4 | g.87612009_87612016del | CA2671358293 | DSPP | c.52-96_52-89del (n.52-96_52-89del)
| gnomAD v4 |
4 | g.87612009_87612020del | CA2671358292 | DSPP | c.52-96_52-85del (n.52-96_52-85del)
| gnomAD v4 |
4 | g.87612009_87612017delinsATTTGTGTG | CA1474384243 | DSPP | c.52-96_52-88delinsATTTGTGTG (n.52-96_52-88delinsATTTGTGTG)
| |
4 | g.87612010_87612012del | CA2671358295 | DSPP | c.52-95_52-93del (n.52-95_52-93del)
| gnomAD v4 |
4 | g.87612011_87612012dup | CA799576985 | DSPP | c.52-94_52-93dup (n.52-94_52-93dup)
| dbSNP gnomAD v4 |
4 | g.87612011_87612018del | CA552859300 | DSPP | c.52-94_52-87del (n.52-94_52-87del)
| dbSNP gnomAD v2 gnomAD v4 |
4 | g.87612011_87612013delinsTTG | CA2695196626 | DSPP | c.52-94_52-92delinsTTG (n.52-94_52-92delinsTTG)
| |
4 | g.87612012_87612014dup | CA917246887 | DSPP | c.52-93_52-91dup (n.52-93_52-91dup)
| dbSNP |
4 | g.87612011_87612017delinsTTGTGTG | CA2695238734 | DSPP | c.52-94_52-88delinsTTGTGTG (n.52-94_52-88delinsTTGTGTG)
| |
4 | g.87612011_87612019delinsTTGTGTGTG | CA2695196103 | DSPP | c.52-94_52-86delinsTTGTGTGTG (n.52-94_52-86delinsTTGTGTGTG)
| |
4 | g.87612011_87612029delinsTTGTGTGTGTGTGTGTGTG | CA1474384246 | DSPP | c.52-94_52-76delinsTTGTGTGTGTGTGTGTGTG (n.52-94_52-76delinsTTGTGTGTGTGTGTGTGTG)
| |
4 | g.87612012_87612013delinsTG | CA1474384248 | DSPP | c.52-93_52-92delinsTG (n.52-93_52-92delinsTG)
| |
4 | g.87612040_87612041dup | CA100849067 | DSPP | c.52-65_52-64dup (n.52-65_52-64dup)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87612038_87612041dup | CA799577011 | DSPP | c.52-67_52-64dup (n.52-67_52-64dup)
| dbSNP gnomAD v3 gnomAD v4 |
4 | g.87612036_87612041dup | CA799577012 | DSPP | c.52-69_52-64dup (n.52-69_52-64dup)
| dbSNP gnomAD v3 gnomAD v4 |
4 | g.87612034_87612041dup | CA1474384249 | DSPP | c.52-71_52-64dup (n.52-71_52-64dup)
| dbSNP gnomAD v4 |
4 | g.87612032_87612041dup | CA1065114878 | DSPP | c.52-73_52-64dup (n.52-73_52-64dup)
| dbSNP gnomAD v3 gnomAD v4 |
4 | g.87612040_87612041del | CA100849068 | DSPP | c.52-65_52-64del (n.52-65_52-64del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87612038_87612041del | CA100849070 | DSPP | c.52-67_52-64del (n.52-67_52-64del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87612036_87612041del | CA100849078 | DSPP | c.52-69_52-64del (n.52-69_52-64del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87612034_87612041del | CA100849082 | DSPP | c.52-71_52-64del (n.52-71_52-64del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87612032_87612041del | CA100849066 | DSPP | c.52-73_52-64del (n.52-73_52-64del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87612030_87612041del | CA799577002 | DSPP | c.52-75_52-64del (n.52-75_52-64del)
| dbSNP gnomAD v3 gnomAD v4 |
4 | g.87612028_87612041del | CA2540061932 | DSPP | c.52-77_52-64del (n.52-77_52-64del)
| gnomAD v4 |
4 | g.87612026_87612041del | CA799577005 | DSPP | c.52-79_52-64del (n.52-79_52-64del)
| dbSNP gnomAD v3 gnomAD v4 |
4 | g.87612024_87612041del | CA799577004 | DSPP | c.52-81_52-64del (n.52-81_52-64del)
| dbSNP gnomAD v3 gnomAD v4 |
4 | g.87612022_87612041del | CA2671358298 | DSPP | c.52-83_52-64del (n.52-83_52-64del)
| gnomAD v4 |
4 | g.87612013del | CA552859304 | DSPP | c.52-92del (n.52-92del)
| dbSNP gnomAD v2 |
4 | g.87612013G>A | CA2578139718 | DSPP | c.52-92G>A (n.52-92G>A)
| |
4 | g.87612013G= | CA1474384250 | DSPP | c.52-92G= (n.52-92G=)
| |
4 | g.87612013G>T | CA799577020 | DSPP | c.52-92G>T (n.52-92G>T)
| dbSNP gnomAD v3 gnomAD v4 |
4 | g.87612013_87612014insAG | CA2578139719 | DSPP | c.52-92_52-91insAG (n.52-92_52-91insAG)
| gnomAD v4 |
4 | g.87612014T>A | CA552859305 | DSPP | c.52-91T>A (n.52-91T>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87612014T= | CA1474384251 | DSPP | c.52-91T= (n.52-91T=)
| |
4 | g.87612014_87612015delinsTG | CA1474384252 | DSPP | c.52-91_52-90delinsTG (n.52-91_52-90delinsTG)
| |
4 | g.87612015del | CA917246892 | DSPP | c.52-90del (n.52-90del)
| dbSNP |
4 | g.87612015G>A | CA2671358300 | DSPP | c.52-90G>A (n.52-90G>A)
| gnomAD v4 |
4 | g.87612015G= | CA1474384253 | DSPP | c.52-90G= (n.52-90G=)
| |
4 | g.87612015G>T | CA1474384254 | DSPP | c.52-90G>T (n.52-90G>T)
| dbSNP |
4 | g.87612015_87612019del | CA2671358301 | DSPP | c.52-90_52-86del (n.52-90_52-86del)
| gnomAD v4 |
4 | g.87612016T>A | CA2671358302 | DSPP | c.52-89T>A (n.52-89T>A)
| gnomAD v4 |
4 | g.87612017del | CA2671358303 | DSPP | c.52-88del (n.52-88del)
| gnomAD v4 |
4 | g.87612017G>A | CA2671358304 | DSPP | c.52-88G>A (n.52-88G>A)
| gnomAD v4 |
4 | g.87612017G= | CA1474384255 | DSPP | c.52-88G= (n.52-88G=)
| |
4 | g.87612017G>T | CA552859306 | DSPP | c.52-88G>T (n.52-88G>T)
| dbSNP gnomAD v2 |
4 | g.87612018del | CA2762527061 | DSPP | c.52-87del (n.52-87del)
| |
4 | g.87612018T>C | CA2671358305 | DSPP | c.52-87T>C (n.52-87T>C)
| gnomAD v4 |
4 | g.87612019del | CA2671358306 | DSPP | c.52-86del (n.52-86del)
| gnomAD v4 |
4 | g.87612019G>C | CA2671358307 | DSPP | c.52-86G>C (n.52-86G>C)
| gnomAD v4 |
4 | g.87612019G= | CA1474384256 | DSPP | c.52-86G= (n.52-86G=)
| |
4 | g.87612019G>T | CA1474384257 | DSPP | c.52-86G>T (n.52-86G>T)
| dbSNP |
4 | g.87612020_87612026del | CA2762527062 | DSPP | c.52-85_52-79del (n.52-85_52-79del)
| |
4 | g.87612021G>A | CA2578139726 | DSPP | c.52-84G>A (n.52-84G>A)
| gnomAD v4 |
4 | g.87612021G= | CA1474384258 | DSPP | c.52-84G= (n.52-84G=)
| |
4 | g.87612021G>T | CA799577043 | DSPP | c.52-84G>T (n.52-84G>T)
| dbSNP |
4 | g.87612021_87612027del | CA2671358308 | DSPP | c.52-84_52-78del (n.52-84_52-78del)
| gnomAD v4 |
4 | g.87612022T>C | CA2578139729 | DSPP | c.52-83T>C (n.52-83T>C)
| gnomAD v4 |
4 | g.87612023G>C | CA2578139730 | DSPP | c.52-82G>C (n.52-82G>C)
| |
4 | g.87612023G>T | CA2671358309 | DSPP | c.52-82G>T (n.52-82G>T)
| gnomAD v4 |
4 | g.87612024T>C | CA2671358310 | DSPP | c.52-81T>C (n.52-81T>C)
| gnomAD v4 |
4 | g.87612024T>G | CA1474384260 | DSPP | c.52-81T>G (n.52-81T>G)
| dbSNP |
4 | g.87612024T= | CA1474384259 | DSPP | c.52-81T= (n.52-81T=)
| |
4 | g.87612025del | CA2671358311 | DSPP | c.52-80del (n.52-80del)
| gnomAD v4 |
4 | g.87612025G>A | CA2671358312 | DSPP | c.52-80G>A (n.52-80G>A)
| gnomAD v4 |
4 | g.87612026T>C | CA2671358313 | DSPP | c.52-79T>C (n.52-79T>C)
| gnomAD v4 |
4 | g.87612027del | CA2671358314 | DSPP | c.52-78del (n.52-78del)
| gnomAD v4 |
4 | g.87612027G>A | CA2578139731 | DSPP | c.52-78G>A (n.52-78G>A)
| gnomAD v4 |
4 | g.87612028T>C | CA1474384262 | DSPP | c.52-77T>C (n.52-77T>C)
| dbSNP |
4 | g.87612028T= | CA1474384261 | DSPP | c.52-77T= (n.52-77T=)
| |
4 | g.87612029del | CA2671358315 | DSPP | c.52-76del (n.52-76del)
| gnomAD v4 |
4 | g.87612029G>A | CA2578139734 | DSPP | c.52-76G>A (n.52-76G>A)
| gnomAD v4 |
4 | g.87612029_87612042del | CA2578139733 | DSPP | c.52-76_52-63del (n.52-76_52-63del)
| |
4 | g.87612030T>C | CA2671358316 | DSPP | c.52-75T>C (n.52-75T>C)
| gnomAD v4 |
4 | g.87612031G>A | CA2578139735 | DSPP | c.52-74G>A (n.52-74G>A)
| gnomAD v4 |
4 | g.87612031_87612042del | CA2671358317 | DSPP | c.52-74_52-63del (n.52-74_52-63del)
| gnomAD v4 |
4 | g.87612032T>A | CA2671358318 | DSPP | c.52-73T>A (n.52-73T>A)
| gnomAD v4 |
4 | g.87612032T>C | CA1474384264 | DSPP | c.52-73T>C (n.52-73T>C)
| dbSNP gnomAD v4 |
4 | g.87612032T= | CA1474384263 | DSPP | c.52-73T= (n.52-73T=)
| |
4 | g.87612033_87612034insCG | CA799577047 | DSPP | c.52-72_52-71insCG (n.52-72_52-71insCG)
| dbSNP gnomAD v3 gnomAD v4 |
4 | g.87612035_87612036insCGTG | CA2671358320 | DSPP | c.52-70_52-69insCGTG (n.52-70_52-69insCGTG)
| gnomAD v4 |
4 | g.87612033_87612042del | CA2671358319 | DSPP | c.52-72_52-63del (n.52-72_52-63del)
| gnomAD v4 |
4 | g.87612034T>C | CA100849094 | DSPP | c.52-71T>C (n.52-71T>C)
| dbSNP |
4 | g.87612034T= | CA1474384265 | DSPP | c.52-71T= (n.52-71T=)
| |
4 | g.87612035del | CA2671358321 | DSPP | c.52-70del (n.52-70del)
| gnomAD v4 |
4 | g.87612035G>A | CA2671358323 | DSPP | c.52-70G>A (n.52-70G>A)
| gnomAD v4 |
4 | g.87612035G>C | CA799577055 | DSPP | c.52-70G>C (n.52-70G>C)
| dbSNP gnomAD v4 |
4 | g.87612035G= | CA1474384266 | DSPP | c.52-70G= (n.52-70G=)
| |
4 | g.87612035G>T | CA2671358324 | DSPP | c.52-70G>T (n.52-70G>T)
| gnomAD v4 |
4 | g.87612035_87612042del | CA2671358322 | DSPP | c.52-70_52-63del (n.52-70_52-63del)
| gnomAD v4 |
4 | g.87612036T>A | CA2578139738 | DSPP | c.52-69T>A (n.52-69T>A)
| |
4 | g.87612036T>C | CA1474384268 | DSPP | c.52-69T>C (n.52-69T>C)
| dbSNP gnomAD v4 |
4 | g.87612036T= | CA1474384267 | DSPP | c.52-69T= (n.52-69T=)
| |
4 | g.87612037G>A | CA799577056 | DSPP | c.52-68G>A (n.52-68G>A)
| dbSNP gnomAD v3 gnomAD v4 |
4 | g.87612037G>C | CA2601492279 | DSPP | c.52-68G>C (n.52-68G>C)
| dbSNP gnomAD v3 gnomAD v4 |
4 | g.87612037G= | CA1474384269 | DSPP | c.52-68G= (n.52-68G=)
| |
4 | g.87612037G>T | CA2521340086 | DSPP | c.52-68G>T (n.52-68G>T)
| |
4 | g.87612037_87612041del | CA2671358325 | DSPP | c.52-68_52-64del (n.52-68_52-64del)
| gnomAD v4 |
4 | g.87612037_87612042del | CA2671358326 | DSPP | c.52-68_52-63del (n.52-68_52-63del)
| dbSNP gnomAD v4 |
4 | g.87612038T>A | CA2762527063 | DSPP | c.52-67T>A (n.52-67T>A)
| |
4 | g.87612038T>C | CA2578139742 | DSPP | c.52-67T>C (n.52-67T>C)
| gnomAD v4 |
4 | g.87612038_87612042delinsTGTGC | CA1474384270 | DSPP | c.52-67_52-63delinsTGTGC (n.52-67_52-63delinsTGTGC)
| |
4 | g.87612039G>A | CA1065114881 | DSPP | c.52-66G>A (n.52-66G>A)
| dbSNP gnomAD v3 gnomAD v4 |
4 | g.87612039G= | CA1474384271 | DSPP | c.52-66G= (n.52-66G=)
| |
4 | g.87612039_87612042del | CA553085298 | DSPP | c.52-66_52-63del (n.52-66_52-63del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87612040T>A | CA2671358327 | DSPP | c.52-65T>A (n.52-65T>A)
| gnomAD v4 |
4 | g.87612040T>C | CA799577062 | DSPP | c.52-65T>C (n.52-65T>C)
| dbSNP gnomAD v3 gnomAD v4 |
4 | g.87612040T= | CA1474384272 | DSPP | c.52-65T= (n.52-65T=)
| |
4 | g.87612041G>A | CA2578139744 | DSPP | c.52-64G>A (n.52-64G>A)
| gnomAD v4 |
4 | g.87612041G>C | CA2671358330 | DSPP | c.52-64G>C (n.52-64G>C)
| gnomAD v4 |
4 | g.87612041G>T | CA2671358331 | DSPP | c.52-64G>T (n.52-64G>T)
| gnomAD v4 |
4 | g.87612041_87612042del | CA2671358329 | DSPP | c.52-64_52-63del (n.52-64_52-63del)
| gnomAD v4 |
4 | g.87612041_87612042dup | CA2671358328 | DSPP | c.52-64_52-63dup (n.52-64_52-63dup)
| gnomAD v4 |
4 | g.87612042C>A | CA2671358332 | DSPP | c.52-63C>A (n.52-63C>A)
| gnomAD v4 |
4 | g.87612042C= | CA1474384273 | DSPP | c.52-63C= (n.52-63C=)
| |
4 | g.87612042C>T | CA1474384274 | DSPP | c.52-63C>T (n.52-63C>T)
| dbSNP gnomAD v4 |
4 | g.87612043A>G | CA2671358333 | DSPP | c.52-62A>G (n.52-62A>G)
| gnomAD v4 |
4 | g.87612043A>T | CA2671358334 | DSPP | c.52-62A>T (n.52-62A>T)
| gnomAD v4 |
4 | g.87612044C>A | CA2578139745 | DSPP | c.52-61C>A (n.52-61C>A)
| gnomAD v4 |
4 | g.87612044C= | CA1474384275 | DSPP | c.52-61C= (n.52-61C=)
| |
4 | g.87612044C>T | CA100849098 | DSPP | c.52-61C>T (n.52-61C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87612045_87612048del | CA2578139746 | DSPP | c.52-60_52-57del (n.52-60_52-57del)
| |
4 | g.87612045G>A | CA100849101 | DSPP | c.52-60G>A (n.52-60G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87612045G>C | CA2671358335 | DSPP | c.52-60G>C (n.52-60G>C)
| gnomAD v4 |
4 | g.87612045G= | CA1474384276 | DSPP | c.52-60G= (n.52-60G=)
| |
4 | g.87612045G>T | CA2671358336 | DSPP | c.52-60G>T (n.52-60G>T)
| gnomAD v4 |
4 | g.87612046C>A | CA2671358338 | DSPP | c.52-59C>A (n.52-59C>A)
| gnomAD v4 |
4 | g.87612046C>G | CA2671358337 | DSPP | c.52-59C>G (n.52-59C>G)
| gnomAD v4 |
4 | g.87612047T>A | CA1474384278 | DSPP | c.52-58T>A (n.52-58T>A)
| dbSNP |
4 | g.87612047T>C | CA2578139747 | DSPP | c.52-58T>C (n.52-58T>C)
| gnomAD v4 |
4 | g.87612047T= | CA1474384277 | DSPP | c.52-58T= (n.52-58T=)
| |
4 | g.87612048C>A | CA2671358339 | DSPP | c.52-57C>A (n.52-57C>A)
| gnomAD v4 |
4 | g.87612048C= | CA1474384279 | DSPP | c.52-57C= (n.52-57C=)
| |
4 | g.87612048C>T | CA553085299 | DSPP | c.52-57C>T (n.52-57C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87612054_87612055del | CA2578139748 | DSPP | c.52-51_52-50del (n.52-51_52-50del)
| |
4 | g.87612052_87612055del | CA2671358340 | DSPP | c.52-53_52-50del (n.52-53_52-50del)
| gnomAD v4 |
4 | g.87612050C>A | CA2671358341 | DSPP | c.52-55C>A (n.52-55C>A)
| gnomAD v4 |
4 | g.87612052C>A | CA2671358342 | DSPP | c.52-53C>A (n.52-53C>A)
| gnomAD v4 |
4 | g.87612052C= | CA1474384280 | DSPP | c.52-53C= (n.52-53C=)
| |
4 | g.87612052C>T | CA100849108 | DSPP | c.52-53C>T (n.52-53C>T)
| dbSNP gnomAD v3 gnomAD v4 |
4 | g.87612054del | CA2671358343 | DSPP | c.52-51del (n.52-51del)
| gnomAD v4 |
4 | g.87612054C>A | CA2671358344 | DSPP | c.52-51C>A (n.52-51C>A)
| gnomAD v4 |
4 | g.87612054_87612056delinsCAT | CA1474384281 | DSPP | c.52-51_52-49delinsCAT (n.52-51_52-49delinsCAT)
| |
4 | g.87612057_87612058del | CA799577069 | DSPP | c.52-48_52-47del (n.52-48_52-47del)
| dbSNP gnomAD v3 gnomAD v4 |
4 | g.87612056T>C | CA1474384283 | DSPP | c.52-49T>C (n.52-49T>C)
| dbSNP |
4 | g.87612056T= | CA1474384282 | DSPP | c.52-49T= (n.52-49T=)
| |
4 | g.87612058T>C | CA100849118 | DSPP | c.52-47T>C (n.52-47T>C)
| dbSNP gnomAD v3 gnomAD v4 |
4 | g.87612058T>G | CA2671358345 | DSPP | c.52-47T>G (n.52-47T>G)
| gnomAD v4 |
4 | g.87612058T= | CA1474384284 | DSPP | c.52-47T= (n.52-47T=)
| |
4 | g.87612059T>C | CA2671358346 | DSPP | c.52-46T>C (n.52-46T>C)
| gnomAD v4 |
4 | g.87612060C>A | CA2671358347 | DSPP | c.52-45C>A (n.52-45C>A)
| gnomAD v4 |
4 | g.87612062C>A | CA2671358348 | DSPP | c.52-43C>A (n.52-43C>A)
| gnomAD v4 |
4 | g.87612062C>T | CA2762527064 | DSPP | c.52-43C>T (n.52-43C>T)
| |
4 | g.87612065del | CA2671358349 | DSPP | c.52-40del (n.52-40del)
| gnomAD v4 |
4 | g.87612064A= | CA1474384285 | DSPP | c.52-41A= (n.52-41A=)
| |
4 | g.87612064A>C | CA3000809 | DSPP | c.52-41A>C (n.52-41A>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87612065A>G | CA2578139750 | DSPP | c.52-40A>G (n.52-40A>G)
| |
4 | g.87612066T>A | CA3000810 | DSPP | c.52-39T>A (n.52-39T>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.87612066T= | CA1474384286 | DSPP | c.52-39T= (n.52-39T=)
| |
4 | g.87612067A>G | CA2671358350 | DSPP | c.52-38A>G (n.52-38A>G)
| gnomAD v4 |
4 | g.87612068A= | CA1474384287 | DSPP | c.52-37A= (n.52-37A=)
| |
4 | g.87612068A>C | CA553085300 | DSPP | c.52-37A>C (n.52-37A>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87612072C>A | CA3000811 | DSPP | c.52-33C>A (n.52-33C>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87612072C= | CA1474384288 | DSPP | c.52-33C= (n.52-33C=)
| |
4 | g.87612072C>T | CA1474384289 | DSPP | c.52-33C>T (n.52-33C>T)
| dbSNP |
4 | g.87612073C= | CA1474384290 | DSPP | c.52-32C= (n.52-32C=)
| |
4 | g.87612073C>G | CA553085301 | DSPP | c.52-32C>G (n.52-32C>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87612073C>T | CA799577078 | DSPP | c.52-32C>T (n.52-32C>T)
| dbSNP gnomAD v3 gnomAD v4 |
4 | g.87612074T>G | CA2671358351 | DSPP | c.52-31T>G (n.52-31T>G)
| gnomAD v4 |
4 | g.87612075T>G | CA2671358352 | DSPP | c.52-30T>G (n.52-30T>G)
| gnomAD v4 |
4 | g.87612077T>A | CA799577081 | DSPP | c.52-28T>A (n.52-28T>A)
| dbSNP |
4 | g.87612077T>C | CA2671358353 | DSPP | c.52-28T>C (n.52-28T>C)
| gnomAD v4 |
4 | g.87612077T= | CA1474384292 | DSPP | c.52-28T= (n.52-28T=)
| |
4 | g.87612077_87612078delinsTC | CA1474384291 | DSPP | c.52-28_52-27delinsTC (n.52-28_52-27delinsTC)
| |
4 | g.87612078del | CA553085302 | DSPP | c.52-27del (n.52-27del)
| dbSNP gnomAD v2 gnomAD v4 |
4 | g.87612078C= | CA1474384293 | DSPP | c.52-27C= (n.52-27C=)
| |
4 | g.87612078C>T | CA1474384294 | DSPP | c.52-27C>T (n.52-27C>T)
| dbSNP gnomAD v4 |
4 | g.87612081_87612103del | CA2695203458 | DSPP | c.52-24_52-2del (n.52-24_52-2del)
| |
4 | g.87612084C>A | CA2578139754 | DSPP | c.52-21C>A (n.52-21C>A)
| |
4 | g.87612084C= | CA1474384295 | DSPP | c.52-21C= (n.52-21C=)
| |
4 | g.87612084C>T | CA3000812 | DSPP | c.52-21C>T (n.52-21C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.87612085C= | CA1474384296 | DSPP | c.52-20C= (n.52-20C=)
| |
4 | g.87612085C>T | CA3000813 | DSPP | c.52-20C>T (n.52-20C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87612086A= | CA1474384297 | DSPP | c.52-19A= (n.52-19A=)
| |
4 | g.87612086A>C | CA1474384298 | DSPP | c.52-19A>C (n.52-19A>C)
| dbSNP |
4 | g.87612087G>C | CA799577085 | DSPP | c.52-18G>C (n.52-18G>C)
| dbSNP |
4 | g.87612087G= | CA1474384299 | DSPP | c.52-18G= (n.52-18G=)
| |
4 | g.87612089A>G | CA2671358354 | DSPP | c.52-16A>G (n.52-16A>G)
| gnomAD v4 |
4 | g.87612092T>C | CA3000814 | DSPP | c.52-13T>C (n.52-13T>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.87612092T= | CA1474384300 | DSPP | c.52-13T= (n.52-13T=)
| |
4 | g.87612094C= | CA1474384301 | DSPP | c.52-11C= (n.52-11C=)
| |
4 | g.87612094C>T | CA3000815 | DSPP | c.52-11C>T (n.52-11C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.87612096A= | CA1474384302 | DSPP | c.52-9A= (n.52-9A=)
| |
4 | g.87612096A>G | CA553085303 | DSPP | c.52-9A>G (n.52-9A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87612097C= | CA1474384303 | DSPP | c.52-8C= (n.52-8C=)
| |
4 | g.87612097C>T | CA3000816 | DSPP | c.52-8C>T (n.52-8C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87612099T>G | CA2695203459 | DSPP | c.52-6T>G (n.52-6T>G)
| |
4 | g.87612101del | CA913107611 | DSPP | c.52-4del (n.52-4del)
| |
4 | g.87612102C>A | CA553085304 | DSPP | c.52-3C>A (n.52-3C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87612102C= | CA1474384304 | DSPP | c.52-3C= (n.52-3C=)
| |
4 | g.87612102C>G | CA658820884 | DSPP | c.52-3C>G (n.52-3C>G)
| |
4 | g.87612102C>T | CA2578139757 | DSPP | c.52-3C>T (n.52-3C>T)
| gnomAD v4 |
4 | g.87612103del | CA2580071856 | DSPP | c.52-2del (n.52-2del)
| ClinVar |
4 | g.87612103A>C | CA357602688 | DSPP | c.52-2A>C (n.52-2A>C)
| |
4 | g.87612103A>G | CA357602689 | DSPP | c.52-2A>G (n.52-2A>G)
| ClinVar dbSNP |
4 | g.87612103A>T | CA357602690 | DSPP | c.52-2A>T (n.52-2A>T)
| |
4 | g.87612104G>A | CA357602691 | DSPP | c.52-1G>A (n.52-1G>A)
| gnomAD v4 |
4 | g.87612104G>C | CA16605124 | DSPP | c.52-1G>C (n.52-1G>C)
| ClinVar dbSNP |
4 | g.87612104G= | CA1474384305 | DSPP | c.52-1G= (n.52-1G=)
| |
4 | g.87612104G>T | CA357602692 | DSPP | c.52-1G>T (n.52-1G>T)
| |
4 | g.87612105del | CA2580071857 | DSPP | c.52del
| ClinVar |
4 | g.87612105G>A | CA357602694 | DSPP | c.52G>A (p.Val18Ile)
| |
4 | g.87612105G>C | CA357602693 | DSPP | c.52G>C (p.Val18Leu)
| |
4 | g.87612105G= | CA1474384306 | DSPP | c.52G= (p.Val18=)
| |
4 | g.87612105G>T | CA126927 | DSPP | c.52G>T (p.Val18Phe)
| ClinVar dbSNP gnomAD v4 |
4 | g.87612106T>A | CA357602695 | DSPP | c.53T>A (p.Val18Asp)
| ClinVar dbSNP |
4 | g.87612106T>C | CA357602696 | DSPP | c.53T>C (p.Val18Ala)
| ClinVar |
4 | g.87612106T>G | CA357602697 | DSPP | c.53T>G (p.Val18Gly)
| ClinVar dbSNP |
4 | g.87612106T= | CA1474384307 | DSPP | c.53T= (p.Val18=)
| |
4 | g.87612107T>A | CA440293867 | DSPP | c.54T>A (p.Val18=)
| |
4 | g.87612107T>C | CA440293868 | DSPP | c.54T>C (p.Val18=)
| |
4 | g.87612107T>G | CA440293870 | DSPP | c.54T>G (p.Val18=)
| |
4 | g.87612108C>A | CA357602698 | DSPP | c.55C>A (p.Pro19Thr)
| gnomAD v4 |
4 | g.87612108C>G | CA357602699 | DSPP | c.55C>G (p.Pro19Ala)
| |
4 | g.87612108C>T | CA357602700 | DSPP | c.55C>T (p.Pro19Ser)
| gnomAD v4 |
4 | g.87612109C>A | CA357602701 | DSPP | c.56C>A (p.Pro19His)
| |
4 | g.87612109C>G | CA357602702 | DSPP | c.56C>G (p.Pro19Arg)
| |
4 | g.87612109C>T | CA357602703 | DSPP | c.56C>T (p.Pro19Leu)
| |
4 | g.87612110T>A | CA440293878 | DSPP | c.57T>A (p.Pro19=)
| |
4 | g.87612110T>C | CA440293881 | DSPP | c.57T>C (p.Pro19=)
| |
4 | g.87612110T>G | CA440293879 | DSPP | c.57T>G (p.Pro19=)
| |
4 | g.87612111C>A | CA357602704 | DSPP | c.58C>A (p.Gln20Lys)
| |
4 | g.87612111C= | CA1474384308 | DSPP | c.58C= (p.Gln20=)
| |
4 | g.87612111C>G | CA357602705 | DSPP | c.58C>G (p.Gln20Glu)
| |
4 | g.87612111C>T | CA357602706 | DSPP | c.58C>T (p.Gln20Ter)
| dbSNP gnomAD v4 |
4 | g.87612112A>C | CA357602709 | DSPP | c.59A>C (p.Gln20Pro)
| |
4 | g.87612112A>G | CA357602708 | DSPP | c.59A>G (p.Gln20Arg)
| |
4 | g.87612112A>T | CA357602707 | DSPP | c.59A>T (p.Gln20Leu)
| gnomAD v4 |