c.202T>C (p.Tyr68His)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23637661A>T | CA408424123 | CST3 | c.202T>A (p.Tyr68Asn)
| gnomAD v4 |
| 20 | g.23637662C>A | CA408424124 | CST3 | c.201G>T (p.Met67Ile)
| dbSNP gnomAD v4 |
| 20 | g.23637662C= | CA2355967073 | CST3 | c.201G= (p.Met67=)
| |
| 20 | g.23637662C>G | CA408424125 | CST3 | c.201G>C (p.Met67Ile)
| |
| 20 | g.23637662C>T | CA408424126 | CST3 | c.201G>A (p.Met67Ile)
| dbSNP gnomAD v4 |
| 20 | g.23637663A= | CA2355967074 | CST3 | c.200T= (p.Met67=)
| |
| 20 | g.23637663A>C | CA9790247 | CST3 | c.200T>G (p.Met67Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23637663A>G | CA408424127 | CST3 | c.200T>C (p.Met67Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23637663A>T | CA313615335 | CST3 | c.200T>A (p.Met67Lys)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23637663_23637664delinsAT | CA2355967075 | CST3 | c.199_200delinsAT (p.Met67=)
| |
| 20 | g.23637664del | CA635266188 | CST3 | c.199del (p.Met67CysfsTer17)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23637664T>A | CA408424129 | CST3 | c.199A>T (p.Met67Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23637664T>C | CA9790248 | CST3 | c.199A>G (p.Met67Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23637664T>G | CA408424128 | CST3 | c.199A>C (p.Met67Leu)
| dbSNP gnomAD v4 |
| 20 | g.23637664T= | CA2355967076 | CST3 | c.199A= (p.Met67=)
| |
| 20 | g.23637665G>A | CA510163468 | CST3 | c.198C>T (p.Asp66=)
| gnomAD v4 |
| 20 | g.23637665G>C | CA408424130 | CST3 | c.198C>G (p.Asp66Glu)
| gnomAD v4 |
| 20 | g.23637665G>T | CA408424131 | CST3 | c.198C>A (p.Asp66Glu)
| |
| 20 | g.23637667_23637669del | CA2652171760 | CST3 | c.196_198del (p.Asp66del)
| ClinVar gnomAD v4 |
| 20 | g.23637666T>A | CA408424132 | CST3 | c.197A>T (p.Asp66Val)
| dbSNP |
| 20 | g.23637666T>C | CA408424133 | CST3 | c.197A>G (p.Asp66Gly)
| gnomAD v4 |
| 20 | g.23637666T>G | CA408424134 | CST3 | c.197A>C (p.Asp66Ala)
| |
| 20 | g.23637666T= | CA2355967077 | CST3 | c.197A= (p.Asp66=)
| |
| 20 | g.23637667C>A | CA408424135 | CST3 | c.196G>T (p.Asp66Tyr)
| dbSNP gnomAD v4 |
| 20 | g.23637667C= | CA2355967078 | CST3 | c.196G= (p.Asp66=)
| |
| 20 | g.23637667C>G | CA408424136 | CST3 | c.196G>C (p.Asp66His)
| gnomAD v4 |
| 20 | g.23637667C>T | CA9790249 | CST3 | c.196G>A (p.Asp66Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23637668G>A | CA510163469 | CST3 | c.195C>T (p.Asn65=)
| dbSNP gnomAD v4 |
| 20 | g.23637668G>C | CA313615342 | CST3 | c.195C>G (p.Asn65Lys)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23637668G= | CA2355967079 | CST3 | c.195C= (p.Asn65=)
| |
| 20 | g.23637668G>T | CA408424137 | CST3 | c.195C>A (p.Asn65Lys)
| gnomAD v4 |
| 20 | g.23637669T>A | CA408424138 | CST3 | c.194A>T (p.Asn65Ile)
| |
| 20 | g.23637669T>C | CA408424139 | CST3 | c.194A>G (p.Asn65Ser)
| gnomAD v4 |
| 20 | g.23637669T>G | CA408424140 | CST3 | c.194A>C (p.Asn65Thr)
| |
| 20 | g.23637670T>A | CA408424141 | CST3 | c.193A>T (p.Asn65Tyr)
| |
| 20 | g.23637670T>C | CA408424143 | CST3 | c.193A>G (p.Asn65Asp)
| gnomAD v4 |
| 20 | g.23637670T>G | CA408424142 | CST3 | c.193A>C (p.Asn65His)
| |
| 20 | g.23637671G>A | CA510163470 | CST3 | c.192C>T (p.Ser64=)
| gnomAD v4 |
| 20 | g.23637671G>C | CA408424144 | CST3 | c.192C>G (p.Ser64Arg)
| |
| 20 | g.23637671G>T | CA408424145 | CST3 | c.192C>A (p.Ser64Arg)
| gnomAD v4 |
| 20 | g.23637672C>A | CA408424146 | CST3 | c.191G>T (p.Ser64Ile)
| gnomAD v4 |
| 20 | g.23637672C>G | CA408424147 | CST3 | c.191G>C (p.Ser64Thr)
| |
| 20 | g.23637672C>T | CA408424148 | CST3 | c.191G>A (p.Ser64Asn)
| gnomAD v4 |
| 20 | g.23637673T>A | CA408424149 | CST3 | c.190A>T (p.Ser64Cys)
| |
| 20 | g.23637673T>C | CA408424150 | CST3 | c.190A>G (p.Ser64Gly)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23637673T>G | CA408424151 | CST3 | c.190A>C (p.Ser64Arg)
| gnomAD v4 |
| 20 | g.23637673T= | CA2355967080 | CST3 | c.190A= (p.Ser64=)
| |
| 20 | g.23637674G>A | CA510163471 | CST3 | c.189C>T (p.Ala63=)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23637674G>C | CA510163472 | CST3 | c.189C>G (p.Ala63=)
| |
| 20 | g.23637674G= | CA2355967081 | CST3 | c.189C= (p.Ala63=)
| |
| 20 | g.23637674G>T | CA510163473 | CST3 | c.189C>A (p.Ala63=)
| gnomAD v4 |
| 20 | g.23637675G>A | CA408424152 | CST3 | c.188C>T (p.Ala63Val)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23637675G>C | CA408424153 | CST3 | c.188C>G (p.Ala63Gly)
| |
| 20 | g.23637675G= | CA2355967082 | CST3 | c.188C= (p.Ala63=)
| |
| 20 | g.23637675G>T | CA408424154 | CST3 | c.188C>A (p.Ala63Asp)
| |
| 20 | g.23637676C>A | CA408424156 | CST3 | c.187G>T (p.Ala63Ser)
| gnomAD v4 |
| 20 | g.23637676C= | CA2355967083 | CST3 | c.187G= (p.Ala63=)
| |
| 20 | g.23637676C>G | CA408424157 | CST3 | c.187G>C (p.Ala63Pro)
| |
| 20 | g.23637676C>T | CA408424155 | CST3 | c.187G>A (p.Ala63Thr)
| dbSNP gnomAD v4 |
| 20 | g.23637677T>A | CA408424159 | CST3 | c.186A>T (p.Lys62Asn)
| gnomAD v4 |
| 20 | g.23637677T>C | CA510163474 | CST3 | c.186A>G (p.Lys62=)
| gnomAD v4 |
| 20 | g.23637677T>G | CA408424158 | CST3 | c.186A>C (p.Lys62Asn)
| |
| 20 | g.23637679_23637682dup | CA2652171762 | CST3 | c.183_186dup (p.Ala63GlnfsTer?)
| gnomAD v4 |
| 20 | g.23637678T>A | CA408424162 | CST3 | c.185A>T (p.Lys62Ile)
| |
| 20 | g.23637678T>C | CA408424160 | CST3 | c.185A>G (p.Lys62Arg)
| ClinVar gnomAD v4 |
| 20 | g.23637678T>G | CA408424161 | CST3 | c.185A>C (p.Lys62Thr)
| |
| 20 | g.23637682_23637684del | CA2652171763 | CST3 | c.183_185del (p.Asn61del)
| gnomAD v4 |
| 20 | g.23637679T>A | CA408424163 | CST3 | c.184A>T (p.Lys62Ter)
| |
| 20 | g.23637679T>C | CA313615346 | CST3 | c.184A>G (p.Lys62Glu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23637679T>G | CA408424164 | CST3 | c.184A>C (p.Lys62Gln)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23637679T= | CA2355967084 | CST3 | c.184A= (p.Lys62=)
| |
| 20 | g.23637680G>A | CA510163475 | CST3 | c.183C>T (p.Asn61=)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23637680G>C | CA408424165 | CST3 | c.183C>G (p.Asn61Lys)
| |
| 20 | g.23637680G= | CA2355967085 | CST3 | c.183C= (p.Asn61=)
| |
| 20 | g.23637680G>T | CA408424166 | CST3 | c.183C>A (p.Asn61Lys)
| gnomAD v4 |
| 20 | g.23637681T>A | CA408424167 | CST3 | c.182A>T (p.Asn61Ile)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23637681T>C | CA408424168 | CST3 | c.182A>G (p.Asn61Ser)
| gnomAD v4 |
| 20 | g.23637681T>G | CA408424169 | CST3 | c.182A>C (p.Asn61Thr)
| |
| 20 | g.23637681T= | CA2355967086 | CST3 | c.182A= (p.Asn61=)
| |
| 20 | g.23637682T>A | CA408424170 | CST3 | c.181A>T (p.Asn61Tyr)
| gnomAD v4 |
| 20 | g.23637682T>C | CA408424171 | CST3 | c.181A>G (p.Asn61Asp)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23637682T>G | CA408424172 | CST3 | c.181A>C (p.Asn61His)
| |
| 20 | g.23637682T= | CA2355967087 | CST3 | c.181A= (p.Asn61=)
| |
| 20 | g.23637683G>A | CA510163476 | CST3 | c.180C>T (p.Tyr60=)
| gnomAD v4 |
| 20 | g.23637683G>C | CA408424173 | CST3 | c.180C>G (p.Tyr60Ter)
| gnomAD v4 |
| 20 | g.23637683G>T | CA408424174 | CST3 | c.180C>A (p.Tyr60Ter)
| gnomAD v4 |
| 20 | g.23637684T>A | CA408424175 | CST3 | c.179A>T (p.Tyr60Phe)
| |
| 20 | g.23637684T>C | CA9790250 | CST3 | c.179A>G (p.Tyr60Cys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.23637684T>G | CA408424176 | CST3 | c.179A>C (p.Tyr60Ser)
| |
| 20 | g.23637684T= | CA2355967088 | CST3 | c.179A= (p.Tyr60=)
| |
| 20 | g.23637685A>C | CA408424177 | CST3 | c.178T>G (p.Tyr60Asp)
| |
| 20 | g.23637685A>G | CA408424178 | CST3 | c.178T>C (p.Tyr60His)
| gnomAD v4 |
| 20 | g.23637685A>T | CA408424179 | CST3 | c.178T>A (p.Tyr60Asn)
| |
| 20 | g.23637686C>A | CA408424180 | CST3 | c.177G>T (p.Glu59Asp)
| gnomAD v4 |
| 20 | g.23637686C= | CA2355967090 | CST3 | c.177G= (p.Glu59=)
| |
| 20 | g.23637686C>G | CA408424181 | CST3 | c.177G>C (p.Glu59Asp)
| |
| 20 | g.23637686C>T | CA510163477 | CST3 | c.177G>A (p.Glu59=)
| dbSNP gnomAD v4 |
| 20 | g.23637686_23637687delinsCT | CA2355967089 | CST3 | c.176_177delinsAG (p.Glu59=)
| |
| 20 | g.23637687del | CA9790251 | CST3 | c.176del (p.Glu59GlyfsTer25)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23637687T>A | CA408424182 | CST3 | c.176A>T (p.Glu59Val)
| |
| 20 | g.23637687T>C | CA408424183 | CST3 | c.176A>G (p.Glu59Gly)
| |
| 20 | g.23637687T>G | CA408424184 | CST3 | c.176A>C (p.Glu59Ala)
| |
| 20 | g.23637688C>A | CA408424187 | CST3 | c.175G>T (p.Glu59Ter)
| gnomAD v4 |
| 20 | g.23637688C>G | CA408424186 | CST3 | c.175G>C (p.Glu59Gln)
| |
| 20 | g.23637688C>T | CA408424185 | CST3 | c.175G>A (p.Glu59Lys)
| gnomAD v4 |
| 20 | g.23637689G>A | CA9790252 | CST3 | c.174C>T (p.Gly58=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23637689G>C | CA510163478 | CST3 | c.174C>G (p.Gly58=)
| |
| 20 | g.23637689G= | CA2355967091 | CST3 | c.174C= (p.Gly58=)
| |
| 20 | g.23637689G>T | CA510163479 | CST3 | c.174C>A (p.Gly58=)
| gnomAD v4 |
| 20 | g.23637690C>A | CA408424188 | CST3 | c.173G>T (p.Gly58Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23637690C= | CA2355967092 | CST3 | c.173G= (p.Gly58=)
| |
| 20 | g.23637690C>G | CA408424189 | CST3 | c.173G>C (p.Gly58Ala)
| |
| 20 | g.23637690C>T | CA408424190 | CST3 | c.173G>A (p.Gly58Asp)
| gnomAD v4 |
| 20 | g.23637691del | CA2652171764 | CST3 | c.173del (p.Gly58AlafsTer26)
| gnomAD v4 |
| 20 | g.23637691C>A | CA408424191 | CST3 | c.172G>T (p.Gly58Cys)
| gnomAD v4 |
| 20 | g.23637691C= | CA2355967093 | CST3 | c.172G= (p.Gly58=)
| |
| 20 | g.23637691C>G | CA408424192 | CST3 | c.172G>C (p.Gly58Arg)
| gnomAD v4 |
| 20 | g.23637691C>T | CA313615357 | CST3 | c.172G>A (p.Gly58Ser)
| dbSNP gnomAD v4 |
| 20 | g.23637692G>A | CA510163480 | CST3 | c.171C>T (p.Val57=)
| gnomAD v4 |
| 20 | g.23637692G>C | CA510163481 | CST3 | c.171C>G (p.Val57=)
| gnomAD v4 |
| 20 | g.23637692G>T | CA510163482 | CST3 | c.171C>A (p.Val57=)
| gnomAD v4 |
| 20 | g.23637693A= | CA2355967094 | CST3 | c.170T= (p.Val57=)
| |
| 20 | g.23637693A>C | CA408424193 | CST3 | c.170T>G (p.Val57Gly)
| |
| 20 | g.23637693A>G | CA408424194 | CST3 | c.170T>C (p.Val57Ala)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23637693A>T | CA408424195 | CST3 | c.170T>A (p.Val57Asp)
| gnomAD v4 |
| 20 | g.23637694C>A | CA408424196 | CST3 | c.169G>T (p.Val57Phe)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.23637694C= | CA2355967095 | CST3 | c.169G= (p.Val57=)
| |
| 20 | g.23637694C>G | CA408424197 | CST3 | c.169G>C (p.Val57Leu)
| |
| 20 | g.23637694C>T | CA408424198 | CST3 | c.169G>A (p.Val57Ile)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23637695G>A | CA9790253 | CST3 | c.168C>T (p.Ala56=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.23637695G>C | CA510163483 | CST3 | c.168C>G (p.Ala56=)
| |
| 20 | g.23637695G= | CA2355967096 | CST3 | c.168C= (p.Ala56=)
| |
| 20 | g.23637695G>T | CA510163484 | CST3 | c.168C>A (p.Ala56=)
| gnomAD v4 |
| 20 | g.23637696G>A | CA408424201 | CST3 | c.167C>T (p.Ala56Val)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23637696G>C | CA408424199 | CST3 | c.167C>G (p.Ala56Gly)
| |
| 20 | g.23637696G= | CA2355967097 | CST3 | c.167C= (p.Ala56=)
| |
| 20 | g.23637696G>T | CA408424200 | CST3 | c.167C>A (p.Ala56Asp)
| gnomAD v4 |
| 20 | g.23637697C>A | CA408424202 | CST3 | c.166G>T (p.Ala56Ser)
| gnomAD v4 |
| 20 | g.23637697C>G | CA408424203 | CST3 | c.166G>C (p.Ala56Pro)
| |
| 20 | g.23637697C>T | CA408424204 | CST3 | c.166G>A (p.Ala56Thr)
| gnomAD v4 |
| 20 | g.23637698A= | CA2355967098 | CST3 | c.165T= (p.Phe55=)
| |
| 20 | g.23637698A>C | CA408424205 | CST3 | c.165T>G (p.Phe55Leu)
| |
| 20 | g.23637698A>G | CA313615371 | CST3 | c.165T>C (p.Phe55=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23637698A>T | CA408424206 | CST3 | c.165T>A (p.Phe55Leu)
| |
| 20 | g.23637699A>C | CA408424207 | CST3 | c.164T>G (p.Phe55Cys)
| |
| 20 | g.23637699A>G | CA408424208 | CST3 | c.164T>C (p.Phe55Ser)
| gnomAD v4 |
| 20 | g.23637699A>T | CA408424209 | CST3 | c.164T>A (p.Phe55Tyr)
| |
| 20 | g.23637700A= | CA2355967099 | CST3 | c.163T= (p.Phe55=)
| |
| 20 | g.23637700A>C | CA408424210 | CST3 | c.163T>G (p.Phe55Val)
| |
| 20 | g.23637700A>G | CA9790254 | CST3 | c.163T>C (p.Phe55Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.23637700A>T | CA408424211 | CST3 | c.163T>A (p.Phe55Ile)
| gnomAD v4 |
| 20 | g.23637701G>A | CA510163485 | CST3 | c.162C>T (p.Asp54=)
| gnomAD v4 |
| 20 | g.23637701G>C | CA408424212 | CST3 | c.162C>G (p.Asp54Glu)
| gnomAD v4 |
| 20 | g.23637701G>T | CA408424213 | CST3 | c.162C>A (p.Asp54Glu)
| gnomAD v4 |
| 20 | g.23637702T>A | CA408424216 | CST3 | c.161A>T (p.Asp54Val)
| |
| 20 | g.23637702T>C | CA408424215 | CST3 | c.161A>G (p.Asp54Gly)
| gnomAD v4 |
| 20 | g.23637702T>G | CA408424214 | CST3 | c.161A>C (p.Asp54Ala)
| |
| 20 | g.23637703C>A | CA408424217 | CST3 | c.160G>T (p.Asp54Tyr)
| gnomAD v4 |
| 20 | g.23637703C= | CA2355967100 | CST3 | c.160G= (p.Asp54=)
| |
| 20 | g.23637703C>G | CA408424218 | CST3 | c.160G>C (p.Asp54His)
| |
| 20 | g.23637703C>T | CA408424219 | CST3 | c.160G>A (p.Asp54Asn)
| dbSNP |
| 20 | g.23637704C>A | CA510163486 | CST3 | c.159G>T (p.Leu53=)
| gnomAD v4 |
| 20 | g.23637704C= | CA2355967101 | CST3 | c.159G= (p.Leu53=)
| |
| 20 | g.23637704C>G | CA510163487 | CST3 | c.159G>C (p.Leu53=)
| |
| 20 | g.23637704C>T | CA9790255 | CST3 | c.159G>A (p.Leu53=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
