6 | g.49447654dup | CA3846834 | MMUT | c.1560+31dup (n.1560+31dup)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49447653_49447654dup | CA3846835 | MMUT | c.1560+30_1560+31dup (n.1560+30_1560+31dup)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49447652_49447654dup | CA3846836 | MMUT | c.1560+29_1560+31dup (n.1560+29_1560+31dup)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49447651_49447654dup | CA3846837 | MMUT | c.1560+28_1560+31dup (n.1560+28_1560+31dup)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49447650_49447654dup | CA1088809361 | MMUT | c.1560+27_1560+31dup (n.1560+27_1560+31dup)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49447649_49447654dup | CA2679046374 | MMUT | c.1560+26_1560+31dup (n.1560+26_1560+31dup)
| gnomAD v4 |
6 | g.49447648_49447654dup | CA1088809362 | MMUT | c.1560+25_1560+31dup (n.1560+25_1560+31dup)
| gnomAD v3 gnomAD v4 |
6 | g.49447647_49447654dup | CA2596869773 | MMUT | c.1560+24_1560+31dup (n.1560+24_1560+31dup)
| gnomAD v3 gnomAD v4 |
6 | g.49447646_49447654dup | CA1088809363 | MMUT | c.1560+23_1560+31dup (n.1560+23_1560+31dup)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49447654del | CA3846833 | MMUT | c.1560+31del (n.1560+31del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49447653_49447654del | CA3846838 | MMUT | c.1560+30_1560+31del (n.1560+30_1560+31del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49447652_49447654del | CA1088809365 | MMUT | c.1560+29_1560+31del (n.1560+29_1560+31del)
| gnomAD v3 gnomAD v4 |
6 | g.49447651_49447654del | CA650898798 | MMUT | c.1560+28_1560+31del (n.1560+28_1560+31del)
| gnomAD v4 COSMIC |
6 | g.49447650_49447654del | CA2679046370 | MMUT | c.1560+27_1560+31del (n.1560+27_1560+31del)
| gnomAD v4 |
6 | g.49447649_49447654del | CA2679046371 | MMUT | c.1560+26_1560+31del (n.1560+26_1560+31del)
| gnomAD v4 |
6 | g.49447643A>G | CA2679046377 | MMUT | c.1560+27T>C (n.1560+27T>C)
| gnomAD v4 |
6 | g.49447644A= | CA1627387590 | MMUT | c.1560+26T= (n.1560+26T=)
| |
6 | g.49447644A>C | CA3846840 | MMUT | c.1560+26T>G (n.1560+26T>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49447644A>G | CA2679046378 | MMUT | c.1560+26T>C (n.1560+26T>C)
| gnomAD v4 |
6 | g.49447645A= | CA1627387591 | MMUT | c.1560+25T= (n.1560+25T=)
| |
6 | g.49447645A>C | CA2679046379 | MMUT | c.1560+25T>G (n.1560+25T>G)
| gnomAD v4 |
6 | g.49447645A>G | CA3846841 | MMUT | c.1560+25T>C (n.1560+25T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49447646_49447647insCAA | CA2711790810 | MMUT | c.1560+25_1560+26insGTT (n.1560+25_1560+26insGTT)
| dbSNP |
6 | g.49447647A>G | CA2679046380 | MMUT | c.1560+23T>C (n.1560+23T>C)
| gnomAD v4 |
6 | g.49447648_49447649insG | CA2679046381 | MMUT | c.1560+21_1560+22insC (n.1560+21_1560+22insC)
| gnomAD v4 |
6 | g.49447650A>G | CA2711790829 | MMUT | c.1560+20T>C (n.1560+20T>C)
| ClinVar dbSNP |
6 | g.49447651A>G | CA2711790831 | MMUT | c.1560+19T>C (n.1560+19T>C)
| dbSNP |
6 | g.49447652A= | CA1627387592 | MMUT | c.1560+18T= (n.1560+18T=)
| |
6 | g.49447652A>G | CA2679046382 | MMUT | c.1560+18T>C (n.1560+18T>C)
| gnomAD v4 |
6 | g.49447653A= | CA1627387593 | MMUT | c.1560+17T= (n.1560+17T=)
| |
6 | g.49447653A>G | CA2679046383 | MMUT | c.1560+17T>C (n.1560+17T>C)
| gnomAD v4 |
6 | g.49447654_49447655insAACAA | CA3846842 | MMUT | c.1560+17_1560+18insGTTTT (n.1560+17_1560+18insGTTTT)
| dbSNP ExAC |
6 | g.49447654A>G | CA2679046384 | MMUT | c.1560+16T>C (n.1560+16T>C)
| gnomAD v4 |
6 | g.49447654A>T | CA2679046385 | MMUT | c.1560+16T>A (n.1560+16T>A)
| gnomAD v4 |
6 | g.49447654_49447655insTA | CA364397066 | MMUT | c.1560+16_1560+17insAT (n.1560+16_1560+17insAT)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49447654_49447655del | CA2679046386 | MMUT | c.1560+15_1560+16del (n.1560+15_1560+16del)
| gnomAD v4 |
6 | g.49447654_49447655delinsAG | CA1627387595 | MMUT | c.1560+15_1560+16delinsCT (n.1560+15_1560+16delinsCT)
| |
6 | g.49447654_49447656delinsAGC | CA1627387594 | MMUT | c.1560+14_1560+16delinsGCT (n.1560+14_1560+16delinsGCT)
| |
6 | g.49447655_49447657del | CA2770993512 | MMUT | c.1560+14_1560+16del (n.1560+14_1560+16del)
| |
6 | g.49447654_49447655insT | CA2679046387 | MMUT | c.1560+15_1560+16insA (n.1560+15_1560+16insA)
| gnomAD v4 |
6 | g.49447654_49447655insAT | CA2679046388 | MMUT | c.1560+15_1560+16insAT (n.1560+15_1560+16insAT)
| gnomAD v4 |
6 | g.49447655del | CA566929942 | MMUT | c.1560+15del (n.1560+15del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49447655G>A | CA3846844 | MMUT | c.1560+15C>T (n.1560+15C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49447655G>C | CA2679046389 | MMUT | c.1560+15C>G (n.1560+15C>G)
| gnomAD v4 |
6 | g.49447655G= | CA1627387596 | MMUT | c.1560+15C= (n.1560+15C=)
| |
6 | g.49447655G>T | CA3846845 | MMUT | c.1560+15C>A (n.1560+15C>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49447655dup | CA2679046390 | MMUT | c.1560+15dup (n.1560+15dup)
| ClinVar gnomAD v4 |
6 | g.49447655_49447656del | CA3846843 | MMUT | c.1560+14_1560+15del (n.1560+14_1560+15del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49447656del | CA2679046391 | MMUT | c.1560+14del (n.1560+14del)
| gnomAD v4 |
6 | g.49447656C>A | CA3846846 | MMUT | c.1560+14G>T (n.1560+14G>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49447656C= | CA1627387597 | MMUT | c.1560+14G= (n.1560+14G=)
| |
6 | g.49447656C>G | CA3846847 | MMUT | c.1560+14G>C (n.1560+14G>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49447656C>T | CA1088809383 | MMUT | c.1560+14G>A (n.1560+14G>A)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.49447657A>C | CA2679046393 | MMUT | c.1560+13T>G (n.1560+13T>G)
| gnomAD v4 |
6 | g.49447657A>G | CA2679046394 | MMUT | c.1560+13T>C (n.1560+13T>C)
| gnomAD v4 |
6 | g.49447658_49447659insAAA | CA3846848 | MMUT | c.1560+13_1560+14insTTT (n.1560+13_1560+14insTTT)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49447658_49447659insAAAA | CA566929944 | MMUT | c.1560+13_1560+14insTTTT (n.1560+13_1560+14insTTTT)
| gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49447658_49447659insAAAAA | CA566929945 | MMUT | c.1560+13_1560+14insTTTTT (n.1560+13_1560+14insTTTTT)
| gnomAD v2 |
6 | g.49447658dup | CA2679046392 | MMUT | c.1560+13dup (n.1560+13dup)
| gnomAD v4 |
6 | g.49447658A>C | CA2679046395 | MMUT | c.1560+12T>G (n.1560+12T>G)
| gnomAD v4 |
6 | g.49447658A>G | CA2679046397 | MMUT | c.1560+12T>C (n.1560+12T>C)
| gnomAD v4 |
6 | g.49447658A>T | CA2679046396 | MMUT | c.1560+12T>A (n.1560+12T>A)
| gnomAD v4 |
6 | g.49447658_49447664delinsAGCTATT | CA1627387598 | MMUT | c.1560+6_1560+12delinsAATAGCT (n.1560+6_1560+12delinsAATAGCT)
| |
6 | g.49447659G>A | CA3846849 | MMUT | c.1560+11C>T (n.1560+11C>T)
| ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
6 | g.49447659G>C | CA566929948 | MMUT | c.1560+11C>G (n.1560+11C>G)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49447659G= | CA1627387599 | MMUT | c.1560+11C= (n.1560+11C=)
| |
6 | g.49447659G>T | CA2578717806 | MMUT | c.1560+11C>A (n.1560+11C>A)
| gnomAD v4 |
6 | g.49447659_49447661del | CA2679046398 | MMUT | c.1560+9_1560+11del (n.1560+9_1560+11del)
| gnomAD v4 |
6 | g.49447659_49447664del | CA566929946 | MMUT | c.1560+6_1560+11del (n.1560+6_1560+11del)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49447660C>A | CA2679046399 | MMUT | c.1560+10G>T (n.1560+10G>T)
| gnomAD v4 |
6 | g.49447660C>G | CA2679046400 | MMUT | c.1560+10G>C (n.1560+10G>C)
| dbSNP gnomAD v4 |
6 | g.49447660C>T | CA2580074718 | MMUT | c.1560+10G>A (n.1560+10G>A)
| ClinVar gnomAD v4 |
6 | g.49447661T>A | CA1088809393 | MMUT | c.1560+9A>T (n.1560+9A>T)
| gnomAD v3 gnomAD v4 |
6 | g.49447661T>C | CA2679046401 | MMUT | c.1560+9A>G (n.1560+9A>G)
| gnomAD v4 |
6 | g.49447661T>G | CA2679046402 | MMUT | c.1560+9A>C (n.1560+9A>C)
| gnomAD v4 |
6 | g.49447662A>C | CA2679046404 | MMUT | c.1560+8T>G (n.1560+8T>G)
| gnomAD v4 |
6 | g.49447662A>G | CA2679046403 | MMUT | c.1560+8T>C (n.1560+8T>C)
| gnomAD v4 |
6 | g.49447662A>T | CA2578717807 | MMUT | c.1560+8T>A (n.1560+8T>A)
| gnomAD v4 |
6 | g.49447663T>A | CA2679046405 | MMUT | c.1560+7A>T (n.1560+7A>T)
| gnomAD v4 |
6 | g.49447664T>A | CA2679046406 | MMUT | c.1560+6A>T (n.1560+6A>T)
| gnomAD v4 |
6 | g.49447664T>C | CA2679046407 | MMUT | c.1560+6A>G (n.1560+6A>G)
| gnomAD v4 |
6 | g.49447664T>G | CA1627387601 | MMUT | c.1560+6A>C (n.1560+6A>C)
| dbSNP gnomAD v4 |
6 | g.49447664T= | CA1627387600 | MMUT | c.1560+6A= (n.1560+6A=)
| |
6 | g.49447665A= | CA1627387602 | MMUT | c.1560+5T= (n.1560+5T=)
| |
6 | g.49447665A>C | CA825473475 | MMUT | c.1560+5T>G (n.1560+5T>G)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49447665A>G | CA2679046408 | MMUT | c.1560+5T>C (n.1560+5T>C)
| gnomAD v4 |
6 | g.49447665A>T | CA2679046409 | MMUT | c.1560+5T>A (n.1560+5T>A)
| gnomAD v4 |
6 | g.49447667del | CA2532419590 | MMUT | c.1560+3del (n.1560+3del)
| |
6 | g.49447667T>A | CA2679046410 | MMUT | c.1560+3A>T (n.1560+3A>T)
| gnomAD v4 |
6 | g.49447667T>C | CA1627387604 | MMUT | c.1560+3A>G (n.1560+3A>G)
| dbSNP gnomAD v4 |
6 | g.49447667T= | CA1627387603 | MMUT | c.1560+3A= (n.1560+3A=)
| |
6 | g.49447668A= | CA1627387605 | MMUT | c.1560+2T= (n.1560+2T=)
| |
6 | g.49447668A>C | CA364397067 | MMUT | c.1560+2T>G (n.1560+2T>G)
| COSMIC |
6 | g.49447668A>G | CA364397068 | MMUT | c.1560+2T>C (n.1560+2T>C)
| ClinVar dbSNP gnomAD v4 |
6 | g.49447668A>T | CA364397069 | MMUT | c.1560+2T>A (n.1560+2T>A)
| |
6 | g.49447669C>A | CA312768 | MMUT | c.1560+1G>T (n.1560+1G>T)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.49447669C= | CA1627387606 | MMUT | c.1560+1G= (n.1560+1G=)
| |
6 | g.49447669C>G | CA364397070 | MMUT | c.1560+1G>C (n.1560+1G>C)
| |
6 | g.49447669C>T | CA364397071 | MMUT | c.1560+1G>A (n.1560+1G>A)
| ClinVar gnomAD v4 |
6 | g.49447670C>A | CA364397072 | MMUT | c.1560G>T (p.Lys520Asn)
| gnomAD v4 |
6 | g.49447670C>G | CA364397073 | MMUT | c.1560G>C (p.Lys520Asn)
| |
6 | g.49447670C>T | CA450398051 | MMUT | c.1560G>A (p.Lys520=)
| ClinVar dbSNP gnomAD v4 |
6 | g.49447671T>A | CA364397074 | MMUT | c.1559A>T (p.Lys520Met)
| |
6 | g.49447671T>C | CA364397075 | MMUT | c.1559A>G (p.Lys520Arg)
| dbSNP |
6 | g.49447671T>G | CA3846850 | MMUT | c.1559A>C (p.Lys520Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49447671T= | CA1627387607 | MMUT | c.1559A= (p.Lys520=)
| |
6 | g.49447672T>A | CA364397076 | MMUT | c.1558A>T (p.Lys520Ter)
| |
6 | g.49447672T>C | CA364397077 | MMUT | c.1558A>G (p.Lys520Glu)
| |
6 | g.49447672T>G | CA364397078 | MMUT | c.1558A>C (p.Lys520Gln)
| gnomAD v4 |
6 | g.49447673C>A | CA364397079 | MMUT | c.1557G>T (p.Lys519Asn)
| gnomAD v4 COSMIC |
6 | g.49447673C>G | CA364397080 | MMUT | c.1557G>C (p.Lys519Asn)
| gnomAD v4 |
6 | g.49447673C>T | CA450398064 | MMUT | c.1557G>A (p.Lys519=)
| gnomAD v4 |
6 | g.49447674T>A | CA364397081 | MMUT | c.1556A>T (p.Lys519Met)
| |
6 | g.49447674T>C | CA364397082 | MMUT | c.1556A>G (p.Lys519Arg)
| gnomAD v4 |
6 | g.49447674T>G | CA364397083 | MMUT | c.1556A>C (p.Lys519Thr)
| |
6 | g.49447675T>A | CA364397084 | MMUT | c.1555A>T (p.Lys519Ter)
| |
6 | g.49447675T>C | CA138795779 | MMUT | c.1555A>G (p.Lys519Glu)
| dbSNP |
6 | g.49447675T>G | CA364397085 | MMUT | c.1555A>C (p.Lys519Gln)
| gnomAD v4 |
6 | g.49447675T= | CA1627387608 | MMUT | c.1555A= (p.Lys519=)
| |
6 | g.49447676A= | CA1627387609 | MMUT | c.1554T= (p.Leu518=)
| |
6 | g.49447676A>C | CA450398072 | MMUT | c.1554T>G (p.Leu518=)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49447676A>G | CA450398074 | MMUT | c.1554T>C (p.Leu518=)
| |
6 | g.49447676A>T | CA450398075 | MMUT | c.1554T>A (p.Leu518=)
| gnomAD v4 |
6 | g.49447677A= | CA1627387610 | MMUT | c.1553T= (p.Leu518=)
| |
6 | g.49447677A>C | CA364397086 | MMUT | c.1553T>G (p.Leu518Arg)
| |
6 | g.49447677A>G | CA347864 | MMUT | c.1553T>C (p.Leu518Pro)
| ClinVar dbSNP |
6 | g.49447677A>T | CA364397087 | MMUT | c.1553T>A (p.Leu518His)
| |
6 | g.49447678G>A | CA364397088 | MMUT | c.1552C>T (p.Leu518Phe)
| |
6 | g.49447678G>C | CA3846851 | MMUT | c.1552C>G (p.Leu518Val)
| dbSNP ExAC |
6 | g.49447678G= | CA1627387611 | MMUT | c.1552C= (p.Leu518=)
| |
6 | g.49447678G>T | CA364397089 | MMUT | c.1552C>A (p.Leu518Ile)
| gnomAD v3 gnomAD v4 |
6 | g.49447679T>A | CA364397090 | MMUT | c.1551A>T (p.Lys517Asn)
| |
6 | g.49447679T>C | CA450398087 | MMUT | c.1551A>G (p.Lys517=)
| |
6 | g.49447679T>G | CA364397091 | MMUT | c.1551A>C (p.Lys517Asn)
| |
6 | g.49447683del | CA2679046411 | MMUT | c.1551del (p.Lys517AsnfsTer21)
| gnomAD v4 |
6 | g.49447680T>A | CA364397092 | MMUT | c.1550A>T (p.Lys517Ile)
| |
6 | g.49447680T>C | CA364397094 | MMUT | c.1550A>G (p.Lys517Arg)
| |
6 | g.49447680T>G | CA364397093 | MMUT | c.1550A>C (p.Lys517Thr)
| |
6 | g.49447681T>A | CA364397095 | MMUT | c.1549A>T (p.Lys517Ter)
| |
6 | g.49447681T>C | CA364397096 | MMUT | c.1549A>G (p.Lys517Glu)
| |
6 | g.49447681T>G | CA364397097 | MMUT | c.1549A>C (p.Lys517Gln)
| |
6 | g.49447682T>A | CA364397098 | MMUT | c.1548A>T (p.Glu516Asp)
| |
6 | g.49447682T>C | CA450398096 | MMUT | c.1548A>G (p.Glu516=)
| |
6 | g.49447682T>G | CA364397099 | MMUT | c.1548A>C (p.Glu516Asp)
| |
6 | g.49447683T>A | CA364397100 | MMUT | c.1547A>T (p.Glu516Val)
| |
6 | g.49447683T>C | CA364397101 | MMUT | c.1547A>G (p.Glu516Gly)
| |
6 | g.49447683T>G | CA364397102 | MMUT | c.1547A>C (p.Glu516Ala)
| |
6 | g.49447684C>A | CA364397103 | MMUT | c.1546G>T (p.Glu516Ter)
| gnomAD v4 |
6 | g.49447684C>G | CA364397104 | MMUT | c.1546G>C (p.Glu516Gln)
| |
6 | g.49447684C>T | CA364397105 | MMUT | c.1546G>A (p.Glu516Lys)
| gnomAD v4 |
6 | g.49447684_49447686del | CA2770993519 | MMUT | c.1544_1546del (p.Ile515_Glu516delinsLys)
| |
6 | g.49447685A>C | CA364397106 | MMUT | c.1545T>G (p.Ile515Met)
| |
6 | g.49447685A>G | CA450398105 | MMUT | c.1545T>C (p.Ile515=)
| |
6 | g.49447685A>T | CA450398106 | MMUT | c.1545T>A (p.Ile515=)
| |
6 | g.49447686A= | CA1627387612 | MMUT | c.1544T= (p.Ile515=)
| |
6 | g.49447686A>C | CA364397111 | MMUT | c.1544T>G (p.Ile515Ser)
| |
6 | g.49447686A>G | CA364397107 | MMUT | c.1544T>C (p.Ile515Thr)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49447686A>T | CA364397109 | MMUT | c.1544T>A (p.Ile515Asn)
| |
6 | g.49447687T>A | CA364397112 | MMUT | c.1543A>T (p.Ile515Phe)
| |
6 | g.49447687T>C | CA364397113 | MMUT | c.1543A>G (p.Ile515Val)
| gnomAD v4 |
6 | g.49447687T>G | CA364397114 | MMUT | c.1543A>C (p.Ile515Leu)
| |
6 | g.49447688C>A | CA364397115 | MMUT | c.1542G>T (p.Gln514His)
| gnomAD v4 |
6 | g.49447688C>G | CA364397116 | MMUT | c.1542G>C (p.Gln514His)
| |
6 | g.49447688C>T | CA450398115 | MMUT | c.1542G>A (p.Gln514=)
| gnomAD v4 |
6 | g.49447689del | CA913110640 | MMUT | c.1541del (p.Gln514ArgfsTer24)
| |
6 | g.49447689T>A | CA364397117 | MMUT | c.1541A>T (p.Gln514Leu)
| |
6 | g.49447689T>C | CA364397118 | MMUT | c.1541A>G (p.Gln514Arg)
| |
6 | g.49447689T>G | CA364397119 | MMUT | c.1541A>C (p.Gln514Pro)
| |
6 | g.49447690G>A | CA364397120 | MMUT | c.1540C>T (p.Gln514Ter)
| COSMIC |
6 | g.49447690G>C | CA364397121 | MMUT | c.1540C>G (p.Gln514Glu)
| |
6 | g.49447690G>T | CA364397122 | MMUT | c.1540C>A (p.Gln514Lys)
| ClinVar dbSNP gnomAD v4 |
6 | g.49447691C>A | CA364397124 | MMUT | c.1539G>T (p.Arg513Ser)
| gnomAD v4 |
6 | g.49447691C= | CA1627387613 | MMUT | c.1539G= (p.Arg513=)
| |
6 | g.49447691C>G | CA364397123 | MMUT | c.1539G>C (p.Arg513Ser)
| |
6 | g.49447691C>T | CA3846852 | MMUT | c.1539G>A (p.Arg513=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49447692C>A | CA364397127 | MMUT | c.1538G>T (p.Arg513Met)
| |
6 | g.49447692C>G | CA364397125 | MMUT | c.1538G>C (p.Arg513Thr)
| |
6 | g.49447692C>T | CA364397126 | MMUT | c.1538G>A (p.Arg513Lys)
| |
6 | g.49447692_49447693insA | CA2695206517 | MMUT | c.1537_1538insT (p.Arg513MetfsTer4)
| |
6 | g.49447693T>A | CA364397128 | MMUT | c.1537A>T (p.Arg513Trp)
| |
6 | g.49447693T>C | CA364397129 | MMUT | c.1537A>G (p.Arg513Gly)
| gnomAD v4 |
6 | g.49447693T>G | CA450398131 | MMUT | c.1537A>C (p.Arg513=)
| |
6 | g.49447694G>A | CA138795780 | MMUT | c.1536C>T (p.Asn512=)
| dbSNP |
6 | g.49447694G>C | CA364397130 | MMUT | c.1536C>G (p.Asn512Lys)
| |
6 | g.49447694G= | CA1627387614 | MMUT | c.1536C= (p.Asn512=)
| |
6 | g.49447694G>T | CA3846853 | MMUT | c.1536C>A (p.Asn512Lys)
| dbSNP ExAC gnomAD v4 |
6 | g.49447695T>A | CA364397131 | MMUT | c.1535A>T (p.Asn512Ile)
| |
6 | g.49447695T>C | CA364397132 | MMUT | c.1535A>G (p.Asn512Ser)
| |
6 | g.49447695T>G | CA364397133 | MMUT | c.1535A>C (p.Asn512Thr)
| gnomAD v4 |
6 | g.49447696T>A | CA364397134 | MMUT | c.1534A>T (p.Asn512Tyr)
| |
6 | g.49447696T>C | CA364397135 | MMUT | c.1534A>G (p.Asn512Asp)
| |
6 | g.49447696T>G | CA364397136 | MMUT | c.1534A>C (p.Asn512His)
| |
6 | g.49447697T>A | CA450398143 | MMUT | c.1533A>T (p.Arg511=)
| |
6 | g.49447697T>C | CA450398145 | MMUT | c.1533A>G (p.Arg511=)
| |
6 | g.49447697T>G | CA450398147 | MMUT | c.1533A>C (p.Arg511=)
| |
6 | g.49447698C>A | CA364397137 | MMUT | c.1532G>T (p.Arg511Leu)
| gnomAD v4 |
6 | g.49447698C= | CA1627387615 | MMUT | c.1532G= (p.Arg511=)
| |
6 | g.49447698C>G | CA364397138 | MMUT | c.1532G>C (p.Arg511Pro)
| |
6 | g.49447698C>T | CA3846854 | MMUT | c.1532G>A (p.Arg511Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49447699G>A | CA3846855 | MMUT | c.1531C>T (p.Arg511Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.49447699G>C | CA364397139 | MMUT | c.1531C>G (p.Arg511Gly)
| |
6 | g.49447699G= | CA1627387616 | MMUT | c.1531C= (p.Arg511=)
| |
6 | g.49447699G>T | CA450398154 | MMUT | c.1531C>A (p.Arg511=)
| ClinVar dbSNP gnomAD v4 |
6 | g.49447699_49447700insAA | CA2695206518 | MMUT | c.1530_1531insTT (p.Arg511PhefsTer28)
| |
6 | g.49447700C>A | CA450398157 | MMUT | c.1530G>T (p.Val510=)
| |
6 | g.49447700C>G | CA450398158 | MMUT | c.1530G>C (p.Val510=)
| |
6 | g.49447700C>T | CA450398160 | MMUT | c.1530G>A (p.Val510=)
| ClinVar dbSNP |
6 | g.49447701A>C | CA364397140 | MMUT | c.1529T>G (p.Val510Gly)
| |
6 | g.49447701A>G | CA364397141 | MMUT | c.1529T>C (p.Val510Ala)
| |
6 | g.49447701A>T | CA364397142 | MMUT | c.1529T>A (p.Val510Glu)
| COSMIC |
6 | g.49447702C>A | CA364397145 | MMUT | c.1528G>T (p.Val510Leu)
| |
6 | g.49447702C= | CA1627387617 | MMUT | c.1528G= (p.Val510=)
| |
6 | g.49447702C>G | CA364397143 | MMUT | c.1528G>C (p.Val510Leu)
| gnomAD v4 |
6 | g.49447702C>T | CA364397144 | MMUT | c.1528G>A (p.Val510Met)
| dbSNP gnomAD v4 |
6 | g.49447703T>A | CA450398169 | MMUT | c.1527A>T (p.Ser509=)
| |
6 | g.49447703T>C | CA450398171 | MMUT | c.1527A>G (p.Ser509=)
| ClinVar dbSNP COSMIC |
6 | g.49447703T>G | CA450398173 | MMUT | c.1527A>C (p.Ser509=)
| |
6 | g.49447703_49447706dup | CA1627387618 | MMUT | c.1524_1527dup (p.Val510PhefsTer8)
| dbSNP |
6 | g.49447704G>A | CA138795781 | MMUT | c.1526C>T (p.Ser509Leu)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49447704G>C | CA364397146 | MMUT | c.1526C>G (p.Ser509Ter)
| |
6 | g.49447704G= | CA1627387619 | MMUT | c.1526C= (p.Ser509=)
| |
6 | g.49447704G>T | CA364397147 | MMUT | c.1526C>A (p.Ser509Ter)
| gnomAD v4 |
6 | g.49447704_49447705del | CA2580074719 | MMUT | c.1525_1526del (p.Val510AlafsTer6)
| ClinVar |
6 | g.49447705A>C | CA364397148 | MMUT | c.1525T>G (p.Ser509Ala)
| |
6 | g.49447705A>G | CA364397149 | MMUT | c.1525T>C (p.Ser509Pro)
| |
6 | g.49447705A>T | CA364397150 | MMUT | c.1525T>A (p.Ser509Thr)
| |
6 | g.49447706A>C | CA450398181 | MMUT | c.1524T>G (p.Thr508=)
| |
6 | g.49447706A>G | CA450398182 | MMUT | c.1524T>C (p.Thr508=)
| |
6 | g.49447706A>T | CA450398183 | MMUT | c.1524T>A (p.Thr508=)
| |
6 | g.49447707G>A | CA364397152 | MMUT | c.1523C>T (p.Thr508Ile)
| |
6 | g.49447707G>C | CA364397153 | MMUT | c.1523C>G (p.Thr508Ser)
| |
6 | g.49447707G>T | CA364397151 | MMUT | c.1523C>A (p.Thr508Asn)
| gnomAD v4 |
6 | g.49447708T>A | CA364397154 | MMUT | c.1522A>T (p.Thr508Ser)
| |
6 | g.49447708T>C | CA364397156 | MMUT | c.1522A>G (p.Thr508Ala)
| |
6 | g.49447708T>G | CA364397155 | MMUT | c.1522A>C (p.Thr508Pro)
| |
6 | g.49447709A>C | CA364397157 | MMUT | c.1521T>G (p.Asn507Lys)
| |
6 | g.49447709A>G | CA450398192 | MMUT | c.1521T>C (p.Asn507=)
| |
6 | g.49447709A>T | CA364397158 | MMUT | c.1521T>A (p.Asn507Lys)
| |
6 | g.49447710T>A | CA364397159 | MMUT | c.1520A>T (p.Asn507Ile)
| |
6 | g.49447710T>C | CA364397160 | MMUT | c.1520A>G (p.Asn507Ser)
| dbSNP |
6 | g.49447710T>G | CA364397161 | MMUT | c.1520A>C (p.Asn507Thr)
| COSMIC |
6 | g.49447710T= | CA1627387620 | MMUT | c.1520A= (p.Asn507=)
| |
6 | g.49447711T>A | CA364397162 | MMUT | c.1519A>T (p.Asn507Tyr)
| |
6 | g.49447711T>C | CA3846856 | MMUT | c.1519A>G (p.Asn507Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49447711T>G | CA364397163 | MMUT | c.1519A>C (p.Asn507His)
| |
6 | g.49447711T= | CA1627387621 | MMUT | c.1519A= (p.Asn507=)
| |
6 | g.49447712A>C | CA364397164 | MMUT | c.1518T>G (p.Asp506Glu)
| |
6 | g.49447712A>G | CA450398193 | MMUT | c.1518T>C (p.Asp506=)
| |
6 | g.49447712A>T | CA364397165 | MMUT | c.1518T>A (p.Asp506Glu)
| |
6 | g.49447713T>A | CA364397166 | MMUT | c.1517A>T (p.Asp506Val)
| |
6 | g.49447713T>C | CA364397167 | MMUT | c.1517A>G (p.Asp506Gly)
| |
6 | g.49447713T>G | CA364397168 | MMUT | c.1517A>C (p.Asp506Ala)
| |
6 | g.49447714C>A | CA364397169 | MMUT | c.1516G>T (p.Asp506Tyr)
| |
6 | g.49447714C>G | CA364397171 | MMUT | c.1516G>C (p.Asp506His)
| |
6 | g.49447714C>T | CA364397170 | MMUT | c.1516G>A (p.Asp506Asn)
| |
6 | g.49447715A= | CA1627387622 | MMUT | c.1515T= (p.Ile505=)
| |
6 | g.49447715A>C | CA364397172 | MMUT | c.1515T>G (p.Ile505Met)
| |
6 | g.49447715A>G | CA3846857 | MMUT | c.1515T>C (p.Ile505=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49447715A>T | CA450398194 | MMUT | c.1515T>A (p.Ile505=)
| |
6 | g.49447716A>C | CA364397173 | MMUT | c.1514T>G (p.Ile505Ser)
| |
6 | g.49447716A>G | CA364397174 | MMUT | c.1514T>C (p.Ile505Thr)
| ClinVar |
6 | g.49447716A>T | CA364397175 | MMUT | c.1514T>A (p.Ile505Asn)
| |
6 | g.49447717T>A | CA364397176 | MMUT | c.1513A>T (p.Ile505Phe)
| |
6 | g.49447717T>C | CA364397177 | MMUT | c.1513A>G (p.Ile505Val)
| |
6 | g.49447717T>G | CA364397178 | MMUT | c.1513A>C (p.Ile505Leu)
| |
6 | g.49447718del | CA2573140879 | MMUT | c.1513del (p.Ile505LeufsTer?)
| ClinVar dbSNP |
6 | g.49447718T>A | CA450398195 | MMUT | c.1512A>T (p.Ala504=)
| |
6 | g.49447718T>C | CA3846858 | MMUT | c.1512A>G (p.Ala504=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49447718T>G | CA450398196 | MMUT | c.1512A>C (p.Ala504=)
| |
6 | g.49447718T= | CA1627387623 | MMUT | c.1512A= (p.Ala504=)
| |
6 | g.49447719G>A | CA138795782 | MMUT | c.1511C>T (p.Ala504Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49447719G>C | CA3846859 | MMUT | c.1511C>G (p.Ala504Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49447719G= | CA1627387624 | MMUT | c.1511C= (p.Ala504=)
| |
6 | g.49447719G>T | CA364397179 | MMUT | c.1511C>A (p.Ala504Glu)
| |
6 | g.49447720C>A | CA364397180 | MMUT | c.1510G>T (p.Ala504Ser)
| |
6 | g.49447720C= | CA1627387625 | MMUT | c.1510G= (p.Ala504=)
| |
6 | g.49447720C>G | CA364397181 | MMUT | c.1510G>C (p.Ala504Pro)
| |
6 | g.49447720C>T | CA138795783 | MMUT | c.1510G>A (p.Ala504Thr)
| dbSNP |
6 | g.49447721C>A | CA450398197 | MMUT | c.1509G>T (p.Leu503=)
| |
6 | g.49447721C= | CA1627387626 | MMUT | c.1509G= (p.Leu503=)
| |
6 | g.49447721C>G | CA450398198 | MMUT | c.1509G>C (p.Leu503=)
| |
6 | g.49447721C>T | CA450398199 | MMUT | c.1509G>A (p.Leu503=)
| dbSNP |
6 | g.49447722A>C | CA364397182 | MMUT | c.1508T>G (p.Leu503Arg)
| |
6 | g.49447722A>G | CA364397183 | MMUT | c.1508T>C (p.Leu503Pro)
| |
6 | g.49447722A>T | CA364397184 | MMUT | c.1508T>A (p.Leu503Gln)
| |
6 | g.49447723G>A | CA450398200 | MMUT | c.1507C>T (p.Leu503=)
| |
6 | g.49447723G>C | CA364397185 | MMUT | c.1507C>G (p.Leu503Val)
| |
6 | g.49447723G>T | CA364397186 | MMUT | c.1507C>A (p.Leu503Met)
| |
6 | g.49447724A>C | CA450398201 | MMUT | c.1506T>G (p.Val502=)
| |
6 | g.49447724A>G | CA450398202 | MMUT | c.1506T>C (p.Val502=)
| |
6 | g.49447724A>T | CA450398203 | MMUT | c.1506T>A (p.Val502=)
| |
6 | g.49447725A>C | CA364397187 | MMUT | c.1505T>G (p.Val502Gly)
| |
6 | g.49447725A>G | CA364397188 | MMUT | c.1505T>C (p.Val502Ala)
| |
6 | g.49447725A>T | CA364397189 | MMUT | c.1505T>A (p.Val502Asp)
| |
6 | g.49447726C>A | CA364397190 | MMUT | c.1504G>T (p.Val502Phe)
| |
6 | g.49447726C= | CA1627387627 | MMUT | c.1504G= (p.Val502=)
| |
6 | g.49447726C>G | CA364397191 | MMUT | c.1504G>C (p.Val502Leu)
| |
6 | g.49447726C>T | CA3846860 | MMUT | c.1504G>A (p.Val502Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49447727T>A | CA364397192 | MMUT | c.1503A>T (p.Glu501Asp)
| |
6 | g.49447727T>C | CA450398204 | MMUT | c.1503A>G (p.Glu501=)
| |
6 | g.49447727T>G | CA364397193 | MMUT | c.1503A>C (p.Glu501Asp)
| gnomAD v4 |
6 | g.49447728T>A | CA364397194 | MMUT | c.1502A>T (p.Glu501Val)
| |
6 | g.49447728T>C | CA364397195 | MMUT | c.1502A>G (p.Glu501Gly)
| |
6 | g.49447728T>G | CA364397196 | MMUT | c.1502A>C (p.Glu501Ala)
| |
6 | g.49447729C>A | CA364397197 | MMUT | c.1501G>T (p.Glu501Ter)
| |
6 | g.49447729C= | CA1627387628 | MMUT | c.1501G= (p.Glu501=)
| |
6 | g.49447729C>G | CA3846861 | MMUT | c.1501G>C (p.Glu501Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49447729C>T | CA364397198 | MMUT | c.1501G>A (p.Glu501Lys)
| |
6 | g.49447729_49447748del | CA2695206519 | MMUT | c.1482_1501del (p.Glu495SerfsTer5)
| |
6 | g.49447730T>A | CA450398205 | MMUT | c.1500A>T (p.Val500=)
| gnomAD v4 |
6 | g.49447730T>C | CA450398206 | MMUT | c.1500A>G (p.Val500=)
| |
6 | g.49447730T>G | CA450398207 | MMUT | c.1500A>C (p.Val500=)
| |
6 | g.49447731A= | CA1627387629 | MMUT | c.1499T= (p.Val500=)
| |
6 | g.49447731A>C | CA364397199 | MMUT | c.1499T>G (p.Val500Gly)
| |
6 | g.49447731A>G | CA138795784 | MMUT | c.1499T>C (p.Val500Ala)
| ClinVar dbSNP gnomAD v4 |
6 | g.49447731A>T | CA364397200 | MMUT | c.1499T>A (p.Val500Glu)
| |
6 | g.49447732C>A | CA364397201 | MMUT | c.1498G>T (p.Val500Leu)
| |
6 | g.49447732C>G | CA364397202 | MMUT | c.1498G>C (p.Val500Leu)
| |
6 | g.49447732C>T | CA364397203 | MMUT | c.1498G>A (p.Val500Ile)
| |
6 | g.49447733A= | CA1627387630 | MMUT | c.1497T= (p.Ala499=)
| |
6 | g.49447733A>C | CA450398208 | MMUT | c.1497T>G (p.Ala499=)
| |
6 | g.49447733A>G | CA450398210 | MMUT | c.1497T>C (p.Ala499=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49447733A>T | CA450398209 | MMUT | c.1497T>A (p.Ala499=)
| |
6 | g.49447734G>A | CA364397205 | MMUT | c.1496C>T (p.Ala499Val)
| gnomAD v4 |
6 | g.49447734G>C | CA364397206 | MMUT | c.1496C>G (p.Ala499Gly)
| |
6 | g.49447734G>T | CA364397204 | MMUT | c.1496C>A (p.Ala499Asp)
| |
6 | g.49447735C>A | CA364397207 | MMUT | c.1495G>T (p.Ala499Ser)
| dbSNP gnomAD v4 |
6 | g.49447735C= | CA1627387631 | MMUT | c.1495G= (p.Ala499=)
| |
6 | g.49447735C>G | CA364397208 | MMUT | c.1495G>C (p.Ala499Pro)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49447735C>T | CA249739 | MMUT | c.1495G>A (p.Ala499Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49447735_49447736insTT | CA1088809430 | MMUT | c.1494_1495insAA (p.Ala499LysfsTer3)
| gnomAD v3 gnomAD v4 |
6 | g.49447736G>A | CA3846862 | MMUT | c.1494C>T (p.Asp498=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49447736G>C | CA364397210 | MMUT | c.1494C>G (p.Asp498Glu)
| |
6 | g.49447736G= | CA1627387632 | MMUT | c.1494C= (p.Asp498=)
| |
6 | g.49447736G>T | CA364397209 | MMUT | c.1494C>A (p.Asp498Glu)
| |
6 | g.49447737T>A | CA364397211 | MMUT | c.1493A>T (p.Asp498Val)
| |
6 | g.49447737T>C | CA3846863 | MMUT | c.1493A>G (p.Asp498Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49447737T>G | CA364397212 | MMUT | c.1493A>C (p.Asp498Ala)
| |
6 | g.49447737T= | CA1627387633 | MMUT | c.1493A= (p.Asp498=)
| |
6 | g.49447738C>A | CA364397213 | MMUT | c.1492G>T (p.Asp498Tyr)
| |
6 | g.49447738C>G | CA364397215 | MMUT | c.1492G>C (p.Asp498His)
| |
6 | g.49447738C>T | CA364397214 | MMUT | c.1492G>A (p.Asp498Asn)
| |
6 | g.49447739T>A | CA364397216 | MMUT | c.1491A>T (p.Glu497Asp)
| |
6 | g.49447739T>C | CA450398211 | MMUT | c.1491A>G (p.Glu497=)
| ClinVar dbSNP gnomAD v4 |
6 | g.49447739T>G | CA364397217 | MMUT | c.1491A>C (p.Glu497Asp)
| gnomAD v4 |
6 | g.49447739T= | CA1627387634 | MMUT | c.1491A= (p.Glu497=)
| |
6 | g.49447740T>A | CA364397218 | MMUT | c.1490A>T (p.Glu497Val)
| |
6 | g.49447740T>C | CA364397220 | MMUT | c.1490A>G (p.Glu497Gly)
| |
6 | g.49447740T>G | CA364397219 | MMUT | c.1490A>C (p.Glu497Ala)
| |
6 | g.49447741C>A | CA10575864 | MMUT | c.1489G>T (p.Glu497Ter)
| ClinVar dbSNP gnomAD v4 |
6 | g.49447741C= | CA1627387635 | MMUT | c.1489G= (p.Glu497=)
| |
6 | g.49447741C>G | CA364397221 | MMUT | c.1489G>C (p.Glu497Gln)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49447741C>T | CA364397222 | MMUT | c.1489G>A (p.Glu497Lys)
| |
6 | g.49447742T>A | CA364397223 | MMUT | c.1488A>T (p.Lys496Asn)
| |
6 | g.49447742T>C | CA450398212 | MMUT | c.1488A>G (p.Lys496=)
| gnomAD v4 |
6 | g.49447742T>G | CA364397224 | MMUT | c.1488A>C (p.Lys496Asn)
| |
6 | g.49447746dup | CA2770993524 | MMUT | c.1488dup (p.Glu497ArgfsTer10)
| |
6 | g.49447746del | CA2679046412 | MMUT | c.1488del (p.Glu497LysfsTer4)
| gnomAD v4 |
6 | g.49447743T>A | CA364397225 | MMUT | c.1487A>T (p.Lys496Ile)
| |
6 | g.49447743T>C | CA364397226 | MMUT | c.1487A>G (p.Lys496Arg)
| |
6 | g.49447743T>G | CA364397227 | MMUT | c.1487A>C (p.Lys496Thr)
| |