Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.6023679A>C | CA383512118 | VWF | c.3331T>G (p.Cys1111Gly) n.421-29745T>G | |
12 | g.6023679A>G | CA383512119 | VWF | c.3331T>C (p.Cys1111Arg) n.421-29745T>C | |
12 | g.6023679A>T | CA383512122 | VWF | c.3331T>A (p.Cys1111Ser) n.421-29745T>A | |
12 | g.6023680C>A | CA6402774 | VWF | c.3330G>T (p.Val1110=) n.421-29746G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6023680C= | CA2013874877 | VWF | c.3330G= (p.Val1110=) n.421-29746G= | |
12 | g.6023680C>G | CA478101561 | VWF | c.3330G>C (p.Val1110=) n.421-29746G>C | |
12 | g.6023680C>T | CA478101562 | VWF | c.3330G>A (p.Val1110=) n.421-29746G>A | dbSNP gnomAD v4 |
12 | g.6023681A= | CA2013874878 | VWF | c.3329T= (p.Val1110=) n.421-29747T= | |
12 | g.6023681A>C | CA383512124 | VWF | c.3329T>G (p.Val1110Gly) n.421-29747T>G | |
12 | g.6023681A>G | CA383512125 | VWF | c.3329T>C (p.Val1110Ala) n.421-29747T>C | |
12 | g.6023681A>T | CA6402775 | VWF | c.3329T>A (p.Val1110Glu) n.421-29747T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6023682C>A | CA383512126 | VWF | c.3328G>T (p.Val1110Leu) n.421-29748G>T | gnomAD v4 |
12 | g.6023682C= | CA2013874879 | VWF | c.3328G= (p.Val1110=) n.421-29748G= | |
12 | g.6023682C>G | CA383512127 | VWF | c.3328G>C (p.Val1110Leu) n.421-29748G>C | |
12 | g.6023682C>T | CA6402776 | VWF | c.3328G>A (p.Val1110Met) n.421-29748G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6023683G>A | CA6402777 | VWF | c.3327C>T (p.His1109=) n.421-29749C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6023683G>C | CA383512128 | VWF | c.3327C>G (p.His1109Gln) n.421-29749C>G | |
12 | g.6023683G= | CA2013874880 | VWF | c.3327C= (p.His1109=) n.421-29749C= | |
12 | g.6023683G>T | CA383512129 | VWF | c.3327C>A (p.His1109Gln) n.421-29749C>A | |
12 | g.6023684T>A | CA383512130 | VWF | c.3326A>T (p.His1109Leu) n.421-29750A>T | |
12 | g.6023684T>C | CA6402778 | VWF | c.3326A>G (p.His1109Arg) n.421-29750A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6023684T>G | CA383512131 | VWF | c.3326A>C (p.His1109Pro) n.421-29750A>C | |
12 | g.6023684T= | CA2013874881 | VWF | c.3326A= (p.His1109=) n.421-29750A= | |
12 | g.6023685G>A | CA383512132 | VWF | c.3325C>T (p.His1109Tyr) n.421-29751C>T | |
12 | g.6023685G>C | CA383512133 | VWF | c.3325C>G (p.His1109Asp) n.421-29751C>G | |
12 | g.6023685G>T | CA383512134 | VWF | c.3325C>A (p.His1109Asn) n.421-29751C>A | |
12 | g.6023686G>A | CA478101571 | VWF | c.3324C>T (p.Ala1108=) n.421-29752C>T | dbSNP gnomAD v4 |
12 | g.6023686G>C | CA478101576 | VWF | c.3324C>G (p.Ala1108=) n.421-29752C>G | |
12 | g.6023686G= | CA2013874882 | VWF | c.3324C= (p.Ala1108=) n.421-29752C= | |
12 | g.6023686G>T | CA478101575 | VWF | c.3324C>A (p.Ala1108=) n.421-29752C>A | gnomAD v4 |
12 | g.6023687G>A | CA232298112 | VWF | c.3323C>T (p.Ala1108Val) n.421-29753C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6023687G>C | CA383512136 | VWF | c.3323C>G (p.Ala1108Gly) n.421-29753C>G | |
12 | g.6023687G= | CA2013874883 | VWF | c.3323C= (p.Ala1108=) n.421-29753C= | |
12 | g.6023687G>T | CA383512135 | VWF | c.3323C>A (p.Ala1108Asp) n.421-29753C>A | |
12 | g.6023688C>A | CA383512137 | VWF | c.3322G>T (p.Ala1108Ser) n.421-29754G>T | |
12 | g.6023688C>G | CA383512138 | VWF | c.3322G>C (p.Ala1108Pro) n.421-29754G>C | |
12 | g.6023688C>T | CA383512139 | VWF | c.3322G>A (p.Ala1108Thr) n.421-29754G>A | gnomAD v4 |
12 | g.6023689A= | CA2013874884 | VWF | c.3321T= (p.Tyr1107=) n.421-29755T= | |
12 | g.6023689A>C | CA383512140 | VWF | c.3321T>G (p.Tyr1107Ter) n.421-29755T>G | |
12 | g.6023689A>G | CA232298113 | VWF | c.3321T>C (p.Tyr1107=) n.421-29755T>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6023689A>T | CA383512141 | VWF | c.3321T>A (p.Tyr1107Ter) n.421-29755T>A | |
12 | g.6023690T>A | CA383512142 | VWF | c.3320A>T (p.Tyr1107Phe) n.421-29756A>T | |
12 | g.6023690T>C | CA228392 | VWF | c.3320A>G (p.Tyr1107Cys) n.421-29756A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.6023690T>G | CA383512143 | VWF | c.3320A>C (p.Tyr1107Ser) n.421-29756A>C | |
12 | g.6023690T= | CA2013874885 | VWF | c.3320A= (p.Tyr1107=) n.421-29756A= | |
12 | g.6023691A= | CA2013874886 | VWF | c.3319T= (p.Tyr1107=) n.421-29757T= | |
12 | g.6023691A>C | CA383512144 | VWF | c.3319T>G (p.Tyr1107Asp) n.421-29757T>G | |
12 | g.6023691A>G | CA383512145 | VWF | c.3319T>C (p.Tyr1107His) n.421-29757T>C | dbSNP |
12 | g.6023691A>T | CA383512146 | VWF | c.3319T>A (p.Tyr1107Asn) n.421-29757T>A | gnomAD v4 |
12 | g.6023691dup | CA2617230399 | VWF | c.3319dup (p.Tyr1107LeufsTer?) n.421-29757dup | gnomAD v4 |
12 | g.6023692G>A | CA478101579 | VWF | c.3318C>T (p.Ala1106=) n.421-29758C>T | dbSNP |
12 | g.6023692G>C | CA478101580 | VWF | c.3318C>G (p.Ala1106=) n.421-29758C>G | |
12 | g.6023692G= | CA2013874887 | VWF | c.3318C= (p.Ala1106=) n.421-29758C= | |
12 | g.6023692G>T | CA478101581 | VWF | c.3318C>A (p.Ala1106=) n.421-29758C>A | |
12 | g.6023693del | CA478101582 | VWF | c.3318del (p.Tyr1107MetfsTer12) n.421-29758del | COSMIC |
12 | g.6023693G>A | CA383512148 | VWF | c.3317C>T (p.Ala1106Val) n.421-29759C>T | |
12 | g.6023693G>C | CA383512149 | VWF | c.3317C>G (p.Ala1106Gly) n.421-29759C>G | |
12 | g.6023693G>T | CA383512147 | VWF | c.3317C>A (p.Ala1106Asp) n.421-29759C>A | |
12 | g.6023694C>A | CA383512150 | VWF | c.3316G>T (p.Ala1106Ser) n.421-29760G>T | COSMIC |
12 | g.6023694C>G | CA383512151 | VWF | c.3316G>C (p.Ala1106Pro) n.421-29760G>C | |
12 | g.6023694C>T | CA383512152 | VWF | c.3316G>A (p.Ala1106Thr) n.421-29760G>A | |
12 | g.6023695A>C | CA478101583 | VWF | c.3315T>G (p.Ala1105=) n.421-29761T>G | |
12 | g.6023695A>G | CA478101584 | VWF | c.3315T>C (p.Ala1105=) n.421-29761T>C | |
12 | g.6023695A>T | CA478101586 | VWF | c.3315T>A (p.Ala1105=) n.421-29761T>A | |
12 | g.6023696G>A | CA383512153 | VWF | c.3314C>T (p.Ala1105Val) n.421-29762C>T | |
12 | g.6023696G>C | CA383512154 | VWF | c.3314C>G (p.Ala1105Gly) n.421-29762C>G | |
12 | g.6023696G= | CA2013874888 | VWF | c.3314C= (p.Ala1105=) n.421-29762C= | |
12 | g.6023696G>T | CA383512155 | VWF | c.3314C>A (p.Ala1105Asp) n.421-29762C>A | ClinVar dbSNP |
12 | g.6023697C>A | CA383512156 | VWF | c.3313G>T (p.Ala1105Ser) n.421-29763G>T | |
12 | g.6023697C>G | CA383512158 | VWF | c.3313G>C (p.Ala1105Pro) n.421-29763G>C | |
12 | g.6023697C>T | CA383512157 | VWF | c.3313G>A (p.Ala1105Thr) n.421-29763G>A | |
12 | g.6023698A>C | CA383512159 | VWF | c.3312T>G (p.Ile1104Met) n.421-29764T>G | |
12 | g.6023698A>G | CA478101594 | VWF | c.3312T>C (p.Ile1104=) n.421-29764T>C | |
12 | g.6023698A>T | CA478101595 | VWF | c.3312T>A (p.Ile1104=) n.421-29764T>A | |
12 | g.6023699A>C | CA383512160 | VWF | c.3311T>G (p.Ile1104Ser) n.421-29765T>G | |
12 | g.6023699A>G | CA383512161 | VWF | c.3311T>C (p.Ile1104Thr) n.421-29765T>C | |
12 | g.6023699A>T | CA383512162 | VWF | c.3311T>A (p.Ile1104Asn) n.421-29765T>A | |
12 | g.6023700T>A | CA383512165 | VWF | c.3310A>T (p.Ile1104Phe) n.421-29766A>T | |
12 | g.6023700T>C | CA383512164 | VWF | c.3310A>G (p.Ile1104Val) n.421-29766A>G | gnomAD v4 |
12 | g.6023700T>G | CA383512163 | VWF | c.3310A>C (p.Ile1104Leu) n.421-29766A>C | |
12 | g.6023701G>A | CA478101598 | VWF | c.3309C>T (p.Thr1103=) n.421-29767C>T | gnomAD v4 |
12 | g.6023701G>C | CA478101599 | VWF | c.3309C>G (p.Thr1103=) n.421-29767C>G | |
12 | g.6023701G>T | CA478101600 | VWF | c.3309C>A (p.Thr1103=) n.421-29767C>A | |
12 | g.6023702G>A | CA383512166 | VWF | c.3308C>T (p.Thr1103Ile) n.421-29768C>T | |
12 | g.6023702G>C | CA383512168 | VWF | c.3308C>G (p.Thr1103Ser) n.421-29768C>G | |
12 | g.6023702G>T | CA383512167 | VWF | c.3308C>A (p.Thr1103Asn) n.421-29768C>A | |
12 | g.6023703T>A | CA383512169 | VWF | c.3307A>T (p.Thr1103Ser) n.421-29769A>T | gnomAD v4 |
12 | g.6023703T>C | CA383512170 | VWF | c.3307A>G (p.Thr1103Ala) n.421-29769A>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6023703T>G | CA232298114 | VWF | c.3307A>C (p.Thr1103Pro) n.421-29769A>C | dbSNP |
12 | g.6023703T= | CA2013874889 | VWF | c.3307A= (p.Thr1103=) n.421-29769A= | |
12 | g.6023703_6023725delinsGGA | CA2499221805 | VWF | c.3285_3307delinsTCC (p.Asp1096ProfsTer?) n.421-29791_421-29769delinsTCC | ClinVar dbSNP |
12 | g.6023704G>A | CA478101602 | VWF | c.3306C>T (p.Asp1102=) n.421-29770C>T | |
12 | g.6023704G>C | CA383512171 | VWF | c.3306C>G (p.Asp1102Glu) n.421-29770C>G | |
12 | g.6023704G>T | CA383512172 | VWF | c.3306C>A (p.Asp1102Glu) n.421-29770C>A | |
12 | g.6023705T>A | CA383512173 | VWF | c.3305A>T (p.Asp1102Val) n.421-29771A>T | |
12 | g.6023705T>C | CA383512174 | VWF | c.3305A>G (p.Asp1102Gly) n.421-29771A>G | |
12 | g.6023705T>G | CA383512175 | VWF | c.3305A>C (p.Asp1102Ala) n.421-29771A>C | |
12 | g.6023706C>A | CA383512176 | VWF | c.3304G>T (p.Asp1102Tyr) n.421-29772G>T | |
12 | g.6023706C= | CA2013874890 | VWF | c.3304G= (p.Asp1102=) n.421-29772G= | |
12 | g.6023706C>G | CA383512177 | VWF | c.3304G>C (p.Asp1102His) n.421-29772G>C | |
12 | g.6023706C>T | CA6402779 | VWF | c.3304G>A (p.Asp1102Asn) n.421-29772G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6023707G>A | CA6402780 | VWF | c.3303C>T (p.Cys1101=) n.421-29773C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6023707G>C | CA228390 | VWF | c.3303C>G (p.Cys1101Trp) n.421-29773C>G | ClinVar dbSNP |
12 | g.6023707G= | CA2013874891 | VWF | c.3303C= (p.Cys1101=) n.421-29773C= | |
12 | g.6023707G>T | CA383512178 | VWF | c.3303C>A (p.Cys1101Ter) n.421-29773C>A | gnomAD v4 |
12 | g.6023708C>A | CA383512179 | VWF | c.3302G>T (p.Cys1101Phe) n.421-29774G>T | COSMIC |
12 | g.6023708C>G | CA383512180 | VWF | c.3302G>C (p.Cys1101Ser) n.421-29774G>C | |
12 | g.6023708C>T | CA383512181 | VWF | c.3302G>A (p.Cys1101Tyr) n.421-29774G>A | |
12 | g.6023709A= | CA2013874892 | VWF | c.3301T= (p.Cys1101=) n.421-29775T= | |
12 | g.6023709A>C | CA232298115 | VWF | c.3301T>G (p.Cys1101Gly) n.421-29775T>G | dbSNP gnomAD v4 |
12 | g.6023709A>G | CA228388 | VWF | c.3301T>C (p.Cys1101Arg) n.421-29775T>C | ClinVar dbSNP |
12 | g.6023709A>T | CA383512182 | VWF | c.3301T>A (p.Cys1101Ser) n.421-29775T>A | |
12 | g.6023710G>A | CA478101611 | VWF | c.3300C>T (p.Phe1100=) n.421-29776C>T | gnomAD v4 COSMIC |
12 | g.6023710G>C | CA383512183 | VWF | c.3300C>G (p.Phe1100Leu) n.421-29776C>G | |
12 | g.6023710G>T | CA383512184 | VWF | c.3300C>A (p.Phe1100Leu) n.421-29776C>A | |
12 | g.6023711A>C | CA383512185 | VWF | c.3299T>G (p.Phe1100Cys) n.421-29777T>G | |
12 | g.6023711A>G | CA383512186 | VWF | c.3299T>C (p.Phe1100Ser) n.421-29777T>C | gnomAD v4 |
12 | g.6023711A>T | CA383512187 | VWF | c.3299T>A (p.Phe1100Tyr) n.421-29777T>A | |
12 | g.6023712A>C | CA383512189 | VWF | c.3298T>G (p.Phe1100Val) n.421-29778T>G | |
12 | g.6023712A>G | CA383512190 | VWF | c.3298T>C (p.Phe1100Leu) n.421-29778T>C | |
12 | g.6023712A>T | CA383512188 | VWF | c.3298T>A (p.Phe1100Ile) n.421-29778T>A | |
12 | g.6023718_6023747del | CA2695216052 | VWF | c.3269_3298del (p.Ser1090_Cys1099del) n.421-29807_421-29778del | |
12 | g.6023713G>A | CA478101613 | VWF | c.3297C>T (p.Cys1099=) n.421-29779C>T | |
12 | g.6023713G>C | CA383512191 | VWF | c.3297C>G (p.Cys1099Trp) n.421-29779C>G | |
12 | g.6023713G>T | CA383512192 | VWF | c.3297C>A (p.Cys1099Ter) n.421-29779C>A | |
12 | g.6023714C>A | CA383512193 | VWF | c.3296G>T (p.Cys1099Phe) n.421-29780G>T | |
12 | g.6023714C= | CA2013874893 | VWF | c.3296G= (p.Cys1099=) n.421-29780G= | |
12 | g.6023714C>G | CA383512194 | VWF | c.3296G>C (p.Cys1099Ser) n.421-29780G>C | |
12 | g.6023714C>T | CA383512195 | VWF | c.3296G>A (p.Cys1099Tyr) n.421-29780G>A | dbSNP |
12 | g.6023714_6023715delinsGG | CA2695216053 | VWF | c.3295_3296delinsCC (p.Cys1099Pro) n.421-29781_421-29780delinsCC | |
12 | g.6023715A>C | CA383512198 | VWF | c.3295T>G (p.Cys1099Gly) n.421-29781T>G | |
12 | g.6023715A>G | CA383512197 | VWF | c.3295T>C (p.Cys1099Arg) n.421-29781T>C | |
12 | g.6023715A>T | CA383512196 | VWF | c.3295T>A (p.Cys1099Ser) n.421-29781T>A | |
12 | g.6023716G>A | CA478101614 | VWF | c.3294C>T (p.Ala1098=) n.421-29782C>T | |
12 | g.6023716G>C | CA478101615 | VWF | c.3294C>G (p.Ala1098=) n.421-29782C>G | gnomAD v4 |
12 | g.6023716G>T | CA478101617 | VWF | c.3294C>A (p.Ala1098=) n.421-29782C>A | |
12 | g.6023717G>A | CA383512199 | VWF | c.3293C>T (p.Ala1098Val) n.421-29783C>T | |
12 | g.6023717G>C | CA383512200 | VWF | c.3293C>G (p.Ala1098Gly) n.421-29783C>G | |
12 | g.6023717G>T | CA383512201 | VWF | c.3293C>A (p.Ala1098Asp) n.421-29783C>A | |
12 | g.6023718C>A | CA383512202 | VWF | c.3292G>T (p.Ala1098Ser) n.421-29784G>T | gnomAD v4 |
12 | g.6023718C= | CA2013874894 | VWF | c.3292G= (p.Ala1098=) n.421-29784G= | |
12 | g.6023718C>G | CA383512203 | VWF | c.3292G>C (p.Ala1098Pro) n.421-29784G>C | |
12 | g.6023718C>T | CA6402781 | VWF | c.3292G>A (p.Ala1098Thr) n.421-29784G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.6023719G>A | CA6402782 | VWF | c.3291C>T (p.Cys1097=) n.421-29785C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6023719G>C | CA383512205 | VWF | c.3291C>G (p.Cys1097Trp) n.421-29785C>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6023719G= | CA2013874895 | VWF | c.3291C= (p.Cys1097=) n.421-29785C= | |
12 | g.6023719G>T | CA383512204 | VWF | c.3291C>A (p.Cys1097Ter) n.421-29785C>A | |
12 | g.6023720C>A | CA383512206 | VWF | c.3290G>T (p.Cys1097Phe) n.421-29786G>T | |
12 | g.6023720C= | CA2013874897 | VWF | c.3290G= (p.Cys1097=) n.421-29786G= | |
12 | g.6023720C>G | CA383512207 | VWF | c.3290G>C (p.Cys1097Ser) n.421-29786G>C | |
12 | g.6023720C>T | CA232298116 | VWF | c.3290G>A (p.Cys1097Tyr) n.421-29786G>A | dbSNP |
12 | g.6023721A>C | CA383512208 | VWF | c.3289T>G (p.Cys1097Gly) n.421-29787T>G | |
12 | g.6023721A>G | CA383512209 | VWF | c.3289T>C (p.Cys1097Arg) n.421-29787T>C | gnomAD v4 |
12 | g.6023721A>T | CA383512210 | VWF | c.3289T>A (p.Cys1097Ser) n.421-29787T>A | |
12 | g.6023722G>A | CA478101623 | VWF | c.3288C>T (p.Asp1096=) n.421-29788C>T | |
12 | g.6023722G>C | CA383512211 | VWF | c.3288C>G (p.Asp1096Glu) n.421-29788C>G | |
12 | g.6023722G>T | CA383512212 | VWF | c.3288C>A (p.Asp1096Glu) n.421-29788C>A | |
12 | g.6023723T>A | CA383512213 | VWF | c.3287A>T (p.Asp1096Val) n.421-29789A>T | |
12 | g.6023723T>C | CA383512214 | VWF | c.3287A>G (p.Asp1096Gly) n.421-29789A>G | |
12 | g.6023723T>G | CA383512215 | VWF | c.3287A>C (p.Asp1096Ala) n.421-29789A>C | |
12 | g.6023724C>A | CA383512217 | VWF | c.3286G>T (p.Asp1096Tyr) n.421-29790G>T | gnomAD v4 |
12 | g.6023724C= | CA2013874900 | VWF | c.3286G= (p.Asp1096=) n.421-29790G= | |
12 | g.6023724C>G | CA383512216 | VWF | c.3286G>C (p.Asp1096His) n.421-29790G>C | ClinVar dbSNP gnomAD v4 |
12 | g.6023724C>T | CA6402783 | VWF | c.3286G>A (p.Asp1096Asn) n.421-29790G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6023725C>A | CA478101626 | VWF | c.3285G>T (p.Gly1095=) n.421-29791G>T | |
12 | g.6023725C= | CA2013874902 | VWF | c.3285G= (p.Gly1095=) n.421-29791G= | |
12 | g.6023725C>G | CA478101627 | VWF | c.3285G>C (p.Gly1095=) n.421-29791G>C | |
12 | g.6023725C>T | CA478101628 | VWF | c.3285G>A (p.Gly1095=) n.421-29791G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6023726C>A | CA383512218 | VWF | c.3284G>T (p.Gly1095Val) n.421-29792G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6023726C= | CA2013874903 | VWF | c.3284G= (p.Gly1095=) n.421-29792G= | |
12 | g.6023726C>G | CA383512220 | VWF | c.3284G>C (p.Gly1095Ala) n.421-29792G>C | |
12 | g.6023726C>T | CA383512219 | VWF | c.3284G>A (p.Gly1095Glu) n.421-29792G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6023727C>A | CA383512221 | VWF | c.3283G>T (p.Gly1095Trp) n.421-29793G>T | gnomAD v4 |
12 | g.6023727C>G | CA383512223 | VWF | c.3283G>C (p.Gly1095Arg) n.421-29793G>C | |
12 | g.6023727C>T | CA383512222 | VWF | c.3283G>A (p.Gly1095Arg) n.421-29793G>A | |
12 | g.6023728A>C | CA383512224 | VWF | c.3282T>G (p.Ile1094Met) n.421-29794T>G | gnomAD v4 |
12 | g.6023728A>G | CA478101630 | VWF | c.3282T>C (p.Ile1094=) n.421-29794T>C | |
12 | g.6023728A>T | CA478101631 | VWF | c.3282T>A (p.Ile1094=) n.421-29794T>A | gnomAD v4 |
12 | g.6023729A= | CA2013874906 | VWF | c.3281T= (p.Ile1094=) n.421-29795T= | |
12 | g.6023729A>C | CA383512226 | VWF | c.3281T>G (p.Ile1094Ser) n.421-29795T>G | COSMIC |
12 | g.6023729A>G | CA228386 | VWF | c.3281T>C (p.Ile1094Thr) n.421-29795T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6023729A>T | CA383512225 | VWF | c.3281T>A (p.Ile1094Asn) n.421-29795T>A | |
12 | g.6023730T>A | CA383512227 | VWF | c.3280A>T (p.Ile1094Phe) n.421-29796A>T | |
12 | g.6023730T>C | CA383512228 | VWF | c.3280A>G (p.Ile1094Val) n.421-29796A>G | |
12 | g.6023730T>G | CA383512229 | VWF | c.3280A>C (p.Ile1094Leu) n.421-29796A>C | |
12 | g.6023731G>A | CA478101635 | VWF | c.3279C>T (p.Ser1093=) n.421-29797C>T | gnomAD v4 |
12 | g.6023731G>C | CA478101636 | VWF | c.3279C>G (p.Ser1093=) n.421-29797C>G | |
12 | g.6023731G>T | CA478101637 | VWF | c.3279C>A (p.Ser1093=) n.421-29797C>A | |
12 | g.6023732G>A | CA383512230 | VWF | c.3278C>T (p.Ser1093Phe) n.421-29798C>T | |
12 | g.6023732G>C | CA383512231 | VWF | c.3278C>G (p.Ser1093Cys) n.421-29798C>G | |
12 | g.6023732G>T | CA383512232 | VWF | c.3278C>A (p.Ser1093Tyr) n.421-29798C>A | |
12 | g.6023733A>C | CA383512233 | VWF | c.3277T>G (p.Ser1093Ala) n.421-29799T>G | |
12 | g.6023733A>G | CA383512234 | VWF | c.3277T>C (p.Ser1093Pro) n.421-29799T>C | |
12 | g.6023733A>T | CA383512235 | VWF | c.3277T>A (p.Ser1093Thr) n.421-29799T>A | |
12 | g.6023734C>A | CA383512237 | VWF | c.3276G>T (p.Glu1092Asp) n.421-29800G>T | |
12 | g.6023734C>G | CA383512236 | VWF | c.3276G>C (p.Glu1092Asp) n.421-29800G>C | gnomAD v4 |
12 | g.6023734C>T | CA478101641 | VWF | c.3276G>A (p.Glu1092=) n.421-29800G>A | |
12 | g.6023735T>A | CA383512238 | VWF | c.3275A>T (p.Glu1092Val) n.421-29801A>T | |
12 | g.6023735T>C | CA383512239 | VWF | c.3275A>G (p.Glu1092Gly) n.421-29801A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6023735T>G | CA383512240 | VWF | c.3275A>C (p.Glu1092Ala) n.421-29801A>C | |
12 | g.6023735T= | CA2013874907 | VWF | c.3275A= (p.Glu1092=) n.421-29801A= | |
12 | g.6023736C>A | CA383512241 | VWF | c.3274G>T (p.Glu1092Ter) n.421-29802G>T | |
12 | g.6023736C>G | CA383512242 | VWF | c.3274G>C (p.Glu1092Gln) n.421-29802G>C | |
12 | g.6023736C>T | CA383512243 | VWF | c.3274G>A (p.Glu1092Lys) n.421-29802G>A | |
12 | g.6023737A>C | CA383512244 | VWF | c.3273T>G (p.Cys1091Trp) n.421-29803T>G | |
12 | g.6023737A>G | CA478101645 | VWF | c.3273T>C (p.Cys1091=) n.421-29803T>C | |
12 | g.6023737A>T | CA383512245 | VWF | c.3273T>A (p.Cys1091Ter) n.421-29803T>A | |
12 | g.6023738C>A | CA383512246 | VWF | c.3272G>T (p.Cys1091Phe) n.421-29804G>T | |
12 | g.6023738C>G | CA383512247 | VWF | c.3272G>C (p.Cys1091Ser) n.421-29804G>C | |
12 | g.6023738C>T | CA383512248 | VWF | c.3272G>A (p.Cys1091Tyr) n.421-29804G>A | |
12 | g.6023739A>C | CA383512250 | VWF | c.3271T>G (p.Cys1091Gly) n.421-29805T>G | |
12 | g.6023739A>G | CA383512251 | VWF | c.3271T>C (p.Cys1091Arg) n.421-29805T>C | gnomAD v4 |
12 | g.6023739A>T | CA383512249 | VWF | c.3271T>A (p.Cys1091Ser) n.421-29805T>A | |
12 | g.6023739_6023740delinsAG | CA2013874909 | VWF | c.3270_3271delinsCT (p.Ser1090=) n.421-29806_421-29805delinsCT | |
12 | g.6023740G>A | CA478101651 | VWF | c.3270C>T (p.Ser1090=) n.421-29806C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6023740G>C | CA478101650 | VWF | c.3270C>G (p.Ser1090=) n.421-29806C>G | |
12 | g.6023740G= | CA2013874911 | VWF | c.3270C= (p.Ser1090=) n.421-29806C= | |
12 | g.6023740G>T | CA478101653 | VWF | c.3270C>A (p.Ser1090=) n.421-29806C>A | COSMIC |
12 | g.6023741del | CA6402784 | VWF | c.3270del (p.Cys1091ValfsTer28) n.421-29806del | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6023741G>A | CA6402785 | VWF | c.3269C>T (p.Ser1090Phe) n.421-29807C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6023741G>C | CA383512252 | VWF | c.3269C>G (p.Ser1090Cys) n.421-29807C>G | |
12 | g.6023741G= | CA2013874913 | VWF | c.3269C= (p.Ser1090=) n.421-29807C= | |
12 | g.6023741G>T | CA383512253 | VWF | c.3269C>A (p.Ser1090Tyr) n.421-29807C>A | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6023742A>C | CA383512254 | VWF | c.3268T>G (p.Ser1090Ala) n.421-29808T>G | |
12 | g.6023742A>G | CA383512255 | VWF | c.3268T>C (p.Ser1090Pro) n.421-29808T>C | |
12 | g.6023742A>T | CA383512256 | VWF | c.3268T>A (p.Ser1090Thr) n.421-29808T>A | |
12 | g.6023744_6023746del | CA2794406197 | VWF | c.3266_3268del (p.Cys1089del) n.421-29810_421-29808del | |
12 | g.6023743G>A | CA478101655 | VWF | c.3267C>T (p.Cys1089=) n.421-29809C>T | gnomAD v4 |
12 | g.6023743G>C | CA383512257 | VWF | c.3267C>G (p.Cys1089Trp) n.421-29809C>G | |
12 | g.6023743G>T | CA383512258 | VWF | c.3267C>A (p.Cys1089Ter) n.421-29809C>A | |
12 | g.6023744C>A | CA383512259 | VWF | c.3266G>T (p.Cys1089Phe) n.421-29810G>T | |
12 | g.6023744C>G | CA383512260 | VWF | c.3266G>C (p.Cys1089Ser) n.421-29810G>C | |
12 | g.6023744C>T | CA383512261 | VWF | c.3266G>A (p.Cys1089Tyr) n.421-29810G>A | gnomAD v4 |
12 | g.6023745A>C | CA383512264 | VWF | c.3265T>G (p.Cys1089Gly) n.421-29811T>G | |
12 | g.6023745A>G | CA383512262 | VWF | c.3265T>C (p.Cys1089Arg) n.421-29811T>C | |
12 | g.6023745A>T | CA383512263 | VWF | c.3265T>A (p.Cys1089Ser) n.421-29811T>A | |
12 | g.6023746G>A | CA6402786 | VWF | c.3264C>T (p.Thr1088=) n.421-29812C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6023746G>C | CA478101663 | VWF | c.3264C>G (p.Thr1088=) n.421-29812C>G | gnomAD v4 |
12 | g.6023746G= | CA2013874915 | VWF | c.3264C= (p.Thr1088=) n.421-29812C= | |
12 | g.6023746G>T | CA478101665 | VWF | c.3264C>A (p.Thr1088=) n.421-29812C>A | |
12 | g.6023747G>A | CA383512265 | VWF | c.3263C>T (p.Thr1088Ile) n.421-29813C>T | gnomAD v4 |
12 | g.6023747G>C | CA383512266 | VWF | c.3263C>G (p.Thr1088Ser) n.421-29813C>G | |
12 | g.6023747G>T | CA383512267 | VWF | c.3263C>A (p.Thr1088Asn) n.421-29813C>A | |
12 | g.6023748T>A | CA383512268 | VWF | c.3262A>T (p.Thr1088Ser) n.421-29814A>T | |
12 | g.6023748T>C | CA383512269 | VWF | c.3262A>G (p.Thr1088Ala) n.421-29814A>G | |
12 | g.6023748T>G | CA383512270 | VWF | c.3262A>C (p.Thr1088Pro) n.421-29814A>C | dbSNP |
12 | g.6023748T= | CA2013874918 | VWF | c.3262A= (p.Thr1088=) n.421-29814A= | |
12 | g.6023748_6023751delinsTGTC | CA2013874917 | VWF | c.3259_3262delinsGACA (p.Asp1087=) n.421-29817_421-29814delinsGACA | |
12 | g.6023749G>A | CA478101669 | VWF | c.3261C>T (p.Asp1087=) n.421-29815C>T | gnomAD v4 |
12 | g.6023749G>C | CA383512271 | VWF | c.3261C>G (p.Asp1087Glu) n.421-29815C>G | |
12 | g.6023749G>T | CA383512272 | VWF | c.3261C>A (p.Asp1087Glu) n.421-29815C>A | |
12 | g.6023751_6023753del | CA603483077 | VWF | c.3259_3261del (p.Asp1087del) n.421-29817_421-29815del | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6023750T>A | CA383512273 | VWF | c.3260A>T (p.Asp1087Val) n.421-29816A>T | |
12 | g.6023750T>C | CA383512274 | VWF | c.3260A>G (p.Asp1087Gly) n.421-29816A>G | |
12 | g.6023750T>G | CA383512275 | VWF | c.3260A>C (p.Asp1087Ala) n.421-29816A>C | |
12 | g.6023751C>A | CA383512276 | VWF | c.3259G>T (p.Asp1087Tyr) n.421-29817G>T | |
12 | g.6023751C= | CA2013874921 | VWF | c.3259G= (p.Asp1087=) n.421-29817G= | |
12 | g.6023751C>G | CA383512277 | VWF | c.3259G>C (p.Asp1087His) n.421-29817G>C | gnomAD v4 |
12 | g.6023751C>T | CA6402787 | VWF | c.3259G>A (p.Asp1087Asn) n.421-29817G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.6023751_6023752insA | CA2695216054 | VWF | c.3258_3259insT (p.Asp1087Ter) n.421-29818_421-29817insT | |
12 | g.6023752G>A | CA6402788 | VWF | c.3258C>T (p.Tyr1086=) n.421-29818C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6023752G>C | CA383512278 | VWF | c.3258C>G (p.Tyr1086Ter) n.421-29818C>G | |
12 | g.6023752G= | CA2013874923 | VWF | c.3258C= (p.Tyr1086=) n.421-29818C= | |
12 | g.6023752G>T | CA383512279 | VWF | c.3258C>A (p.Tyr1086Ter) n.421-29818C>A | |
12 | g.6023753T>A | CA383512280 | VWF | c.3257A>T (p.Tyr1086Phe) n.421-29819A>T | |
12 | g.6023753T>C | CA383512281 | VWF | c.3257A>G (p.Tyr1086Cys) n.421-29819A>G | gnomAD v4 |
12 | g.6023753T>G | CA383512282 | VWF | c.3257A>C (p.Tyr1086Ser) n.421-29819A>C | |
12 | g.6023753_6023754delinsTA | CA2013874925 | VWF | c.3256_3257delinsTA (p.Tyr1086=) n.421-29820_421-29819delinsTA | |
12 | g.6023754A>C | CA383512283 | VWF | c.3256T>G (p.Tyr1086Asp) n.421-29820T>G | |
12 | g.6023754A>G | CA383512284 | VWF | c.3256T>C (p.Tyr1086His) n.421-29820T>C | |
12 | g.6023754A>T | CA383512285 | VWF | c.3256T>A (p.Tyr1086Asn) n.421-29820T>A | |
12 | g.6023756del | CA690482698 | VWF | c.3256del (p.Tyr1086ThrfsTer?) n.421-29820del | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6023755A>C | CA383512286 | VWF | c.3255T>G (p.Ile1085Met) n.421-29821T>G | |
12 | g.6023755A>G | CA478101676 | VWF | c.3255T>C (p.Ile1085=) n.421-29821T>C | |
12 | g.6023755A>T | CA478101675 | VWF | c.3255T>A (p.Ile1085=) n.421-29821T>A | |
12 | g.6023756A>C | CA383512287 | VWF | c.3254T>G (p.Ile1085Ser) n.421-29822T>G | |
12 | g.6023756A>G | CA383512288 | VWF | c.3254T>C (p.Ile1085Thr) n.421-29822T>C | |
12 | g.6023756A>T | CA383512289 | VWF | c.3254T>A (p.Ile1085Asn) n.421-29822T>A | |
12 | g.6023757T>A | CA383512292 | VWF | c.3253A>T (p.Ile1085Phe) n.421-29823A>T | |
12 | g.6023757T>C | CA383512291 | VWF | c.3253A>G (p.Ile1085Val) n.421-29823A>G | |
12 | g.6023757T>G | CA383512290 | VWF | c.3253A>C (p.Ile1085Leu) n.421-29823A>C | |
12 | g.6023757_6023758delinsTG | CA2013874927 | VWF | c.3252_3253delinsCA (p.Cys1084=) n.421-29824_421-29823delinsCA | |
12 | g.6023758del | CA6402789 | VWF | c.3252del (p.Cys1084Ter) n.421-29824del | dbSNP ExAC gnomAD v2 |
12 | g.6023758G>A | CA478101679 | VWF | c.3252C>T (p.Cys1084=) n.421-29824C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6023758G>C | CA383512293 | VWF | c.3252C>G (p.Cys1084Trp) n.421-29824C>G | |
12 | g.6023758G= | CA2013874929 | VWF | c.3252C= (p.Cys1084=) n.421-29824C= | |
12 | g.6023758G>T | CA383512294 | VWF | c.3252C>A (p.Cys1084Ter) n.421-29824C>A | |
12 | g.6023759C>A | CA383512295 | VWF | c.3251G>T (p.Cys1084Phe) n.421-29825G>T | |
12 | g.6023759C= | CA2013874931 | VWF | c.3251G= (p.Cys1084=) n.421-29825G= | |
12 | g.6023759C>G | CA383512296 | VWF | c.3251G>C (p.Cys1084Ser) n.421-29825G>C | |
12 | g.6023759C>T | CA6402790 | VWF | c.3251G>A (p.Cys1084Tyr) n.421-29825G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6023760A>C | CA383512297 | VWF | c.3250T>G (p.Cys1084Gly) n.421-29826T>G | |
12 | g.6023760A>G | CA383512298 | VWF | c.3250T>C (p.Cys1084Arg) n.421-29826T>C | |
12 | g.6023760A>T | CA383512299 | VWF | c.3250T>A (p.Cys1084Ser) n.421-29826T>A | |
12 | g.6023761G>A | CA478101684 | VWF | c.3249C>T (p.Val1083=) n.421-29827C>T | dbSNP |
12 | g.6023761G>C | CA478101688 | VWF | c.3249C>G (p.Val1083=) n.421-29827C>G | |
12 | g.6023761G= | CA2013874934 | VWF | c.3249C= (p.Val1083=) n.421-29827C= | |
12 | g.6023761G>T | CA478101685 | VWF | c.3249C>A (p.Val1083=) n.421-29827C>A | |
12 | g.6023762A= | CA2013874936 | VWF | c.3248T= (p.Val1083=) n.421-29828T= | |
12 | g.6023762A>C | CA383512300 | VWF | c.3248T>G (p.Val1083Gly) n.421-29828T>G | |
12 | g.6023762A>G | CA383512301 | VWF | c.3248T>C (p.Val1083Ala) n.421-29828T>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6023762A>T | CA383512302 | VWF | c.3248T>A (p.Val1083Asp) n.421-29828T>A | |
12 | g.6023763C>A | CA383512305 | VWF | c.3247G>T (p.Val1083Phe) n.421-29829G>T | |
12 | g.6023763C>G | CA383512304 | VWF | c.3247G>C (p.Val1083Leu) n.421-29829G>C | |
12 | g.6023763C>T | CA383512303 | VWF | c.3247G>A (p.Val1083Ile) n.421-29829G>A | ClinVar gnomAD v4 |
12 | g.6023764A>C | CA383512306 | VWF | c.3246T>G (p.Asp1082Glu) n.421-29830T>G | |
12 | g.6023764A>G | CA478101691 | VWF | c.3246T>C (p.Asp1082=) n.421-29830T>C | |
12 | g.6023764A>T | CA383512307 | VWF | c.3246T>A (p.Asp1082Glu) n.421-29830T>A | |
12 | g.6023765T>A | CA383512308 | VWF | c.3245A>T (p.Asp1082Val) n.421-29831A>T | |
12 | g.6023765T>C | CA6402791 | VWF | c.3245A>G (p.Asp1082Gly) n.421-29831A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6023765T>G | CA383512309 | VWF | c.3245A>C (p.Asp1082Ala) n.421-29831A>C | |
12 | g.6023765T= | CA2013874937 | VWF | c.3245A= (p.Asp1082=) n.421-29831A= | |
12 | g.6023766C>A | CA383512310 | VWF | c.3244G>T (p.Asp1082Tyr) n.421-29832G>T | |
12 | g.6023766C>G | CA383512311 | VWF | c.3244G>C (p.Asp1082His) n.421-29832G>C | |
12 | g.6023766C>T | CA383512312 | VWF | c.3244G>A (p.Asp1082Asn) n.421-29832G>A | |
12 | g.6023767C>A | CA478101694 | VWF | c.3243G>T (p.Leu1081=) n.421-29833G>T | |
12 | g.6023767C>G | CA478101696 | VWF | c.3243G>C (p.Leu1081=) n.421-29833G>C | |
12 | g.6023767C>T | CA478101695 | VWF | c.3243G>A (p.Leu1081=) n.421-29833G>A | |
12 | g.6023768A>C | CA383512313 | VWF | c.3242T>G (p.Leu1081Arg) n.421-29834T>G | |
12 | g.6023768A>G | CA383512314 | VWF | c.3242T>C (p.Leu1081Pro) n.421-29834T>C | |
12 | g.6023768A>T | CA383512315 | VWF | c.3242T>A (p.Leu1081Gln) n.421-29834T>A | |
12 | g.6023769G>A | CA478101698 | VWF | c.3241C>T (p.Leu1081=) n.421-29835C>T | |
12 | g.6023769G>C | CA383512316 | VWF | c.3241C>G (p.Leu1081Val) n.421-29835C>G | dbSNP |
12 | g.6023769G= | CA2013874939 | VWF | c.3241C= (p.Leu1081=) n.421-29835C= | |
12 | g.6023769G>T | CA383512317 | VWF | c.3241C>A (p.Leu1081Met) n.421-29835C>A | |
12 | g.6023770A= | CA2013874941 | VWF | c.3240T= (p.Tyr1080=) n.421-29836T= | |
12 | g.6023770A>C | CA383512319 | VWF | c.3240T>G (p.Tyr1080Ter) n.421-29836T>G | |
12 | g.6023770A>G | CA6402792 | VWF | c.3240T>C (p.Tyr1080=) n.421-29836T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6023770A>T | CA383512318 | VWF | c.3240T>A (p.Tyr1080Ter) n.421-29836T>A | gnomAD v4 |
12 | g.6023771T>A | CA383512320 | VWF | c.3239A>T (p.Tyr1080Phe) n.421-29837A>T | |
12 | g.6023771T>C | CA383512321 | VWF | c.3239A>G (p.Tyr1080Cys) n.421-29837A>G | |
12 | g.6023771T>G | CA383512322 | VWF | c.3239A>C (p.Tyr1080Ser) n.421-29837A>C | |
12 | g.6023772A>C | CA383512323 | VWF | c.3238T>G (p.Tyr1080Asp) n.421-29838T>G | |
12 | g.6023772A>G | CA383512324 | VWF | c.3238T>C (p.Tyr1080His) n.421-29838T>C | gnomAD v4 |
12 | g.6023772A>T | CA383512325 | VWF | c.3238T>A (p.Tyr1080Asn) n.421-29838T>A | |
12 | g.6023773del | CA2695216055 | VWF | c.3237del (p.Tyr1080IlefsTer?) n.421-29839del | |
12 | g.6023773T>A | CA478101707 | VWF | c.3237A>T (p.Pro1079=) n.421-29839A>T | |
12 | g.6023773T>C | CA6402793 | VWF | c.3237A>G (p.Pro1079=) n.421-29839A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6023773T>G | CA478101709 | VWF | c.3237A>C (p.Pro1079=) n.421-29839A>C | |
12 | g.6023773T= | CA2013874944 | VWF | c.3237A= (p.Pro1079=) n.421-29839A= | |
12 | g.6023774G>A | CA383512326 | VWF | c.3236C>T (p.Pro1079Leu) n.421-29840C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6023774G>C | CA383512327 | VWF | c.3236C>G (p.Pro1079Arg) n.421-29840C>G | |
12 | g.6023774G= | CA2013874946 | VWF | c.3236C= (p.Pro1079=) n.421-29840C= | |
12 | g.6023774G>T | CA383512328 | VWF | c.3236C>A (p.Pro1079Gln) n.421-29840C>A | |
12 | g.6023777_6023797dup | CA1139532066 | VWF | c.3223-7_3236dup n.421-29860_421-29840dup | |
12 | g.6023775G>A | CA383512329 | VWF | c.3235C>T (p.Pro1079Ser) n.421-29841C>T | |
12 | g.6023775G>C | CA383512330 | VWF | c.3235C>G (p.Pro1079Ala) n.421-29841C>G | |
12 | g.6023775G>T | CA383512331 | VWF | c.3235C>A (p.Pro1079Thr) n.421-29841C>A | |
12 | g.6023776C>A | CA383512333 | VWF | c.3234G>T (p.Glu1078Asp) n.421-29842G>T | |
12 | g.6023776C= | CA2013874948 | VWF | c.3234G= (p.Glu1078=) n.421-29842G= | |
12 | g.6023776C>G | CA383512332 | VWF | c.3234G>C (p.Glu1078Asp) n.421-29842G>C | |
12 | g.6023776C>T | CA478101714 | VWF | c.3234G>A (p.Glu1078=) n.421-29842G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6023777T>A | CA383512334 | VWF | c.3233A>T (p.Glu1078Val) n.421-29843A>T | |
12 | g.6023777T>C | CA383512336 | VWF | c.3233A>G (p.Glu1078Gly) n.421-29843A>G | |
12 | g.6023777T>G | CA383512335 | VWF | c.3233A>C (p.Glu1078Ala) n.421-29843A>C | |
12 | g.6023777T= | CA2013874949 | VWF | c.3233A= (p.Glu1078=) n.421-29843A= | |
12 | g.6023778C>A | CA383512337 | VWF | c.3232G>T (p.Glu1078Ter) n.421-29844G>T | |
12 | g.6023778C= | CA2013874951 | VWF | c.3232G= (p.Glu1078=) n.421-29844G= | |
12 | g.6023778C>G | CA232298117 | VWF | c.3232G>C (p.Glu1078Gln) n.421-29844G>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6023778C>T | CA228384 | VWF | c.3232G>A (p.Glu1078Lys) n.421-29844G>A | ClinVar dbSNP gnomAD v4 |
12 | g.6023778_6023779insCC | CA2741226869 | VWF | c.3232_3233insGG (p.Glu1078GlyfsTer?) n.421-29844_421-29843insGG | |
12 | g.6023778dup | CA6402794 | VWF | c.3232dup (p.Glu1078GlyfsTer15) n.421-29844dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6023779G>A | CA6402796 | VWF | c.3231C>T (p.Pro1077=) n.421-29845C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6023779G>C | CA6402795 | VWF | c.3231C>G (p.Pro1077=) n.421-29845C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6023779G= | CA2013874955 | VWF | c.3231C= (p.Pro1077=) n.421-29845C= | |
12 | g.6023779G>T | CA478101719 | VWF | c.3231C>A (p.Pro1077=) n.421-29845C>A | |
12 | g.6023782dup | CA2580086230 | VWF | c.3231dup (p.Glu1078ArgfsTer15) n.421-29845dup | ClinVar gnomAD v4 |
12 | g.6023782del | CA2739271830 | VWF | c.3231del (p.Glu1078SerfsTer?) n.421-29845del | ClinVar |