Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.50543945A>C | CA454943319 | DDC | c.141T>G (p.Pro47=) c.38T>G | |
7 | g.50543945A>G | CA454943320 | DDC | c.141T>C (p.Pro47=) c.38T>C | |
7 | g.50543945A>T | CA454943321 | DDC | c.141T>A (p.Pro47=) c.38T>A | |
7 | g.50543946G>A | CA158234565 | DDC | c.140C>T (p.Pro47Leu) c.37C>T | dbSNP |
7 | g.50543946G>C | CA367531774 | DDC | c.140C>G (p.Pro47Arg) c.37C>G | |
7 | g.50543946G= | CA1706653868 | DDC | c.140C= (p.Pro47=) c.37C= | |
7 | g.50543946G>T | CA4262488 | DDC | c.140C>A (p.Pro47His) c.37C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.50543947G>A | CA367531778 | DDC | c.139C>T (p.Pro47Ser) c.36C>T | COSMIC COSMIC |
7 | g.50543947G>C | CA367531782 | DDC | c.139C>G (p.Pro47Ala) c.36C>G | |
7 | g.50543947G>T | CA367531779 | DDC | c.139C>A (p.Pro47Thr) c.36C>A | ClinVar |
7 | g.50543948G>A | CA454943322 | DDC | c.138C>T (p.Ala46=) c.35C>T | gnomAD v4 |
7 | g.50543948G>C | CA454943323 | DDC | c.138C>G (p.Ala46=) c.35C>G | |
7 | g.50543948G>T | CA454943325 | DDC | c.138C>A (p.Ala46=) c.35C>A | COSMIC COSMIC |
7 | g.50543949G>A | CA158234566 | DDC | c.137C>T (p.Ala46Val) c.34C>T | dbSNP |
7 | g.50543949G>C | CA367531785 | DDC | c.137C>G (p.Ala46Gly) c.34C>G | |
7 | g.50543949G= | CA1706653869 | DDC | c.137C= (p.Ala46=) c.34C= | |
7 | g.50543949G>T | CA367531787 | DDC | c.137C>A (p.Ala46Asp) c.34C>A | |
7 | g.50543950C>A | CA367531796 | DDC | c.136G>T (p.Ala46Ser) c.33G>T | |
7 | g.50543950C>G | CA367531802 | DDC | c.136G>C (p.Ala46Pro) c.33G>C | |
7 | g.50543950C>T | CA367531803 | DDC | c.136G>A (p.Ala46Thr) c.33G>A | |
7 | g.50543951A= | CA1706653870 | DDC | c.135T= (p.Ala45=) c.32T= | |
7 | g.50543951A>C | CA454943335 | DDC | c.135T>G (p.Ala45=) c.32T>G | |
7 | g.50543951A>G | CA4262489 | DDC | c.135T>C (p.Ala45=) c.32T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50543951A>T | CA454943332 | DDC | c.135T>A (p.Ala45=) c.32T>A | |
7 | g.50543952G>A | CA367531809 | DDC | c.134C>T (p.Ala45Val) c.31C>T | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
7 | g.50543952G>C | CA367531811 | DDC | c.134C>G (p.Ala45Gly) c.31C>G | |
7 | g.50543952G= | CA1706653871 | DDC | c.134C= (p.Ala45=) c.31C= | |
7 | g.50543952G>T | CA367531812 | DDC | c.134C>A (p.Ala45Asp) c.31C>A | |
7 | g.50543953C>A | CA367531815 | DDC | c.133G>T (p.Ala45Ser) c.30G>T | dbSNP |
7 | g.50543953C= | CA1706653872 | DDC | c.133G= (p.Ala45=) c.30G= | |
7 | g.50543953C>G | CA367531814 | DDC | c.133G>C (p.Ala45Pro) c.30G>C | |
7 | g.50543953C>T | CA4262490 | DDC | c.133G>A (p.Ala45Thr) c.30G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50543954G>A | CA4262491 | DDC | c.132C>T (p.Ala44=) c.29C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50543954G>C | CA454943340 | DDC | c.132C>G (p.Ala44=) c.29C>G | |
7 | g.50543954G= | CA1706653873 | DDC | c.132C= (p.Ala44=) c.29C= | |
7 | g.50543954G>T | CA454943342 | DDC | c.132C>A (p.Ala44=) c.29C>A | dbSNP gnomAD v4 |
7 | g.50543955G>A | CA367531823 | DDC | c.131C>T (p.Ala44Val) c.28C>T | dbSNP gnomAD v3 gnomAD v4 |
7 | g.50543955G>C | CA367531821 | DDC | c.131C>G (p.Ala44Gly) c.28C>G | |
7 | g.50543955G= | CA1706653874 | DDC | c.131C= (p.Ala44=) c.28C= | |
7 | g.50543955G>T | CA367531825 | DDC | c.131C>A (p.Ala44Asp) c.28C>A | |
7 | g.50543956C>A | CA367531830 | DDC | c.130G>T (p.Ala44Ser) c.27G>T | |
7 | g.50543956C>G | CA367531833 | DDC | c.130G>C (p.Ala44Pro) c.27G>C | |
7 | g.50543956C>T | CA367531832 | DDC | c.130G>A (p.Ala44Thr) c.27G>A | gnomAD v4 |
7 | g.50543957A= | CA1706653876 | DDC | c.129T= (p.Pro43=) c.26T= | |
7 | g.50543957A>C | CA454943351 | DDC | c.129T>G (p.Pro43=) c.26T>G | |
7 | g.50543957A>G | CA454943349 | DDC | c.129T>C (p.Pro43=) c.26T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50543957A>T | CA454943350 | DDC | c.129T>A (p.Pro43=) c.26T>A | |
7 | g.50543957_50543958delinsAG | CA1706653875 | DDC | c.128_129delinsCT (p.Pro43=) c.25_26delinsCT | |
7 | g.50543958G>A | CA367531835 | DDC | c.128C>T (p.Pro43Leu) c.25C>T | COSMIC COSMIC |
7 | g.50543958G>C | CA367531839 | DDC | c.128C>G (p.Pro43Arg) c.25C>G | ClinVar dbSNP |
7 | g.50543958G= | CA1706653877 | DDC | c.128C= (p.Pro43=) c.25C= | |
7 | g.50543958G>T | CA367531843 | DDC | c.128C>A (p.Pro43His) c.25C>A | |
7 | g.50543960del | CA4262492 | DDC | c.128del (p.Pro43LeufsTer21) c.25del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50543959G>A | CA367531845 | DDC | c.127C>T (p.Pro43Ser) c.24C>T | gnomAD v4 |
7 | g.50543959G>C | CA367531846 | DDC | c.127C>G (p.Pro43Ala) c.24C>G | |
7 | g.50543959G= | CA1706653878 | DDC | c.127C= (p.Pro43=) c.24C= | |
7 | g.50543959G>T | CA367531847 | DDC | c.127C>A (p.Pro43Thr) c.24C>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.50543960G>A | CA454943356 | DDC | c.126C>T (p.Ile42=) c.23C>T | gnomAD v4 COSMIC COSMIC |
7 | g.50543960G>C | CA367531850 | DDC | c.126C>G (p.Ile42Met) c.23C>G | |
7 | g.50543960G= | CA1706653879 | DDC | c.126C= (p.Ile42=) c.23C= | |
7 | g.50543960G>T | CA158234567 | DDC | c.126C>A (p.Ile42=) c.23C>A | dbSNP gnomAD v4 |
7 | g.50543961A>C | CA367531861 | DDC | c.125T>G (p.Ile42Ser) c.22T>G | |
7 | g.50543961A>G | CA367531867 | DDC | c.125T>C (p.Ile42Thr) c.22T>C | |
7 | g.50543961A>T | CA367531870 | DDC | c.125T>A (p.Ile42Asn) c.22T>A | |
7 | g.50543962T>A | CA367531873 | DDC | c.124A>T (p.Ile42Phe) c.21A>T | |
7 | g.50543962T>C | CA367531877 | DDC | c.124A>G (p.Ile42Val) c.21A>G | |
7 | g.50543962T>G | CA367531875 | DDC | c.124A>C (p.Ile42Leu) c.21A>C | |
7 | g.50543963C>A | CA454943364 | DDC | c.123G>T (p.Leu41=) c.20G>T | gnomAD v4 |
7 | g.50543963C= | CA1706653880 | DDC | c.123G= (p.Leu41=) c.20G= | |
7 | g.50543963C>G | CA454943366 | DDC | c.123G>C (p.Leu41=) c.20G>C | |
7 | g.50543963C>T | CA454943367 | DDC | c.123G>A (p.Leu41=) c.20G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
7 | g.50543964A>C | CA367531880 | DDC | c.122T>G (p.Leu41Arg) c.19T>G | |
7 | g.50543964A>G | CA367531882 | DDC | c.122T>C (p.Leu41Pro) c.19T>C | |
7 | g.50543964A>T | CA367531884 | DDC | c.122T>A (p.Leu41Gln) c.19T>A | |
7 | g.50543965G>A | CA454943372 | DDC | c.121C>T (p.Leu41=) c.18C>T | |
7 | g.50543965G>C | CA367531885 | DDC | c.121C>G (p.Leu41Val) c.18C>G | |
7 | g.50543965G= | CA1706653881 | DDC | c.121C= (p.Leu41=) c.18C= | |
7 | g.50543965G>T | CA4262493 | DDC | c.121C>A (p.Leu41Met) c.18C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50543966C>A | CA454943376 | DDC | c.120G>T (p.Pro40=) c.17G>T | |
7 | g.50543966C= | CA1706653882 | DDC | c.120G= (p.Pro40=) c.17G= | |
7 | g.50543966C>G | CA454943375 | DDC | c.120G>C (p.Pro40=) c.17G>C | gnomAD v4 |
7 | g.50543966C>T | CA4262494 | DDC | c.120G>A (p.Pro40=) c.17G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50543967G>A | CA4262495 | DDC | c.119C>T (p.Pro40Leu) c.16C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50543967G>C | CA367531888 | DDC | c.119C>G (p.Pro40Arg) c.16C>G | |
7 | g.50543967G= | CA1706653883 | DDC | c.119C= (p.Pro40=) c.16C= | |
7 | g.50543967G>T | CA158234568 | DDC | c.119C>A (p.Pro40Gln) c.16C>A | dbSNP |
7 | g.50543968G>A | CA367531893 | DDC | c.118C>T (p.Pro40Ser) c.15C>T | |
7 | g.50543968G>C | CA367531896 | DDC | c.118C>G (p.Pro40Ala) c.15C>G | |
7 | g.50543968G>T | CA367531891 | DDC | c.118C>A (p.Pro40Thr) c.15C>A | |
7 | g.50543969C>A | CA454943383 | DDC | c.117G>T (p.Arg39=) c.14G>T | gnomAD v4 |
7 | g.50543969C= | CA1706653884 | DDC | c.117G= (p.Arg39=) c.14G= | |
7 | g.50543969C>G | CA454943385 | DDC | c.117G>C (p.Arg39=) c.14G>C | |
7 | g.50543969C>T | CA454943387 | DDC | c.117G>A (p.Arg39=) c.14G>A | dbSNP |
7 | g.50543970C>A | CA367531899 | DDC | c.116G>T (p.Arg39Leu) c.13G>T | |
7 | g.50543970C= | CA1706653885 | DDC | c.116G= (p.Arg39=) c.13G= | |
7 | g.50543970C>G | CA158234569 | DDC | c.116G>C (p.Arg39Pro) c.13G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50543970C>T | CA4262496 | DDC | c.116G>A (p.Arg39Gln) c.13G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50543971G>A | CA4262498 | DDC | c.115C>T (p.Arg39Trp) c.12C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.50543971G>C | CA367531901 | DDC | c.115C>G (p.Arg39Gly) c.12C>G | gnomAD v4 |
7 | g.50543971G= | CA1706653886 | DDC | c.115C= (p.Arg39=) c.12C= | |
7 | g.50543971G>T | CA4262497 | DDC | c.115C>A (p.Arg39=) c.12C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50543972C>A | CA454943396 | DDC | c.114G>T (p.Leu38=) c.11G>T | |
7 | g.50543972C>G | CA454943399 | DDC | c.114G>C (p.Leu38=) c.11G>C | |
7 | g.50543972C>T | CA454943397 | DDC | c.114G>A (p.Leu38=) c.11G>A | |
7 | g.50543973A= | CA1706653887 | DDC | c.113T= (p.Leu38=) c.10T= | |
7 | g.50543973A>C | CA367531910 | DDC | c.113T>G (p.Leu38Arg) c.10T>G | |
7 | g.50543973A>G | CA367531906 | DDC | c.113T>C (p.Leu38Pro) c.10T>C | dbSNP gnomAD v2 gnomAD v4 |
7 | g.50543973A>T | CA367531907 | DDC | c.113T>A (p.Leu38Gln) c.10T>A | |
7 | g.50543974G>A | CA158234570 | DDC | c.112C>T (p.Leu38=) c.9C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.50543974G>C | CA367531913 | DDC | c.112C>G (p.Leu38Val) c.9C>G | |
7 | g.50543974G= | CA1706653888 | DDC | c.112C= (p.Leu38=) c.9C= | |
7 | g.50543974G>T | CA367531914 | DDC | c.112C>A (p.Leu38Met) c.9C>A | |
7 | g.50543975del | CA2682813288 | DDC | c.112del (p.Leu38CysfsTer4) c.9del | gnomAD v4 |
7 | g.50543975G>A | CA454943406 | DDC | c.111C>T (p.Tyr37=) c.8C>T | gnomAD v4 |
7 | g.50543975G>C | CA367531916 | DDC | c.111C>G (p.Tyr37Ter) c.8C>G | |
7 | g.50543975G>T | CA367531918 | DDC | c.111C>A (p.Tyr37Ter) c.8C>A | |
7 | g.50543976T>A | CA367531920 | DDC | c.110A>T (p.Tyr37Phe) c.7A>T | |
7 | g.50543976T>C | CA367531924 | DDC | c.110A>G (p.Tyr37Cys) c.7A>G | |
7 | g.50543976T>G | CA367531922 | DDC | c.110A>C (p.Tyr37Ser) c.7A>C | dbSNP |
7 | g.50543976T= | CA1706653889 | DDC | c.110A= (p.Tyr37=) c.7A= | |
7 | g.50543977A>C | CA367531926 | DDC | c.109T>G (p.Tyr37Asp) c.6T>G | |
7 | g.50543977A>G | CA367531928 | DDC | c.109T>C (p.Tyr37His) c.6T>C | |
7 | g.50543977A>T | CA367531930 | DDC | c.109T>A (p.Tyr37Asn) c.6T>A | |
7 | g.50543978C>A | CA454943415 | DDC | c.108G>T (p.Gly36=) c.5G>T | |
7 | g.50543978C= | CA1706653890 | DDC | c.108G= (p.Gly36=) c.5G= | |
7 | g.50543978C>G | CA454943418 | DDC | c.108G>C (p.Gly36=) c.5G>C | |
7 | g.50543978C>T | CA4262499 | DDC | c.108G>A (p.Gly36=) c.5G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.50543979C>A | CA367531933 | DDC | c.107G>T (p.Gly36Val) c.4G>T | |
7 | g.50543979C>G | CA367531935 | DDC | c.107G>C (p.Gly36Ala) c.4G>C | |
7 | g.50543979C>T | CA367531937 | DDC | c.107G>A (p.Gly36Glu) c.4G>A | |
7 | g.50543980C>A | CA367531940 | DDC | c.106G>T (p.Gly36Trp) c.3G>T | |
7 | g.50543980C= | CA1706653891 | DDC | c.106G= (p.Gly36=) c.3G= | |
7 | g.50543980C>G | CA367531941 | DDC | c.106G>C (p.Gly36Arg) c.3G>C | gnomAD v4 |
7 | g.50543980C>T | CA4262500 | DDC | c.106G>A (p.Gly36Arg) c.3G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50543981G>A | CA4262501 | DDC | c.105C>T (p.Pro35=) c.2C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50543981G>C | CA454943427 | DDC | c.105C>G (p.Pro35=) c.2C>G | ClinVar |
7 | g.50543981G= | CA1706653892 | DDC | c.105C= (p.Pro35=) c.2C= | |
7 | g.50543981G>T | CA454943429 | DDC | c.105C>A (p.Pro35=) c.2C>A | COSMIC COSMIC |
7 | g.50543983del | CA1139771372 | DDC | c.105del (p.Tyr37ThrfsTer5) | |
7 | g.50543982G>A | CA367531956 | DDC | c.104C>T (p.Pro35Leu) c.1C>T | |
7 | g.50543982G>C | CA367531949 | DDC | c.104C>G (p.Pro35Arg) c.1C>G | |
7 | g.50543982G>T | CA367531947 | DDC | c.104C>A (p.Pro35His) c.1C>A | |
7 | g.50543983G>A | CA367531958 | DDC | c.103C>T (p.Pro35Ser) | dbSNP gnomAD v4 |
7 | g.50543983G>C | CA4262502 | DDC | c.103C>G (p.Pro35Ala) | ClinVar dbSNP ExAC gnomAD v2 |
7 | g.50543983G= | CA1706653893 | DDC | c.103C= (p.Pro35=) | |
7 | g.50543983G>T | CA367531962 | DDC | c.103C>A (p.Pro35Thr) | |
7 | g.50543984C>A | CA367531964 | DDC | c.102G>T (p.Glu34Asp) | gnomAD v4 |
7 | g.50543984C= | CA1706653894 | DDC | c.102G= (p.Glu34=) | |
7 | g.50543984C>G | CA367531965 | DDC | c.102G>C (p.Glu34Asp) | |
7 | g.50543984C>T | CA454943440 | DDC | c.102G>A (p.Glu34=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50543985T>A | CA367531968 | DDC | c.101A>T (p.Glu34Val) | |
7 | g.50543985T>C | CA367531967 | DDC | c.101A>G (p.Glu34Gly) | gnomAD v4 |
7 | g.50543985T>G | CA367531966 | DDC | c.101A>C (p.Glu34Ala) | |
7 | g.50543986C>A | CA367531969 | DDC | c.100G>T (p.Glu34Ter) | |
7 | g.50543986C>G | CA367531970 | DDC | c.100G>C (p.Glu34Gln) | |
7 | g.50543986C>T | CA367531972 | DDC | c.100G>A (p.Glu34Lys) | |
7 | g.50543987C>A | CA454943450 | DDC | c.99G>T (p.Val33=) | |
7 | g.50543987C>G | CA454943447 | DDC | c.99G>C (p.Val33=) | |
7 | g.50543987C>T | CA454943448 | DDC | c.99G>A (p.Val33=) | |
7 | g.50543988A>C | CA367531975 | DDC | c.98T>G (p.Val33Gly) | |
7 | g.50543988A>G | CA367531976 | DDC | c.98T>C (p.Val33Ala) | |
7 | g.50543988A>T | CA367531978 | DDC | c.98T>A (p.Val33Glu) | |
7 | g.50543989C>A | CA367531983 | DDC | c.97G>T (p.Val33Leu) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.50543989C= | CA1706653895 | DDC | c.97G= (p.Val33=) | |
7 | g.50543989C>G | CA367531980 | DDC | c.97G>C (p.Val33Leu) | |
7 | g.50543989C>T | CA4262503 | DDC | c.97G>A (p.Val33Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50543990G>A | CA4262504 | DDC | c.96C>T (p.Asp32=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50543990G>C | CA367531985 | DDC | c.96C>G (p.Asp32Glu) | |
7 | g.50543990G= | CA1706653896 | DDC | c.96C= (p.Asp32=) | |
7 | g.50543990G>T | CA367531987 | DDC | c.96C>A (p.Asp32Glu) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.50543991T>A | CA367531988 | DDC | c.95A>T (p.Asp32Val) | |
7 | g.50543991T>C | CA367531990 | DDC | c.95A>G (p.Asp32Gly) | |
7 | g.50543991T>G | CA367531992 | DDC | c.95A>C (p.Asp32Ala) | |
7 | g.50543992C>A | CA367531994 | DDC | c.94G>T (p.Asp32Tyr) | ClinVar |
7 | g.50543992C>G | CA367531996 | DDC | c.94G>C (p.Asp32His) | |
7 | g.50543992C>T | CA367531998 | DDC | c.94G>A (p.Asp32Asn) | |
7 | g.50543993A>C | CA454943468 | DDC | c.93T>G (p.Pro31=) | |
7 | g.50543993A>G | CA454943470 | DDC | c.93T>C (p.Pro31=) | COSMIC COSMIC |
7 | g.50543993A>T | CA454943472 | DDC | c.93T>A (p.Pro31=) | |
7 | g.50543993_50543994delinsAG | CA1706653897 | DDC | c.92_93delinsCT (p.Pro31=) | |
7 | g.50543994G>A | CA367531999 | DDC | c.92C>T (p.Pro31Leu) c.92C>T | gnomAD v4 |
7 | g.50543994G>C | CA367532000 | DDC | c.92C>G (p.Pro31Arg) c.92C>G | |
7 | g.50543994G>T | CA367532001 | DDC | c.92C>A (p.Pro31His) c.92C>A | dbSNP COSMIC COSMIC |
7 | g.50543996del | CA574695457 | DDC | c.92del (p.Pro31LeufsTer11) c.92del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50543995G>A | CA367532004 | DDC | c.91C>T (p.Pro31Ser) c.91C>T | |
7 | g.50543995G>C | CA367532006 | DDC | c.91C>G (p.Pro31Ala) c.91C>G | |
7 | g.50543995G>T | CA367532005 | DDC | c.91C>A (p.Pro31Thr) c.91C>A | |
7 | g.50543996G>A | CA4262505 | DDC | c.90C>T (p.Tyr30=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.50543996G>C | CA367532007 | DDC | c.90C>G (p.Tyr30Ter) | |
7 | g.50543996G= | CA1706653898 | DDC | c.90C= (p.Tyr30=) | |
7 | g.50543996G>T | CA367532009 | DDC | c.90C>A (p.Tyr30Ter) | |
7 | g.50543997T>A | CA367532010 | DDC | c.89A>T (p.Tyr30Phe) | |
7 | g.50543997T>C | CA158234571 | DDC | c.89A>G (p.Tyr30Cys) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.50543997T>G | CA367532011 | DDC | c.89A>C (p.Tyr30Ser) | dbSNP |
7 | g.50543997T= | CA1706653899 | DDC | c.89A= (p.Tyr30=) | |
7 | g.50543998A>C | CA367532012 | DDC | c.88T>G (p.Tyr30Asp) | |
7 | g.50543998A>G | CA367532014 | DDC | c.88T>C (p.Tyr30His) | |
7 | g.50543998A>T | CA367532016 | DDC | c.88T>A (p.Tyr30Asn) | |
7 | g.50543999G>A | CA454943483 | DDC | c.87C>T (p.Val29=) | |
7 | g.50543999G>C | CA4262506 | DDC | c.87C>G (p.Val29=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
7 | g.50543999G= | CA1706653900 | DDC | c.87C= (p.Val29=) | |
7 | g.50543999G>T | CA454943485 | DDC | c.87C>A (p.Val29=) | |
7 | g.50544000A>C | CA367532020 | DDC | c.86T>G (p.Val29Gly) | |
7 | g.50544000A>G | CA367532021 | DDC | c.86T>C (p.Val29Ala) | |
7 | g.50544000A>T | CA367532023 | DDC | c.86T>A (p.Val29Asp) | |
7 | g.50544001C>A | CA367532025 | DDC | c.85G>T (p.Val29Phe) | |
7 | g.50544001C= | CA1706653901 | DDC | c.85G= (p.Val29=) | |
7 | g.50544001C>G | CA367532029 | DDC | c.85G>C (p.Val29Leu) | |
7 | g.50544001C>T | CA4262507 | DDC | c.85G>A (p.Val29Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50544002C>A | CA367532031 | DDC | c.84G>T (p.Gln28His) | |
7 | g.50544002C>G | CA367532033 | DDC | c.84G>C (p.Gln28His) | |
7 | g.50544002C>T | CA454943498 | DDC | c.84G>A (p.Gln28=) | |
7 | g.50544003T>A | CA367532035 | DDC | c.83A>T (p.Gln28Leu) | |
7 | g.50544003T>C | CA367532036 | DDC | c.83A>G (p.Gln28Arg) | dbSNP gnomAD v4 |
7 | g.50544003T>G | CA367532039 | DDC | c.83A>C (p.Gln28Pro) | |
7 | g.50544004G>A | CA4262508 | DDC | c.82C>T (p.Gln28Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50544004G>C | CA367532044 | DDC | c.82C>G (p.Gln28Glu) | |
7 | g.50544004G= | CA1706653902 | DDC | c.82C= (p.Gln28=) | |
7 | g.50544004G>T | CA367532045 | DDC | c.82C>A (p.Gln28Lys) | |
7 | g.50544005G>A | CA158234572 | DDC | c.81C>T (p.Arg27=) | dbSNP |
7 | g.50544005G>C | CA454943509 | DDC | c.81C>G (p.Arg27=) | |
7 | g.50544005G= | CA1706653903 | DDC | c.81C= (p.Arg27=) | |
7 | g.50544005G>T | CA454943511 | DDC | c.81C>A (p.Arg27=) | |
7 | g.50544006C>A | CA367532048 | DDC | c.80G>T (p.Arg27Leu) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.50544006C= | CA1706653904 | DDC | c.80G= (p.Arg27=) | |
7 | g.50544006C>G | CA367532049 | DDC | c.80G>C (p.Arg27Pro) | gnomAD v4 |
7 | g.50544006C>T | CA4262509 | DDC | c.80G>A (p.Arg27His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
7 | g.50544007G>A | CA4262510 | DDC | c.79C>T (p.Arg27Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50544007G>C | CA367532056 | DDC | c.79C>G (p.Arg27Gly) | dbSNP |
7 | g.50544007G= | CA1706653905 | DDC | c.79C= (p.Arg27=) | |
7 | g.50544007G>T | CA367532054 | DDC | c.79C>A (p.Arg27Ser) | |
7 | g.50544008T>A | CA454943514 | DDC | c.78A>T (p.Gly26=) | |
7 | g.50544008T>C | CA454943513 | DDC | c.78A>G (p.Gly26=) | |
7 | g.50544008T>G | CA454943512 | DDC | c.78A>C (p.Gly26=) | |
7 | g.50544009C>A | CA367532060 | DDC | c.77G>T (p.Gly26Val) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.50544009C= | CA1706653906 | DDC | c.77G= (p.Gly26=) | |
7 | g.50544009C>G | CA367532059 | DDC | c.77G>C (p.Gly26Ala) | |
7 | g.50544009C>T | CA367532062 | DDC | c.77G>A (p.Gly26Glu) | dbSNP gnomAD v4 |
7 | g.50544010C>A | CA367532065 | DDC | c.76G>T (p.Gly26Ter) | |
7 | g.50544010C>G | CA367532067 | DDC | c.76G>C (p.Gly26Arg) | |
7 | g.50544010C>T | CA367532069 | DDC | c.76G>A (p.Gly26Arg) | gnomAD v4 |
7 | g.50544011C>A | CA367532072 | DDC | c.75G>T (p.Glu25Asp) | |
7 | g.50544011C= | CA1706653907 | DDC | c.75G= (p.Glu25=) | |
7 | g.50544011C>G | CA367532074 | DDC | c.75G>C (p.Glu25Asp) | |
7 | g.50544011C>T | CA454943516 | DDC | c.75G>A (p.Glu25=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.50544012T>A | CA367532075 | DDC | c.74A>T (p.Glu25Val) | |
7 | g.50544012T>C | CA367532076 | DDC | c.74A>G (p.Glu25Gly) | |
7 | g.50544012T>G | CA367532077 | DDC | c.74A>C (p.Glu25Ala) | |
7 | g.50544013C>A | CA367532080 | DDC | c.73G>T (p.Glu25Ter) | |
7 | g.50544013C= | CA1706653908 | DDC | c.73G= (p.Glu25=) | |
7 | g.50544013C>G | CA367532081 | DDC | c.73G>C (p.Glu25Gln) | |
7 | g.50544013C>T | CA4262511 | DDC | c.73G>A (p.Glu25Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.50544014A= | CA1706653909 | DDC | c.72T= (p.Ile24=) | |
7 | g.50544014A>C | CA367532084 | DDC | c.72T>G (p.Ile24Met) | |
7 | g.50544014A>G | CA454943521 | DDC | c.72T>C (p.Ile24=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50544014A>T | CA454943520 | DDC | c.72T>A (p.Ile24=) | |
7 | g.50544015dup | CA2682813289 | DDC | c.72dup (p.Glu25Ter) | gnomAD v4 |
7 | g.50544015A= | CA1706653910 | DDC | c.71T= (p.Ile24=) | |
7 | g.50544015A>C | CA367532089 | DDC | c.71T>G (p.Ile24Ser) | |
7 | g.50544015A>G | CA367532085 | DDC | c.71T>C (p.Ile24Thr) | ClinVar dbSNP gnomAD v4 |
7 | g.50544015A>T | CA367532087 | DDC | c.71T>A (p.Ile24Asn) | |
7 | g.50544016T>A | CA367532091 | DDC | c.70A>T (p.Ile24Phe) | |
7 | g.50544016T>C | CA367532092 | DDC | c.70A>G (p.Ile24Val) | |
7 | g.50544016T>G | CA367532094 | DDC | c.70A>C (p.Ile24Leu) | |
7 | g.50544017G>A | CA454943522 | DDC | c.69C>T (p.Gly23=) | |
7 | g.50544017G>C | CA454943524 | DDC | c.69C>G (p.Gly23=) | |
7 | g.50544017G>T | CA454943526 | DDC | c.69C>A (p.Gly23=) | |
7 | g.50544018C>A | CA367532096 | DDC | c.68G>T (p.Gly23Val) | ClinVar gnomAD v4 |
7 | g.50544018C= | CA1706653911 | DDC | c.68G= (p.Gly23=) | |
7 | g.50544018C>G | CA367532099 | DDC | c.68G>C (p.Gly23Ala) | |
7 | g.50544018C>T | CA367532101 | DDC | c.68G>A (p.Gly23Asp) | ClinVar dbSNP gnomAD v4 |
7 | g.50544019C>A | CA367532102 | DDC | c.67G>T (p.Gly23Cys) | |
7 | g.50544019C>G | CA367532104 | DDC | c.67G>C (p.Gly23Arg) | |
7 | g.50544019C>T | CA367532106 | DDC | c.67G>A (p.Gly23Ser) | |
7 | g.50544020T>A | CA367532108 | DDC | c.66A>T (p.Glu22Asp) | |
7 | g.50544020T>C | CA454943528 | DDC | c.66A>G (p.Glu22=) | |
7 | g.50544020T>G | CA367532110 | DDC | c.66A>C (p.Glu22Asp) | |
7 | g.50544021T>A | CA367532117 | DDC | c.65A>T (p.Glu22Val) | |
7 | g.50544021T>C | CA367532115 | DDC | c.65A>G (p.Glu22Gly) | |
7 | g.50544021T>G | CA367532112 | DDC | c.65A>C (p.Glu22Ala) | |
7 | g.50544022C>A | CA367532119 | DDC | c.64G>T (p.Glu22Ter) | |
7 | g.50544022C>G | CA367532121 | DDC | c.64G>C (p.Glu22Gln) | |
7 | g.50544022C>T | CA367532123 | DDC | c.64G>A (p.Glu22Lys) | |
7 | g.50544023C>A | CA367532126 | DDC | c.63G>T (p.Met21Ile) | |
7 | g.50544023C>G | CA367532128 | DDC | c.63G>C (p.Met21Ile) | |
7 | g.50544023C>T | CA367532130 | DDC | c.63G>A (p.Met21Ile) | |
7 | g.50544024A= | CA1706653912 | DDC | c.62T= (p.Met21=) | |
7 | g.50544024A>C | CA367532136 | DDC | c.62T>G (p.Met21Arg) | |
7 | g.50544024A>G | CA158234573 | DDC | c.62T>C (p.Met21Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50544024A>T | CA367532133 | DDC | c.62T>A (p.Met21Lys) | |
7 | g.50544025T>A | CA367532139 | DDC | c.61A>T (p.Met21Leu) | |
7 | g.50544025T>C | CA158234574 | DDC | c.61A>G (p.Met21Val) | ClinVar dbSNP gnomAD v4 |
7 | g.50544025T>G | CA367532142 | DDC | c.61A>C (p.Met21Leu) | |
7 | g.50544025T= | CA1706653913 | DDC | c.61A= (p.Met21=) | |
7 | g.50544026G>A | CA454943531 | DDC | c.60C>T (p.Tyr20=) | gnomAD v4 |
7 | g.50544026G>C | CA367532144 | DDC | c.60C>G (p.Tyr20Ter) | |
7 | g.50544026G>T | CA367532146 | DDC | c.60C>A (p.Tyr20Ter) | |
7 | g.50544028_50544030del | CA2695207782 | DDC | c.58_60del (p.Tyr20del) | |
7 | g.50544027T>A | CA367532149 | DDC | c.59A>T (p.Tyr20Phe) | |
7 | g.50544027T>C | CA367532153 | DDC | c.59A>G (p.Tyr20Cys) | gnomAD v4 |
7 | g.50544027T>G | CA367532151 | DDC | c.59A>C (p.Tyr20Ser) | |
7 | g.50544028A= | CA1706653914 | DDC | c.58T= (p.Tyr20=) | |
7 | g.50544028A>C | CA367532155 | DDC | c.58T>G (p.Tyr20Asp) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.50544028A>G | CA367532156 | DDC | c.58T>C (p.Tyr20His) | |
7 | g.50544028A>T | CA367532159 | DDC | c.58T>A (p.Tyr20Asn) | |
7 | g.50544029G>A | CA454943535 | DDC | c.57C>T (p.Asn19=) | |
7 | g.50544029G>C | CA367532161 | DDC | c.57C>G (p.Asn19Lys) | |
7 | g.50544029G= | CA1706653915 | DDC | c.57C= (p.Asn19=) | |
7 | g.50544029G>T | CA367532163 | DDC | c.57C>A (p.Asn19Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50544030T>A | CA367532165 | DDC | c.56A>T (p.Asn19Ile) | |
7 | g.50544030T>C | CA367532168 | DDC | c.56A>G (p.Asn19Ser) | gnomAD v4 COSMIC COSMIC |
7 | g.50544030T>G | CA367532170 | DDC | c.56A>C (p.Asn19Thr) | |
7 | g.50544031T>A | CA367532172 | DDC | c.55A>T (p.Asn19Tyr) | |
7 | g.50544031T>C | CA367532174 | DDC | c.55A>G (p.Asn19Asp) | |
7 | g.50544031T>G | CA367532176 | DDC | c.55A>C (p.Asn19His) | |
7 | g.50544032G>A | CA454943539 | DDC | c.54C>T (p.Ala18=) | |
7 | g.50544032G>C | CA454943540 | DDC | c.54C>G (p.Ala18=) | |
7 | g.50544032G>T | CA454943541 | DDC | c.54C>A (p.Ala18=) | |
7 | g.50544033del | CA2682813290 | DDC | c.54del (p.Asn19ThrfsTer23) c.54del (p.Asn19ThrfsTer?) | gnomAD v4 |
7 | g.50544033G>A | CA367532180 | DDC | c.53C>T (p.Ala18Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.50544033G>C | CA367532183 | DDC | c.53C>G (p.Ala18Gly) | |
7 | g.50544033G= | CA1706653916 | DDC | c.53C= (p.Ala18=) | |
7 | g.50544033G>T | CA367532178 | DDC | c.53C>A (p.Ala18Asp) | |
7 | g.50544034C>A | CA367532190 | DDC | c.52G>T (p.Ala18Ser) | |
7 | g.50544034C= | CA1706653917 | DDC | c.52G= (p.Ala18=) | |
7 | g.50544034C>G | CA367532186 | DDC | c.52G>C (p.Ala18Pro) | |
7 | g.50544034C>T | CA367532188 | DDC | c.52G>A (p.Ala18Thr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.50544035C>A | CA367532192 | DDC | c.51G>T (p.Met17Ile) c.51G>T (p.Val17=) | |
7 | g.50544035C>G | CA367532195 | DDC | c.51G>C (p.Met17Ile) c.51G>C (p.Val17=) | |
7 | g.50544035C>T | CA367532196 | DDC | c.51G>A (p.Met17Ile) c.51G>A (p.Val17=) | |
7 | g.50544036A>C | CA367532203 | DDC | c.50T>G (p.Met17Arg) c.50T>G (p.Val17Gly) | |
7 | g.50544036A>G | CA367532201 | DDC | c.50T>C (p.Met17Thr) c.50T>C (p.Val17Ala) | |
7 | g.50544036A>T | CA367532199 | DDC | c.50T>A (p.Met17Lys) c.50T>A (p.Val17Glu) | |
7 | g.50544037T>A | CA367532206 | DDC | c.49A>T (p.Met17Leu) | |
7 | g.50544037T>C | CA4262512 | DDC | c.49A>G (p.Met17Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50544037T>G | CA367532209 | DDC | c.49A>C (p.Met17Leu) | |
7 | g.50544037T= | CA1706653918 | DDC | c.49A= (p.Met17=) | |
7 | g.50544037_50544038delinsCA | CA2573142191 | DDC | c.48_49delinsTG (p.Met17Val) | |
7 | g.50544037_50544038delinsCT | CA2573142190 | DDC | c.48_49delinsAG (p.Tyr16Ter) | ClinVar dbSNP |
7 | g.50544038G>A | CA4262513 | DDC | c.48C>T (p.Tyr16=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.50544038G>C | CA4262514 | DDC | c.48C>G (p.Tyr16Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.50544038G= | CA1706653919 | DDC | c.48C= (p.Tyr16=) | |
7 | g.50544038G>T | CA367532214 | DDC | c.48C>A (p.Tyr16Ter) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.50544040_50544041insGTTGGCCACGTA | CA2714495649 | DDC | c.48_49insGTGGCCAACTAC (p.Tyr16_Met17insValAlaAsnTyr) c.48_49insGTGGCCAACTAC (p.Tyr16_Val17insValAlaAsnTyr) | dbSNP |
7 | g.50544039T>A | CA367532217 | DDC | c.47A>T (p.Tyr16Phe) | |
7 | g.50544039T>C | CA367532221 | DDC | c.47A>G (p.Tyr16Cys) | |
7 | g.50544039T>G | CA367532219 | DDC | c.47A>C (p.Tyr16Ser) | |
7 | g.50544040A>C | CA367532223 | DDC | c.46T>G (p.Tyr16Asp) | |
7 | g.50544040A>G | CA367532226 | DDC | c.46T>C (p.Tyr16His) | |
7 | g.50544040A>T | CA367532228 | DDC | c.46T>A (p.Tyr16Asn) | |
7 | g.50544041del | CA2775390652 | DDC | c.46del (p.Tyr16ThrfsTer26) c.46del (p.Tyr16ThrfsTer?) | |
7 | g.50544041A>C | CA367532231 | DDC | c.45T>G (p.Asp15Glu) | |
7 | g.50544041A>G | CA454943543 | DDC | c.45T>C (p.Asp15=) | |
7 | g.50544041A>T | CA367532233 | DDC | c.45T>A (p.Asp15Glu) | |
7 | g.50544042T>A | CA367532236 | DDC | c.44A>T (p.Asp15Val) | |
7 | g.50544042T>C | CA367532237 | DDC | c.44A>G (p.Asp15Gly) | |
7 | g.50544042T>G | CA367532238 | DDC | c.44A>C (p.Asp15Ala) | |
7 | g.50544043C>A | CA367532239 | DDC | c.43G>T (p.Asp15Tyr) | |
7 | g.50544043C= | CA1706653920 | DDC | c.43G= (p.Asp15=) | |
7 | g.50544043C>G | CA367532241 | DDC | c.43G>C (p.Asp15His) | |
7 | g.50544043C>T | CA4262515 | DDC | c.43G>A (p.Asp15Asn) | dbSNP ExAC gnomAD v2 |
7 | g.50544046_50544048dup | CA2682813291 | DDC | c.41_43dup (p.Val14_Asp15insVal) | gnomAD v4 |
7 | g.50544044C>A | CA454943544 | DDC | c.42G>T (p.Val14=) | |
7 | g.50544044C= | CA1706653921 | DDC | c.42G= (p.Val14=) | |
7 | g.50544044C>G | CA454943545 | DDC | c.42G>C (p.Val14=) | |
7 | g.50544044C>T | CA454943546 | DDC | c.42G>A (p.Val14=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
7 | g.50544045A>C | CA367532248 | DDC | c.41T>G (p.Val14Gly) | |
7 | g.50544045A>G | CA367532247 | DDC | c.41T>C (p.Val14Ala) | |
7 | g.50544045A>T | CA367532245 | DDC | c.41T>A (p.Val14Glu) |