| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.7580099_7580111del | CA2580075409 | DSP | c.3909_3921del (p.Glu1304GlyfsTer?) c.3582+327_3582+339del (n.3582+327_3582+339del) | ClinVar |
| 6 | g.7580107A>C | CA362685139 | DSP | c.3917A>C (p.Asn1306Thr) c.3582+335A>C (n.3582+335A>C) | |
| 6 | g.7580107A>G | CA362685140 | DSP | c.3917A>G (p.Asn1306Ser) c.3582+335A>G (n.3582+335A>G) | |
| 6 | g.7580107A>T | CA362685141 | DSP | c.3917A>T (p.Asn1306Ile) c.3582+335A>T (n.3582+335A>T) | |
| 6 | g.7580108T>A | CA362685142 | DSP | c.3918T>A (p.Asn1306Lys) c.3582+336T>A (n.3582+336T>A) | |
| 6 | g.7580108T>C | CA039568 | DSP | c.3918T>C (p.Asn1306=) c.3582+336T>C (n.3582+336T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7580108T>G | CA362685143 | DSP | c.3918T>G (p.Asn1306Lys) c.3582+336T>G (n.3582+336T>G) | |
| 6 | g.7580108T= | CA1608615848 | DSP | c.3918T= (p.Asn1306=) c.3582+336T= (n.3582+336T=) | |
| 6 | g.7580109G>A | CA039587 | DSP | c.3919G>A (p.Ala1307Thr) c.3582+337G>A (n.3582+337G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7580109G>C | CA362685145 | DSP | c.3919G>C (p.Ala1307Pro) c.3582+337G>C (n.3582+337G>C) | |
| 6 | g.7580109G= | CA1608615854 | DSP | c.3919G= (p.Ala1307=) c.3582+337G= (n.3582+337G=) | |
| 6 | g.7580109G>T | CA362685144 | DSP | c.3919G>T (p.Ala1307Ser) c.3582+337G>T (n.3582+337G>T) | ClinVar dbSNP |
| 6 | g.7580109_7580110delinsTT | CA2740090879 | DSP | c.3919_3920delinsTT (p.Ala1307Phe) c.3582+337_3582+338delinsTT (n.3582+337_3582+338delinsTT) | ClinVar |
| 6 | g.7580110C>A | CA362685146 | DSP | c.3920C>A (p.Ala1307Asp) c.3582+338C>A (n.3582+338C>A) | |
| 6 | g.7580110C>G | CA362685147 | DSP | c.3920C>G (p.Ala1307Gly) c.3582+338C>G (n.3582+338C>G) | |
| 6 | g.7580110C>T | CA362685148 | DSP | c.3920C>T (p.Ala1307Val) c.3582+338C>T (n.3582+338C>T) | gnomAD v4 COSMIC |
| 6 | g.7580111C>A | CA448714472 | DSP | c.3921C>A (p.Ala1307=) c.3582+339C>A (n.3582+339C>A) | |
| 6 | g.7580111C>G | CA448714473 | DSP | c.3921C>G (p.Ala1307=) c.3582+339C>G (n.3582+339C>G) | gnomAD v4 |
| 6 | g.7580111C>T | CA448714474 | DSP | c.3921C>T (p.Ala1307=) c.3582+339C>T (n.3582+339C>T) | gnomAD v4 |
| 6 | g.7580112C>A | CA448714475 | DSP | c.3922C>A (p.Arg1308=) c.3582+340C>A (n.3582+340C>A) | |
| 6 | g.7580112C= | CA1608615865 | DSP | c.3922C= (p.Arg1308=) c.3582+340C= (n.3582+340C=) | |
| 6 | g.7580112C>G | CA362685149 | DSP | c.3922C>G (p.Arg1308Gly) c.3582+340C>G (n.3582+340C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7580112C>T | CA039598 | DSP | c.3922C>T (p.Arg1308Trp) c.3582+340C>T (n.3582+340C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7580113G>A | CA004286 | DSP | c.3923G>A (p.Arg1308Gln) c.3582+341G>A (n.3582+341G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7580113G>C | CA039623 | DSP | c.3923G>C (p.Arg1308Pro) c.3582+341G>C (n.3582+341G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7580113G= | CA1608615877 | DSP | c.3923G= (p.Arg1308=) c.3582+341G= (n.3582+341G=) | |
| 6 | g.7580113G>T | CA362685150 | DSP | c.3923G>T (p.Arg1308Leu) c.3582+341G>T (n.3582+341G>T) | ClinVar dbSNP |
| 6 | g.7580114del | CA2695206010 | DSP | c.3924del (p.His1309ThrfsTer?) c.3582+342del (n.3582+342del) | |
| 6 | g.7580114_7580120del | CA645551225 | DSP | c.3924_3930del (p.His1309SerfsTer?) c.3582+342_3582+348del (n.3582+342_3582+348del) | COSMIC |
| 6 | g.7580114G>A | CA448714477 | DSP | c.3924G>A (p.Arg1308=) c.3582+342G>A (n.3582+342G>A) | gnomAD v4 COSMIC |
| 6 | g.7580114G>C | CA448714478 | DSP | c.3924G>C (p.Arg1308=) c.3582+342G>C (n.3582+342G>C) | |
| 6 | g.7580114G>T | CA448714479 | DSP | c.3924G>T (p.Arg1308=) c.3582+342G>T (n.3582+342G>T) | |
| 6 | g.7580114_7580115del | CA2580075410 | DSP | c.3924_3925del (p.His1309GlnfsTer16) c.3582+342_3582+343del (n.3582+342_3582+343del) | ClinVar |
| 6 | g.7580115C>A | CA362685151 | DSP | c.3925C>A (p.His1309Asn) c.3582+343C>A (n.3582+343C>A) | |
| 6 | g.7580115C>G | CA362685152 | DSP | c.3925C>G (p.His1309Asp) c.3582+343C>G (n.3582+343C>G) | |
| 6 | g.7580115C>T | CA362685153 | DSP | c.3925C>T (p.His1309Tyr) c.3582+343C>T (n.3582+343C>T) | |
| 6 | g.7580116A>C | CA362685155 | DSP | c.3926A>C (p.His1309Pro) c.3582+344A>C (n.3582+344A>C) | |
| 6 | g.7580116A>G | CA362685156 | DSP | c.3926A>G (p.His1309Arg) c.3582+344A>G (n.3582+344A>G) | |
| 6 | g.7580116A>T | CA362685154 | DSP | c.3926A>T (p.His1309Leu) c.3582+344A>T (n.3582+344A>T) | |
| 6 | g.7580117C>A | CA362685157 | DSP | c.3927C>A (p.His1309Gln) c.3582+345C>A (n.3582+345C>A) | |
| 6 | g.7580117C>G | CA362685158 | DSP | c.3927C>G (p.His1309Gln) c.3582+345C>G (n.3582+345C>G) | |
| 6 | g.7580117C>T | CA448714482 | DSP | c.3927C>T (p.His1309=) c.3582+345C>T (n.3582+345C>T) | |
| 6 | g.7580118A= | CA1608615912 | DSP | c.3928A= (p.Lys1310=) c.3582+346A= (n.3582+346A=) | |
| 6 | g.7580118A>C | CA362685159 | DSP | c.3928A>C (p.Lys1310Gln) c.3582+346A>C (n.3582+346A>C) | |
| 6 | g.7580118A>G | CA362685161 | DSP | c.3928A>G (p.Lys1310Glu) c.3582+346A>G (n.3582+346A>G) | gnomAD v4 |
| 6 | g.7580118A>T | CA362685160 | DSP | c.3928A>T (p.Lys1310Ter) c.3582+346A>T (n.3582+346A>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7580119A>C | CA362685162 | DSP | c.3929A>C (p.Lys1310Thr) c.3582+347A>C (n.3582+347A>C) | ClinVar gnomAD v4 |
| 6 | g.7580119A>G | CA362685163 | DSP | c.3929A>G (p.Lys1310Arg) c.3582+347A>G (n.3582+347A>G) | gnomAD v4 |
| 6 | g.7580119A>T | CA362685164 | DSP | c.3929A>T (p.Lys1310Met) c.3582+347A>T (n.3582+347A>T) | |
| 6 | g.7580120G>A | CA448714484 | DSP | c.3930G>A (p.Lys1310=) c.3582+348G>A (n.3582+348G>A) | |
| 6 | g.7580120G>C | CA362685165 | DSP | c.3930G>C (p.Lys1310Asn) c.3582+348G>C (n.3582+348G>C) | |
| 6 | g.7580120G>T | CA362685166 | DSP | c.3930G>T (p.Lys1310Asn) c.3582+348G>T (n.3582+348G>T) | |
| 6 | g.7580121del | CA2695206011 | DSP | c.3931del (p.Gln1311SerfsTer?) c.3582+349del (n.3582+349del) | |
| 6 | g.7580121C>A | CA362685167 | DSP | c.3931C>A (p.Gln1311Lys) c.3582+349C>A (n.3582+349C>A) | |
| 6 | g.7580121C>G | CA362685168 | DSP | c.3931C>G (p.Gln1311Glu) c.3582+349C>G (n.3582+349C>G) | |
| 6 | g.7580121C>T | CA362685169 | DSP | c.3931C>T (p.Gln1311Ter) c.3582+349C>T (n.3582+349C>T) | ClinVar |
| 6 | g.7580122A>C | CA362685170 | DSP | c.3932A>C (p.Gln1311Pro) c.3582+350A>C (n.3582+350A>C) | ClinVar gnomAD v4 |
| 6 | g.7580122A>G | CA362685171 | DSP | c.3932A>G (p.Gln1311Arg) c.3582+350A>G (n.3582+350A>G) | |
| 6 | g.7580122A>T | CA362685172 | DSP | c.3932A>T (p.Gln1311Leu) c.3582+350A>T (n.3582+350A>T) | |
| 6 | g.7580123G>A | CA448714485 | DSP | c.3933G>A (p.Gln1311=) c.3582+351G>A (n.3582+351G>A) | gnomAD v4 |
| 6 | g.7580123G>C | CA362685173 | DSP | c.3933G>C (p.Gln1311His) c.3582+351G>C (n.3582+351G>C) | |
| 6 | g.7580123G>T | CA362685174 | DSP | c.3933G>T (p.Gln1311His) c.3582+351G>T (n.3582+351G>T) | gnomAD v4 |
| 6 | g.7580124T>A | CA362685177 | DSP | c.3934T>A (p.Ser1312Thr) c.3582+352T>A (n.3582+352T>A) | |
| 6 | g.7580124T>C | CA362685175 | DSP | c.3934T>C (p.Ser1312Pro) c.3582+352T>C (n.3582+352T>C) | ClinVar |
| 6 | g.7580124T>G | CA362685176 | DSP | c.3934T>G (p.Ser1312Ala) c.3582+352T>G (n.3582+352T>G) | |
| 6 | g.7580125C>A | CA362685178 | DSP | c.3935C>A (p.Ser1312Tyr) c.3582+353C>A (n.3582+353C>A) | |
| 6 | g.7580125C= | CA1608615918 | DSP | c.3935C= (p.Ser1312=) c.3582+353C= (n.3582+353C=) | |
| 6 | g.7580125C>G | CA362685179 | DSP | c.3935C>G (p.Ser1312Cys) c.3582+353C>G (n.3582+353C>G) | ClinVar dbSNP |
| 6 | g.7580125C>T | CA362685180 | DSP | c.3935C>T (p.Ser1312Phe) c.3582+353C>T (n.3582+353C>T) | COSMIC |
| 6 | g.7580126C>A | CA448714488 | DSP | c.3936C>A (p.Ser1312=) c.3582+354C>A (n.3582+354C>A) | |
| 6 | g.7580126C>G | CA448714489 | DSP | c.3936C>G (p.Ser1312=) c.3582+354C>G (n.3582+354C>G) | |
| 6 | g.7580126C>T | CA448714490 | DSP | c.3936C>T (p.Ser1312=) c.3582+354C>T (n.3582+354C>T) | |
| 6 | g.7580127C>A | CA362685181 | DSP | c.3937C>A (p.Leu1313Met) c.3582+355C>A (n.3582+355C>A) | |
| 6 | g.7580127C>G | CA362685182 | DSP | c.3937C>G (p.Leu1313Val) c.3582+355C>G (n.3582+355C>G) | |
| 6 | g.7580127C>T | CA448714491 | DSP | c.3937C>T (p.Leu1313=) c.3582+355C>T (n.3582+355C>T) | |
| 6 | g.7580127_7580128delinsCT | CA1608615930 | DSP | c.3937_3938delinsCT (p.Leu1313=) c.3582+355_3582+356delinsCT (n.3582+355_3582+356delinsCT) | |
| 6 | g.7580128del | CA1608615938 | DSP | c.3938del (p.Leu1313ArgfsTer?) c.3582+356del (n.3582+356del) | dbSNP |
| 6 | g.7580128T>A | CA362685183 | DSP | c.3938T>A (p.Leu1313Gln) c.3582+356T>A (n.3582+356T>A) | |
| 6 | g.7580128T>C | CA362685184 | DSP | c.3938T>C (p.Leu1313Pro) c.3582+356T>C (n.3582+356T>C) | |
| 6 | g.7580128T>G | CA362685185 | DSP | c.3938T>G (p.Leu1313Arg) c.3582+356T>G (n.3582+356T>G) | |
| 6 | g.7580129G>A | CA448714492 | DSP | c.3939G>A (p.Leu1313=) c.3582+357G>A (n.3582+357G>A) | |
| 6 | g.7580129G>C | CA448714494 | DSP | c.3939G>C (p.Leu1313=) c.3582+357G>C (n.3582+357G>C) | |
| 6 | g.7580129G>T | CA448714495 | DSP | c.3939G>T (p.Leu1313=) c.3582+357G>T (n.3582+357G>T) | |
| 6 | g.7580130_7580144del | CA2677234294 | DSP | c.3940_3954del (p.Glu1314_Lys1318del) c.3582+358_3582+372del (n.3582+358_3582+372del) | gnomAD v4 |
| 6 | g.7580130G>A | CA362685186 | DSP | c.3940G>A (p.Glu1314Lys) c.3582+358G>A (n.3582+358G>A) | |
| 6 | g.7580130G>C | CA362685187 | DSP | c.3940G>C (p.Glu1314Gln) c.3582+358G>C (n.3582+358G>C) | |
| 6 | g.7580130G>T | CA362685188 | DSP | c.3940G>T (p.Glu1314Ter) c.3582+358G>T (n.3582+358G>T) | |
| 6 | g.7580131A= | CA1608615943 | DSP | c.3941A= (p.Glu1314=) c.3582+359A= (n.3582+359A=) | |
| 6 | g.7580131A>C | CA362685189 | DSP | c.3941A>C (p.Glu1314Ala) c.3582+359A>C (n.3582+359A>C) | |
| 6 | g.7580131A>G | CA362685191 | DSP | c.3941A>G (p.Glu1314Gly) c.3582+359A>G (n.3582+359A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7580131A>T | CA362685190 | DSP | c.3941A>T (p.Glu1314Val) c.3582+359A>T (n.3582+359A>T) | |
| 6 | g.7580132G>A | CA448714498 | DSP | c.3942G>A (p.Glu1314=) c.3582+360G>A (n.3582+360G>A) | gnomAD v4 |
| 6 | g.7580132G>C | CA362685192 | DSP | c.3942G>C (p.Glu1314Asp) c.3582+360G>C (n.3582+360G>C) | |
| 6 | g.7580132G>T | CA362685193 | DSP | c.3942G>T (p.Glu1314Asp) c.3582+360G>T (n.3582+360G>T) | |
| 6 | g.7580133G>A | CA362685194 | DSP | c.3943G>A (p.Glu1315Lys) c.3582+361G>A (n.3582+361G>A) | gnomAD v4 |
| 6 | g.7580133G>C | CA362685195 | DSP | c.3943G>C (p.Glu1315Gln) c.3582+361G>C (n.3582+361G>C) | |
| 6 | g.7580133G>T | CA362685196 | DSP | c.3943G>T (p.Glu1315Ter) c.3582+361G>T (n.3582+361G>T) | |
| 6 | g.7580134A>C | CA362685197 | DSP | c.3944A>C (p.Glu1315Ala) c.3582+362A>C (n.3582+362A>C) | |
| 6 | g.7580134A>G | CA362685198 | DSP | c.3944A>G (p.Glu1315Gly) c.3582+362A>G (n.3582+362A>G) | |
| 6 | g.7580134A>T | CA362685199 | DSP | c.3944A>T (p.Glu1315Val) c.3582+362A>T (n.3582+362A>T) | |
| 6 | g.7580135G>A | CA448714499 | DSP | c.3945G>A (p.Glu1315=) c.3582+363G>A (n.3582+363G>A) | ClinVar gnomAD v4 |
| 6 | g.7580135G>C | CA362685200 | DSP | c.3945G>C (p.Glu1315Asp) c.3582+363G>C (n.3582+363G>C) | |
| 6 | g.7580135G>T | CA362685201 | DSP | c.3945G>T (p.Glu1315Asp) c.3582+363G>T (n.3582+363G>T) | |
| 6 | g.7580136G>A | CA362685204 | DSP | c.3946G>A (p.Ala1316Thr) c.3582+364G>A (n.3582+364G>A) | |
| 6 | g.7580136G>C | CA362685203 | DSP | c.3946G>C (p.Ala1316Pro) c.3582+364G>C (n.3582+364G>C) | |
| 6 | g.7580136G>T | CA362685202 | DSP | c.3946G>T (p.Ala1316Ser) c.3582+364G>T (n.3582+364G>T) | |
| 6 | g.7580137C>A | CA362685205 | DSP | c.3947C>A (p.Ala1316Asp) c.3582+365C>A (n.3582+365C>A) | |
| 6 | g.7580137C= | CA1608615944 | DSP | c.3947C= (p.Ala1316=) c.3582+365C= (n.3582+365C=) | |
| 6 | g.7580137C>G | CA362685206 | DSP | c.3947C>G (p.Ala1316Gly) c.3582+365C>G (n.3582+365C>G) | ClinVar gnomAD v4 |
| 6 | g.7580137C>T | CA362685207 | DSP | c.3947C>T (p.Ala1316Val) c.3582+365C>T (n.3582+365C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7580138del | CA2677234296 | DSP | c.3948del (p.Ala1317ProfsTer?) c.3582+366del (n.3582+366del) | gnomAD v4 |
| 6 | g.7580138T>A | CA448714503 | DSP | c.3948T>A (p.Ala1316=) c.3582+366T>A (n.3582+366T>A) | |
| 6 | g.7580138T>C | CA448714502 | DSP | c.3948T>C (p.Ala1316=) c.3582+366T>C (n.3582+366T>C) | ClinVar dbSNP |
| 6 | g.7580138T>G | CA448714501 | DSP | c.3948T>G (p.Ala1316=) c.3582+366T>G (n.3582+366T>G) | |
| 6 | g.7580138T= | CA1608615947 | DSP | c.3948T= (p.Ala1316=) c.3582+366T= (n.3582+366T=) | |
| 6 | g.7580139G>A | CA362685208 | DSP | c.3949G>A (p.Ala1317Thr) c.3582+367G>A (n.3582+367G>A) | |
| 6 | g.7580139G>C | CA362685209 | DSP | c.3949G>C (p.Ala1317Pro) c.3582+367G>C (n.3582+367G>C) | gnomAD v4 |
| 6 | g.7580139G>T | CA362685210 | DSP | c.3949G>T (p.Ala1317Ser) c.3582+367G>T (n.3582+367G>T) | |
| 6 | g.7580140C>A | CA362685211 | DSP | c.3950C>A (p.Ala1317Asp) c.3582+368C>A (n.3582+368C>A) | |
| 6 | g.7580140C>G | CA362685212 | DSP | c.3950C>G (p.Ala1317Gly) c.3582+368C>G (n.3582+368C>G) | |
| 6 | g.7580140C>T | CA362685213 | DSP | c.3950C>T (p.Ala1317Val) c.3582+368C>T (n.3582+368C>T) | |
| 6 | g.7580141C>A | CA448714505 | DSP | c.3951C>A (p.Ala1317=) c.3582+369C>A (n.3582+369C>A) | |
| 6 | g.7580141C>G | CA448714506 | DSP | c.3951C>G (p.Ala1317=) c.3582+369C>G (n.3582+369C>G) | |
| 6 | g.7580141C>T | CA448714507 | DSP | c.3951C>T (p.Ala1317=) c.3582+369C>T (n.3582+369C>T) | |
| 6 | g.7580142A>C | CA362685214 | DSP | c.3952A>C (p.Lys1318Gln) c.3582+370A>C (n.3582+370A>C) | |
| 6 | g.7580142A>G | CA362685215 | DSP | c.3952A>G (p.Lys1318Glu) c.3582+370A>G (n.3582+370A>G) | gnomAD v4 |
| 6 | g.7580142A>T | CA362685216 | DSP | c.3952A>T (p.Lys1318Ter) c.3582+370A>T (n.3582+370A>T) | |
| 6 | g.7580143A= | CA1608615950 | DSP | c.3953A= (p.Lys1318=) c.3582+371A= (n.3582+371A=) | |
| 6 | g.7580143A>C | CA362685218 | DSP | c.3953A>C (p.Lys1318Thr) c.3582+371A>C (n.3582+371A>C) | |
| 6 | g.7580143A>G | CA362685219 | DSP | c.3953A>G (p.Lys1318Arg) c.3582+371A>G (n.3582+371A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7580143A>T | CA362685217 | DSP | c.3953A>T (p.Lys1318Met) c.3582+371A>T (n.3582+371A>T) | |
| 6 | g.7580144G>A | CA133969022 | DSP | c.3954G>A (p.Lys1318=) c.3582+372G>A (n.3582+372G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7580144G>C | CA362685220 | DSP | c.3954G>C (p.Lys1318Asn) c.3582+372G>C (n.3582+372G>C) | |
| 6 | g.7580144G= | CA1608615952 | DSP | c.3954G= (p.Lys1318=) c.3582+372G= (n.3582+372G=) | |
| 6 | g.7580144G>T | CA362685221 | DSP | c.3954G>T (p.Lys1318Asn) c.3582+372G>T (n.3582+372G>T) | |
| 6 | g.7580145A>C | CA362685222 | DSP | c.3955A>C (p.Thr1319Pro) c.3582+373A>C (n.3582+373A>C) | |
| 6 | g.7580145A>G | CA362685223 | DSP | c.3955A>G (p.Thr1319Ala) c.3582+373A>G (n.3582+373A>G) | |
| 6 | g.7580145A>T | CA362685224 | DSP | c.3955A>T (p.Thr1319Ser) c.3582+373A>T (n.3582+373A>T) | |
| 6 | g.7580146C>A | CA362685225 | DSP | c.3956C>A (p.Thr1319Asn) c.3582+374C>A (n.3582+374C>A) | |
| 6 | g.7580146C= | CA1608615962 | DSP | c.3956C= (p.Thr1319=) c.3582+374C= (n.3582+374C=) | |
| 6 | g.7580146C>G | CA004299 | DSP | c.3956C>G (p.Thr1319Ser) c.3582+374C>G (n.3582+374C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7580146C>T | CA039644 | DSP | c.3956C>T (p.Thr1319Ile) c.3582+374C>T (n.3582+374C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7580147C>A | CA448714509 | DSP | c.3957C>A (p.Thr1319=) c.3582+375C>A (n.3582+375C>A) | |
| 6 | g.7580147C>G | CA448714510 | DSP | c.3957C>G (p.Thr1319=) c.3582+375C>G (n.3582+375C>G) | |
| 6 | g.7580147C>T | CA448714511 | DSP | c.3957C>T (p.Thr1319=) c.3582+375C>T (n.3582+375C>T) | ClinVar dbSNP |
| 6 | g.7580149_7580152del | CA2580075412 | DSP | c.3959_3962del (p.Ile1320ArgfsTer28) c.3582+377_3582+380del (n.3582+377_3582+380del) | ClinVar |
| 6 | g.7580148A= | CA1608615966 | DSP | c.3958A= (p.Ile1320=) c.3582+376A= (n.3582+376A=) | |
| 6 | g.7580148A>C | CA362685226 | DSP | c.3958A>C (p.Ile1320Leu) c.3582+376A>C (n.3582+376A>C) | gnomAD v4 |
| 6 | g.7580148A>G | CA362685227 | DSP | c.3958A>G (p.Ile1320Val) c.3582+376A>G (n.3582+376A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7580148A>T | CA362685228 | DSP | c.3958A>T (p.Ile1320Phe) c.3582+376A>T (n.3582+376A>T) | |
| 6 | g.7580149T>A | CA362685229 | DSP | c.3959T>A (p.Ile1320Asn) c.3582+377T>A (n.3582+377T>A) | |
| 6 | g.7580149T>C | CA362685230 | DSP | c.3959T>C (p.Ile1320Thr) c.3582+377T>C (n.3582+377T>C) | |
| 6 | g.7580149T>G | CA362685231 | DSP | c.3959T>G (p.Ile1320Ser) c.3582+377T>G (n.3582+377T>G) | |
| 6 | g.7580150T>A | CA448714512 | DSP | c.3960T>A (p.Ile1320=) c.3582+378T>A (n.3582+378T>A) | |
| 6 | g.7580150T>C | CA448714513 | DSP | c.3960T>C (p.Ile1320=) c.3582+378T>C (n.3582+378T>C) | |
| 6 | g.7580150T>G | CA362685232 | DSP | c.3960T>G (p.Ile1320Met) c.3582+378T>G (n.3582+378T>G) | |
| 6 | g.7580151C>A | CA362685233 | DSP | c.3961C>A (p.Gln1321Lys) c.3582+379C>A (n.3582+379C>A) | |
| 6 | g.7580151C= | CA1608615970 | DSP | c.3961C= (p.Gln1321=) c.3582+379C= (n.3582+379C=) | |
| 6 | g.7580151C>G | CA362685234 | DSP | c.3961C>G (p.Gln1321Glu) c.3582+379C>G (n.3582+379C>G) | |
| 6 | g.7580151C>T | CA004306 | DSP | c.3961C>T (p.Gln1321Ter) c.3582+379C>T (n.3582+379C>T) | ClinVar dbSNP |
| 6 | g.7580152A>C | CA362685235 | DSP | c.3962A>C (p.Gln1321Pro) c.3582+380A>C (n.3582+380A>C) | |
| 6 | g.7580152A>G | CA362685236 | DSP | c.3962A>G (p.Gln1321Arg) c.3582+380A>G (n.3582+380A>G) | ClinVar |
| 6 | g.7580152A>T | CA362685237 | DSP | c.3962A>T (p.Gln1321Leu) c.3582+380A>T (n.3582+380A>T) | |
| 6 | g.7580153G>A | CA004313 | DSP | c.3963G>A (p.Gln1321=) c.3582+381G>A (n.3582+381G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7580153G>C | CA133969066 | DSP | c.3963G>C (p.Gln1321His) c.3582+381G>C (n.3582+381G>C) | dbSNP |
| 6 | g.7580153G= | CA1608615971 | DSP | c.3963G= (p.Gln1321=) c.3582+381G= (n.3582+381G=) | |
| 6 | g.7580153G>T | CA362685238 | DSP | c.3963G>T (p.Gln1321His) c.3582+381G>T (n.3582+381G>T) | |
| 6 | g.7580154G>A | CA362685239 | DSP | c.3964G>A (p.Asp1322Asn) c.3582+382G>A (n.3582+382G>A) | ClinVar dbSNP COSMIC |
| 6 | g.7580154G>C | CA362685240 | DSP | c.3964G>C (p.Asp1322His) c.3582+382G>C (n.3582+382G>C) | |
| 6 | g.7580154G= | CA1608615972 | DSP | c.3964G= (p.Asp1322=) c.3582+382G= (n.3582+382G=) | |
| 6 | g.7580154G>T | CA362685241 | DSP | c.3964G>T (p.Asp1322Tyr) c.3582+382G>T (n.3582+382G>T) | |
| 6 | g.7580155A>C | CA362685244 | DSP | c.3965A>C (p.Asp1322Ala) c.3582+383A>C (n.3582+383A>C) | |
| 6 | g.7580155A>G | CA362685243 | DSP | c.3965A>G (p.Asp1322Gly) c.3582+383A>G (n.3582+383A>G) | |
| 6 | g.7580155A>T | CA362685242 | DSP | c.3965A>T (p.Asp1322Val) c.3582+383A>T (n.3582+383A>T) | |
| 6 | g.7580156C>A | CA362685245 | DSP | c.3966C>A (p.Asp1322Glu) c.3582+384C>A (n.3582+384C>A) | dbSNP gnomAD v2 |
| 6 | g.7580156C= | CA1608615974 | DSP | c.3966C= (p.Asp1322=) c.3582+384C= (n.3582+384C=) | |
| 6 | g.7580156C>G | CA362685246 | DSP | c.3966C>G (p.Asp1322Glu) c.3582+384C>G (n.3582+384C>G) | gnomAD v4 |
| 6 | g.7580156C>T | CA448714516 | DSP | c.3966C>T (p.Asp1322=) c.3582+384C>T (n.3582+384C>T) | |
| 6 | g.7580157A>C | CA362685247 | DSP | c.3967A>C (p.Lys1323Gln) c.3582+385A>C (n.3582+385A>C) | |
| 6 | g.7580157A>G | CA362685248 | DSP | c.3967A>G (p.Lys1323Glu) c.3582+385A>G (n.3582+385A>G) | |
| 6 | g.7580157A>T | CA362685249 | DSP | c.3967A>T (p.Lys1323Ter) c.3582+385A>T (n.3582+385A>T) | |
| 6 | g.7580158A= | CA1608615979 | DSP | c.3968A= (p.Lys1323=) c.3582+386A= (n.3582+386A=) | |
| 6 | g.7580158A>C | CA362685250 | DSP | c.3968A>C (p.Lys1323Thr) c.3582+386A>C (n.3582+386A>C) | |
| 6 | g.7580158A>G | CA133969073 | DSP | c.3968A>G (p.Lys1323Arg) c.3582+386A>G (n.3582+386A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7580158A>T | CA362685251 | DSP | c.3968A>T (p.Lys1323Ile) c.3582+386A>T (n.3582+386A>T) | |
| 6 | g.7580158_7580162delinsAAAAT | CA1608615986 | DSP | c.3968_3972delinsAAAAT (p.Lys1323=) c.3582+386_3582+390delinsAAAAT (n.3582+386_3582+390delinsAAAAT) | |
| 6 | g.7580159A>C | CA362685252 | DSP | c.3969A>C (p.Lys1323Asn) c.3582+387A>C (n.3582+387A>C) | |
| 6 | g.7580159A>G | CA448714518 | DSP | c.3969A>G (p.Lys1323=) c.3582+387A>G (n.3582+387A>G) | |
| 6 | g.7580159A>T | CA362685253 | DSP | c.3969A>T (p.Lys1323Asn) c.3582+387A>T (n.3582+387A>T) | |
| 6 | g.7580161_7580164del | CA658820671 | DSP | c.3971_3974del (p.Asn1324ArgfsTer24) c.3582+389_3582+392del (n.3582+389_3582+392del) | dbSNP |
| 6 | g.7580160A>C | CA362685254 | DSP | c.3970A>C (p.Asn1324His) c.3582+388A>C (n.3582+388A>C) | |
| 6 | g.7580160A>G | CA362685255 | DSP | c.3970A>G (p.Asn1324Asp) c.3582+388A>G (n.3582+388A>G) | |
| 6 | g.7580160A>T | CA362685256 | DSP | c.3970A>T (p.Asn1324Tyr) c.3582+388A>T (n.3582+388A>T) | ClinVar |
| 6 | g.7580161A= | CA1608616002 | DSP | c.3971A= (p.Asn1324=) c.3582+389A= (n.3582+389A=) | |
| 6 | g.7580161A>C | CA362685258 | DSP | c.3971A>C (p.Asn1324Thr) c.3582+389A>C (n.3582+389A>C) | |
| 6 | g.7580161A>G | CA362685257 | DSP | c.3971A>G (p.Asn1324Ser) c.3582+389A>G (n.3582+389A>G) | ClinVar |
| 6 | g.7580161A>T | CA004321 | DSP | c.3971A>T (p.Asn1324Ile) c.3582+389A>T (n.3582+389A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7580162T>A | CA362685259 | DSP | c.3972T>A (p.Asn1324Lys) c.3582+390T>A (n.3582+390T>A) | |
| 6 | g.7580162T>C | CA448714521 | DSP | c.3972T>C (p.Asn1324=) c.3582+390T>C (n.3582+390T>C) | |
| 6 | g.7580162T>G | CA362685260 | DSP | c.3972T>G (p.Asn1324Lys) c.3582+390T>G (n.3582+390T>G) | |
| 6 | g.7580163A= | CA1608616009 | DSP | c.3973A= (p.Lys1325=) c.3582+391A= (n.3582+391A=) | |
| 6 | g.7580163A>C | CA004327 | DSP | c.3973A>C (p.Lys1325Gln) c.3582+391A>C (n.3582+391A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7580163A>G | CA362685261 | DSP | c.3973A>G (p.Lys1325Glu) c.3582+391A>G (n.3582+391A>G) | |
| 6 | g.7580163A>T | CA362685262 | DSP | c.3973A>T (p.Lys1325Ter) c.3582+391A>T (n.3582+391A>T) | |
| 6 | g.7580164A>C | CA362685263 | DSP | c.3974A>C (p.Lys1325Thr) c.3582+392A>C (n.3582+392A>C) | |
| 6 | g.7580164A>G | CA362685264 | DSP | c.3974A>G (p.Lys1325Arg) c.3582+392A>G (n.3582+392A>G) | |
| 6 | g.7580164A>T | CA362685265 | DSP | c.3974A>T (p.Lys1325Met) c.3582+392A>T (n.3582+392A>T) | |
| 6 | g.7580164_7580165insCCAAACACACCCAACACA | CA2769903778 | DSP | c.3974_3975insCCAAACACACCCAACACA (p.Lys1325delinsAsnGlnThrHisProThrGln) c.3582+392_3582+393insCCAAACACACCCAACACA (n.3582+392_3582+393insCCAAACACACCCAACACA) | |
| 6 | g.7580165G>A | CA448714523 | DSP | c.3975G>A (p.Lys1325=) c.3582+393G>A (n.3582+393G>A) | |
| 6 | g.7580165G>C | CA362685266 | DSP | c.3975G>C (p.Lys1325Asn) c.3582+393G>C (n.3582+393G>C) | |
| 6 | g.7580165G>T | CA362685267 | DSP | c.3975G>T (p.Lys1325Asn) c.3582+393G>T (n.3582+393G>T) | |
| 6 | g.7580166G>A | CA362685268 | DSP | c.3976G>A (p.Glu1326Lys) c.3582+394G>A (n.3582+394G>A) | gnomAD v4 |
| 6 | g.7580166G>C | CA362685269 | DSP | c.3976G>C (p.Glu1326Gln) c.3582+394G>C (n.3582+394G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7580166G= | CA1608616014 | DSP | c.3976G= (p.Glu1326=) c.3582+394G= (n.3582+394G=) | |
| 6 | g.7580166G>T | CA362685270 | DSP | c.3976G>T (p.Glu1326Ter) c.3582+394G>T (n.3582+394G>T) | |
| 6 | g.7580167A>C | CA362685272 | DSP | c.3977A>C (p.Glu1326Ala) c.3582+395A>C (n.3582+395A>C) | |
| 6 | g.7580167A>G | CA362685273 | DSP | c.3977A>G (p.Glu1326Gly) c.3582+395A>G (n.3582+395A>G) | gnomAD v4 |
| 6 | g.7580167A>T | CA362685271 | DSP | c.3977A>T (p.Glu1326Val) c.3582+395A>T (n.3582+395A>T) | |
| 6 | g.7580168del | CA2677234298 | DSP | c.3978del (p.Ile1327SerfsTer22) c.3582+396del (n.3582+396del) | gnomAD v4 |
| 6 | g.7580168G>A | CA448714525 | DSP | c.3978G>A (p.Glu1326=) c.3582+396G>A (n.3582+396G>A) | |
| 6 | g.7580168G>C | CA362685275 | DSP | c.3978G>C (p.Glu1326Asp) c.3582+396G>C (n.3582+396G>C) | |
| 6 | g.7580168G>T | CA362685274 | DSP | c.3978G>T (p.Glu1326Asp) c.3582+396G>T (n.3582+396G>T) | |
| 6 | g.7580169A>C | CA362685278 | DSP | c.3979A>C (p.Ile1327Leu) c.3582+397A>C (n.3582+397A>C) | |
| 6 | g.7580169A>G | CA362685276 | DSP | c.3979A>G (p.Ile1327Val) c.3582+397A>G (n.3582+397A>G) | |
| 6 | g.7580169A>T | CA362685277 | DSP | c.3979A>T (p.Ile1327Phe) c.3582+397A>T (n.3582+397A>T) | |
| 6 | g.7580170T>A | CA362685279 | DSP | c.3980T>A (p.Ile1327Asn) c.3582+398T>A (n.3582+398T>A) | |
| 6 | g.7580170T>C | CA362685280 | DSP | c.3980T>C (p.Ile1327Thr) c.3582+398T>C (n.3582+398T>C) | |
| 6 | g.7580170T>G | CA362685281 | DSP | c.3980T>G (p.Ile1327Ser) c.3582+398T>G (n.3582+398T>G) | |
| 6 | g.7580171C>A | CA16605148 | DSP | c.3981C>A (p.Ile1327=) c.3582+399C>A (n.3582+399C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7580171C= | CA1608616020 | DSP | c.3981C= (p.Ile1327=) c.3582+399C= (n.3582+399C=) | |
| 6 | g.7580171C>G | CA362685282 | DSP | c.3981C>G (p.Ile1327Met) c.3582+399C>G (n.3582+399C>G) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7580171C>T | CA004334 | DSP | c.3981C>T (p.Ile1327=) c.3582+399C>T (n.3582+399C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7580172G>A | CA039724 | DSP | c.3982G>A (p.Glu1328Lys) c.3582+400G>A (n.3582+400G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7580172G>C | CA362685283 | DSP | c.3982G>C (p.Glu1328Gln) c.3582+400G>C (n.3582+400G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7580172G= | CA1608616040 | DSP | c.3982G= (p.Glu1328=) c.3582+400G= (n.3582+400G=) | |
| 6 | g.7580172G>T | CA362685284 | DSP | c.3982G>T (p.Glu1328Ter) c.3582+400G>T (n.3582+400G>T) | |
| 6 | g.7580173A>C | CA362685287 | DSP | c.3983A>C (p.Glu1328Ala) c.3582+401A>C (n.3582+401A>C) | |
| 6 | g.7580173A>G | CA362685286 | DSP | c.3983A>G (p.Glu1328Gly) c.3582+401A>G (n.3582+401A>G) | |
| 6 | g.7580173A>T | CA362685285 | DSP | c.3983A>T (p.Glu1328Val) c.3582+401A>T (n.3582+401A>T) | |
| 6 | g.7580173_7580174insTTTTCCCTT | CA2545360059 | DSP | c.3983_3984insTTTTCCCTT (p.Glu1328delinsAspPheProLeu) c.3582+401_3582+402insTTTTCCCTT (n.3582+401_3582+402insTTTTCCCTT) | |
| 6 | g.7580174G>A | CA448714527 | DSP | c.3984G>A (p.Glu1328=) c.3582+402G>A (n.3582+402G>A) | |
| 6 | g.7580174G>C | CA362685288 | DSP | c.3984G>C (p.Glu1328Asp) c.3582+402G>C (n.3582+402G>C) | |
| 6 | g.7580174G>T | CA362685289 | DSP | c.3984G>T (p.Glu1328Asp) c.3582+402G>T (n.3582+402G>T) | |
| 6 | g.7580175A>C | CA448714528 | DSP | c.3985A>C (p.Arg1329=) c.3582+403A>C (n.3582+403A>C) | |
| 6 | g.7580175A>G | CA362685290 | DSP | c.3985A>G (p.Arg1329Gly) c.3582+403A>G (n.3582+403A>G) | ClinVar |
| 6 | g.7580175A>T | CA362685291 | DSP | c.3985A>T (p.Arg1329Ter) c.3582+403A>T (n.3582+403A>T) | |
| 6 | g.7580176G>A | CA362685292 | DSP | c.3986G>A (p.Arg1329Lys) c.3582+404G>A (n.3582+404G>A) | gnomAD v4 |
| 6 | g.7580176G>C | CA362685293 | DSP | c.3986G>C (p.Arg1329Thr) c.3582+404G>C (n.3582+404G>C) | |
| 6 | g.7580176G= | CA1608616057 | DSP | c.3986G= (p.Arg1329=) c.3582+404G= (n.3582+404G=) | |
| 6 | g.7580176G>T | CA133969110 | DSP | c.3986G>T (p.Arg1329Ile) c.3582+404G>T (n.3582+404G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7580177A= | CA1608616060 | DSP | c.3987A= (p.Arg1329=) c.3582+405A= (n.3582+405A=) | |
| 6 | g.7580177A>C | CA362685294 | DSP | c.3987A>C (p.Arg1329Ser) c.3582+405A>C (n.3582+405A>C) | |
| 6 | g.7580177A>G | CA448714530 | DSP | c.3987A>G (p.Arg1329=) c.3582+405A>G (n.3582+405A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7580177A>T | CA362685295 | DSP | c.3987A>T (p.Arg1329Ser) c.3582+405A>T (n.3582+405A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7580178C>A | CA362685296 | DSP | c.3988C>A (p.Leu1330Ile) c.3582+406C>A (n.3582+406C>A) | |
| 6 | g.7580178C= | CA1608616065 | DSP | c.3988C= (p.Leu1330=) c.3582+406C= (n.3582+406C=) | |
| 6 | g.7580178C>G | CA362685297 | DSP | c.3988C>G (p.Leu1330Val) c.3582+406C>G (n.3582+406C>G) | |
| 6 | g.7580178C>T | CA362685298 | DSP | c.3988C>T (p.Leu1330Phe) c.3582+406C>T (n.3582+406C>T) | dbSNP |
| 6 | g.7580179T>A | CA362685301 | DSP | c.3989T>A (p.Leu1330His) c.3582+407T>A (n.3582+407T>A) | ClinVar |
| 6 | g.7580179T>C | CA362685300 | DSP | c.3989T>C (p.Leu1330Pro) c.3582+407T>C (n.3582+407T>C) | gnomAD v4 |
| 6 | g.7580179T>G | CA362685299 | DSP | c.3989T>G (p.Leu1330Arg) c.3582+407T>G (n.3582+407T>G) | |
| 6 | g.7580180C>A | CA448714532 | DSP | c.3990C>A (p.Leu1330=) c.3582+408C>A (n.3582+408C>A) | gnomAD v4 |
| 6 | g.7580180C= | CA1608616069 | DSP | c.3990C= (p.Leu1330=) c.3582+408C= (n.3582+408C=) | |
| 6 | g.7580180C>G | CA448714534 | DSP | c.3990C>G (p.Leu1330=) c.3582+408C>G (n.3582+408C>G) | ClinVar dbSNP COSMIC |
| 6 | g.7580180C>T | CA448714536 | DSP | c.3990C>T (p.Leu1330=) c.3582+408C>T (n.3582+408C>T) | |
| 6 | g.7580181_7580185del | CA2582343012 | DSP | c.3991_3995del (p.Lys1331Ter) c.3582+409_3582+413del (n.3582+409_3582+413del) | ClinVar |
| 6 | g.7580181A>C | CA362685302 | DSP | c.3991A>C (p.Lys1331Gln) c.3582+409A>C (n.3582+409A>C) | |
| 6 | g.7580181A>G | CA362685303 | DSP | c.3991A>G (p.Lys1331Glu) c.3582+409A>G (n.3582+409A>G) | gnomAD v4 |
| 6 | g.7580181A>T | CA362685304 | DSP | c.3991A>T (p.Lys1331Ter) c.3582+409A>T (n.3582+409A>T) | |
| 6 | g.7580183dup | CA1608616074 | DSP | c.3993dup (p.Ala1332SerfsTer2) c.3582+411dup (n.3582+411dup) | dbSNP |
| 6 | g.7580182A>C | CA362685305 | DSP | c.3992A>C (p.Lys1331Thr) c.3582+410A>C (n.3582+410A>C) | |
| 6 | g.7580182A>G | CA362685306 | DSP | c.3992A>G (p.Lys1331Arg) c.3582+410A>G (n.3582+410A>G) | ClinVar |
| 6 | g.7580182A>T | CA362685307 | DSP | c.3992A>T (p.Lys1331Ile) c.3582+410A>T (n.3582+410A>T) | |
| 6 | g.7580183A>C | CA362685309 | DSP | c.3993A>C (p.Lys1331Asn) c.3582+411A>C (n.3582+411A>C) | |
| 6 | g.7580183A>G | CA448714538 | DSP | c.3993A>G (p.Lys1331=) c.3582+411A>G (n.3582+411A>G) | |
| 6 | g.7580183A>T | CA362685308 | DSP | c.3993A>T (p.Lys1331Asn) c.3582+411A>T (n.3582+411A>T) | |
| 6 | g.7580184G>A | CA362685310 | DSP | c.3994G>A (p.Ala1332Thr) c.3582+412G>A (n.3582+412G>A) | |
| 6 | g.7580184G>C | CA362685311 | DSP | c.3994G>C (p.Ala1332Pro) c.3582+412G>C (n.3582+412G>C) | |
| 6 | g.7580184G>T | CA362685312 | DSP | c.3994G>T (p.Ala1332Ser) c.3582+412G>T (n.3582+412G>T) | |
| 6 | g.7580184_7580186delinsGCT | CA1608616079 | DSP | c.3994_3996delinsGCT (p.Ala1332=) c.3582+412_3582+414delinsGCT (n.3582+412_3582+414delinsGCT) | |
| 6 | g.7580185C>A | CA362685313 | DSP | c.3995C>A (p.Ala1332Asp) c.3582+413C>A (n.3582+413C>A) | |
| 6 | g.7580185C= | CA1608616090 | DSP | c.3995C= (p.Ala1332=) c.3582+413C= (n.3582+413C=) | |
| 6 | g.7580185C>G | CA362685314 | DSP | c.3995C>G (p.Ala1332Gly) c.3582+413C>G (n.3582+413C>G) | |
| 6 | g.7580185C>T | CA039746 | DSP | c.3995C>T (p.Ala1332Val) c.3582+413C>T (n.3582+413C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7580185_7580186delinsAATCGA | CA917669419 | DSP | c.3995_3996delinsAATCGA (p.Ala1332GlufsTer15) c.3582+413_3582+414delinsAATCGA (n.3582+413_3582+414delinsAATCGA) | dbSNP |
| 6 | g.7580186T>A | CA448714541 | DSP | c.3996T>A (p.Ala1332=) c.3582+414T>A (n.3582+414T>A) | ClinVar dbSNP |
| 6 | g.7580186T>C | CA448714542 | DSP | c.3996T>C (p.Ala1332=) c.3582+414T>C (n.3582+414T>C) | |
| 6 | g.7580186T>G | CA448714543 | DSP | c.3996T>G (p.Ala1332=) c.3582+414T>G (n.3582+414T>G) | |
| 6 | g.7580186T= | CA1608616099 | DSP | c.3996T= (p.Ala1332=) c.3582+414T= (n.3582+414T=) | |
| 6 | g.7580187G>A | CA362685315 | DSP | c.3997G>A (p.Glu1333Lys) c.3582+415G>A (n.3582+415G>A) | ClinVar dbSNP COSMIC |
| 6 | g.7580187G>C | CA362685317 | DSP | c.3997G>C (p.Glu1333Gln) c.3582+415G>C (n.3582+415G>C) | |
| 6 | g.7580187G>T | CA362685316 | DSP | c.3997G>T (p.Glu1333Ter) c.3582+415G>T (n.3582+415G>T) | |
| 6 | g.7580188A= | CA1608616105 | DSP | c.3998A= (p.Glu1333=) c.3582+416A= (n.3582+416A=) | |
| 6 | g.7580188A>C | CA362685318 | DSP | c.3998A>C (p.Glu1333Ala) c.3582+416A>C (n.3582+416A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7580188A>G | CA362685319 | DSP | c.3998A>G (p.Glu1333Gly) c.3582+416A>G (n.3582+416A>G) | |
| 6 | g.7580188A>T | CA362685320 | DSP | c.3998A>T (p.Glu1333Val) c.3582+416A>T (n.3582+416A>T) | gnomAD v4 |
| 6 | g.7580189G>A | CA448714544 | DSP | c.3999G>A (p.Glu1333=) c.3582+417G>A (n.3582+417G>A) | |
| 6 | g.7580189G>C | CA362685321 | DSP | c.3999G>C (p.Glu1333Asp) c.3582+417G>C (n.3582+417G>C) | |
| 6 | g.7580189G>T | CA362685322 | DSP | c.3999G>T (p.Glu1333Asp) c.3582+417G>T (n.3582+417G>T) | |
| 6 | g.7580190T>A | CA362685323 | DSP | c.4000T>A (p.Phe1334Ile) c.3582+418T>A (n.3582+418T>A) | gnomAD v3 gnomAD v4 |
| 6 | g.7580190T>C | CA362685324 | DSP | c.4000T>C (p.Phe1334Leu) c.3582+418T>C (n.3582+418T>C) | dbSNP |
| 6 | g.7580190T>G | CA362685325 | DSP | c.4000T>G (p.Phe1334Val) c.3582+418T>G (n.3582+418T>G) | |
| 6 | g.7580190T= | CA1608616111 | DSP | c.4000T= (p.Phe1334=) c.3582+418T= (n.3582+418T=) | |
| 6 | g.7580191T>A | CA362685326 | DSP | c.4001T>A (p.Phe1334Tyr) c.3582+419T>A (n.3582+419T>A) | |
| 6 | g.7580191T>C | CA362685327 | DSP | c.4001T>C (p.Phe1334Ser) c.3582+419T>C (n.3582+419T>C) | |
| 6 | g.7580191T>G | CA362685328 | DSP | c.4001T>G (p.Phe1334Cys) c.3582+419T>G (n.3582+419T>G) | |
| 6 | g.7580192T>A | CA362685330 | DSP | c.4002T>A (p.Phe1334Leu) c.3582+420T>A (n.3582+420T>A) | |
| 6 | g.7580192T>C | CA448714548 | DSP | c.4002T>C (p.Phe1334=) c.3582+420T>C (n.3582+420T>C) | |
| 6 | g.7580192T>G | CA362685329 | DSP | c.4002T>G (p.Phe1334Leu) c.3582+420T>G (n.3582+420T>G) | ClinVar dbSNP |
| 6 | g.7580192T= | CA1608616116 | DSP | c.4002T= (p.Phe1334=) c.3582+420T= (n.3582+420T=) | |
| 6 | g.7580193C>A | CA362685331 | DSP | c.4003C>A (p.Gln1335Lys) c.3582+421C>A (n.3582+421C>A) | |
| 6 | g.7580193C= | CA1608616123 | DSP | c.4003C= (p.Gln1335=) c.3582+421C= (n.3582+421C=) | |
| 6 | g.7580193C>G | CA362685332 | DSP | c.4003C>G (p.Gln1335Glu) c.3582+421C>G (n.3582+421C>G) | |
| 6 | g.7580193C>T | CA10586152 | DSP | c.4003C>T (p.Gln1335Ter) c.3582+421C>T (n.3582+421C>T) | ClinVar dbSNP |
| 6 | g.7580193_7580196delinsCAGG | CA1608616126 | DSP | c.4003_4006delinsCAGG (p.Gln1335=) c.3582+421_3582+424delinsCAGG (n.3582+421_3582+424delinsCAGG) | |
| 6 | g.7580194A>C | CA362685333 | DSP | c.4004A>C (p.Gln1335Pro) c.3582+422A>C (n.3582+422A>C) | |
| 6 | g.7580194A>G | CA362685334 | DSP | c.4004A>G (p.Gln1335Arg) c.3582+422A>G (n.3582+422A>G) | |
| 6 | g.7580194A>T | CA362685335 | DSP | c.4004A>T (p.Gln1335Leu) c.3582+422A>T (n.3582+422A>T) | |
| 6 | g.7580200_7580202del | CA565358127 | DSP | c.4010_4012del (p.Glu1337del) c.3582+428_3582+430del (n.3582+428_3582+430del) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7580195G>A | CA039779 | DSP | c.4005G>A (p.Gln1335=) c.3582+423G>A (n.3582+423G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7580195G>C | CA362685336 | DSP | c.4005G>C (p.Gln1335His) c.3582+423G>C (n.3582+423G>C) | |
| 6 | g.7580195G= | CA1608616135 | DSP | c.4005G= (p.Gln1335=) c.3582+423G= (n.3582+423G=) | |
| 6 | g.7580195G>T | CA362685337 | DSP | c.4005G>T (p.Gln1335His) c.3582+423G>T (n.3582+423G>T) | |
| 6 | g.7580196G>A | CA362685338 | DSP | c.4006G>A (p.Glu1336Lys) c.3582+424G>A (n.3582+424G>A) | gnomAD v4 |
| 6 | g.7580196G>C | CA362685339 | DSP | c.4006G>C (p.Glu1336Gln) c.3582+424G>C (n.3582+424G>C) | gnomAD v4 |
| 6 | g.7580196G>T | CA362685340 | DSP | c.4006G>T (p.Glu1336Ter) c.3582+424G>T (n.3582+424G>T) | |
| 6 | g.7580197A>C | CA362685341 | DSP | c.4007A>C (p.Glu1336Ala) c.3582+425A>C (n.3582+425A>C) | |
| 6 | g.7580197A>G | CA362685342 | DSP | c.4007A>G (p.Glu1336Gly) c.3582+425A>G (n.3582+425A>G) | |
| 6 | g.7580197A>T | CA362685343 | DSP | c.4007A>T (p.Glu1336Val) c.3582+425A>T (n.3582+425A>T) | |
| 6 | g.7580197_7580198delinsAG | CA1608616138 | DSP | c.4007_4008delinsAG (p.Glu1336=) c.3582+425_3582+426delinsAG (n.3582+425_3582+426delinsAG) | |
| 6 | g.7580198G>A | CA448714552 | DSP | c.4008G>A (p.Glu1336=) c.3582+426G>A (n.3582+426G>A) | dbSNP |
| 6 | g.7580198G>C | CA362685345 | DSP | c.4008G>C (p.Glu1336Asp) c.3582+426G>C (n.3582+426G>C) | |
| 6 | g.7580198G= | CA1608616147 | DSP | c.4008G= (p.Glu1336=) c.3582+426G= (n.3582+426G=) | |
| 6 | g.7580198G>T | CA362685344 | DSP | c.4008G>T (p.Glu1336Asp) c.3582+426G>T (n.3582+426G>T) | dbSNP |
| 6 | g.7580199del | CA004340 | DSP | c.4009del (p.Glu1337ArgfsTer12) c.3582+427del (n.3582+427del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7580199G>A | CA362685346 | DSP | c.4009G>A (p.Glu1337Lys) c.3582+427G>A (n.3582+427G>A) | |
| 6 | g.7580199G>C | CA362685347 | DSP | c.4009G>C (p.Glu1337Gln) c.3582+427G>C (n.3582+427G>C) | |
| 6 | g.7580199G>T | CA362685348 | DSP | c.4009G>T (p.Glu1337Ter) c.3582+427G>T (n.3582+427G>T) | |
| 6 | g.7580200A>C | CA362685349 | DSP | c.4010A>C (p.Glu1337Ala) c.3582+428A>C (n.3582+428A>C) | |
| 6 | g.7580200A>G | CA362685350 | DSP | c.4010A>G (p.Glu1337Gly) c.3582+428A>G (n.3582+428A>G) | |
| 6 | g.7580200A>T | CA362685351 | DSP | c.4010A>T (p.Glu1337Val) c.3582+428A>T (n.3582+428A>T) | |
| 6 | g.7580201G>A | CA448714556 | DSP | c.4011G>A (p.Glu1337=) c.3582+429G>A (n.3582+429G>A) | gnomAD v4 |
| 6 | g.7580201G>C | CA362685352 | DSP | c.4011G>C (p.Glu1337Asp) c.3582+429G>C (n.3582+429G>C) | dbSNP |
| 6 | g.7580201G= | CA1608616149 | DSP | c.4011G= (p.Glu1337=) c.3582+429G= (n.3582+429G=) | |
| 6 | g.7580201G>T | CA362685353 | DSP | c.4011G>T (p.Glu1337Asp) c.3582+429G>T (n.3582+429G>T) | |
| 6 | g.7580202G>A | CA039803 | DSP | c.4012G>A (p.Ala1338Thr) c.3582+430G>A (n.3582+430G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7580202G>C | CA362685354 | DSP | c.4012G>C (p.Ala1338Pro) c.3582+430G>C (n.3582+430G>C) | |
| 6 | g.7580202G= | CA1608616154 | DSP | c.4012G= (p.Ala1338=) c.3582+430G= (n.3582+430G=) | |
| 6 | g.7580202G>T | CA362685355 | DSP | c.4012G>T (p.Ala1338Ser) c.3582+430G>T (n.3582+430G>T) | |
| 6 | g.7580203C>A | CA362685358 | DSP | c.4013C>A (p.Ala1338Asp) c.3582+431C>A (n.3582+431C>A) | ClinVar dbSNP |
| 6 | g.7580203C>G | CA362685357 | DSP | c.4013C>G (p.Ala1338Gly) c.3582+431C>G (n.3582+431C>G) | gnomAD v4 |
| 6 | g.7580203C>T | CA362685356 | DSP | c.4013C>T (p.Ala1338Val) c.3582+431C>T (n.3582+431C>T) | gnomAD v4 |
| 6 | g.7580204C>A | CA448714564 | DSP | c.4014C>A (p.Ala1338=) c.3582+432C>A (n.3582+432C>A) | |
| 6 | g.7580204C>G | CA448714565 | DSP | c.4014C>G (p.Ala1338=) c.3582+432C>G (n.3582+432C>G) | gnomAD v4 |
| 6 | g.7580204C>T | CA448714567 | DSP | c.4014C>T (p.Ala1338=) c.3582+432C>T (n.3582+432C>T) | ClinVar |
| 6 | g.7580205A= | CA1608616155 | DSP | c.4015A= (p.Lys1339=) c.3582+433A= (n.3582+433A=) | |
| 6 | g.7580205A>C | CA362685359 | DSP | c.4015A>C (p.Lys1339Gln) c.3582+433A>C (n.3582+433A>C) | |
| 6 | g.7580205A>G | CA362685360 | DSP | c.4015A>G (p.Lys1339Glu) c.3582+433A>G (n.3582+433A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7580205A>T | CA362685361 | DSP | c.4015A>T (p.Lys1339Ter) c.3582+433A>T (n.3582+433A>T) | |
| 6 | g.7580206A= | CA1608616157 | DSP | c.4016A= (p.Lys1339=) c.3582+434A= (n.3582+434A=) | |
| 6 | g.7580206A>C | CA362685362 | DSP | c.4016A>C (p.Lys1339Thr) c.3582+434A>C (n.3582+434A>C) | gnomAD v4 |
| 6 | g.7580206A>G | CA362685363 | DSP | c.4016A>G (p.Lys1339Arg) c.3582+434A>G (n.3582+434A>G) | ClinVar dbSNP |
| 6 | g.7580206A>T | CA362685364 | DSP | c.4016A>T (p.Lys1339Met) c.3582+434A>T (n.3582+434A>T) | ClinVar dbSNP |
| 6 | g.7580207G>A | CA448714569 | DSP | c.4017G>A (p.Lys1339=) c.3582+435G>A (n.3582+435G>A) | |
| 6 | g.7580207G>C | CA362685366 | DSP | c.4017G>C (p.Lys1339Asn) c.3582+435G>C (n.3582+435G>C) | |
| 6 | g.7580207G>T | CA362685365 | DSP | c.4017G>T (p.Lys1339Asn) c.3582+435G>T (n.3582+435G>T) |