6 | g.7579311C>A | CA362683025 | DSP | c.3121C>A (p.Leu1041Ile)
| gnomAD v4 |
6 | g.7579311C= | CA1608613495 | DSP | c.3121C= (p.Leu1041=)
| |
6 | g.7579311C>G | CA362683026 | DSP | c.3121C>G (p.Leu1041Val)
| |
6 | g.7579311C>T | CA362683028 | DSP | c.3121C>T (p.Leu1041Phe)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.7579312T>A | CA362683029 | DSP | c.3122T>A (p.Leu1041His)
| |
6 | g.7579312T>C | CA362683030 | DSP | c.3122T>C (p.Leu1041Pro)
| |
6 | g.7579312T>G | CA362683032 | DSP | c.3122T>G (p.Leu1041Arg)
| |
6 | g.7579313C>A | CA448714102 | DSP | c.3123C>A (p.Leu1041=)
| |
6 | g.7579313C= | CA1608613507 | DSP | c.3123C= (p.Leu1041=)
| |
6 | g.7579313C>G | CA448714105 | DSP | c.3123C>G (p.Leu1041=)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.7579313C>T | CA005735 | DSP | c.3123C>T (p.Leu1041=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579314A>C | CA448714108 | DSP | c.3124A>C (p.Arg1042=)
| |
6 | g.7579314A>G | CA362683035 | DSP | c.3124A>G (p.Arg1042Gly)
| |
6 | g.7579314A>T | CA362683036 | DSP | c.3124A>T (p.Arg1042Ter)
| |
6 | g.7579315G>A | CA362683039 | DSP | c.3125G>A (p.Arg1042Lys)
| |
6 | g.7579315G>C | CA362683040 | DSP | c.3125G>C (p.Arg1042Thr)
| |
6 | g.7579315G>T | CA362683042 | DSP | c.3125G>T (p.Arg1042Ile)
| |
6 | g.7579315_7579317delinsGAC | CA1608613510 | DSP | c.3125_3127delinsGAC (p.Arg1042=)
| |
6 | g.7579316del | CA2740094252 | DSP | c.3126del (p.Arg1042SerfsTer?)
| ClinVar |
6 | g.7579316A>C | CA362683046 | DSP | c.3126A>C (p.Arg1042Ser)
| |
6 | g.7579316A>G | CA448714110 | DSP | c.3126A>G (p.Arg1042=)
| |
6 | g.7579316A>T | CA362683044 | DSP | c.3126A>T (p.Arg1042Ser)
| gnomAD v4 |
6 | g.7579316_7579317delinsT | CA891843110 | DSP | c.3126_3127delinsT (p.Arg1042SerfsTer?)
| ClinVar dbSNP |
6 | g.7579317C>A | CA362683047 | DSP | c.3127C>A (p.Leu1043Met)
| gnomAD v4 |
6 | g.7579317C= | CA1608613521 | DSP | c.3127C= (p.Leu1043=)
| |
6 | g.7579317C>G | CA362683049 | DSP | c.3127C>G (p.Leu1043Val)
| |
6 | g.7579317C>T | CA448714112 | DSP | c.3127C>T (p.Leu1043=)
| ClinVar dbSNP |
6 | g.7579317_7579318insCAATGTGCAT | CA1608613526 | DSP | c.3127_3128insCAATGTGCAT (p.Leu1043ProfsTer14)
| dbSNP |
6 | g.7579318T>A | CA362683051 | DSP | c.3128T>A (p.Leu1043Gln)
| |
6 | g.7579318T>C | CA362683053 | DSP | c.3128T>C (p.Leu1043Pro)
| |
6 | g.7579318T>G | CA362683054 | DSP | c.3128T>G (p.Leu1043Arg)
| |
6 | g.7579319G>A | CA448714113 | DSP | c.3129G>A (p.Leu1043=)
| gnomAD v4 |
6 | g.7579319G>C | CA448714116 | DSP | c.3129G>C (p.Leu1043=)
| |
6 | g.7579319G>T | CA448714115 | DSP | c.3129G>T (p.Leu1043=)
| |
6 | g.7579319_7579320insTCTCTTCAGCTCCTCCAGGCTCGCAAGCTTCGCTTT | CA2769904230 | DSP | c.3129_3130insTCTCTTCAGCTCCTCCAGGCTCGCAAGCTTCGCTTT (p.Leu1043_Ala1044insSerLeuGlnLeuLeuGlnAlaArgLysLeuArgPhe)
| |
6 | g.7579320G>A | CA362683056 | DSP | c.3130G>A (p.Ala1044Thr)
| |
6 | g.7579320G>C | CA362683058 | DSP | c.3130G>C (p.Ala1044Pro)
| |
6 | g.7579320G>T | CA362683059 | DSP | c.3130G>T (p.Ala1044Ser)
| |
6 | g.7579321C>A | CA362683061 | DSP | c.3131C>A (p.Ala1044Asp)
| |
6 | g.7579321C= | CA1608613533 | DSP | c.3131C= (p.Ala1044=)
| |
6 | g.7579321C>G | CA362683063 | DSP | c.3131C>G (p.Ala1044Gly)
| |
6 | g.7579321C>T | CA037206 | DSP | c.3131C>T (p.Ala1044Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7579322C>A | CA448714119 | DSP | c.3132C>A (p.Ala1044=)
| dbSNP |
6 | g.7579322C>G | CA448714121 | DSP | c.3132C>G (p.Ala1044=)
| |
6 | g.7579322C>T | CA448714123 | DSP | c.3132C>T (p.Ala1044=)
| |
6 | g.7579323C>A | CA448714126 | DSP | c.3133C>A (p.Arg1045=)
| |
6 | g.7579323C= | CA1608613541 | DSP | c.3133C= (p.Arg1045=)
| |
6 | g.7579323C>G | CA362683066 | DSP | c.3133C>G (p.Arg1045Gly)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.7579323C>T | CA362683067 | DSP | c.3133C>T (p.Arg1045Ter)
| ClinVar dbSNP gnomAD v4 |
6 | g.7579324G>A | CA037219 | DSP | c.3134G>A (p.Arg1045Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.7579324G>C | CA005742 | DSP | c.3134G>C (p.Arg1045Pro)
| ClinVar dbSNP |
6 | g.7579324G= | CA1608613552 | DSP | c.3134G= (p.Arg1045=)
| |
6 | g.7579324G>T | CA362683069 | DSP | c.3134G>T (p.Arg1045Leu)
| |
6 | g.7579325A= | CA1608613555 | DSP | c.3135A= (p.Arg1045=)
| |
6 | g.7579325A>C | CA448714128 | DSP | c.3135A>C (p.Arg1045=)
| |
6 | g.7579325A>G | CA448714129 | DSP | c.3135A>G (p.Arg1045=)
| dbSNP |
6 | g.7579325A>T | CA448714130 | DSP | c.3135A>T (p.Arg1045=)
| |
6 | g.7579326G>A | CA362683072 | DSP | c.3136G>A (p.Asp1046Asn)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.7579326G>C | CA362683075 | DSP | c.3136G>C (p.Asp1046His)
| gnomAD v4 |
6 | g.7579326G= | CA1608613577 | DSP | c.3136G= (p.Asp1046=)
| |
6 | g.7579326G>T | CA362683074 | DSP | c.3136G>T (p.Asp1046Tyr)
| dbSNP |
6 | g.7579327A= | CA1608613584 | DSP | c.3137A= (p.Asp1046=)
| |
6 | g.7579327A>C | CA362683077 | DSP | c.3137A>C (p.Asp1046Ala)
| |
6 | g.7579327A>G | CA037234 | DSP | c.3137A>G (p.Asp1046Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7579327A>T | CA037256 | DSP | c.3137A>T (p.Asp1046Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7579328T>A | CA362683081 | DSP | c.3138T>A (p.Asp1046Glu)
| |
6 | g.7579328T>C | CA10584678 | DSP | c.3138T>C (p.Asp1046=)
| ClinVar dbSNP gnomAD v4 |
6 | g.7579328T>G | CA362683083 | DSP | c.3138T>G (p.Asp1046Glu)
| |
6 | g.7579328T= | CA1608613590 | DSP | c.3138T= (p.Asp1046=)
| |
6 | g.7579329G>A | CA362683084 | DSP | c.3139G>A (p.Ala1047Thr)
| |
6 | g.7579329G>C | CA362683085 | DSP | c.3139G>C (p.Ala1047Pro)
| ClinVar dbSNP |
6 | g.7579329G>T | CA362683087 | DSP | c.3139G>T (p.Ala1047Ser)
| |
6 | g.7579330C>A | CA362683089 | DSP | c.3140C>A (p.Ala1047Asp)
| |
6 | g.7579330C= | CA1608613602 | DSP | c.3140C= (p.Ala1047=)
| |
6 | g.7579330C>G | CA362683090 | DSP | c.3140C>G (p.Ala1047Gly)
| |
6 | g.7579330C>T | CA005749 | DSP | c.3140C>T (p.Ala1047Val)
| ClinVar dbSNP gnomAD v4 |
6 | g.7579331C>A | CA448714136 | DSP | c.3141C>A (p.Ala1047=)
| |
6 | g.7579331C= | CA1608613605 | DSP | c.3141C= (p.Ala1047=)
| |
6 | g.7579331C>G | CA448714137 | DSP | c.3141C>G (p.Ala1047=)
| |
6 | g.7579331C>T | CA448714138 | DSP | c.3141C>T (p.Ala1047=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579332A>C | CA362683096 | DSP | c.3142A>C (p.Asn1048His)
| |
6 | g.7579332A>G | CA362683092 | DSP | c.3142A>G (p.Asn1048Asp)
| |
6 | g.7579332A>T | CA362683094 | DSP | c.3142A>T (p.Asn1048Tyr)
| |
6 | g.7579333A>C | CA362683097 | DSP | c.3143A>C (p.Asn1048Thr)
| |
6 | g.7579333A>G | CA362683099 | DSP | c.3143A>G (p.Asn1048Ser)
| |
6 | g.7579333A>T | CA362683100 | DSP | c.3143A>T (p.Asn1048Ile)
| |
6 | g.7579334C>A | CA362683101 | DSP | c.3144C>A (p.Asn1048Lys)
| |
6 | g.7579334C= | CA1608613611 | DSP | c.3144C= (p.Asn1048=)
| |
6 | g.7579334C>G | CA362683102 | DSP | c.3144C>G (p.Asn1048Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579334C>T | CA448714143 | DSP | c.3144C>T (p.Asn1048=)
| |
6 | g.7579335T>A | CA362683104 | DSP | c.3145T>A (p.Ser1049Thr)
| |
6 | g.7579335T>C | CA362683105 | DSP | c.3145T>C (p.Ser1049Pro)
| |
6 | g.7579335T>G | CA362683106 | DSP | c.3145T>G (p.Ser1049Ala)
| |
6 | g.7579336C>A | CA362683108 | DSP | c.3146C>A (p.Ser1049Ter)
| gnomAD v4 |
6 | g.7579336C= | CA1608613622 | DSP | c.3146C= (p.Ser1049=)
| |
6 | g.7579336C>G | CA037279 | DSP | c.3146C>G (p.Ser1049Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7579336C>T | CA037298 | DSP | c.3146C>T (p.Ser1049Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579337G>A | CA037319 | DSP | c.3147G>A (p.Ser1049=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579337G>C | CA448714148 | DSP | c.3147G>C (p.Ser1049=)
| |
6 | g.7579337G= | CA1608613629 | DSP | c.3147G= (p.Ser1049=)
| |
6 | g.7579337G>T | CA448714150 | DSP | c.3147G>T (p.Ser1049=)
| |
6 | g.7579338G>A | CA362683114 | DSP | c.3148G>A (p.Glu1050Lys)
| |
6 | g.7579338G>C | CA362683112 | DSP | c.3148G>C (p.Glu1050Gln)
| |
6 | g.7579338G>T | CA362683113 | DSP | c.3148G>T (p.Glu1050Ter)
| |
6 | g.7579339A>C | CA362683117 | DSP | c.3149A>C (p.Glu1050Ala)
| |
6 | g.7579339A>G | CA362683119 | DSP | c.3149A>G (p.Glu1050Gly)
| |
6 | g.7579339A>T | CA362683120 | DSP | c.3149A>T (p.Glu1050Val)
| |
6 | g.7579340A>C | CA362683122 | DSP | c.3150A>C (p.Glu1050Asp)
| |
6 | g.7579340A>G | CA448714190 | DSP | c.3150A>G (p.Glu1050=)
| |
6 | g.7579340A>T | CA362683123 | DSP | c.3150A>T (p.Glu1050Asp)
| |
6 | g.7579341A>C | CA362683125 | DSP | c.3151A>C (p.Asn1051His)
| |
6 | g.7579341A>G | CA362683126 | DSP | c.3151A>G (p.Asn1051Asp)
| |
6 | g.7579341A>T | CA362683128 | DSP | c.3151A>T (p.Asn1051Tyr)
| |
6 | g.7579342A>C | CA362683129 | DSP | c.3152A>C (p.Asn1051Thr)
| |
6 | g.7579342A>G | CA362683130 | DSP | c.3152A>G (p.Asn1051Ser)
| gnomAD v4 |
6 | g.7579342A>T | CA362683131 | DSP | c.3152A>T (p.Asn1051Ile)
| |
6 | g.7579343C>A | CA362683135 | DSP | c.3153C>A (p.Asn1051Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579343C= | CA1608613643 | DSP | c.3153C= (p.Asn1051=)
| |
6 | g.7579343C>G | CA362683133 | DSP | c.3153C>G (p.Asn1051Lys)
| |
6 | g.7579343C>T | CA005756 | DSP | c.3153C>T (p.Asn1051=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579344T>A | CA362683136 | DSP | c.3154T>A (p.Cys1052Ser)
| |
6 | g.7579344T>C | CA362683137 | DSP | c.3154T>C (p.Cys1052Arg)
| gnomAD v4 |
6 | g.7579344T>G | CA362683139 | DSP | c.3154T>G (p.Cys1052Gly)
| |
6 | g.7579345G>A | CA362683140 | DSP | c.3155G>A (p.Cys1052Tyr)
| gnomAD v4 |
6 | g.7579345G>C | CA362683142 | DSP | c.3155G>C (p.Cys1052Ser)
| |
6 | g.7579345G>T | CA362683143 | DSP | c.3155G>T (p.Cys1052Phe)
| ClinVar dbSNP |
6 | g.7579346T>A | CA362683145 | DSP | c.3156T>A (p.Cys1052Ter)
| |
6 | g.7579346T>C | CA448714193 | DSP | c.3156T>C (p.Cys1052=)
| gnomAD v4 |
6 | g.7579346T>G | CA362683147 | DSP | c.3156T>G (p.Cys1052Trp)
| |
6 | g.7579346_7579356delinsTAATAAGAACA | CA1608613652 | DSP | c.3156_3166delinsTAATAAGAACA (p.Cys1052=)
| |
6 | g.7579347A= | CA1608613658 | DSP | c.3157A= (p.Asn1053=)
| |
6 | g.7579347A>C | CA362683149 | DSP | c.3157A>C (p.Asn1053His)
| |
6 | g.7579347A>G | CA362683151 | DSP | c.3157A>G (p.Asn1053Asp)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.7579347A>T | CA362683152 | DSP | c.3157A>T (p.Asn1053Tyr)
| |
6 | g.7579350_7579359del | CA005763 | DSP | c.3160_3169del (p.Lys1054SerfsTer26)
| ClinVar dbSNP |
6 | g.7579348A>C | CA362683158 | DSP | c.3158A>C (p.Asn1053Thr)
| |
6 | g.7579348A>G | CA362683157 | DSP | c.3158A>G (p.Asn1053Ser)
| gnomAD v4 |
6 | g.7579348A>T | CA362683155 | DSP | c.3158A>T (p.Asn1053Ile)
| |
6 | g.7579349T>A | CA362683160 | DSP | c.3159T>A (p.Asn1053Lys)
| |
6 | g.7579349T>C | CA448714194 | DSP | c.3159T>C (p.Asn1053=)
| |
6 | g.7579349T>G | CA362683161 | DSP | c.3159T>G (p.Asn1053Lys)
| |
6 | g.7579349_7579352delinsTAAG | CA1608613661 | DSP | c.3159_3162delinsTAAG (p.Asn1053=)
| |
6 | g.7579350A= | CA1608613666 | DSP | c.3160A= (p.Lys1054=)
| |
6 | g.7579350A>C | CA362683163 | DSP | c.3160A>C (p.Lys1054Gln)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.7579350A>G | CA362683162 | DSP | c.3160A>G (p.Lys1054Glu)
| |
6 | g.7579350A>T | CA362683164 | DSP | c.3160A>T (p.Lys1054Ter)
| |
6 | g.7579352_7579354del | CA1608613665 | DSP | c.3162_3164del (p.Lys1054del)
| ClinVar dbSNP gnomAD v4 |
6 | g.7579351A>C | CA362683165 | DSP | c.3161A>C (p.Lys1054Thr)
| |
6 | g.7579351A>G | CA362683166 | DSP | c.3161A>G (p.Lys1054Arg)
| |
6 | g.7579351A>T | CA362683167 | DSP | c.3161A>T (p.Lys1054Met)
| |
6 | g.7579352G>A | CA037377 | DSP | c.3162G>A (p.Lys1054=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.7579352G>C | CA362683172 | DSP | c.3162G>C (p.Lys1054Asn)
| gnomAD v4 |
6 | g.7579352G= | CA1608613670 | DSP | c.3162G= (p.Lys1054=)
| |
6 | g.7579352G>T | CA362683173 | DSP | c.3162G>T (p.Lys1054Asn)
| |
6 | g.7579353A>C | CA362683176 | DSP | c.3163A>C (p.Asn1055His)
| |
6 | g.7579353A>G | CA362683178 | DSP | c.3163A>G (p.Asn1055Asp)
| ClinVar |
6 | g.7579353A>T | CA362683179 | DSP | c.3163A>T (p.Asn1055Tyr)
| COSMIC |
6 | g.7579354A>C | CA362683181 | DSP | c.3164A>C (p.Asn1055Thr)
| |
6 | g.7579354A>G | CA362683183 | DSP | c.3164A>G (p.Asn1055Ser)
| |
6 | g.7579354A>T | CA362683184 | DSP | c.3164A>T (p.Asn1055Ile)
| |
6 | g.7579355del | CA2573140790 | DSP | c.3165del (p.Asn1055LysfsTer28)
| ClinVar dbSNP |
6 | g.7579355C>A | CA362683185 | DSP | c.3165C>A (p.Asn1055Lys)
| |
6 | g.7579355C>G | CA362683186 | DSP | c.3165C>G (p.Asn1055Lys)
| COSMIC |
6 | g.7579355C>T | CA448714197 | DSP | c.3165C>T (p.Asn1055=)
| |
6 | g.7579356A>C | CA362683187 | DSP | c.3166A>C (p.Lys1056Gln)
| ClinVar |
6 | g.7579356A>G | CA362683189 | DSP | c.3166A>G (p.Lys1056Glu)
| |
6 | g.7579356A>T | CA362683190 | DSP | c.3166A>T (p.Lys1056Ter)
| |
6 | g.7579357A= | CA1608613674 | DSP | c.3167A= (p.Lys1056=)
| |
6 | g.7579357A>C | CA362683193 | DSP | c.3167A>C (p.Lys1056Thr)
| ClinVar |
6 | g.7579357A>G | CA037391 | DSP | c.3167A>G (p.Lys1056Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579357A>T | CA362683196 | DSP | c.3167A>T (p.Lys1056Ile)
| |
6 | g.7579358A>C | CA362683198 | DSP | c.3168A>C (p.Lys1056Asn)
| |
6 | g.7579358A>G | CA448714200 | DSP | c.3168A>G (p.Lys1056=)
| |
6 | g.7579358A>T | CA362683199 | DSP | c.3168A>T (p.Lys1056Asn)
| |
6 | g.7579359T>A | CA362683201 | DSP | c.3169T>A (p.Phe1057Ile)
| |
6 | g.7579359T>C | CA362683206 | DSP | c.3169T>C (p.Phe1057Leu)
| |
6 | g.7579359T>G | CA362683207 | DSP | c.3169T>G (p.Phe1057Val)
| |
6 | g.7579360T>A | CA362683209 | DSP | c.3170T>A (p.Phe1057Tyr)
| |
6 | g.7579360T>C | CA362683210 | DSP | c.3170T>C (p.Phe1057Ser)
| |
6 | g.7579360T>G | CA362683208 | DSP | c.3170T>G (p.Phe1057Cys)
| |
6 | g.7579361C>A | CA362683211 | DSP | c.3171C>A (p.Phe1057Leu)
| |
6 | g.7579361C>G | CA362683212 | DSP | c.3171C>G (p.Phe1057Leu)
| |
6 | g.7579361C>T | CA448714203 | DSP | c.3171C>T (p.Phe1057=)
| gnomAD v4 |
6 | g.7579362C>A | CA362683213 | DSP | c.3172C>A (p.Leu1058Met)
| |
6 | g.7579362C>G | CA362683214 | DSP | c.3172C>G (p.Leu1058Val)
| ClinVar |
6 | g.7579362C>T | CA448714204 | DSP | c.3172C>T (p.Leu1058=)
| gnomAD v4 |
6 | g.7579363T>A | CA362683215 | DSP | c.3173T>A (p.Leu1058Gln)
| |
6 | g.7579363T>C | CA362683216 | DSP | c.3173T>C (p.Leu1058Pro)
| |
6 | g.7579363T>G | CA362683217 | DSP | c.3173T>G (p.Leu1058Arg)
| |
6 | g.7579364G>A | CA448714205 | DSP | c.3174G>A (p.Leu1058=)
| |
6 | g.7579364G>C | CA448714206 | DSP | c.3174G>C (p.Leu1058=)
| |
6 | g.7579364G>T | CA448714207 | DSP | c.3174G>T (p.Leu1058=)
| |
6 | g.7579365G>A | CA362683218 | DSP | c.3175G>A (p.Asp1059Asn)
| |
6 | g.7579365G>C | CA362683219 | DSP | c.3175G>C (p.Asp1059His)
| |
6 | g.7579365G>T | CA362683220 | DSP | c.3175G>T (p.Asp1059Tyr)
| |
6 | g.7579366A>C | CA362683221 | DSP | c.3176A>C (p.Asp1059Ala)
| |
6 | g.7579366A>G | CA362683222 | DSP | c.3176A>G (p.Asp1059Gly)
| |
6 | g.7579366A>T | CA362683223 | DSP | c.3176A>T (p.Asp1059Val)
| |
6 | g.7579367T>A | CA362683225 | DSP | c.3177T>A (p.Asp1059Glu)
| |
6 | g.7579367T>C | CA448714208 | DSP | c.3177T>C (p.Asp1059=)
| |
6 | g.7579367T>G | CA362683224 | DSP | c.3177T>G (p.Asp1059Glu)
| |
6 | g.7579368C>A | CA362683226 | DSP | c.3178C>A (p.Gln1060Lys)
| |
6 | g.7579368C>G | CA362683227 | DSP | c.3178C>G (p.Gln1060Glu)
| |
6 | g.7579368C>T | CA362683228 | DSP | c.3178C>T (p.Gln1060Ter)
| |
6 | g.7579369A>C | CA362683229 | DSP | c.3179A>C (p.Gln1060Pro)
| |
6 | g.7579369A>G | CA362683230 | DSP | c.3179A>G (p.Gln1060Arg)
| |
6 | g.7579369A>T | CA362683231 | DSP | c.3179A>T (p.Gln1060Leu)
| |
6 | g.7579370G>A | CA448714209 | DSP | c.3180G>A (p.Gln1060=)
| |
6 | g.7579370G>C | CA362683232 | DSP | c.3180G>C (p.Gln1060His)
| |
6 | g.7579370G>T | CA362683233 | DSP | c.3180G>T (p.Gln1060His)
| |
6 | g.7579371A>C | CA362683234 | DSP | c.3181A>C (p.Asn1061His)
| |
6 | g.7579371A>G | CA362683235 | DSP | c.3181A>G (p.Asn1061Asp)
| |
6 | g.7579371A>T | CA362683236 | DSP | c.3181A>T (p.Asn1061Tyr)
| |
6 | g.7579372A>C | CA362683237 | DSP | c.3182A>C (p.Asn1061Thr)
| |
6 | g.7579372A>G | CA362683238 | DSP | c.3182A>G (p.Asn1061Ser)
| |
6 | g.7579372A>T | CA362683239 | DSP | c.3182A>T (p.Asn1061Ile)
| |
6 | g.7579373C>A | CA362683240 | DSP | c.3183C>A (p.Asn1061Lys)
| |
6 | g.7579373C>G | CA362683241 | DSP | c.3183C>G (p.Asn1061Lys)
| |
6 | g.7579373C>T | CA448714210 | DSP | c.3183C>T (p.Asn1061=)
| |
6 | g.7579374C>A | CA362683242 | DSP | c.3184C>A (p.Leu1062Met)
| ClinVar dbSNP |
6 | g.7579374C>G | CA362683243 | DSP | c.3184C>G (p.Leu1062Val)
| |
6 | g.7579374C>T | CA448714211 | DSP | c.3184C>T (p.Leu1062=)
| gnomAD v4 |
6 | g.7579375T>A | CA362683244 | DSP | c.3185T>A (p.Leu1062Gln)
| |
6 | g.7579375T>C | CA362683245 | DSP | c.3185T>C (p.Leu1062Pro)
| |
6 | g.7579375T>G | CA362683246 | DSP | c.3185T>G (p.Leu1062Arg)
| |
6 | g.7579376G>A | CA448714212 | DSP | c.3186G>A (p.Leu1062=)
| |
6 | g.7579376G>C | CA448714214 | DSP | c.3186G>C (p.Leu1062=)
| |
6 | g.7579376G>T | CA448714213 | DSP | c.3186G>T (p.Leu1062=)
| ClinVar |
6 | g.7579377C>A | CA362683247 | DSP | c.3187C>A (p.Gln1063Lys)
| |
6 | g.7579377C>G | CA362683248 | DSP | c.3187C>G (p.Gln1063Glu)
| |
6 | g.7579377C>T | CA362683249 | DSP | c.3187C>T (p.Gln1063Ter)
| |
6 | g.7579378A>C | CA362683250 | DSP | c.3188A>C (p.Gln1063Pro)
| |
6 | g.7579378A>G | CA362683251 | DSP | c.3188A>G (p.Gln1063Arg)
| |
6 | g.7579378A>T | CA362683252 | DSP | c.3188A>T (p.Gln1063Leu)
| |
6 | g.7579379G>A | CA448714215 | DSP | c.3189G>A (p.Gln1063=)
| |
6 | g.7579379G>C | CA362683253 | DSP | c.3189G>C (p.Gln1063His)
| |
6 | g.7579379G>T | CA362683254 | DSP | c.3189G>T (p.Gln1063His)
| |
6 | g.7579379_7579380delinsGA | CA1608613678 | DSP | c.3189_3190delinsGA (p.Gln1063=)
| |
6 | g.7579380A= | CA1608613686 | DSP | c.3190A= (p.Lys1064=)
| |
6 | g.7579380A>C | CA362683257 | DSP | c.3190A>C (p.Lys1064Gln)
| |
6 | g.7579380A>G | CA362683256 | DSP | c.3190A>G (p.Lys1064Glu)
| ClinVar dbSNP |
6 | g.7579380A>T | CA362683255 | DSP | c.3190A>T (p.Lys1064Ter)
| |
6 | g.7579382dup | CA2499218555 | DSP | c.3192dup (p.Tyr1065IlefsTer23)
| ClinVar dbSNP |
6 | g.7579382del | CA133968091 | DSP | c.3192del (p.Lys1064AsnfsTer19)
| dbSNP |
6 | g.7579381A>C | CA362683258 | DSP | c.3191A>C (p.Lys1064Thr)
| |
6 | g.7579381A>G | CA362683259 | DSP | c.3191A>G (p.Lys1064Arg)
| |
6 | g.7579381A>T | CA362683260 | DSP | c.3191A>T (p.Lys1064Ile)
| |
6 | g.7579382A>C | CA362683261 | DSP | c.3192A>C (p.Lys1064Asn)
| |
6 | g.7579382A>G | CA448714218 | DSP | c.3192A>G (p.Lys1064=)
| |
6 | g.7579382A>T | CA362683262 | DSP | c.3192A>T (p.Lys1064Asn)
| |
6 | g.7579383T>A | CA362683265 | DSP | c.3193T>A (p.Tyr1065Asn)
| |
6 | g.7579383T>C | CA362683263 | DSP | c.3193T>C (p.Tyr1065His)
| |
6 | g.7579383T>G | CA362683264 | DSP | c.3193T>G (p.Tyr1065Asp)
| |
6 | g.7579384A= | CA1608613692 | DSP | c.3194A= (p.Tyr1065=)
| |
6 | g.7579384A>C | CA362683266 | DSP | c.3194A>C (p.Tyr1065Ser)
| |
6 | g.7579384A>G | CA362683267 | DSP | c.3194A>G (p.Tyr1065Cys)
| |
6 | g.7579384A>T | CA362683268 | DSP | c.3194A>T (p.Tyr1065Phe)
| ClinVar dbSNP |
6 | g.7579385C>A | CA362683269 | DSP | c.3195C>A (p.Tyr1065Ter)
| |
6 | g.7579385C= | CA1608613703 | DSP | c.3195C= (p.Tyr1065=)
| |
6 | g.7579385C>G | CA10587633 | DSP | c.3195C>G (p.Tyr1065Ter)
| ClinVar dbSNP gnomAD v4 |
6 | g.7579385C>T | CA448714220 | DSP | c.3195C>T (p.Tyr1065=)
| ClinVar gnomAD v4 |
6 | g.7579386C>A | CA362683270 | DSP | c.3196C>A (p.Gln1066Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.7579386C= | CA1608613710 | DSP | c.3196C= (p.Gln1066=)
| |
6 | g.7579386C>G | CA362683272 | DSP | c.3196C>G (p.Gln1066Glu)
| |
6 | g.7579386C>T | CA362683271 | DSP | c.3196C>T (p.Gln1066Ter)
| |
6 | g.7579387A= | CA1608613715 | DSP | c.3197A= (p.Gln1066=)
| |
6 | g.7579387A>C | CA362683273 | DSP | c.3197A>C (p.Gln1066Pro)
| |
6 | g.7579387A>G | CA362683274 | DSP | c.3197A>G (p.Gln1066Arg)
| dbSNP gnomAD v4 |
6 | g.7579387A>T | CA362683275 | DSP | c.3197A>T (p.Gln1066Leu)
| |
6 | g.7579388G>A | CA448714224 | DSP | c.3198G>A (p.Gln1066=)
| |
6 | g.7579388G>C | CA362683276 | DSP | c.3198G>C (p.Gln1066His)
| |
6 | g.7579388G>T | CA362683277 | DSP | c.3198G>T (p.Gln1066His)
| |
6 | g.7579389G>A | CA362683279 | DSP | c.3199G>A (p.Ala1067Thr)
| |
6 | g.7579389G>C | CA362683278 | DSP | c.3199G>C (p.Ala1067Pro)
| |
6 | g.7579389G= | CA1608613724 | DSP | c.3199G= (p.Ala1067=)
| |
6 | g.7579389G>T | CA005770 | DSP | c.3199G>T (p.Ala1067Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.7579390C>A | CA362683280 | DSP | c.3200C>A (p.Ala1067Glu)
| |
6 | g.7579390C= | CA1608613738 | DSP | c.3200C= (p.Ala1067=)
| |
6 | g.7579390C>G | CA362683281 | DSP | c.3200C>G (p.Ala1067Gly)
| |
6 | g.7579390C>T | CA362683282 | DSP | c.3200C>T (p.Ala1067Val)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.7579390_7579392delinsCAG | CA1608613736 | DSP | c.3200_3202delinsCAG (p.Ala1067=)
| |
6 | g.7579391A>C | CA448714231 | DSP | c.3201A>C (p.Ala1067=)
| |
6 | g.7579391A>G | CA448714229 | DSP | c.3201A>G (p.Ala1067=)
| |
6 | g.7579391A>T | CA448714230 | DSP | c.3201A>T (p.Ala1067=)
| |
6 | g.7579393_7579394del | CA917669408 | DSP | c.3203_3204del (p.Glu1068ValfsTer19)
| ClinVar dbSNP |
6 | g.7579392G>A | CA362683283 | DSP | c.3202G>A (p.Glu1068Lys)
| |
6 | g.7579392G>C | CA362683284 | DSP | c.3202G>C (p.Glu1068Gln)
| ClinVar |
6 | g.7579392G>T | CA362683285 | DSP | c.3202G>T (p.Glu1068Ter)
| gnomAD v4 |
6 | g.7579393A>C | CA362683286 | DSP | c.3203A>C (p.Glu1068Ala)
| |
6 | g.7579393A>G | CA362683288 | DSP | c.3203A>G (p.Glu1068Gly)
| |
6 | g.7579393A>T | CA362683287 | DSP | c.3203A>T (p.Glu1068Val)
| |
6 | g.7579394G>A | CA448714233 | DSP | c.3204G>A (p.Glu1068=)
| |
6 | g.7579394G>C | CA362683289 | DSP | c.3204G>C (p.Glu1068Asp)
| |
6 | g.7579394G>T | CA362683290 | DSP | c.3204G>T (p.Glu1068Asp)
| |
6 | g.7579395T>A | CA362683291 | DSP | c.3205T>A (p.Cys1069Ser)
| |
6 | g.7579395T>C | CA362683292 | DSP | c.3205T>C (p.Cys1069Arg)
| gnomAD v4 |
6 | g.7579395T>G | CA362683293 | DSP | c.3205T>G (p.Cys1069Gly)
| |
6 | g.7579396G>A | CA362683294 | DSP | c.3206G>A (p.Cys1069Tyr)
| |
6 | g.7579396G>C | CA362683295 | DSP | c.3206G>C (p.Cys1069Ser)
| |
6 | g.7579396G>T | CA362683296 | DSP | c.3206G>T (p.Cys1069Phe)
| |
6 | g.7579397T>A | CA362683297 | DSP | c.3207T>A (p.Cys1069Ter)
| |
6 | g.7579397T>C | CA448714234 | DSP | c.3207T>C (p.Cys1069=)
| |
6 | g.7579397T>G | CA362683298 | DSP | c.3207T>G (p.Cys1069Trp)
| |
6 | g.7579398T>A | CA362683301 | DSP | c.3208T>A (p.Ser1070Thr)
| |
6 | g.7579398T>C | CA362683300 | DSP | c.3208T>C (p.Ser1070Pro)
| |
6 | g.7579398T>G | CA362683299 | DSP | c.3208T>G (p.Ser1070Ala)
| |
6 | g.7579399C>A | CA362683302 | DSP | c.3209C>A (p.Ser1070Tyr)
| |
6 | g.7579399C= | CA1608613746 | DSP | c.3209C= (p.Ser1070=)
| |
6 | g.7579399C>G | CA362683304 | DSP | c.3209C>G (p.Ser1070Cys)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.7579399C>T | CA362683303 | DSP | c.3209C>T (p.Ser1070Phe)
| gnomAD v4 COSMIC |
6 | g.7579400C>A | CA448714235 | DSP | c.3210C>A (p.Ser1070=)
| |
6 | g.7579400C>G | CA448714236 | DSP | c.3210C>G (p.Ser1070=)
| |
6 | g.7579400C>T | CA448714237 | DSP | c.3210C>T (p.Ser1070=)
| |
6 | g.7579401C>A | CA362683305 | DSP | c.3211C>A (p.Gln1071Lys)
| |
6 | g.7579401C>G | CA362683307 | DSP | c.3211C>G (p.Gln1071Glu)
| |
6 | g.7579401C>T | CA362683306 | DSP | c.3211C>T (p.Gln1071Ter)
| ClinVar gnomAD v4 |
6 | g.7579402A>C | CA362683308 | DSP | c.3212A>C (p.Gln1071Pro)
| |
6 | g.7579402A>G | CA362683310 | DSP | c.3212A>G (p.Gln1071Arg)
| |
6 | g.7579402A>T | CA362683309 | DSP | c.3212A>T (p.Gln1071Leu)
| |
6 | g.7579403G>A | CA448714238 | DSP | c.3213G>A (p.Gln1071=)
| |
6 | g.7579403G>C | CA362683311 | DSP | c.3213G>C (p.Gln1071His)
| |
6 | g.7579403G>T | CA362683312 | DSP | c.3213G>T (p.Gln1071His)
| |
6 | g.7579404T>A | CA362683313 | DSP | c.3214T>A (p.Phe1072Ile)
| |
6 | g.7579404T>C | CA362683314 | DSP | c.3214T>C (p.Phe1072Leu)
| |
6 | g.7579404T>G | CA362683315 | DSP | c.3214T>G (p.Phe1072Val)
| |
6 | g.7579405T>A | CA362683316 | DSP | c.3215T>A (p.Phe1072Tyr)
| |
6 | g.7579405T>C | CA362683317 | DSP | c.3215T>C (p.Phe1072Ser)
| |
6 | g.7579405T>G | CA362683318 | DSP | c.3215T>G (p.Phe1072Cys)
| |
6 | g.7579406C>A | CA362683319 | DSP | c.3216C>A (p.Phe1072Leu)
| |
6 | g.7579406C= | CA1608613753 | DSP | c.3216C= (p.Phe1072=)
| |
6 | g.7579406C>G | CA362683320 | DSP | c.3216C>G (p.Phe1072Leu)
| |
6 | g.7579406C>T | CA037429 | DSP | c.3216C>T (p.Phe1072=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7579407A>C | CA362683323 | DSP | c.3217A>C (p.Lys1073Gln)
| |
6 | g.7579407A>G | CA362683322 | DSP | c.3217A>G (p.Lys1073Glu)
| |
6 | g.7579407A>T | CA362683321 | DSP | c.3217A>T (p.Lys1073Ter)
| |
6 | g.7579408A= | CA1608613760 | DSP | c.3218A= (p.Lys1073=)
| |
6 | g.7579408A>C | CA362683324 | DSP | c.3218A>C (p.Lys1073Thr)
| |
6 | g.7579408A>G | CA362683325 | DSP | c.3218A>G (p.Lys1073Arg)
| dbSNP gnomAD v4 |
6 | g.7579408A>T | CA362683326 | DSP | c.3218A>T (p.Lys1073Ile)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.7579409A= | CA1608613765 | DSP | c.3219A= (p.Lys1073=)
| |
6 | g.7579409A>C | CA362683327 | DSP | c.3219A>C (p.Lys1073Asn)
| |
6 | g.7579409A>G | CA448714239 | DSP | c.3219A>G (p.Lys1073=)
| dbSNP |
6 | g.7579409A>T | CA362683328 | DSP | c.3219A>T (p.Lys1073Asn)
| |
6 | g.7579410G>A | CA362683329 | DSP | c.3220G>A (p.Ala1074Thr)
| |
6 | g.7579410G>C | CA362683330 | DSP | c.3220G>C (p.Ala1074Pro)
| |
6 | g.7579410G>T | CA362683331 | DSP | c.3220G>T (p.Ala1074Ser)
| |
6 | g.7579411C>A | CA005778 | DSP | c.3221C>A (p.Ala1074Glu)
| ClinVar dbSNP |
6 | g.7579411C= | CA1608613772 | DSP | c.3221C= (p.Ala1074=)
| |
6 | g.7579411C>G | CA362683332 | DSP | c.3221C>G (p.Ala1074Gly)
| |
6 | g.7579411C>T | CA037465 | DSP | c.3221C>T (p.Ala1074Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |