6 | g.49451430A>C | CA2679046677 | MMUT | c.1332+36T>G (n.1332+36T>G)
| gnomAD v4 |
6 | g.49451430_49451431delinsAT | CA1627389259 | MMUT | c.1332+35_1332+36delinsAT (n.1332+35_1332+36delinsAT)
| |
6 | g.49451431T>A | CA3846913 | MMUT | c.1332+35A>T (n.1332+35A>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49451431T>G | CA566930451 | MMUT | c.1332+35A>C (n.1332+35A>C)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49451431T= | CA1627389260 | MMUT | c.1332+35A= (n.1332+35A=)
| |
6 | g.49451432del | CA566930450 | MMUT | c.1332+35del (n.1332+35del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49451433_49451434dup | CA138796301 | MMUT | c.1332+33_1332+34dup (n.1332+33_1332+34dup)
| dbSNP |
6 | g.49451434T>C | CA3846914 | MMUT | c.1332+32A>G (n.1332+32A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49451434T>G | CA2578717899 | MMUT | c.1332+32A>C (n.1332+32A>C)
| |
6 | g.49451434T= | CA1627389261 | MMUT | c.1332+32A= (n.1332+32A=)
| |
6 | g.49451435G= | CA1627389262 | MMUT | c.1332+31C= (n.1332+31C=)
| |
6 | g.49451439dup | CA566930454 | MMUT | c.1332+30dup (n.1332+30dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49451437A= | CA1627389263 | MMUT | c.1332+29T= (n.1332+29T=)
| |
6 | g.49451437A>T | CA566930455 | MMUT | c.1332+29T>A (n.1332+29T>A)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49451438A= | CA1627389264 | MMUT | c.1332+28T= (n.1332+28T=)
| |
6 | g.49451438A>G | CA3846915 | MMUT | c.1332+28T>C (n.1332+28T>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49451440_49451442del | CA2679046678 | MMUT | c.1332+26_1332+28del (n.1332+26_1332+28del)
| gnomAD v4 |
6 | g.49451440C>T | CA2679046679 | MMUT | c.1332+26G>A (n.1332+26G>A)
| gnomAD v4 |
6 | g.49451444G>C | CA3846916 | MMUT | c.1332+22C>G (n.1332+22C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49451444G= | CA1627389265 | MMUT | c.1332+22C= (n.1332+22C=)
| |
6 | g.49451446T>C | CA566930457 | MMUT | c.1332+20A>G (n.1332+20A>G)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49451446T= | CA1627389266 | MMUT | c.1332+20A= (n.1332+20A=)
| |
6 | g.49451447G>A | CA3846917 | MMUT | c.1332+19C>T (n.1332+19C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49451447G= | CA1627389267 | MMUT | c.1332+19C= (n.1332+19C=)
| |
6 | g.49451447_49451458dup | CA2679046680 | MMUT | c.1332+8_1332+19dup (n.1332+8_1332+19dup)
| gnomAD v4 |
6 | g.49451448C>A | CA566930458 | MMUT | c.1332+18G>T (n.1332+18G>T)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49451448C= | CA1627389268 | MMUT | c.1332+18G= (n.1332+18G=)
| |
6 | g.49451448C>T | CA2679046681 | MMUT | c.1332+18G>A (n.1332+18G>A)
| gnomAD v4 |
6 | g.49451449A>C | CA2578717900 | MMUT | c.1332+17T>G (n.1332+17T>G)
| |
6 | g.49451449A>G | CA2679046682 | MMUT | c.1332+17T>C (n.1332+17T>C)
| gnomAD v4 |
6 | g.49451450A>G | CA2512331079 | MMUT | c.1332+16T>C (n.1332+16T>C)
| gnomAD v4 |
6 | g.49451452G>A | CA3846918 | MMUT | c.1332+14C>T (n.1332+14C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49451452G>C | CA2679046683 | MMUT | c.1332+14C>G (n.1332+14C>G)
| gnomAD v4 |
6 | g.49451452G= | CA1627389269 | MMUT | c.1332+14C= (n.1332+14C=)
| |
6 | g.49451453T>G | CA566930460 | MMUT | c.1332+13A>C (n.1332+13A>C)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49451453T= | CA1627389270 | MMUT | c.1332+13A= (n.1332+13A=)
| |
6 | g.49451454G>C | CA2770993667 | MMUT | c.1332+12C>G (n.1332+12C>G)
| |
6 | g.49451454G>T | CA2679046684 | MMUT | c.1332+12C>A (n.1332+12C>A)
| gnomAD v4 |
6 | g.49451455G>A | CA2578717901 | MMUT | c.1332+11C>T (n.1332+11C>T)
| |
6 | g.49451455G= | CA1627389271 | MMUT | c.1332+11C= (n.1332+11C=)
| |
6 | g.49451455G>T | CA825476924 | MMUT | c.1332+11C>A (n.1332+11C>A)
| dbSNP |
6 | g.49451461C= | CA1627389272 | MMUT | c.1332+5G= (n.1332+5G=)
| |
6 | g.49451461C>T | CA1627389273 | MMUT | c.1332+5G>A (n.1332+5G>A)
| dbSNP |
6 | g.49451462T>C | CA2679046685 | MMUT | c.1332+4A>G (n.1332+4A>G)
| gnomAD v4 |
6 | g.49451463T>A | CA2679046686 | MMUT | c.1332+3A>T (n.1332+3A>T)
| gnomAD v4 |
6 | g.49451463T>G | CA3846919 | MMUT | c.1332+3A>C (n.1332+3A>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49451463T= | CA1627389274 | MMUT | c.1332+3A= (n.1332+3A=)
| |
6 | g.49451464A>C | CA364398579 | MMUT | c.1332+2T>G (n.1332+2T>G)
| gnomAD v4 |
6 | g.49451464A>G | CA364398583 | MMUT | c.1332+2T>C (n.1332+2T>C)
| |
6 | g.49451464A>T | CA364398581 | MMUT | c.1332+2T>A (n.1332+2T>A)
| |
6 | g.49451464_49451465del | CA913110641 | MMUT | c.1332+1_1332+2del (n.1332+1_1332+2del)
| |
6 | g.49451464_49451465delinsAC | CA1627389275 | MMUT | c.1332+1_1332+2delinsGT (n.1332+1_1332+2delinsGT)
| |
6 | g.49451465C>A | CA364398585 | MMUT | c.1332+1G>T (n.1332+1G>T)
| |
6 | g.49451465C>G | CA364398587 | MMUT | c.1332+1G>C (n.1332+1G>C)
| ClinVar |
6 | g.49451465C>T | CA364398588 | MMUT | c.1332+1G>A (n.1332+1G>A)
| |
6 | g.49451466del | CA3846920 | MMUT | c.1332+1del
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49451466C>A | CA364398590 | MMUT | c.1332G>T (p.Lys444Asn)
| |
6 | g.49451466C>G | CA364398591 | MMUT | c.1332G>C (p.Lys444Asn)
| |
6 | g.49451466C>T | CA450398491 | MMUT | c.1332G>A (p.Lys444=)
| gnomAD v4 |
6 | g.49451467T>A | CA364398593 | MMUT | c.1331A>T (p.Lys444Met)
| |
6 | g.49451467T>C | CA364398594 | MMUT | c.1331A>G (p.Lys444Arg)
| |
6 | g.49451467T>G | CA364398596 | MMUT | c.1331A>C (p.Lys444Thr)
| |
6 | g.49451468T>A | CA364398597 | MMUT | c.1330A>T (p.Lys444Ter)
| ClinVar dbSNP |
6 | g.49451468T>C | CA364398599 | MMUT | c.1330A>G (p.Lys444Glu)
| ClinVar |
6 | g.49451468T>G | CA364398601 | MMUT | c.1330A>C (p.Lys444Gln)
| gnomAD v4 |
6 | g.49451468T= | CA1627389276 | MMUT | c.1330A= (p.Lys444=)
| |
6 | g.49451469T>A | CA364398605 | MMUT | c.1329A>T (p.Leu443Phe)
| |
6 | g.49451469T>C | CA450606032 | MMUT | c.1329A>G (p.Leu443=)
| |
6 | g.49451469T>G | CA364398603 | MMUT | c.1329A>C (p.Leu443Phe)
| |
6 | g.49451469T= | CA1627389277 | MMUT | c.1329A= (p.Leu443=)
| |
6 | g.49451470A>C | CA364398608 | MMUT | c.1328T>G (p.Leu443Ter)
| |
6 | g.49451470A>G | CA364398611 | MMUT | c.1328T>C (p.Leu443Ser)
| |
6 | g.49451470A>T | CA364398614 | MMUT | c.1328T>A (p.Leu443Ter)
| |
6 | g.49451472dup | CA3846921 | MMUT | c.1328dup (p.Leu443PhefsTer5)
| ClinVar dbSNP ExAC gnomAD v2 |
6 | g.49451472del | CA2572402316 | MMUT | c.1328del (p.Leu443Ter)
| |
6 | g.49451471A>C | CA364398615 | MMUT | c.1327T>G (p.Leu443Val)
| |
6 | g.49451471A>G | CA450606040 | MMUT | c.1327T>C (p.Leu443=)
| |
6 | g.49451471A>T | CA364398617 | MMUT | c.1327T>A (p.Leu443Ile)
| |
6 | g.49451472A>C | CA450606044 | MMUT | c.1326T>G (p.Ala442=)
| |
6 | g.49451472A>G | CA450606046 | MMUT | c.1326T>C (p.Ala442=)
| |
6 | g.49451472A>T | CA450606047 | MMUT | c.1326T>A (p.Ala442=)
| ClinVar dbSNP gnomAD v4 |
6 | g.49451473G>A | CA364398620 | MMUT | c.1325C>T (p.Ala442Val)
| dbSNP |
6 | g.49451473G>C | CA364398621 | MMUT | c.1325C>G (p.Ala442Gly)
| |
6 | g.49451473G= | CA1627389278 | MMUT | c.1325C= (p.Ala442=)
| |
6 | g.49451473G>T | CA364398624 | MMUT | c.1325C>A (p.Ala442Asp)
| |
6 | g.49451474C>A | CA364398628 | MMUT | c.1324G>T (p.Ala442Ser)
| |
6 | g.49451474C= | CA1627389279 | MMUT | c.1324G= (p.Ala442=)
| |
6 | g.49451474C>G | CA312766 | MMUT | c.1324G>C (p.Ala442Pro)
| ClinVar dbSNP |
6 | g.49451474C>T | CA364398629 | MMUT | c.1324G>A (p.Ala442Thr)
| |
6 | g.49451474_49451475insT | CA2695206525 | MMUT | c.1323_1324insA (p.Ala442SerfsTer6)
| |
6 | g.49451475A>C | CA450606056 | MMUT | c.1323T>G (p.Ala441=)
| |
6 | g.49451475A>G | CA450606058 | MMUT | c.1323T>C (p.Ala441=)
| |
6 | g.49451475A>T | CA450606059 | MMUT | c.1323T>A (p.Ala441=)
| ClinVar gnomAD v4 |
6 | g.49451476G>A | CA364398635 | MMUT | c.1322C>T (p.Ala441Val)
| |
6 | g.49451476G>C | CA364398633 | MMUT | c.1322C>G (p.Ala441Gly)
| |
6 | g.49451476G>T | CA364398631 | MMUT | c.1322C>A (p.Ala441Asp)
| |
6 | g.49451477C>A | CA364398636 | MMUT | c.1321G>T (p.Ala441Ser)
| |
6 | g.49451477C>G | CA364398638 | MMUT | c.1321G>C (p.Ala441Pro)
| |
6 | g.49451477C>T | CA364398640 | MMUT | c.1321G>A (p.Ala441Thr)
| |
6 | g.49451478A>C | CA364398642 | MMUT | c.1320T>G (p.Asp440Glu)
| |
6 | g.49451478A>G | CA450606066 | MMUT | c.1320T>C (p.Asp440=)
| |
6 | g.49451478A>T | CA364398644 | MMUT | c.1320T>A (p.Asp440Glu)
| gnomAD v4 |
6 | g.49451479T>A | CA364398646 | MMUT | c.1319A>T (p.Asp440Val)
| |
6 | g.49451479T>C | CA364398648 | MMUT | c.1319A>G (p.Asp440Gly)
| |
6 | g.49451479T>G | CA364398649 | MMUT | c.1319A>C (p.Asp440Ala)
| |
6 | g.49451480C>A | CA364398650 | MMUT | c.1318G>T (p.Asp440Tyr)
| |
6 | g.49451480C>G | CA364398651 | MMUT | c.1318G>C (p.Asp440His)
| |
6 | g.49451480C>T | CA364398652 | MMUT | c.1318G>A (p.Asp440Asn)
| |
6 | g.49451481A= | CA1627389280 | MMUT | c.1317T= (p.Tyr439=)
| |
6 | g.49451481A>C | CA364398653 | MMUT | c.1317T>G (p.Tyr439Ter)
| |
6 | g.49451481A>G | CA450606075 | MMUT | c.1317T>C (p.Tyr439=)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49451481A>T | CA364398654 | MMUT | c.1317T>A (p.Tyr439Ter)
| |
6 | g.49451482T>A | CA364398657 | MMUT | c.1316A>T (p.Tyr439Phe)
| |
6 | g.49451482T>C | CA364398655 | MMUT | c.1316A>G (p.Tyr439Cys)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
6 | g.49451482T>G | CA364398656 | MMUT | c.1316A>C (p.Tyr439Ser)
| |
6 | g.49451482T= | CA1627389281 | MMUT | c.1316A= (p.Tyr439=)
| |
6 | g.49451483A= | CA1627389282 | MMUT | c.1315T= (p.Tyr439=)
| |
6 | g.49451483A>C | CA364398658 | MMUT | c.1315T>G (p.Tyr439Asp)
| ClinVar dbSNP |
6 | g.49451483A>G | CA364398659 | MMUT | c.1315T>C (p.Tyr439His)
| dbSNP gnomAD v4 |
6 | g.49451483A>T | CA364398660 | MMUT | c.1315T>A (p.Tyr439Asn)
| |
6 | g.49451484A>C | CA450606090 | MMUT | c.1314T>G (p.Val438=)
| |
6 | g.49451484A>G | CA450606089 | MMUT | c.1314T>C (p.Val438=)
| |
6 | g.49451484A>T | CA450606087 | MMUT | c.1314T>A (p.Val438=)
| |
6 | g.49451485A>C | CA364398661 | MMUT | c.1313T>G (p.Val438Gly)
| |
6 | g.49451485A>G | CA364398662 | MMUT | c.1313T>C (p.Val438Ala)
| |
6 | g.49451485A>T | CA364398663 | MMUT | c.1313T>A (p.Val438Asp)
| |
6 | g.49451486C>A | CA364398664 | MMUT | c.1312G>T (p.Val438Phe)
| |
6 | g.49451486C>G | CA364398665 | MMUT | c.1312G>C (p.Val438Leu)
| |
6 | g.49451486C>T | CA364398666 | MMUT | c.1312G>A (p.Val438Ile)
| |
6 | g.49451486_49451487insT | CA2679046687 | MMUT | c.1311_1312insA (p.Val438SerfsTer3)
| gnomAD v4 |
6 | g.49451487A>C | CA364398667 | MMUT | c.1311T>G (p.Asp437Glu)
| |
6 | g.49451487A>G | CA450606100 | MMUT | c.1311T>C (p.Asp437=)
| |
6 | g.49451487A>T | CA364398668 | MMUT | c.1311T>A (p.Asp437Glu)
| |
6 | g.49451488T>A | CA364398671 | MMUT | c.1310A>T (p.Asp437Val)
| |
6 | g.49451488T>C | CA364398670 | MMUT | c.1310A>G (p.Asp437Gly)
| |
6 | g.49451488T>G | CA364398669 | MMUT | c.1310A>C (p.Asp437Ala)
| |
6 | g.49451489C>A | CA364398672 | MMUT | c.1309G>T (p.Asp437Tyr)
| gnomAD v4 |
6 | g.49451489C= | CA1627389283 | MMUT | c.1309G= (p.Asp437=)
| |
6 | g.49451489C>G | CA364398673 | MMUT | c.1309G>C (p.Asp437His)
| |
6 | g.49451489C>T | CA3846922 | MMUT | c.1309G>A (p.Asp437Asn)
| dbSNP ExAC gnomAD v2 |
6 | g.49451490A= | CA1627389284 | MMUT | c.1308T= (p.Asn436=)
| |
6 | g.49451490A>C | CA364398674 | MMUT | c.1308T>G (p.Asn436Lys)
| |
6 | g.49451490A>G | CA3846923 | MMUT | c.1308T>C (p.Asn436=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49451490A>T | CA364398675 | MMUT | c.1308T>A (p.Asn436Lys)
| |
6 | g.49451491T>A | CA364398676 | MMUT | c.1307A>T (p.Asn436Ile)
| gnomAD v4 |
6 | g.49451491T>C | CA364398677 | MMUT | c.1307A>G (p.Asn436Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49451491T>G | CA364398678 | MMUT | c.1307A>C (p.Asn436Thr)
| |
6 | g.49451491T= | CA1627389285 | MMUT | c.1307A= (p.Asn436=)
| |
6 | g.49451492T>A | CA364398679 | MMUT | c.1306A>T (p.Asn436Tyr)
| |
6 | g.49451492T>C | CA364398680 | MMUT | c.1306A>G (p.Asn436Asp)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49451492T>G | CA364398681 | MMUT | c.1306A>C (p.Asn436His)
| |
6 | g.49451492T= | CA1627389286 | MMUT | c.1306A= (p.Asn436=)
| |
6 | g.49451493T>A | CA138796317 | MMUT | c.1305A>T (p.Thr435=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49451493T>C | CA450606118 | MMUT | c.1305A>G (p.Thr435=)
| |
6 | g.49451493T>G | CA450606119 | MMUT | c.1305A>C (p.Thr435=)
| |
6 | g.49451493T= | CA1627389287 | MMUT | c.1305A= (p.Thr435=)
| |
6 | g.49451494G>A | CA364398682 | MMUT | c.1304C>T (p.Thr435Ile)
| |
6 | g.49451494G>C | CA364398683 | MMUT | c.1304C>G (p.Thr435Arg)
| |
6 | g.49451494G>T | CA364398684 | MMUT | c.1304C>A (p.Thr435Lys)
| |
6 | g.49451495T>A | CA364398687 | MMUT | c.1303A>T (p.Thr435Ser)
| |
6 | g.49451495T>C | CA364398686 | MMUT | c.1303A>G (p.Thr435Ala)
| |
6 | g.49451495T>G | CA364398685 | MMUT | c.1303A>C (p.Thr435Pro)
| gnomAD v4 |
6 | g.49451496G>A | CA450606127 | MMUT | c.1302C>T (p.Leu434=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49451496G>C | CA450606130 | MMUT | c.1302C>G (p.Leu434=)
| COSMIC |
6 | g.49451496G= | CA1627389288 | MMUT | c.1302C= (p.Leu434=)
| |
6 | g.49451496G>T | CA450606129 | MMUT | c.1302C>A (p.Leu434=)
| ClinVar |
6 | g.49451498_49451499del | CA2695206526 | MMUT | c.1301_1302del (p.Leu434HisfsTer3)
| |
6 | g.49451497A>C | CA364398688 | MMUT | c.1301T>G (p.Leu434Arg)
| |
6 | g.49451497A>G | CA364398689 | MMUT | c.1301T>C (p.Leu434Pro)
| |
6 | g.49451497A>T | CA364398690 | MMUT | c.1301T>A (p.Leu434His)
| |
6 | g.49451498G>A | CA364398691 | MMUT | c.1300C>T (p.Leu434Phe)
| |
6 | g.49451498G>C | CA364398692 | MMUT | c.1300C>G (p.Leu434Val)
| gnomAD v4 |
6 | g.49451498G>T | CA364398693 | MMUT | c.1300C>A (p.Leu434Ile)
| dbSNP |
6 | g.49451499A= | CA1627389289 | MMUT | c.1299T= (p.Cys433=)
| |
6 | g.49451499A>C | CA138796319 | MMUT | c.1299T>G (p.Cys433Trp)
| dbSNP |
6 | g.49451499A>G | CA450606140 | MMUT | c.1299T>C (p.Cys433=)
| |
6 | g.49451499A>T | CA364398694 | MMUT | c.1299T>A (p.Cys433Ter)
| |
6 | g.49451500C>A | CA364398695 | MMUT | c.1298G>T (p.Cys433Phe)
| |
6 | g.49451500C= | CA1627389290 | MMUT | c.1298G= (p.Cys433=)
| |
6 | g.49451500C>G | CA364398696 | MMUT | c.1298G>C (p.Cys433Ser)
| |
6 | g.49451500C>T | CA364398697 | MMUT | c.1298G>A (p.Cys433Tyr)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49451501A= | CA1627389291 | MMUT | c.1297T= (p.Cys433=)
| |
6 | g.49451501A>C | CA364398699 | MMUT | c.1297T>G (p.Cys433Gly)
| |
6 | g.49451501A>G | CA3846924 | MMUT | c.1297T>C (p.Cys433Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49451501A>T | CA364398698 | MMUT | c.1297T>A (p.Cys433Ser)
| |
6 | g.49451502T>A | CA364398700 | MMUT | c.1296A>T (p.Glu432Asp)
| |
6 | g.49451502T>C | CA450606158 | MMUT | c.1296A>G (p.Glu432=)
| |
6 | g.49451502T>G | CA3846925 | MMUT | c.1296A>C (p.Glu432Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49451502T= | CA1627389292 | MMUT | c.1296A= (p.Glu432=)
| |
6 | g.49451503T>A | CA364398701 | MMUT | c.1295A>T (p.Glu432Val)
| |
6 | g.49451503T>C | CA364398702 | MMUT | c.1295A>G (p.Glu432Gly)
| dbSNP gnomAD v4 |
6 | g.49451503T>G | CA364398703 | MMUT | c.1295A>C (p.Glu432Ala)
| ClinVar dbSNP |
6 | g.49451503T= | CA1627389293 | MMUT | c.1295A= (p.Glu432=)
| |
6 | g.49451504C>A | CA364398706 | MMUT | c.1294G>T (p.Glu432Ter)
| |
6 | g.49451504C>G | CA364398705 | MMUT | c.1294G>C (p.Glu432Gln)
| |
6 | g.49451504C>T | CA364398704 | MMUT | c.1294G>A (p.Glu432Lys)
| |
6 | g.49451505C>A | CA364398707 | MMUT | c.1293G>T (p.Met431Ile)
| |
6 | g.49451505C= | CA1627389294 | MMUT | c.1293G= (p.Met431=)
| |
6 | g.49451505C>G | CA364398708 | MMUT | c.1293G>C (p.Met431Ile)
| |
6 | g.49451505C>T | CA364398709 | MMUT | c.1293G>A (p.Met431Ile)
| ClinVar dbSNP |
6 | g.49451506A= | CA1627389295 | MMUT | c.1292T= (p.Met431=)
| |
6 | g.49451506A>C | CA364398710 | MMUT | c.1292T>G (p.Met431Arg)
| |
6 | g.49451506A>G | CA138796325 | MMUT | c.1292T>C (p.Met431Thr)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49451506A>T | CA364398711 | MMUT | c.1292T>A (p.Met431Lys)
| |
6 | g.49451507T>A | CA364398712 | MMUT | c.1291A>T (p.Met431Leu)
| |
6 | g.49451507T>C | CA364398714 | MMUT | c.1291A>G (p.Met431Val)
| |
6 | g.49451507T>G | CA364398713 | MMUT | c.1291A>C (p.Met431Leu)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49451507T= | CA1627389296 | MMUT | c.1291A= (p.Met431=)
| |
6 | g.49451508C>A | CA364398715 | MMUT | c.1290G>T (p.Met430Ile)
| |
6 | g.49451508C>G | CA364398716 | MMUT | c.1290G>C (p.Met430Ile)
| |
6 | g.49451508C>T | CA364398717 | MMUT | c.1290G>A (p.Met430Ile)
| |
6 | g.49451509A>C | CA364398718 | MMUT | c.1289T>G (p.Met430Arg)
| |
6 | g.49451509A>G | CA364398719 | MMUT | c.1289T>C (p.Met430Thr)
| |
6 | g.49451509A>T | CA364398720 | MMUT | c.1289T>A (p.Met430Lys)
| |
6 | g.49451510T>A | CA364398721 | MMUT | c.1288A>T (p.Met430Leu)
| |
6 | g.49451510T>C | CA364398722 | MMUT | c.1288A>G (p.Met430Val)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49451510T>G | CA364398723 | MMUT | c.1288A>C (p.Met430Leu)
| |
6 | g.49451510T= | CA1627389297 | MMUT | c.1288A= (p.Met430=)
| |
6 | g.49451511G>A | CA450606181 | MMUT | c.1287C>T (p.Tyr429=)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49451511G>C | CA364398724 | MMUT | c.1287C>G (p.Tyr429Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49451511G= | CA1627389298 | MMUT | c.1287C= (p.Tyr429=)
| |
6 | g.49451511G>T | CA364398725 | MMUT | c.1287C>A (p.Tyr429Ter)
| ClinVar dbSNP |
6 | g.49451512T>A | CA364398727 | MMUT | c.1286A>T (p.Tyr429Phe)
| |
6 | g.49451512T>C | CA3846926 | MMUT | c.1286A>G (p.Tyr429Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.49451512T>G | CA364398726 | MMUT | c.1286A>C (p.Tyr429Ser)
| |
6 | g.49451512T= | CA1627389299 | MMUT | c.1286A= (p.Tyr429=)
| |
6 | g.49451513A>C | CA364398728 | MMUT | c.1285T>G (p.Tyr429Asp)
| |
6 | g.49451513A>G | CA364398730 | MMUT | c.1285T>C (p.Tyr429His)
| |
6 | g.49451513A>T | CA364398729 | MMUT | c.1285T>A (p.Tyr429Asn)
| |
6 | g.49451514A>C | CA450606194 | MMUT | c.1284T>G (p.Ser428=)
| COSMIC |
6 | g.49451514A>G | CA450606196 | MMUT | c.1284T>C (p.Ser428=)
| |
6 | g.49451514A>T | CA450606200 | MMUT | c.1284T>A (p.Ser428=)
| |
6 | g.49451515del | CA2580074724 | MMUT | c.1283del (p.Ser428PhefsTer3)
| ClinVar |
6 | g.49451515G>A | CA364398731 | MMUT | c.1283C>T (p.Ser428Phe)
| |
6 | g.49451515G>C | CA364398732 | MMUT | c.1283C>G (p.Ser428Cys)
| |
6 | g.49451515G>T | CA364398733 | MMUT | c.1283C>A (p.Ser428Tyr)
| |
6 | g.49451516A>C | CA364398734 | MMUT | c.1282T>G (p.Ser428Ala)
| |
6 | g.49451516A>G | CA364398735 | MMUT | c.1282T>C (p.Ser428Pro)
| |
6 | g.49451516A>T | CA364398736 | MMUT | c.1282T>A (p.Ser428Thr)
| |
6 | g.49451517A= | CA1627389300 | MMUT | c.1281T= (p.Gly427=)
| |
6 | g.49451517A>C | CA450606208 | MMUT | c.1281T>G (p.Gly427=)
| dbSNP |
6 | g.49451517A>G | CA450606210 | MMUT | c.1281T>C (p.Gly427=)
| |
6 | g.49451517A>T | CA450606211 | MMUT | c.1281T>A (p.Gly427=)
| |
6 | g.49451517_49451518delinsTA | CA2580074725 | MMUT | c.1280_1281delinsTA (p.Gly427Val)
| ClinVar |
6 | g.49451518C>A | CA364398737 | MMUT | c.1280G>T (p.Gly427Val)
| |
6 | g.49451518C= | CA1627389301 | MMUT | c.1280G= (p.Gly427=)
| |
6 | g.49451518C>G | CA364398738 | MMUT | c.1280G>C (p.Gly427Ala)
| |
6 | g.49451518C>T | CA347873 | MMUT | c.1280G>A (p.Gly427Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49451519C>A | CA364398739 | MMUT | c.1279G>T (p.Gly427Cys)
| |
6 | g.49451519C= | CA1627389302 | MMUT | c.1279G= (p.Gly427=)
| |
6 | g.49451519C>G | CA364398740 | MMUT | c.1279G>C (p.Gly427Arg)
| |
6 | g.49451519C>T | CA364398741 | MMUT | c.1279G>A (p.Gly427Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.49451520T>A | CA3846927 | MMUT | c.1278A>T (p.Gly426=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49451520T>C | CA450606216 | MMUT | c.1278A>G (p.Gly426=)
| |
6 | g.49451520T>G | CA450606217 | MMUT | c.1278A>C (p.Gly426=)
| |
6 | g.49451520T= | CA1627389303 | MMUT | c.1278A= (p.Gly426=)
| |
6 | g.49451521C>A | CA364398742 | MMUT | c.1277G>T (p.Gly426Val)
| gnomAD v4 |
6 | g.49451521C= | CA1627389304 | MMUT | c.1277G= (p.Gly426=)
| |
6 | g.49451521C>G | CA138796331 | MMUT | c.1277G>C (p.Gly426Ala)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49451521C>T | CA10575866 | MMUT | c.1277G>A (p.Gly426Glu)
| ClinVar dbSNP |
6 | g.49451522C>A | CA364398743 | MMUT | c.1276G>T (p.Gly426Ter)
| |
6 | g.49451522C= | CA1627389305 | MMUT | c.1276G= (p.Gly426=)
| |
6 | g.49451522C>G | CA364398744 | MMUT | c.1276G>C (p.Gly426Arg)
| |
6 | g.49451522C>T | CA138796335 | MMUT | c.1276G>A (p.Gly426Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.49451523C>A | CA364398745 | MMUT | c.1275G>T (p.Trp425Cys)
| |
6 | g.49451523C>G | CA364398746 | MMUT | c.1275G>C (p.Trp425Cys)
| |
6 | g.49451523C>T | CA364398747 | MMUT | c.1275G>A (p.Trp425Ter)
| |
6 | g.49451524C>A | CA364398748 | MMUT | c.1274G>T (p.Trp425Leu)
| |
6 | g.49451524C>G | CA364398749 | MMUT | c.1274G>C (p.Trp425Ser)
| |
6 | g.49451524C>T | CA364398750 | MMUT | c.1274G>A (p.Trp425Ter)
| ClinVar dbSNP gnomAD v4 |
6 | g.49451525A>C | CA364398752 | MMUT | c.1273T>G (p.Trp425Gly)
| |
6 | g.49451525A>G | CA364398753 | MMUT | c.1273T>C (p.Trp425Arg)
| |
6 | g.49451525A>T | CA364398751 | MMUT | c.1273T>A (p.Trp425Arg)
| |
6 | g.49451526A>C | CA450606242 | MMUT | c.1272T>G (p.Pro424=)
| |
6 | g.49451526A>G | CA450606240 | MMUT | c.1272T>C (p.Pro424=)
| ClinVar dbSNP gnomAD v4 |
6 | g.49451526A>T | CA450606239 | MMUT | c.1272T>A (p.Pro424=)
| |
6 | g.49451527G>A | CA10575867 | MMUT | c.1271C>T (p.Pro424Leu)
| ClinVar dbSNP |
6 | g.49451527G>C | CA364398754 | MMUT | c.1271C>G (p.Pro424Arg)
| |
6 | g.49451527G= | CA1627389306 | MMUT | c.1271C= (p.Pro424=)
| |
6 | g.49451527G>T | CA364398755 | MMUT | c.1271C>A (p.Pro424His)
| |
6 | g.49451528del | CA2679046690 | MMUT | c.1271del (p.Pro424LeufsTer7)
| gnomAD v4 |
6 | g.49451528G>A | CA3846928 | MMUT | c.1270C>T (p.Pro424Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49451528G>C | CA364398756 | MMUT | c.1270C>G (p.Pro424Ala)
| dbSNP gnomAD v4 |
6 | g.49451528G= | CA1627389307 | MMUT | c.1270C= (p.Pro424=)
| |
6 | g.49451528G>T | CA364398757 | MMUT | c.1270C>A (p.Pro424Thr)
| gnomAD v4 |
6 | g.49451529A>C | CA364398759 | MMUT | c.1269T>G (p.Asp423Glu)
| |
6 | g.49451529A>G | CA450606251 | MMUT | c.1269T>C (p.Asp423=)
| |
6 | g.49451529A>T | CA364398758 | MMUT | c.1269T>A (p.Asp423Glu)
| |